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Carrie Beth Pretto’s son Asher’s infantile spasms (IS) were diagnosed two years ago. A year after brain surgery, multiple medications and doctors’ visits, he is now seizure-free. Pretto describes the challenges they’ve overcome, and still face, and offers advice on finding support, treatment, and resources for IS.
Asher was diagnosed with infantile spasms on November 11, 2011. He was six months old.
A week prior to his diagnosis, Asher began having unusual eye patterns and jerking body movements. He would lean forward and then throw his head back and arms out wide.
As we began to notice this wasn’t just a one-time occurrence, we became concerned. Over a week’s time, the jerking motions and eye rolling developed into clusters, occurring more often throughout the day.
I made a call to our pediatrician, who immediately ordered us to have an EEG performed. While there, I overheard nurses comment, “This is classic IS,” not knowing the least bit about what they were referring to.
Within hours, we were sent to a local pediatric neurologist. I can still see the look on the doctor’s face when she walked into the room. It was not your usual first greeting from your doctor. Her face was filled with sadness and disappointment.
After examining Asher and reviewing the EEG, she diagnosed him with infantile spasms. The doctor stressed the need for starting treatment immediately to prevent prolonged damage to Asher’s brain and the associated developmental delays.
Although we knew nothing about IS, we could sense this was a serious matter and obediently agreed to any recommended treatment. The first step was to stop the spasms, and then continue trying to diagnose the cause of the spasms via MRI and other methods.
We were told the best case was that nothing abnormal would be found, and in that case, he’d likely grow out of the IS. The neurologist kept commenting that she hoped it wasn’t tuberous sclerosis complex (TSC). Again, something we had never heard of before.
The doctor prescribed a very expensive medication that was made-to-order out of Chicago and wouldn’t be released to us until a nonprofit organization agreed to assist with the co-pay. Within three days, we received the medication and began administering it via injections twice a day for 60 days. A nurse administered the first injection, but I was left to provide the injections from then on in his poor little thighs.
Again, step two was to determine what was causing the IS, so throughout his period of treatments, Asher underwent numerous tests such as MRI, ultrasounds, cardiology exams, blood work—it seemed endless. During this time, our poor son ballooned from the steroids, going from 15 to 20 pounds in only seven weeks.
The medication stopped the IS within three days of the first injection, but while weaning him off the treatment in the final weeks, we observed a different type of seizure develop, one in which he lost emotion while looking up and away. The neurologist prescribed new medications in various combinations and doses to stop the seizures, each unsuccessful.
Approximately two months after Asher was first diagnosed with IS, the neurologist delivered a diagnosis of tuberous sclerosis complex, based on the findings on the MRI. Tuberous sclerosis complex (TSC) is a genetic disorder in which the DNA lacks either one or both of the genes that suppress tumor growth in many of the major organs.
Currently Asher is only showing the TS characteristics of tumor growth on his skin and brain, which account for his uncontrolled epilepsy and developmental delay.
From this point, we were referred to the TSC clinic at UT Medical Center in Houston, Texas, for further treatment. There, we met with multiple neurologists and a geneticist, who prescribed another round of medications to control the seizures.
Finally, on November 5, 2012, Asher underwent an occipital resection on the left hemisphere of his brain to remove the largest tuber, [occupying] roughly 10 percent of his brain, that was causing his epilepsy.
With our weekly schedule of occupational, speech, physical and autism therapy, Asher is thriving, despite the setbacks that we have faced over the past two years.
After two years of multiple medications and doctors’ visits, Asher has now been seizure-free since his brain surgery just over a year ago. It is such a blessing that we can now say our little guy, at the age of two and a half, is actively catching up and accomplishing new milestones everyday.
Asher is a busy little guy. When not at therapy, some of the things he enjoys are swinging, going for wagon rides, running outside, doing puzzles, listening to sing-a-long songs, anything to do with shapes, playing peek-a-boo, coloring, jumping on the bed, and airplane on daddy’s feet, and he loves tubby time (bath time).
Some of the biggest challenges have been his lack of and delays in ability to communicate and show emotions and expressions of love, public outings, such as shopping and restaurants, tending to another child while home, what kind of care to give him and how to get it, as well as therapy, treatment plans for long-term care, limited medical coverage for behavioral therapy, rareness of the disorder and limitations of knowledgeable staff close to home.
For the parents of those who are newly diagnosed, it’s important to educate yourself quickly through only credible resources—the internet can be very misleading—and to find a neurologist who is knowledgeable in diagnosing and treating IS. Technology is also very important—they must have the right and most up-to-date tools.
Be prepared to make difficult decisions, whether it is in regards to medications and their harmful side effects, or the onset of developmental delays. Nonprofit companies are available to help you when in need. Support groups are out there … you are not alone.Posted in About Us, Diseases, Featured | Tagged Asher Pretto, brain surgery, cardiology, Carrie Beth Pretto, EEG, Infantile Spasms, mri, neurology, occipital resection, seizure, seizure free, seizures, steroids, tsc, tuberous sclerosis, ultrasounds | Leave a comment May 18, 2014
Patricia George, M.D., spoke with Community about her work in pulmonary transplant medicine, her HIV-PAH research, and her motivation as a member of PHA’s four-woman Team PHenomenal Hope in the nine-day 2014 Race Across America.
Going into medical school, I had passion for and experience in immunology research, so transplantation was something in which I was always interested. And like many who go into pulmonary medicine, I was initially drawn to it through my medical school and residency rotations in the medical intensive care unit. I enjoyed pulmonary physiology, and the work and pace of critical care medicine.
In addition, as a medical student, I met a patient with cystic fibrosis awaiting a lung transplant in the medical intensive care unit. I got to know her and her mom, and some of her life story, and wanted to be able to help people like her with lung disease. So that led me to pulmonary medicine and pulmonary transplant medicine.
My research involves looking at the mechanisms of HIV-associated pulmonary arterial hypertension (HIV-PAH). Pulmonary arterial hypertension is quite rare, however in patients with HIV, it affects at least 0.5 percent, and perhaps more, according to recent studies. That’s at least one in [every] 200 patients!
Advances in HIV care have changed the landscape for people with HIV, and many now label HIV a chronic disease. So medical complications, like HIV-PAH, become extremely important to study and hopefully help people live longer and live better.
Team PHenomenal Hope came together with people passionate about cycling and raising awareness. As an avid cyclist, it had long been a dream to someday race in the Race Across America (RAAM).
Stacie Truszkowski, one of my close friends in the cycling community, also shared this dream. So, in 2011 and 2012, Stacie and I reached out to our endurance cycling friends whom we thought might be crazy—er—passionate—enough to do this as well, and in 2012, with the addition of Anne-Marie Alderson, Ryanne Palermo, and Kate Bennett as our crew chief, our four-woman cycling team was born.
We organized this Pittsburgh-based team, met with our friends at PHA, as well as our earliest sponsors, and formed Team PHenomenal Hope. Later that summer, we added to this group Greta Daniels, assistant crew chief and alternate racer, and Sara Harper, alternate racer and crew.
Our mission is to dedicate our training and racing to those who live with pulmonary hypertension, to raise public awareness about the disease, and to raise funds to find a cure.
I started biking during pulmonary fellowship. I wanted to get back in shape, and a new women’s cycling team called Steel City Endurance was forming. I joined them in the inaugural year, and became totally enamored with biking and bike racing and met a lot of really neat people.
I enjoy being outside, escaping the stresses of my sometimes hectic lifestyle. As for endurance cycling, I enjoy pushing my body and mind to some sort of limit. It allows you to lose yourself in the present—how you’re feeling at that time.
We’re working with our team coach, who’s helping coordinate our training schedules so that they build and peak at the right time. Training is about consistency—getting the workouts in, getting stronger every day (except rest days). Eating healthy and getting enough sleep are crucial too.
As a team, we’re racing the whole race as a relay. To make the time cut-off and make it to the finish line as fast as we can, we divide up the ride into 20-to-30-minute segments.
On a four-person team, typically two riders will be out on the road, trading places in 20-to-30-minute pulls (one riding, the other in a support vehicle leapfrogging ahead for the exchange to happen). This pair of the four-woman team will ride for four to six hours, while the other pair rests, eats, sleeps, and recovers. It goes 24/7, from the time the gun goes off until we cross the finish line.
From what I hear, mental toughness will be one of the biggest challenges during RAAM. Those who have done it say that, at about day four or five, the sleep deprivation kicks in, and the reality of the Midwest flatlands also hits you. I know there is beauty in rolling plains, but at that point in the race, it may be tough to see it.
During RAAM, the crew is the essential group of people that will get us from Oceanside, California, to Annapolis, Maryland. The crew chief, Kate Bennett, is in charge of coordinating the drivers, navigators, medics, mechanics, nutrition, making sure we’re on course, and that people— including crew—are getting enough sleep, food, etc. A race with this relay between four racers, moving across the country with an RV, two support vehicles, and 13 crewmembers is quite an undertaking.
The greatest source of inspiration is the PH community. When I think about how hard it may be to be on the bike, mentally or physically, I think about what my patients go through on a daily basis.
I get to choose to ride my bike, to push myself through discomfort. My patients don’t have such a choice. They wake up and live with pulmonary hypertension every day, and face whatever that day may bring, and many do so with such grace. So when I’m feeling less than motivated, I often think of people I know living with PH, and it motivates me to get this job done.
Likewise, in my practice, I am regularly reminded of the need for a cure. I often evaluate patients with pulmonary hypertension in need of a lung transplant. For this group of patients, they often no longer are responding to medications. It is a reminder that, while we have come so far, and many patients do respond to medical therapies, we still need a cure.
In my job, I also conduct PH research, and know firsthand how important funding is to exploring the frontiers in science. It makes it all the more important to me that Team PHenomenal Hope is raising money for PHA to fund grants and help other scientists have funds needed to find a cure.
We have something truly special with our partnership with the Pulmonary Hypertension Association. PHA launched a Race of Our Lives campaign, and we have been amazed how people in the community have organized their own Unity events, walking, riding their bikes, doing whatever they can to raise awareness about PH and join us in raising funds to find a cure.
Team PHenomenal Hope is bigger than four of us on bikes, or the 17 of us crossing the country. This is actually a huge team that spans coast-to-coast.
Pulmonary hypertension is a rare disease that can affect anyone, from children to adults, men and women, and people of all races and ethnic backgrounds. Initially, it is often misdiagnosed as another pulmonary condition, taking on average over a year to make the correct diagnosis and get the proper treatment.
Although it is a rare disease, it is important for doctors to at least think about pulmonary hypertension in their differential diagnosis when faced with a patient with shortness of breath, because without considering it, the diagnosis won’t be made.
Fortunately there are many medical treatments on the market, changing the prognosis for many who have this disease; however there still are people who do not respond to therapy, and to date there is no cure. Team PHenomenal Hope is working with PHA to do something to try to change that.
Posted in About Us, Diseases, Featured | Tagged anne marie alderson, bicycle, bicycling, bike, biking, chronic disease, cycling, cystic fibrosis, greta daniels, hiv-pah, hivpah, kate bennett, lung disease, pah, patricia george, patty george, PH, PHA, phenomenal hope, Pulmonary, pulmonary arterial hypertension, Pulmonary Hypertension, Pulmonary Hypertension Association, pulmonary medicine, pulmonary physiology, raam race, race across america, race of our lives, ryanne palermo, sara harper, stacie truszkowski, steel city endurance, team phenomenal hope, transplant, transplantation | Leave a comment May 15, 2014
InterMune Announces Expanded Access Program for Pirfenidone to Treat Idiopathic Pulmonary Fibrosis (IPF) in the United States
Date(s): 5/16/14 8:00 AM
For a complete listing of InterMune news releases, please click here
BRISBANE, Calif., May 16, 2014 /PRNewswire/ — InterMune, Inc. (NASDAQ: ITMN) today announced it will provide compassionate use of pirfenidone through a multi-center Expanded Access Program (EAP) in the United States to be conducted under InterMune’s U.S. IND. Pirfenidone is an investigational therapy in the U.S. and has not been approved by the U.S. Food and Drug Administration (FDA).
Expanded access programs provide a mechanism for early access to an investigational drug in the pre-approval period to treat patients with a serious or immediately life-threatening disease or condition that has no comparable or satisfactory alternative treatment options.
“We are pleased to offer this expanded access program for eligible patients in the U.S.,” said Jonathan Leff, M.D., Executive Vice President of Research and Development, InterMune. “This EAP provides a mechanism for eligible patients to access pirfenidone as a treatment option, following the recent successful completion of our ASCEND Phase 3 trial and prior to FDA’s final decision on the approvability of pirfenidone in the United States.”
To enroll in the EAP, a patient must meet specific clinical criteria. Eligible patients must have a clinical and radiographic diagnosis of IPF with the presence of a usual interstitial pneumonia (UIP) pattern on high-resolution computed tomography (HRCT). Additional criteria for the EAP are listed on www.clinicaltrials.gov. It is important to note that only a physician who is participating in the EAP can assess a potential patient for eligibility. The EAP protocol contains provisions for stopping enrollment of patients in the EAP upon a decision by the FDA on the approvability of a pirfenidone New Drug Application (NDA).
There are currently a limited number of sites accepting patients for enrollment to the pirfenidone EAP and InterMune expects that all sites will be participating by September of 2014. InterMune is working with the Pulmonary Fibrosis Foundation (PFF), the Coalition for Pulmonary Fibrosis (CPF) and other advocacy groups to enable patients with IPF to obtain information about the pirfenidone EAP.
For more information about the pirfenidone EAP, including eligibility criteria and participating clinical centers, contact InterMune Medical Information at 888-486-6411 or the Pulmonary Fibrosis Foundation (PFF) at 844-TalkPFF (844-825-5733) or visit www.clinicaltrials.gov.
Idiopathic pulmonary fibrosis (IPF) is an irreversible and ultimately fatal disease characterized by progressive loss of lung function due to fibrosis (scarring) in the lungs, which hinders the ability of lungs to absorb oxygen. IPF inevitably causes shortness of breath, and a deterioration in lung function and exercise tolerance. IPF patients follow different and unpredictable clinical courses and it is not possible to predict if a patient will progress slowly or rapidly, or when the rate of decline may change. Periods of transient clinical stability in IPF, when they occur, inevitably give way to continued disease progression. The median survival time from diagnosis is two to five years, with a five-year survival rate of approximately 20-40 percent, which makes IPF more rapidly lethal than many malignancies, including breast, ovarian and colorectal cancers. IPF typically occurs in patients over age 45, and tends to affect slightly more men than women.
Pirfenidone is an orally active, anti-fibrotic agent that inhibits the synthesis of TGF-beta, a chemical mediator that controls many cell functions including proliferation and differentiation, and plays a key role in fibrosis. Pirfenidone also inhibits the synthesis of TNF-alpha, a cytokine that is known to have an active role in inflammation.
InterMune is a biotechnology company focused on the research, development and commercialization of innovative therapies in pulmonology and orphan fibrotic diseases. In pulmonology, the company is focused on therapies for the treatment of idiopathic pulmonary fibrosis (IPF), a progressive, irreversible, unpredictable and ultimately fatal lung disease. Pirfenidone is not approved for marketing in the United States. InterMune’s research programs are focused on the discovery of targeted, small-molecule therapeutics and biomarkers to treat and monitor serious pulmonary and fibrotic diseases. For additional information about InterMune and its R&D pipeline, please visit www.intermune.com.
This news release contains forward-looking statements within the meaning of section 21E of the Securities Exchange Act of 1934, as amended, that reflect InterMune’s judgment and involve risks and uncertainties as of the date of this release, including without limitation InterMune’s expectations regarding the availability of its Expanded Access Program for patients in the U.S. with IPF. All forward-looking statements and other information included in this press release are based on information available to InterMune as of the date hereof, and InterMune assumes no obligation to update any such forward-looking statements or information. InterMune’s actual results could differ materially from those described in InterMune’s forward-looking statements.
Other factors that could cause or contribute to such differences include, but are not limited to, those discussed in detail under the heading “Risk Factors” in InterMune’s most recent annual report on Form 10-K filed with the Securities and Exchange Commission (SEC) on February 24, 2014 (the “Form 10-K”) and other periodic reports filed with the SEC, including but not limited to the following: (i) the risks related to the uncertain, lengthy and expensive clinical development process for the company’s product candidates, including having no unexpected safety, toxicology, clinical or other issues and having no unexpected clinical trial results such as unexpected new clinical data and unexpected additional analysis of existing clinical data; (ii) risks related to the regulatory process for the company’s product candidates, including the possibility that the results of the new 52-week Phase 3 clinical trial (ASCEND) having an FVC endpoint may not be satisfactory to the FDA for InterMune to receive regulatory approval for pirfenidone in the United States; (iii) risks related to unexpected regulatory actions or delays or government regulation generally; and (iv) risks related to the company’s manufacturing strategy, which relies on third-party manufacturers and which exposes InterMune to additional risks where it may lose potential revenue. The risks and other factors discussed above should be considered only in connection with the fully discussed risks and other factors discussed in detail in the Form 10-K and InterMune’s other periodic reports filed with the SEC, all of which are available via InterMune’s web site at www.intermune.com.
SOURCE InterMune, Inc.
FOR IMMEDIATE RELEASE
Lundbeck’s SABRIL® (vigabatrin) Now Approved by U.S. FDA as an Adjunctive Treatment Option for Children 10 and older with Refractory Complex Partial Seizures
Deerfield, Ill., October 28, 2013 – The U.S. Food and Drug Administration (FDA) approved SABRIL (vigabatrin) as add-on therapy for the treatment of refractory complex partial seizures (CPS) in children 10 years of age and older who have inadequately responded to several other treatments and if the possible benefit outweighs the risk of vision loss.1 This approval expands upon the age range of SABRIL’s previous indication as adjunctive therapy for adults with refractory CPS. SABRIL is not indicated as a first-line agent for refractory CPS.
Of the more than two million Americans affected by epilepsy,2 approximately 35 percent have CPS, which originates from a single region of the brain and can cause impaired consciousness.3 Approximately 30 to 36 percent of those with CPS continue to have seizures despite trying multiple therapies, and are considered to have refractory CPS.4,5,6
“It is crucially important for people with challenging seizures like refractory CPS to not give up and continue striving for improved seizure management, and this expanded Sabril indication provides another consideration for the treatment of those ten and older with refractory CPS,” said Philip Gattone, president and CEO of the Epilepsy Foundation. “We encourage people living with such challenging seizures and their loved ones to have ongoing conversations with their doctor about available options to help manage this intractable seizure disorder.”
When SABRIL was first approved in 2009, a patient registry was established to collect information on all patients who are prescribed SABRIL. To date, more than 5,600 patients have been treated with SABRIL, a substantial number of whom have been treated for refractory CPS.7 In evaluating whether to start SABRIL, doctors, patients and their caregivers work together to assess the risk of permanent vision loss versus the benefit of seizure reduction. There are other serious risks associated with SABRIL. Please see the important safety information below for more details.
“With so many children still having seizures due to refractory CPS, we are very pleased that the FDA has approved SABRIL for patients 10 and older who may benefit from a new add-on treatment option,” said Amy Magro, Director of Epilepsy Marketing at Lundbeck. “For those caring for a child as young as 10, we hope this new indication provides encouragement to speak with their child’s doctor about the risks and potential benefits of adding SABRIL for refractory CPS.”
In addition to its refractory CPS indication, SABRIL is approved for use in babies one month to two years of age with infantile spasms if the possible benefit outweighs the potential risk of vision loss.
For more information, please visit www.SABRIL.net.
About SABRIL® (vigabatrin) 1
SABRIL is a prescription oral antiepileptic drug developed in the United States by Lundbeck. SABRIL is available in 500-mg tablets or 500-mg packets of powder for oral suspension. Because of the risk of permanent vision loss, SABRIL is available only through a restricted program under a REMS called the SHARE Program. (1-888-45-SHARE).
SABRIL (vigabatrin) is a prescription medicine used with other treatments in adults and children 10 years of age and older with refractory complex partial seizures (CPS), who have not responded well enough to several other treatments, and if the possible benefits outweigh the risk of vision loss. SABRIL should not be the first medicine used to treat CPS.
SABRIL (vigabatrin) is a prescription medicine used in babies, 1 month to 2 years old, with infantile spasms (IS), if the possible benefits outweigh the possible risk of vision loss.
Important Safety Information
WARNING: VISION LOSS
See Medication Guide and full Prescribing Information for complete information
In all people who take SABRIL:
• You are at risk for vision loss with any amount of SABRIL
• Your risk of vision loss may be higher the more SABRIL you take daily and the longer you take it
• It is not possible for your healthcare provider to know when vision loss will happen. It could happen soon after starting SABRIL or any time during treatment. It may even happen after treatment has stopped.
Please see SABRIL Medication Guide, full Prescribing Information including Boxed Warning, and Instructions for Use; go to www.sabril.net, or call toll-free 1-888-45-SHARE (1-888-457-4273).
You are encouraged to report negative side effects of prescription drugs to the FDA. Visit www.fda.gov/medwatch, or call 1-800-FDA-1088.
About Lundbeck in the U.S.
A wholly owned subsidiary of H. Lundbeck A/S of Denmark, Lundbeck in the United States is headquartered in Deerfield, Illinois, and is committed to providing innovative specialty therapies that fulfill unmet medical needs of people with central nervous system (CNS) disorders, including several therapies for people with challenging seizure disorders.
With a special commitment to the epilepsy community, Lundbeck actively supports and participates in hundreds of community-based initiatives. Learn more about our epilepsy community programs at http://www.lundbeck.com/us/our-commitment/community-involvement.
About H. Lundbeck A/S
Lundbeck is a global pharmaceutical company highly committed to improving the quality of life of people living with brain diseases. For this purpose, Lundbeck is engaged in the entire value chain throughout research, development, production, marketing and sales of pharmaceuticals across the world. The company’s products are targeted at disorders such as depression and anxiety, psychotic disorders, epilepsy, Huntington’s, Alzheimer’s and Parkinson’s diseases. Lundbeck’s pipeline consists of several mid- to late-stage development programs.
Lundbeck employs more than 5,800 people worldwide, 2,000 of whom are based in Denmark. We have employees in 57 countries and our products are registered in more than 100 countries. We have research centers in Denmark, China and the United States and production facilities in Italy, France, Mexico, China and Denmark. Lundbeck generated revenue of approximately DKK 15 billion in 2012. Lundbeck’s shares are listed on the stock exchange in Copenhagen under the symbol “LUN.” Lundbeck has a sponsored Level 1 ADR programme listed in the US (OTC) under the symbol “HLUYY.” For additional information, we encourage you to visit our corporate site www.lundbeck.com.
SABRIL is a registered trademark of Lundbeck.
Actelion receives U.S. FDA approval of Opsumit (macitentan) for the treatment of pulmonary arterial hypertension.
Allschwil, Switzerland, October 18, 2013 – Actelion Ltd (SIX: ATLN) announced today that the United States Food and Drug Administration (FDA) has approved the use of the orally available endothelin receptor antagonist Opsumit® (macitentan) 10 mg once daily for the treatment of pulmonary arterial hypertension (PAH) to delay disease progression.
Opsumit is indicated for the treatment of pulmonary arterial hypertension (PAH, WHO Group I) to delay disease progression. Disease progression included: death, initiation of intravenous (IV) or subcutaneous prostanoids, or clinical worsening of PAH (decreased 6-minute walk distance, worsened PAH symptoms and need for additional PAH treatment). Opsumit also reduced hospitalization for PAH.
Effectiveness was established in a long-term study in PAH patients with predominantly WHO Functional Class II-III symptoms treated for an average of 2 years. Patients were treated with Opsumit® monotherapy or in combination with phosphodiesterase-5 inhibitors or inhaled prostanoids. Patients had idiopathic and heritable PAH (57%), PAH caused by connective tissue disorders (31%), and PAH caused by congenital heart disease with repaired shunts (8%).
Dr. Vallerie McLaughlin, Director of the Pulmonary Hypertension Program in the Division of Cardiovascular Medicine at the University of Michigan, commented: “Over the past twenty years, great strides have been made in treating PAH patients. However, there has been a medical need for innovative treatments that improve long-term outcomes. Opsumit® is the first clinically proven and only oral treatment option indicated to delay disease progression and reduce the need for PAH hospitalization.”
Dr. McLaughlin concluded: “These effects were demonstrated in SERAPHIN, the first and largest PAH outcome study to date, where Opsumit® was given on average for 2 years, as a monotherapy or in combination with phosphodiesterase-5 inhibitors or inhaled prostanoids. I am very pleased that PAH patients will have this new treatment option.”
Jean-Paul Clozel, M.D. and Chief Executive Officer of Actelion commented: “Today’s approval of Opsumit® by the FDA is providing the PAH community with a unique treatment option, the only oral PAH medicine that has proven to delay disease progression. Over the last 14 years, Actelion has worked tirelessly to first discover and then develop Opsumit® in the largest, longest and first-ever outcome study in PAH. I would like to express my gratitude to all the members of the PAH community. Without their contribution, Opsumit® would not have become a reality. We will now leverage our existing PAH expertise and infrastructure to bring Opsumit® to patients within the coming weeks.”
The US label for Opsumit® carries a Boxed Warning alerting patients and health care professionals that the drug should not be used in pregnant women because it can harm the developing fetus. Female patients can receive the drug only through the Opsumit REMS Program. All female patients must be enrolled in the program, comply with pregnancy testing requirements and be counselled regarding the need for contraception.
The most common adverse reactions (more frequent than placebo by 3% or more) observed in patients treated with Opsumit® were anemia, nasopharyngitis/pharyngitis, bronchitis, headache, influenza, and urinary tract infection.
Physicians are advised to measure hemoglobin and liver enzymes prior to initiation of Opsumit® and repeat during treatment as clinically indicated.
In the United States, Actelion expects Opsumit® to become available to patients in November. Outside of the United States, Actelion continues to work with health authorities to obtain regulatory approval for Opsumit® .
The FDA approval was based in part on data from the landmark phase III SERAPHIN study. Published in the New England Journal of Medicine in August 2013, the SERAPHIN study showed the risk of the first occurrence of a morbidity or mortality event, the primary endpoint of the study, was reduced by 45% (p<0.0001) with macitentan 10 mg compared to placebo. This effect was observed irrespective of whether or not patients were already treated with other therapies for PAH. SERAPHIN also showed a risk reduction in PAH related hospitalization and death of 50% (p<0.0001) compared to placebo. .
Pulmonary arterial hypertension (PAH) is a chronic, life-threatening disorder characterized by abnormally high blood pressure in the arteries between the heart and lungs of an affected individual. The symptoms of PAH are non-specific and can range from mild breathlessness and fatigue during normal daily activity to symptoms of right heart failure and severe restrictions on exercise capacity and ultimately reduced life expectancy.
NOTES TO THE EDITOR
ABOUT OPSUMIT® (MACITENTAN)
Opsumit® (macitentan) is a novel dual endothelin receptor antagonist (ERA) that resulted from a tailored drug discovery process with the target of developing an ERA to address efficacy and safety .
ABOUT THE SERAPHIN STUDY
SERAPHIN (Study with an Endothelin Receptor Antagonist in Pulmonary arterial Hypertension to Improve cliNical outcome) was the largest and longest randomized, controlled study in PAH patients to include a clearly defined morbidity/mortality primary endpoint . The pivotal Phase III study was designed to evaluate the efficacy and safety of Opsumit®(macitentan) – a novel dual endothelin receptor antagonist that resulted from a tailored drug discovery process – through the primary endpoint of time to first morbidity and all-cause mortality event in patients with symptomatic PAH.
Global enrollment was completed in December 2009 with a total of 742 patients. Patients were randomized 1:1:1 to receive two different doses of macitentan (3 mg and 10 mg once daily) or placebo. Patients were allowed to receive PAH background therapy throughout the study, either PDE-5 inhibitors or oral/inhaled prostanoids. This event-driven study was conducted in 151 centers from almost 40 countries in North America, Latin America, Europe, Asia-Pacific and Africa and was completed in the first half of 2012, with 287 patients having an adjudicated event.
Dr. McLaughlin is a consultant to Actelion and was an investigator in the SERAPHIN trial.
ABOUT SERAPHIN STUDY DATA
Patients were randomized to placebo (n=250), macitentan 3 mg (n=250), or macitentan 10 mg (n=242). The primary end point occurred in 46.4%, 38.0%, and 31.4% of the patients in these groups, respectively. The hazard ratio for macitentan 3 mg versus placebo was 0.70 (97.5% CI, 0.52 to 0.96; p=0.0108) and the hazard ratio for macitentan 10 mg versus placebo was 0.55 (97.5% CI, 0.39 to 0.76; p<0.0001). Worsening of pulmonary arterial hypertension was the most frequent primary end point event. The effect of macitentan on this end point was observed irrespective of background therapy for pulmonary arterial hypertension. 
ABOUT THE SAFETY AND TOLERABILITY PROFILE
Opsumit is contraindicated in pregnancy because it may harm the developing fetus. Females of reproductive potential should be counselled on the use of reliable contraception and have a negative pregnancy test prior to initiating therapy and monthly thereafter.
Other ERAs have been associated with elevations of aminotransferases, hepatotoxicity, and liver failure. Liver enzyme tests should be obtained prior to initiation of Opsumit® and repeated during treatment as clinically indicated. If clinically relevant aminotransferase elevations occur, or if elevations are accompanied by clinical symptoms of hepatoxicity, discontinue Opsumit®.
Decreases in hemoglobin concentration and hematocrit occurred following administration of other ERAs and were observed in clinical studies with OPSUMIT. The decreases occurred early and stabilized thereafter. Decreases in hemoglobin seldom require transfusion. Initiation of Opsumit® is not recommended in patients with severe anemia. Hemoglobin should be measured prior to initiation of treatment and repeat during treatment as clinically indicated.
Should signs of pulmonary edema occur, consider the possibility of associated PVOD. If confirmed, discontinue Opsumit®.
Other ERAs have been associated with adverse effects on spermatogenesis. Men should be counseled about potential effects on fertility.
The use of Opsumit® with strong CYP3A4 inducers or inhibitors should be avoided.
The most common adverse reactions (more frequent than placebo by 3% or more) observed in patients treated with Opsumit were anemia, nasopharyngitis/pharyngitis, bronchitis, headache, influenza, and urinary tract infection.
ABOUT OPSUMIT® (MACITENTAN) SUBMISSIONS TO HEALTHCARE AUTHORITIES
Approval of the new drug application for Opsumit® (macitentan) was issued by the US Food and Drug Administration (FDA) on 18October 2013 for the treatment of pulmonary arterial hypertension (PAH, WHO Group I) to delay disease progression. Disease progression included: death, initiation of intravenous (IV) or subcutaneous prostanoids, or clinical worsening of PAH (decreased 6-minute walk distance, worsened PAH symptoms and need for additional PAH treatment). The need for PAH hospitalization was also reduced.
Regulatory reviews are ongoing in Europe, Canada, Switzerland, Australia, Taiwan, Korea and Mexico.
ABOUT PULMONARY ARTERIAL HYPERTENSION [9, 10]
Pulmonary arterial hypertension (PAH) is a chronic, life-threatening disorder characterized by abnormally high blood pressure in the arteries between the heart and lungs of an affected individual. The symptoms of PAH are non-specific and can range from mild breathlessness and fatigue during normal daily activity to symptoms of right heart failure and severe restrictions on exercise capacity and ultimately reduced life expectancy.
PAH is one group within the classification of pulmonary hypertension (PH). This group includes idiopathic PAH, heritable PAH and PAH caused by factors which include connective tissue disease, HIV infection and congenital heart disease.
The last decade has seen significant advances in the understanding of the pathophysiology of PAH, which has been paralleled with developments of treatment guidelines and new therapies. Drugs targeting the three pathways that have been established in the pathogenesis of PAH are endothelin receptor antagonists (ERAs), prostacyclins and phosphodiesterase-5 inhibitors. PAH treatments have transformed the prognosis for PAH patients from symptomatic improvements in exercise tolerance 10 years ago to delayed disease progression today. Improved disease awareness and evidence-based guidelines developed from randomized controlled clinical trial data have highlighted the need for early intervention, goal-oriented treatment and combination therapy.
In PAH, survival rates are unacceptably low and PAH remains incurable.
Actelion Ltd is a biopharmaceutical company with its corporate headquarters in Allschwil/Basel, Switzerland. Actelion’s first drug Tracleer® (bosentan), an orally available dual endothelin receptor antagonist, has been approved as a therapy for pulmonary arterial hypertension. Actelion markets Tracleer through its own subsidiaries in key markets worldwide, including the United States (based in South San Francisco), the European Union, Japan, Canada, Australia and Switzerland. Actelion, founded in late 1997, is a leading player in innovative science related to the endothelium – the single layer of cells separating every blood vessel from the blood stream. Actelion’s over 2,300 employees focus on the discovery, development and marketing of innovative drugs for significant unmet medical needs. Actelion shares are traded on the SIX Swiss Exchange (ticker symbol: ATLN) as part of the Swiss blue-chip index SMI (Swiss Market Index SMI®).
For further information please contact:
Senior Vice President, Head of Investor Relations & Public Affairs
Actelion Pharmaceuticals Ltd, Gewerbestrasse 16, CH-4123 Allschwil
+41 61 565 62 62
+1 650 624 69 36
The above information contains certain “forward-looking statements”, relating to the company’s business, which can be identified by the use of forward-looking terminology such as “estimates”, “believes”, “expects”, “may”, “are expected to”, “will”, “will continue”, “should”, “would be”, “seeks”, “pending” or “anticipates” or similar expressions, or by discussions of strategy, plans or intentions. Such statements include descriptions of the company’s investment and research and development programs and anticipated expenditures in connection therewith, descriptions of new products expected to be introduced by the company and anticipated customer demand for such products and products in the company’s existing portfolio. Such statements reflect the current views of the company with respect to future events and are subject to certain risks, uncertainties and assumptions. Many factors could cause the actual results, performance or achievements of the company to be materially different from any future results, performances or achievements that may be expressed or implied by such forward-looking statements. Should one or more of these risks or uncertainties materialize, or should underlying assumptions prove incorrect, actual results may vary materially from those described herein as anticipated, believed, estimated or expected.
News Release Intended for U.S. Media Only
FDA Approves Bayer’s New Class of Drug Adempas® (riociguat) tablets to Treat Adults with PAH and Persistent, Recurrent or Inoperable CTEPH First and only drug approved in U.S. to Treat Two Forms of Pulmonary Hypertension (WHO Group 1 and 4)
Whippany, N.J., October 8, 2013 – Bayer HealthCare announced today that the United States Food and Drug Administration (FDA) has approved Adempas® (riociguat) tablets for: (i) the treatment of adults with persistent/recurrent chronic thromboembolic pulmonary hypertension (CTEPH) (WHO* Group 4) after surgical treatment or inoperable CTEPH to improve exercise capacity and WHO functional class; and (ii) the treatment of adults with pulmonary arterial hypertension (PAH) (WHO Group 1) to improve exercise capacity, improve WHO functional class and delay clinical worsening. In PAH, efficacy was shown in patients on Adempas monotherapy or in combination with endothelin receptor antagonists (ERAs) or prostanoids (inhaled, oral or subcutaneous). Studies establishing effectiveness included predominately patients with WHO functional class II-III and etiologies of idiopathic or heritable PAH (61%) or PAH associated with connective tissue diseases (25%). Adempas is the only treatment approved in the U.S. for use in two types of pulmonary hypertension (WHO Group 1 and 4). It is the first and only FDA-approved drug therapy for persistent/recurrent CTEPH after surgical treatment or inoperable CTEPH. It is also the only approved oral therapy in PAH with efficacy shown in monotherapy or in combination with ERAs or prostanoids. For all female patients, Adempas is available only through a restricted program called the Adempas Risk Evaluation and Mitigation Strategy (REMS) Program.
“CTEPH and PAH are serious and life-threatening diseases,” said Nick H. Kim, Associate Clinical Professor of Medicine, Division of Pulmonary and Critical Care Medicine; Director, Pulmonary Vascular Medicine; Director, Fellowship Program; University of California San Diego. “The approval of Adempas equips physicians with a new approach to treating PAH patients, and it gives us the first approved drug treatment for patients with inoperable CTEPH or with persistent/recurrent CTEPH after surgery. While surgery should always be considered as the first treatment option for CTEPH, the fact remains that up to forty percent of CTEPH patients are not eligible for surgery, and ten to thirty-five percent of CTEPH patients have disease that persists after surgery.” PAH is a disease characterized by elevated pressure in the pulmonary arteries. CTEPH is a form of pulmonary hypertension in which blood clots and thromboembolic occlusion of the pulmonary vessels leads to increased pressure in the pulmonary arteries. The standard treatment for CTEPH is pulmonary endarterectomy, a potentially curative surgery that clears clots and scar material from the blood vessels of the lung. “Bayer is deeply committed to bringing new treatment options to patients with life-threatening diseases. Adempas is an excellent example of this commitment, because it is the result of years of dedicated research in our Bayer laboratories into a new way of treating two forms of pulmonary hypertension,” said Pamela A. Cyrus, MD, Vice President and Head, U.S. Medical, Bayer HealthCare Pharmaceuticals. “We are pleased to bring this new class of treatment to patients with PAH or with inoperable CTEPH or persistent/recurrent CTEPH after surgical treatment.” Rino Aldrighetti, President and CEO, Pulmonary Hypertension Association added, “From a patient’s perspective, living with pulmonary hypertension remains difficult. We know that not all treatments work for all people. We get excited when there is a new treatment option for PAH patients, and we are thrilled there is finally an approved drug treatment for people living with persistent/recurrent CTEPH after surgical treatment or inoperable CTEPH.” Adempas, a stimulator of soluable guanylate cyclase (sGC), represents a new class of drug now available in the U.S. Pulmonary hypertension is associated with endothelial dysfunction, impaired synthesis of nitric oxide (NO) and insufficient stimulation of the NO-sGC-cGMP pathway. Adempas sensitizes sGC to endogenous NO by stabilizing the NO-sGC binding. Adempas also directly stimulates sGC via a different binding site independently of NO. Adempas restores the NO-sGC-cGMP pathway and leads to increased generation of cGMP with subsequent vasodialation. The most common adverse reactions occurring more frequently (>3%) on Adempas than placebo were headache (27% vs 18%), dyspepsia/gastritis (21% vs. 8%), dizziness (20% vs 13%), nausea (14% vs 11%), diarrhea (12% vs 8%), hypotension (10% vs 4%), vomiting (10% vs 7%), anemia (7% vs 2%), gastroesophageal reflux disease (5% vs 2%), and constipation (5% vs 1%). Other events that were seen more frequently in Adempas compared to placebo and potentially related to treatment were: palpitations, nasal congestion, epistaxis, dysphagia, abdominal distension and peripheral edema. About Patient Assistance Program Bayer offers patient assistance through the Adempas Aim Support Center program, which will assist with obtaining coverage and patient support of Adempas. Patients and providers may contact the program at 1-855-4ADEMPAS for additional information. IMPORTANT SAFETY INFORMATION
WARNING: EMBRYO-FETAL TOXICITY Do not administer Adempas (riociguat) tablets to a pregnant female because it may cause fetal harm.
Females of reproductive potential: Exclude pregnancy before the start of treatment, monthly during treatment, and 1 month after stopping treatment. Prevent pregnancy during treatment and for one month after stopping treatment by using acceptable methods of contraception.
For all female patients, Adempas is available only through a restricted program called the Adempas Risk Evaluation and Mitigation Strategy (REMS) Program.
Contraindications. Adempas is contraindicated in:
Warnings and Precautions Embryo-Fetal Toxicity. Adempas may cause fetal harm when administered during pregnancy and is contraindicated for use in women who are pregnant. In females of reproductive potential, exclude pregnancy prior to initiation of therapy, advise use of acceptable contraception and obtain monthly pregnancy tests. For females, Adempas is only available through a restricted program under the Adempas REMS Program. Adempas REMS Program. Females can only receive Adempas through the Adempas REMS Program, a restricted distribution program. Important requirements of the Adempas REMS program include the following:
Further information, including a list of certified pharmacies, is available at www.AdempasREMS.com or 1-855-4ADEMPAS. Hypotension. Adempas reduces blood pressure. Consider the potential for symptomatic hypotension or ischemia in patients with hypovolemia, severe left ventricular outflow obstruction, resting hypotension, autonomic dysfunction, or concomitant treatment with antihypertensives or strong CYP and P-gp/BCRP inhibitors. Consider a dose reduction if patient develops signs or symptoms of hypotension. Bleeding. In the placebo-controlled clinical trials program, serious bleeding occurred in 2.4% of patients taking Adempas compared to 0% of placebo patients. Serious hemoptysis occurred in 5 (1%) patients taking Adempas compared to 0 placebo patients, including one event with fatal outcome. Serious hemorrhagic events also included 2 patients with vaginal hemorrhage, 2 with catheter site hemorrhage, and 1 each with subdural hematoma, hematemesis, and intra-abdominal hemorrhage. Pulmonary Veno-Occlusive Disease. Pulmonary vasodilators may significantly worsen the cardiovascular status of patients with pulmonary veno-occlusive disease (PVOD). Therefore, administration of Adempas to such patients is not recommended. Should signs of pulmonary edema occur, the possibility of associated PVOD should be considered and if confirmed, discontinue treatment with Adempas. Most Common Adverse Reactions The most common adverse reactions occurring more frequently (>3%) on Adempas than placebo were headache (27% vs 18%), dyspepsia/gastritis (21% vs. 8%), dizziness (20% vs 13%), nausea (14% vs 11%), diarrhea (12% vs 8%), hypotension (10% vs 4%), vomiting (10% vs 7%), anemia (7% vs 2%), gastroesophageal reflux disease (5% vs 2%), and constipation (5% vs 1%). Other events that were seen more frequently in Adempas compared to placebo and potentially related to treatment were: palpitations, nasal congestion, epistaxis, dysphagia, abdominal distension and peripheral edema. For important risk and use information, please see the full Prescribing Information, including Boxed Warning, at www.adempas-us.com. About Bayer HealthCare Pharmaceuticals Inc. Bayer HealthCare Pharmaceuticals Inc. is the U.S.-based pharmaceuticals business of Bayer HealthCare LLC, a subsidiary of Bayer AG. Bayer HealthCare is one of the world’s leading, innovative companies in the healthcare and medical products industry, and combines the activities of the Animal Health, Consumer Care, Medical Care, and Pharmaceuticals divisions. As a specialty pharmaceutical company, Bayer HealthCare provides products for General Medicine, Hematology, Neurology, Oncology and Women’s Healthcare. The company’s aim is to discover and manufacture products that will improve human health worldwide by diagnosing, preventing and treating diseases. Bayer® and the Bayer Cross® are registered trademarks of Bayer. Intended for U.S. media only U.S. Media Contact: Marcy Funk, Communications, Bayer HealthCare Telephone: (862) 404-5385 E-Mail: email@example.com Forward-Looking Statements This release may contain forward-looking statements based on current assumptions and forecasts made by Bayer Group or subgroup management. Various known and unknown risks, uncertainties and other factors could lead to material differences between the actual future results, financial situation, development or performance of the company and the estimates given here. These factors include those discussed in Bayer’s public reports which are available on the Bayer website at www.bayer.com. The company assumes no liability whatsoever to update these forward-looking statements or to conform them to future events or developments.
News Release Intended for U.S. Media Only
FDA ADVISORY COMMITTEE UNANIMOUSLY RECOMMENDS APPROVAL OF BAYER’S RIOCIGUAT IN TWO PULMONARY HYPERTENSION INDICATIONS
If approved by the FDA, riociguat will be the first treatment for inoperable CTEPH or persistent/recurrent CTEPH after surgery and a new treatment for PAH
Whippany, N.J., August 6, 2013– Bayer HealthCare today announced that the U.S. Food and Drug Administration’s (FDA) Cardiovascular and Renal Drugs Advisory Committee recommended approval for investigational riociguat, proposed trade name Adempas™, in two forms of pulmonary hypertension. The Committee voted 11 to 0 that riociguat should be approved for the treatment of pulmonary arterial hypertension [PAH] of WHO1 Group 1. The Committee also voted 11 to 0 that riociguat should be approved for the treatment of chronic thromboembolic pulmonary hypertension (CTEPH) of WHO Group 4. In February 2013, Bayer submitted a new drug application for riociguat in two indications: (i) the treatment of PAH (WHO Group 1) to improve exercise capacity, improve WHO functional class and delay clinical worsening; and (ii) the treatment of persistent/recurrent CTEPH (WHO Group 4) after surgical treatment or inoperable CTEPH to improve exercise capacity and WHO functional class. “We appreciate the Committtee’s discussion today around the safe and appropriate use of riociguat and are pleased with the outcome of the votes,” said Pamela A. Cyrus, MD, Vice President and Head of U.S. Medical Affairs, Bayer HealthCare Pharmaceuticals. “If approved, riociguat will offer a new treatment option for patients with PAH and will also provide the first approved non-surgical treatment option for CTEPH patients who are inoperable or who have recurrent or persistent disease. We look forward to continued dialogue with the FDA in order to make riociguat available to patients.”
PAH and CTEPH are both life-threatening forms of pulmonary hypertension that cause significantly increased pressure in the pulmonary arteries. Riociguat is an investigational, oral medication for the treatment of adult patients with PAH or inoperable or persistent/recurrent CTEPH. If approved by the FDA later this year, it would create a new class of therapy available in the U.S. PH is associated with endothelial dysfunction, impaired synthesis of nitric oxide (NO) and insufficient stimulation of soluble guanylate cyclase (sGC). Riociguat stimulates sGC independent of NO and increases the sensitivity of sGC to NO. Data presented at today’s advisory committee meeting included results from the global Phase 3 clinical program, which enrolled 704 patients across two Phase 3 studies. Both studies met their primary endpoint by demonstrating a statistically significant improvement in the six-minute walk test (6MWT), after 16 and 12 weeks respectively. Riociguat was also associated with improvements across multiple, relevant, secondary endpoints in the studies. The most common treatment-emergent adverse events with riociguat were headache, dizziness, dsypesia, peripheral edema, nausea, diarrhea and vomiting. The advisory committee’s vote will be taken into consideration by the FDA when making its decision on the approvability of Bayer’s NDA for riociguat, which was submitted in February 2013. After acceptance of the NDA, the FDA granted riociguat priority review designation, which is given to drugs that have the potential to offer significant improvement in treatment or provide a treatment option where no adequate therapy exists. About Pulmonary Arterial Hypertension (PAH) In PAH, a rare and life-threatening disease, the blood pressure in the pulmonary arteries (the arteries that take de-oxygenated blood to the lungs from the heart) is significantly increased. PAH is characterized by morphological changes to the endothelium of the arteries of the lungs causing remodeling of the tissue, vasoconstriction and thrombosis-in-situ. As a result of these changes, the blood vessels in the lungs are narrowed, making it difficult for the heart to pump blood through to the lungs. In most cases, PAH has no known cause and, in some cases, it can be inherited. About Chronic Thromboembolic Pulmonary Hypertension (CTEPH) CTEPH is also a rare and life-threatening disease in which it is believed that thromboembolic occlusion (organized blood clots) of pulmonary vessels gradually lead to an increased pressure in the pulmonary arteries, resulting in an overload of the right heart. CTEPH may evolve after prior episodes of acute pulmonary embolism, but the pathogenesis is not yet completely understood. The standard treatment for CTEPH is pulmonary endarterectomy (PEA), a surgical procedure in which the blood vessels of the lungs are cleared of clot and scar material. However, CTEPH is inoperable in an estimated 20 to 40 percent of patients, and, in some cases, the disease persists or reoccurs after surgery. About Bayer HealthCare Pharmaceuticals Inc.Bayer HealthCare Pharmaceuticals Inc. is the U.S.-based pharmaceuticals business of Bayer HealthCare LLC, a subsidiary of Bayer AG. Bayer HealthCare is one of the world’s leading, innovative companies in the healthcare and medical products industry, and combines the activities of the Animal Health, Consumer Care, Medical Care, and Pharmaceuticals divisions. As a specialty pharmaceutical company, Bayer HealthCare provides products for General Medicine, Hematology, Neurology, Oncology and Women’s Healthcare. The company’s aim is to discover and manufacture products that will improve human health worldwide by diagnosing, preventing and treating diseases. Bayer® and the Bayer Cross® are registered trademarks of Bayer.
Intended for U.S. media only Media Contact: Marcy Funk, Communications, Bayer HealthCare Telephone: (862) 404-5385 E-Mail: firstname.lastname@example.org
Forward-Looking Statements This release may contain forward-looking statements based on current assumptions and forecasts made by Bayer Group or subgroup management. Various known and unknown risks, uncertainties and other factors could lead to material differences between the actual future results, financial situation, development or performance of the company and the estimates given here. These factors include those discussed in Bayer’s public reports which are available on the Bayer website at www.bayer.com. The company assumes no liability whatsoever to update these forward-looking statements or to conform them to future events or developments.Posted in About Us, Diseases, Featured | Tagged Adempas, Amy Magro, anti fibrotic agent, antiepileptic, ASCEND Phase 3 trial, Bayer, Bayer HealthCare, blood clots, child treatment, chronic, clinical, clinical trial, complex partial seizure, complex partial seizures, connective tissue diseases, CPS, CTEPH, cytokine, disease, drug, drugs, dyspepsia, endothelial dysfunction, endothelin receptor antagonists, Epilepsy, Epilepsy Foundation, ERA, FDA, fibrosis, Food and Drug Administration, gastritis, Healthcare, idiopathic pulmonary fibrosis, inter mune, intermune, ipf, jonathan leff, Lundbeck, lung disease, macitentan, Marcy Funk, Matt Flesch, monotherapy, News release, opsumit, orphan fibrotic disease, partial seizure, partial seizures, Patient Assistance Program, pff, PH, PHA, Pharmaceutical, Philip Gattone, pirfenidone, prostanoids, pulmonary endarterectomy, Pulmonary Fibrosis, pulmonary fibrosis foundation, Pulmonary Hypertension, Pulmonary Hypertension Association, Pulmonary Veno-Occlusive Disease, rare, refractory, refractory CPS, REMS, Rino Aldrighetti, riociguat, Risk Evaluation and Mitigation Strategy Program, Sabril, seizure, seizures, sgc, SHARE, SHARE program, soluable guanylate cyclase, thromboembolic occlusion, thromboembolic pulmonary hypertension, treating children, treatment, University of California San Diego, vigabatrin, vision loss, World Health Organization | Leave a comment May 7, 2014
Six-time log rolling and boom-running champion Shana Verstegen (née Martin) has been featured on ESPN, The Travel Channel, and Outdoor Life Network. Verstegen’s sports of choice demand a daunting blend of strength, balance, endurance, and agility.
The physical state that allows the 34-year-old athlete and fitness trainer to stay atop logs that are bobbing in water while spinning them with her feet, and win by making her competitor lose her balance is complemented by her training in pole vaulting, gymnastics, and karate.
In 1986, Verstegen’s mother, Deborah Martin, was diagnosed with Huntington’s disease. Martin succumbed to respiratory complications from the disease in March 2013. Verstegen, who married her husband, Peter, in November 2013, has not been tested for Huntington’s. Community spoke to Verstegen about her plans for the future, her mother’s legacy of strength and determination, and the freedom Verstegen finds in log-rolling.
I first learned about Huntington’s disease in our hotel room at the Mayo Clinic. My dad set out a bunch of materials provided by the Huntington’s Disease Society of America (HDSA) about what Huntington’s disease is, what to expect, and caregiving.
My parents sat down and explained to me exactly what to expect over the next several years, and how my mom would lose her ability to walk, talk, and care for herself. But they also showed me all the research that was happening.
My dad said, ‘All these people are working really hard to make sure that your mom gets better.’
And then my dad flipped a coin.
He said, ‘These are your chances of also having Huntington’s disease.’
My question was, ‘Well, which one is it? Heads or tails?’ He said, ‘I can’t tell you that.’ But… he always went right back to: ‘All this research is happening.’
He truly believed they would have a cure before it came to my time. Unfortunately, they don’t yet.
I began log rolling at the YMCA swimming pool. I loved the fact that it was so unique and fun! Log rolling has always been my escape. As a child, when I showed up for practice, nothing else in the world, not even how sick my mother was, bothered me. It was my time to have fun with friends and do something I love. It still is!
What I think is most important for caregivers and those newly diagnosed with Huntington’s disease to know is that life is not over upon diagnosis. No matter what challenge we face, we all need to live life to the fullest and love and appreciate those closest to us.
With my career as a fitness professional and all of my athletic competitions throughout the year, daily workouts are part of my life. I don’t think of [the possibility of ] delaying Huntington’s disease while I exercise, just about having fun and performing well. If I do have the disease, of course, a delayed onset would be a wonderful benefit.
After my mom had to move into a nursing home for safety reasons in 1993, my dad and I made a promise to spend time with her at least once every week. This became our ‘family day.’
While she was still mobile, we would go on various adventures around southern Wisconsin and out to eat. When she was no longer able to leave the nursing home, we would spend time there, telling her about what was new in our lives and watching movies. After her passing in March of 2013, my dad and I continue this weekly tradition of family day.
My mother used her battle with Huntington’s disease to teach some very important lessons. She taught us to smile, to give, to be strong and independent and stubborn—to fight for what we believe in, to love unconditionally, embrace family, live every day to the fullest, and to sing.
My life is absolutely amazing now, and part of it is because I can hold onto hope. I fear a positive test result will take that hope away from me. But through my involvement with HDSA, I’ve met so many people who are positive with Huntington’s disease and are living their lives just as fully as I live mine.
This year may mark a change in my decision to not be tested, but that is a decision my husband and I will have to make after much thought.
As for the future, I will continue packing 30 hours into each 24-hour day, and working my hardest to do my part to find a cure for Huntington’s disease. I also, more than anything, want to become a mom.Posted in About Us, Diseases, Featured | Tagged boom running, caregiver, caregiving, deborah martin, fitness, HDSA, huntingtin, Huntington's, Huntington's Disease, huntington's disease society of america, log rolling, shana martin, shana verstegen, sport | Leave a comment April 28, 2014
Many persons impacted by a chronic illness reach a point where they can no longer work. To help allow for continued income and insurance, Caring Voice developed a Disability Program to help individuals understand the complicated issues involved in proving entitlement for disability benefits. By providing accurate information about Social Security programs and the benefits that you and your family may be eligible for, CVC provides guidance in determining whether applying for disability is right for you.Featured, How We Help | Tagged Caring Voice, Caring Voice Coalition, caring voices, caring voices coalition, chronic, CVC, Disability, disability application, disability benefits, eligibility, eligible, illness, social security | Leave a comment April 28, 2014
Nicole Murray talks to Community about pairing her love of running with raising awareness and funding for her son Ronan’s infantile spasms (IS) and offers advice for parents of children who’ve been recently diagnosed with IS. Murray ran in the 2013 Philadelphia Marathon as an Epilepsy Foundation Athlete vs. Epilepsy.
Ronan was officially diagnosed in late April 2012, at four months old, via video EEG, though he was having clinical spasms in March. It took nearly five weeks for his clinical spasms to evolve to infantile spasms and hypsarrhythmia on the EEG.
The moment he started having them, I knew they were IS. I had read about IS when I joined an epilepsy parent support group and had seen videos of children having IS, so I knew. It’s very different than other seizure types; they don’t look all that terrible, but they are incredibly catastrophic.
I’ve always been a runner. It has always been a great stress reliever for me. I knew that I could pair my love of running with raising awareness for Ronan’s condition, and that’s why I chose to run for the Epilepsy Foundation.
Ronan is defying the odds and breaking the rules. At ten and a half months old, he was not sitting, not babbling, and not self-feeding. He was having anywhere from five to 50 seizures daily. Since the morning of October 23, he has not had one seizure!
He had surgery three months ago, and he’s sitting unassisted, babbling, self-feeding, plus, starting to really bear weight on his legs. His development has taken off, and he’s so happy and alert, despite still being on two seizure meds.
The surgery did leave him with deficits, some of which will be permanent. Some of which, we’ll hope to overcome with intensive therapy.
He does have significant weakness/unawareness on his right side, as his entire left-brain hemisphere is now disconnected/removed, but he’s showing steady progress with arm recovery. His leg has recovered very well. He will have a permanent visual field cut. The right visual field of both eyes will never return.
Right now, we are working hard with seven-plus therapy appointments per week, and celebrating in each and every inch and milestone he’s making.
I’m now back to work, and his therapy schedule (and our other son) keep us very, very busy. I try to get out [to run] at least three, ideally four times a week.
Running helps me feel strong, both physically and mentally. I also never take for granted that I have the physical abilities to run, as I’ve met many children now who cannot.
I don’t know [what marathons I’m running next]! I think I’ll probably be more inclined to sign up for a half marathon first. Training for a full marathon is a serious time commitment. Perhaps Philly again.
Regrettably, I have not been involved with the Epilepsy Foundation beyond raising money via the marathon. Eventually, I’ll become more involved, but right now, Ronan’s therapy and needs are intense. I am involved with several online support groups for infantile spasms and polymicrogyria, and the Hemispherectomy Foundation, among others.
You can follow Ronan’s journey and progress here: https://www.facebook.com/RonanRobertsFanClubPosted in About Us, Diseases, Featured | Tagged athlete vs epilepsy, athletes vs epilepsy, brain surgery, Caring Voice Community, childhood illness, clinical spasms, Community magazine, EEG, Epilepsy, Epilepsy Foundation, hypsarrhythmia, Infantile Spasms, nicole murray, ronan murray, ronan roberts, ronan roberts fan club, seizure, seizures, spasms | Leave a comment April 23, 2014
LPGA golfer Nicole Jeray details her five-year search for an accurate narcolepsy diagnosis and how managing her narcolepsy has improved her game.
I first experienced symptoms of narcolepsy in college. I fell asleep in all my classes. My notes were a scribbled mess because I was asleep. I was fighting so hard to stay awake and listen to lectures.
I also fell asleep while driving. I took a special class in Chicago that was an hour-and-15-minute drive from campus, and I’d fall asleep every single time I drove back. I’d take the wrong exit and get lost going back to campus.
I fell asleep in the summertime driving to far away golf tournaments. I thought it was the exhaust from my old car. I’d roll the windows down and turn the music on high to help me stay awake. I guess I got used to being sleepy and fighting it—it just became a part of life. I had very vivid dreams and sleep paralysis in college. I thought this was normal, and my friends enjoyed hearing about my wild dreams.
I played lots of sports as kid. I was very athletic and had excellent hand-eye coordination. Golf was just another sport at first. When I was 15, I started working at a golf course, and it was then that I became addicted to the game.
It was five years between the onset of symptoms and an actual narcolepsy diagnosis, and I was only diagnosed because I developed severe cataplexy. In those five years, I went to several doctors looking for answers. ‘Overworked’ was the only diagnosis I received. I took vitamins and even became a strict vegan in an attempt to find more energy.
After a year and a half of eating this way, my symptoms never improved, and I developed severe cataplexy. I was lucky to see a doctor who listened to me and researched further to find an answer. Finally I heard the word ‘narcolepsy.’ One week later, I saw a neurologist and did a sleep study and found that I had a classic, textbook case of narcolepsy.
I was relieved that there was a name, and that I was not going to die. I would be able to continue to pursue my golf career. Little did I know, that day was only the beginning of a long roller coaster ride and a terrific education on life.
I have to force my mind to think about something else to try to prevent cataplexy. It stinks though, to not be able to enjoy the excitement like you want. I became quite good at remaining even-keeled, never too angry and never too excited. It’s built into my personality now.
Sometimes I picture that little kids might be watching, and I don’t want to scare them. It’s pretty traumatic watching someone suddenly become totally limp and fall to the floor. Becoming the center of attention and ruining a fun moment for people is no fun. It happened a lot, but diverting my attention would help.
Having narcolepsy taught me to appreciate each waking moment! I learned to set priorities. Important things must come first—when I have the energy.
I also learned how to say ‘no.’ I used to do everything that was asked of me, and more. Now, I do things that I actually enjoy and the things I want to do. Life is much happier and easier. Funny, it took getting narcolepsy to learn this.
I like that I’m more even-keeled. It’s less stressful, and less dramatic. I watch other people get so uptight about things, or make such a big deal over nothing. It seems unhealthy, and it drains energy.
My visualization skills have also improved. I must visualize and believe that I’m going to hit that shot just right. This way, when I do hit a great shot, it’s no surprise, and I don’t get so excited and have full cataplexy.
Narcolepsy also taught me how to take care of myself. When I do, my symptoms are much better. I drink plenty of water, eat the right things, maintain a sleep routine, good friends, and healthy relationships. It now baffles me that I didn’t do all these things before. Why does it take a life-changing disorder to figure out what the important things are in life?
I finished 113 on the LPGA money list in 2013—it’s the best I’ve finished on the LPGA since being diagnosed with narcolepsy in 1996. This position will get me into between 10 and 17 events in 2014. I’m also doing the Swinging for Sleep online fundraising campaign again in 2014 to promote narcolepsy awareness, research and patient support.
I care so much about my career that I must take extra care when it comes to managing narcolepsy. I must be extremely aware of how my body and brain feel so I can perform my best. I pay attention to the things that make me sleepier or more alert.
Golf helps narcolepsy in many ways. I’m outside and in sunlight, golf is active, and I set my own schedule. The longest I generally have to be alert and awake is about six to seven hours—which used to be extremely challenging before my latest medication change. I spend a lot of time in the gym because of golf. This has to help my narcolepsy.Posted in About Us, Diseases, Featured | Leave a comment April 21, 2014
Community spoke with 22-year-old New Zealand champion triathlete Michael Poole about his sport, his love of adventure, and his discipline in dealing with epilepsy.
My epilepsy was first diagnosed when I was 17 or 18 years old. I was in two situations where I had grand mal seizures about 13 weeks apart.
It was a difficult time, as my sport involves activities (swimming and cycling) that have risk attached, but I had good doctors and great advice that I’ve followed very closely. The medication I’m on appears to have worked well too.
Growing up in New Zealand, there is every opportunity to be active. I played a lot of soccer early, but also loved running races. At 13, I started cycling and then did a couple of triathlons and realized I had to learn to swim a lot better.
Through some great coaching and lots of hard work, by the time I had left high school in New Zealand, I had won national titles in triathlon, duathlon, multi-sport, cycling, cross-country running, and road running. I had also represented New Zealand internationally in both cycling and triathlon.
For those newly diagnosed, I think it’s important to get as much accurate information as you can from experts. Don’t panic. Follow advice really closely. Don’t put aside ambitions. Talk about things when you are ready.
Some of the most important things I’ve learned from being an athlete are that it’s really hard work on a daily basis, and you have to take things one day at a time. I’ve been able to travel to a range of countries—China, South Korea, Japan, New Caledonia, Australia, Costa Rica, and Barbados, and to 20 cities in the U.S.—you learn a lot about people and places.
Being disciplined around my risk factors is hard—sleep, diet, remembering to take meds. Being concerned about misunderstandings can be hard too. I have to declare my condition on race entries, but so far organizers have been really good and low-key. When we were first working through that, it was hard, as the restrictions placed on me the first six to 12 months after diagnosis were strict for driving, cycling, and swimming.
I’m a full-time chemical engineering student at the University of South Florida. I have high expectations and work very hard. To be a full-time student, full-time athlete living in a country I did not grow up in has real challenges.
I race often. On January 19, I raced in a world-class field in Auckland over a half-iron man distance. I then have more races in New Zealand and one in Australia before heading back to the U.S. in mid-February.
I will then look to race approximately 20 times across the U.S. during the year. It’s always challenging, as many world-class athletes come to the U.S. to race, but lots of learning and development are available. Financially things are also tough—I pay full international fees, plus away-from-home living costs. Triathlon is an expensive sport in many ways—getting sponsorship is tough—and the major results do not come until your mid to late twenties. So a week-by-week challenge is finding enough financial backing just to keep moving forward as a student and an athlete.
What is most rewarding about being a triathlete are the challenges of continuous improvement and the overcoming of all the strategic life problems that go with the sport. It is a very difficult sport.
I offered my profile to the Epilepsy Foundation to assist in any way they saw fit, and their Athletes vs. Epilepsy initiative fits really well. If I can in some way encourage people with epilepsy to be out and be active, it can only be a good thing. People are very welcome to contact me through: www.facebook.com/michaelpooleprofessionaltriathletePosted in About Us, Diseases, Featured | Tagged athlete, athletes vs epilepsy, cycling, diagnosed, Diagnosis, Epilepsy, Epilepsy Foundation, grand mal, Michael Poole, rev3 half ironman, seizure, seizures, sport, swimming, triathlete | Leave a comment April 14, 2014
American Hockey League player Jake Dowell is center and team captain for the Iowa Wild. Dowell’s father, John, and his brother, Luke, have Huntington’s disease, and are cared for in an assisted living facility. Dowell has not been tested for Huntington’s. Community spoke to Dowell about the challenges his family faces and the escape that hockey gives them.
The first thing that drew me to hockey was that my older brother wanted to play. It was a sport that didn’t come naturally to me, like baseball or football, and my dad wouldn’t let me quit. He wanted me to have to work through something and have the feeling of achievement once I did see progress.
What I enjoy most about hockey is the release that it gives me. I have dedicated most of my life to it and to get to the NHL. Having that chance to play in the best league in the world has been what makes it fun and always worth the tough times when it seems so much like just a job.
If I wasn’t playing hockey, I think I’d be a guidance counselor at a high school. I like to work with kids and think that I have the ability to relate and help kids that need a little direction in their life.
I first learned about Huntington’s disease when my dad was diagnosed when I was in high school. At the time, I was living with a host family in Ann Arbor, Michigan, while I was playing hockey, and my parents were in Wisconsin. So it made it a little more rough to handle news of that level and not be able to be around to help or understand completely what our family was in for at the time.
Hockey has always been a stress reliever for me and lets me get away from the family issues and personal issues off the ice. It has also been a way that my whole family has been able to have a little getaway from Huntington’s disease by coming to see me play or watching me play on TV.
Caregivers are the most important people in this whole thing. I admire my mom and what lengths that she has gone through and sacrificed of herself in order to make sure my dad was always the main priority and taken care of.
With that said, it has been extremely hard on her, and if I can give any advice, it would be to make sure you take some time for yourself to still have a life of your own with friends and family. It is so stressful on the caregiver, that if you don’t take time for yourself, your own health may start deteriorating.
I go and see my dad and brother as much as possible in the summers. I don’t see them during the hockey season much, and now they are at the point that neither can say much. My dad is completely dependent on people to help him move or do anything, so we really just sit there, and it’s pretty quiet, but I know he enjoys the company. And the same goes for my brother.
I have learned a lot from my dad and brother over the years, but they have been sick for so long that the main thing I take from them is that even though they were both handed an extremely difficult and miserable disease, they never complain, and they just deal with it.
My mom has taught me more than I can really put into words, but if I had to point out one thing, it is how to handle adversity and how to put others’ needs first. And if I could teach my mom one thing, it would be to learn to balance when to put her own needs first once in a while.
I met my wife when I was first out of college at the University of Wisconsin. I was starting my professional career, and she still had a couple years of school left. We were drawn to each other initially because we had mutual friends, and we really just over time started spending more and more time together. I found myself coming back to Wisconsin whenever I had a break, or she would come down to Rockford, Illinois, where I was playing at the time, and it just went from there.
I am happiest when I am with my wife, Carly, and our English bulldog, Gus, and with our friends and family. I have found myself really reaching out and having a number of extremely close friends that my wife and I spend a lot of time with, and sometimes that fills the void of not having my dad or brother around to spend time with. I have also gotten extremely close with Carly’s dad. He is someone I look up to and has filled a father figure void for me as well.
We plan on having children in the future—we just don’t know how distant in the future it will be. I need to get tested for Huntington’s disease before we try to have children, so that complicates things a bit.Posted in About Us, Diseases, Featured | Tagged caregiver, caregivers, caregiving, hockey, Huntington's, Huntington's Disease, Iowa Wild, Jake Dowell, NHL | Leave a comment April 7, 2014
In 1996, British rower Sarah Winckless’s mother, Valerie, was diagnosed with Huntington’s disease. Soon after her mother’s diagnosis, Winckless herself tested positive for the Huntington’s gene mutation. She went on to win two world championships and to compete in three Olympics, winning the bronze medal in double sculls with partner Elise Laverick at the 2004 Olympic Games in Athens.
Retiring from rowing in 2009 to pursue other challenges, in 2010, Winckless climbed Mt. Kilimanjaro with her brother, Charlie, and in 2012 completed a bike ride between London and Paris to raise funding and awareness for Huntington’s disease. She is now a motivational speaker, coach, regatta umpire, British Olympic Association Athletes Commission Chair for Sochi 2014 and Rio 2016, and patron of the Scottish Huntington’s Association.
Winckless’s mother now requires 24-hour care, but was able to watch Winckless receive her Helen Rollason Sportswoman of the Year Award for Inspiration in December. In a 2010 interview with Scotland’s Daily Record, Winckless said, “My Olympic effort was nothing compared to what my mum battles with every day of her life.”
Community spoke with Winckless about recent developments in Huntington’s research, the importance of positive thinking, and her plans for the future.
What I think is most important for those newly diagnosed with Huntington’s disease to know is that anything you’re feeling is normal. There’s no right or wrong way to deal with it.
For me, knowledge is power—to understand enough about the disease to know that there are some things you can control. We have a duty to take care of ourselves by exercising, eating, and sleeping well. Look for the bits you can control and enjoy controlling those areas.
Sport will always be something that lifts me and makes me feel better. I run, cycle, and row. I exercise about seven or eight hours a week. [If exercise can result in a delayed onset of Huntington’s disease] it gives me a great excuse.
My mother taught me things. She did really well. She has an absolutely brilliant spirit. She used humor, keeping it light, laughing at herself at times. I guess it’s called black humor.
Mum got diagnosed in 1996. I could clearly see that something wasn’t working. When I got the name ‘Huntington’s,’ it really helped me.
For me, testing positive didn’t feel any worse than being at risk. I wanted to get the test done as quickly as possible. It was a very simple decision for me.
As patron of the Scottish Huntington’s Association, I do what I can for Scotland. It gives me huge strength as well, and I have the privilege of working with some amazing young people.
For me, climbing Mt. Kilimanjaro was a double-pronged motivation. It was a real opportunity to do something different, something special, while spending seven days with my brother and doing something for my charity.
I also wanted to see what my body would do at that altitude. At 4,700 feet, I was happy. Then, I got the worst headache I’ve ever had in my life. I redecorated Kilimanjaro by being sick, but my brother and I both made it to the top.
My dad and stepdad were rowers. I also did discus and played basketball at Cambridge. I started to row, and it was brilliant to already be a trained athlete trying a new sport. Gladiatorial side-by-side rowing is, I think, what I was born to do. It fit my physiology and my psychology.
When you do sport, you find yourself, in a deep, psychological way. You find out how to think positively. My thinking affects my feeling. I believe you can choose your mood, although some days are more difficult than others.
As a motivational speaker, I talk very much about setting your goals high. We’re all capable of more than we think we are. Get on the start line and have a go.
Where does courage come from? I think it’s really unique. Quite often, we need someone else to give us that first push. If you’re someone who finds it within yourself, tap into that. Be accepting that we’re all different.
In the past, the huntingtin protein has been seen as the enemy. Now we see it as the body’s defense. As understanding and the ability to study the gene gets greater, it’s an exciting time for science. I do a lot of work with the brain. I am always tempted to study more, but that’s not the path I’ve chosen.[Having studied chemistry at Cambridge] for me it’s been a really interesting dance with how much I look at research. I am incredibly excited at some of the developments in the last few years. The possibility of turning off the gene not long ago would have been considered a sci-fi type of thing, as would passing drugs through the blood-brain barrier.
I’m asymptomatic, touch wood, [but] I would absolutely participate in clinical trials. I’m in some of the studies. I’d love to be part of the solution in that way.
I’ve got hundreds of plans for the future. I’ve loved working in elite sports. I enjoy leadership, coaching to top business people and top junior athletes, helping others to be as good as they can be.
I’ll be the keynote speaker at the CHDI conference in Palm Springs in February. I’ll also be picking the brains of some of the scientists there. It’s always inspiring being around high performers.
In the HD community, I’m looking forward to the anniversary of SHA, the Scottish Huntington’s Association, which will be twenty-five years old on November 21. I’ll be doing summer camp for young people in July and a 40K run in March in Sweden for a young persons’ group there.
I’ve also just been given an allotment (a plot of ground given to citizens by the British government for planting), and I will be perfecting the art of vegetable growing. For someone who’s come from a competitive environment, the pace is probably a bit different.
Everyone has good days and bad days. Grab and enjoy the good days. Be good to yourself on the bad days.Posted in About Us, Diseases, Featured | Tagged 2004 Olympics, British Olympic Association Athletes Commission, gene mutation, helen rollason, huntingtin, Huntington's, Huntington's Disease, Sarah Winckless, Scottish Huntington's Association, SHA, sportswoman of the year | Leave a comment April 3, 2014
Several months ago Caring Voice Coalition participated in a survey rating the best nonprofits to work for. It is with pride and gratitude that we announce that CVC has ranked in the top 50 for the third year in a row.
This year CVC rose to #29 out of 50 overall organizations and #13 in the Small Organization category. Click here to see the results of the 2014 survey by The NonProfit Times.Posted in About Us, Diseases, Featured | Tagged award, benefits, best non profit, best nonprofit, nominee, non profit times, non-profit, nonprofit, nonprofit times, NPT, organization, satisfaction, winner | Leave a comment March 31, 2014
Marlene Buchanan shares what she’s learned as she marks a quarter-century living with alpha-1 antitrypsin deficiency.
I first became symptomatic 25 years ago, when I was 50. Not many people knew about Alpha-1 then.
I started to have respiratory symptoms. I was a swimmer and a schoolteacher—I taught hyperactive kids. One day, I stopped at the Y and could only swim two or three laps. I couldn’t breathe. It scared the bejesus out of me. That really set me on the path to find out what was wrong with me.
Not too long after that, my son came to visit me. He flew in from Denver and, he, too, had respiratory symptoms. The doctor gave him an adrenalin inhaler and never said ‘Alpha-1,’ but told him to get tested.
After getting tested, my son said, “Oh Mom, I have some genetic disease. I don’t have to worry about it right now.”
When I told my doctor about my son’s diagnosis, he said, ‘My god, Marlene, you have Alpha-1!’ I was tested and put on therapy immediately.
I thought it was some freak disease. I did not talk about it for many years. Thursdays, after school, I had weekly Alpha-1 infusions. For 12 years, I didn’t tell anyone. I lived as an Alpha island. I only told a couple of my very best friends, and my son and my husband knew. I was afraid that I would be treated as a sick person and stigmatized.
I had a condo in Florida where I went in the winter when I could no longer teach. At 60, handling a classroom full of kids became too much. I took a sabbatical at about 62 and went on Social Security.
I was very symptomatic for the first year. While I was in Florida, I went to the University of Florida in Gainesville to a wonderful Alpha-1 doctor. He put me on a stronger dose of medication, and I bounced back like a ball. I’ve had a couple of pivotal points in my life where the right doctor did the right thing.
Dr. Friedrich Kueppers, who diagnosed the first Alpha patient in the U.S., contacted me, and we started a support group at Temple University. I had never met another Alpha until that day. I walked into the room and burst into tears. I was the leader of that group for probably 15 years. I’m still very much involved in it. Along the way, I’ve learned a lot.
About ten years ago, I went to work as a patient advocate and mentor. Over the years, I have talked to literally hundreds of Alphas. My big thing is making a difference, and I feel like I have.
One of the most important things I’ve learned is that keeping a positive attitude is the best treatment. I’ve also learned to use the resources available to us and to share those resources with other Alpha patients. Most of all, I have learned over and over again that it’s possible for any of us to make a difference in the lives of others. Alpha-1 is not a death sentence.
I went to Ireland three times to do research on my family’s Alpha-1 history. My mother’s family said, “You didn’t get this from us.”
I knew that my grandmother couldn’t breathe, and that one of her sisters had gone back to Ireland. People talked about her son being in a rest home there. He had bad allergies and couldn’t breathe.
Nobody in my parents’ generation presented with Alpha-1 on either side. None of the siblings had it. No one else had it other than my son and me. I have two grandsons who have been tested, and the younger one is a carrier, like his dad. That was very difficult for me. He’s eighteen years old now, and he has been healthy.
My husband and I live in greater Philadelphia in a life-care community run by Quakers. We’ve been there for two and a half years. It works beautifully for me. We have a lovely apartment, and I can manage life. I’ve only had one Alpha-1 exacerbation, and I’m healthy and fine.
I like to live with this disease creatively. It has not been my identity. I have moved forward in my life, and I’m very proud of that. I’ve never let it get me down. It’s not who I am.
How do I empower myself? I learn everything that I can about it. I share it with hundreds of Alpha patients. In serving so many, it has made me strong and given me more to offer other people. I do believe that making a difference and the many patients in the Alpha community have sustained me.
One of my mentoring patients, who has become a patient mentor herself and is doing a marvelous job, hadn’t told me what I meant in her life, that I had become a role model for her.
Then, she gave me a gorgeous sterling silver angel for my new Christmas tree and told me that I’m her Alpha angel. Bringing newly diagnosed Alpha-1 patients out of their confusion and depression—that’s what my life has been about for the past 25 years.
In my spare time, I still do water walking classes at the pool. I also like to participate in discussion groups. I’ve become very social as I’ve grown older. My other thing is shopping. I have the clothes now that I didn’t have as a kid growing up in Pittsburgh.
The whole center of my life has been meaningful relationships with people. I did enjoy skiing. Now I enjoy the snow and the birds. I’ve become quite a gardener and a bird watcher.
I transformed a mud world in the yard of our previous home and landscaped it. I grew, and as I did, I planted more and more flowers and shrubs. I have a small garden that was on the garden tour last spring.
Now, I’m watching the birds feeding in the snow and feeling very grateful for what I have in life. I have planted significantly. It gives me so much pleasure to watch everything grow. I taught special education kids; language-disordered kids. I watched my students blossom and grow and operate in the real world.
What I’d like newly diagnosed Alpha-1 patients to know is that there are organizations like Caring Voice Coalition to help them. Life isn’t over because they’ve been diagnosed with Alpha-1.
I can almost see Alpha-1 as a gift in my life. Reading and learning about Alpha-1 and meeting patients is a joy I would not have had, had I not been an Alpha-1. We all belong to the same family. If a new patient can get that, they’re good to go.Posted in About Us, Diseases, Featured | Tagged Alpha 1, alpha1, antitrypsin deficiency, genetic disease, Marlene Buchanan, respiratory | 2 Comments March 24, 2014
New York-based singer, songwriter and musician Chloe Temtchine has won rave reviews and awards for her solo work and collaborations with other top music industry artists. On March 29, 2014, Temtchine’s new song, “Be Brave,” will be released on iTunes, with fifty percent of the proceeds benefiting PHA. Diagnosed with pulmonary hypertension in 2013, Temtchine performs with her oxygen tank, which she has dubbed “Steve Martin,” alongside her. Community spoke with Temtchine about life, music and pulmonary hypertension.
When did you start singing and songwriting? Who and which styles are some of your biggest influences?
I started singing at about the age of six. My father used to take me to a Baptist church in Harlem, on Sundays, where I listened to gospel music for hours. That’s where it all began.
I’ve always had very eclectic taste in music: from artists like Edy Phenomene (French dancehall), to Smokie Norful and Kim Burrell (gospel), to Stevie Wonder and Sam Cooke (R&B/soul), to James Vincent McMorrow and Ray Lamontagne (singers/songwriters), to Eric Reed (jazz). The list could go on forever.
When and how were you first diagnosed with pulmonary hypertension? What were your initial symptoms?
In March 2013, after my cardiologist reviewed an echo and listened to my heart, I was diagnosed with severe pulmonary hypertension and was rushed to the ER. The shortness of breath, lung pain, and fatigue that had started five years previously had become progressively worse, and I had reached a point where I could barely move. Getting to the bathroom was a major accomplishment! Then my heart started beating out of my chest. And then, together with the continued chest pain that accompanied every breath, I suddenly put on 10 pounds of water weight overnight.
What is “Be Brave” about?
After being diagnosed, I found myself spending so much time trying not to die that I had forgotten to live. “Be Brave” is about making the choice to live.
Every time I went to the hospital, I came home feeling that there was very little hope. I realized that if I didn’t shift my consciousness quickly, my condition would continue to get worse.
I’m a big believer that our minds play a huge role in the state of our health. Keeping my mind in the right place is so important to me that I decided to write a song about it. I wanted to remind myself, and anyone else going through a similar experience, that any challenge had the potential to be an opportunity.
What inspires you in songwriting?
I’m much more comfortable expressing myself through song. Music captures the way I feel in a way that words without melody can’t seem to do.
Although I would do just about anything not to have pulmonary hypertension, I’ve understood through this process that there are many lessons I’m meant to be learning. I am very grateful for the perspective it has given me with regard to my life.
My biggest challenge was seeing a future when I was told that it was highly unlikely that I would have one. This continues to be my biggest challenge.
What do you think is most important for the newly diagnosed to know about pulmonary hypertension?
For the newly diagnosed, I would say: Surround yourself with positive people who instill hope in you, eat a very healthy diet (plant-based, if possible), go to pulmonary therapy, focus on other people’s success stories, and most importantly, believe that it is possible to get better no matter what you’ve been told.
How does being a singer, musician and songwriter help you deal with pulmonary hypertension?
I think that being inspired and passionate in general is helpful to anyone. I also think that it’s very important to express yourself in order to keep yourself in balance. Through music, I’m able to get out all of the things that I would otherwise potentially keep in.
What is next for you in terms of treatment for PH?
I’m not totally sure at the moment. Because there is a belief that I may have pulmonary veno-occlusive disease in addition to PH, my doctor is going very slowly with the medications, which I’m very grateful for. Lung transplantation has been suggested, and although I’m thankful that it exists as an option, my goal is to stay away from it, if at all possible.
What’s next for you in music?
My next goal in music is to finish writing the album I began when I got out of the critical care unit and to perform as much as possible.
What do you enjoy most about music?
I love that music has always had the ability to completely alter the way I feel. It has helped me be hopeful during very difficult times. I love the idea of creating something that could not only alter my own state, but that also has the potential to alter the state of someone else who may be in need of some state-altering!
—ELPosted in About Us, Diseases, Featured, Uncategorized | Tagged be brave, chloe temtchine, Lung Transplant, music, PH, PHA, Pulmonary Hypertension, Pulmonary Hypertension Association, Pulmonary Veno-Occlusive Disease, singing, veno occlusive | 3 Comments March 19, 2014
I’ve been with Caring Voice Coalition for about two years and in Virginia for about eight. I’m originally from Middletown, Connecticut.
I originally got into programming as a hobby. When I was young, I was into making things out of Constructs and Transformers with my cousin, and I was developing games in DOS systems as school projects. I’m still into pretty much everything I was as a kid. I’ve been programming ever since I was 15 and hope to continue in it.
I live with my fiancé, my sister, and her fiancé. I have a four-year-old son, Griffyn, who is also interested in tech. I have him playing
a game—Minecraft–it’s a 3-D world where you can build whatever you want. You can build worlds that have castles and dungeons, and you can set up switches and hubs to make electronics. He’s really into it—that, and Legos.
Of my family, I think I’m most like my dad. He’s an honest person, who’s upfront about things. He’s inquisitive and works in IT too. I remember when I was little, and he worked repairing things at RadioShack, going with him and taking things apart.
I got into IT because I wanted to make artificial intelligence. The first thing I made was
a Tic-Tac-Toe game you could play against a computer.
CVC has the best goals of any place I’ve worked. It’s a really nice place to be, and it’s filled with a lot of friendly people. It feels good to work here.
In my job, I don’t get the same connection that people in our contact center get talking with patients on the phone. I’m in front of the screen eight hours a day, but I feel good about what I do here.
I want to see my team succeed and to see CVC as an organization succeed and grow. I want to be a part of that.
In IT at CVC, we all have a hand in going out and talking to other departments, finding out what they want, and meeting those needs. We go out in teams to get multiple perspectives from different departments.
In my spare time, I like to program. I enjoy programming language—I’m passionate about programming computers. It’s fun for me, something I can get my head into, and thrive in. In programming, I can picture how everything relates. I admire Stephen Wolfram; he wrote a book about computational geometry—how simple patterns build into more complex systems.
I’m also into reading and thinking about artificial intelligence. I like odd, bad-sounding indie music. I have some math projects I’ve been working on for three or four years, and I like to draw too.
What I think is important for people to know about CVC is that there are no strings attached. When they’re diagnosed, I’m sure it’s world-shattering. People expect strings to be attached to the grants. They don’t expect them to be a gift.Posted in About Us, Diseases, Featured | Leave a comment March 12, 2014
Adrienne Altamirano describes her young son Noah’s struggles with the infantile spasms that resulted from his tuberous sclerosis.
When we first had Noah, he seemed to always be crying, but it was not a typical newborn cry. He hardly slept. When he was about four months old, he started having these jerking movements. He didn’t do it very often. But the more it happened, the more he would cry. And I thought, ‘This is not right.’
The pediatrician said that maybe he was reacting to really bad heartburn or acid reflux. I had made an appointment with a dermatologist because he also had white, ashy spots on his skin. The dermatologist looked at him, and she looked at me and asked if he had had any weird movements lately. I said that he had. She wanted to get him to neurology, and the neurologist admitted him right away.
They said that Noah could possibly have tuberous sclerosis complex—a genetic disorder that causes benign tumors to grow in the brain and other organs. They wanted to do an EEG of his brain, and an ultrasound of his kidneys.
My husband is a petty officer in the Navy, and at that time he was away. As a military wife, I have to go with the flow. I have two older sons; Moises, who is seven and Aaron, who is 12, and it was very overwhelming.
The test results showed that Noah had tuberous sclerosis, and epilepsy with infantile spasms. He was four months old when the spasms started and seven months old when they diagnosed them.
They put him on medication, and within a day his spasms stopped. He still cries a lot. Naptime is very precious. I try to comfort him, and often that doesn’t work. Sometimes he just has to work it out and cry until he falls asleep.
He has SEGA tumors in a very dangerous position in his brain near his nerve endings.
SEGA tumors are not cancerous or malignant, but can still cause problems. We’re keeping an eye on those. He also has tumors in his kidneys. We’re working on that with the renal doctors. He is beginning to show early signs of autism.
The spasms delayed his development. He didn’t roll over until he was about eight months old. He didn’t start crawling until he was ten months old. He recently started pulling himself up in the crib and standing up at 12 months.
He’s 14-months-old now and still not walking. A week ago, he said ‘Mama’ and ‘Dada’ at the same time. Those were his first words. He has trouble feeding and swallowing.
He can’t have that much table food.
I have to make it small enough for
him to swallow, but he doesn’t want baby food.
I’ve been very fortunate to be able to stay at home and work with him and help him.
We have good days and bad days.
On bad days, he has this horrible, heartbreaking cry. He throws himself around.
Sometimes he hits at his head and pulls his hair. It’s hard to figure out where the pain is coming from. We give him different medications for it. He’s been exposed to so much already. He doesn’t sleep when he has bad days, maybe for 15 minutes.
He’s my baby. To hear him scream and cry is very difficult. I cry when he cries. But I never let go of my faith that we’re going to get through this.
We have great days. When I clean the house, I put on music. He laughs, plays, jumps, and dances in the jumper. He can’t stand by himself yet. He’s still wobbly, but he’s getting there.
Noah loves to be outside, on the beach and the pier, to go for walks in his stroller, to look up at the sky, and go on the swings in the park. He loves Disneyland—the fireworks, the rides, and the characters. By the end of the night, he’s exhausted.
He also loves to wrestle with his stuffed animals in his playpen. I can hear him rolling around, growling at them.
Aaron and Moises are the greatest brothers in the world. To them, there’s nothing wrong with Noah. He loves to play on them and jump on them when they’re on the floor.
He’s been seizure-free for seven months. He started holding his bottle and sippy cup by himself. He’s not a small kid, so it was hard for me to hold him, and the bottle, and the cup. It was a huge step for him, holding them. It was very exciting to see.
I’m a member of the Tuberous Sclerosis Alliance. We have events in Southern California, where we get the parents and children together. I have made so many friends with this alliance. We can call on each other. We call each other ‘the TSC Family.’
Noah will always have tuberous sclerosis. He will always be seizure-prone. We will always have to check that the tumors are not growing, causing pressure to build up in his brain.
A lot of children with tuberous sclerosis are on different points on the autism spectrum. It’s possible that the behavioral issues and autism won’t happen, but seizures
and tumors will always be a part of our lives.
Fortunately, there are military programs for family members with disabilities. Someone will be coming once a week to help him meet certain milestones. He will have a physical therapist, an occupational therapist, and a behavioral therapist, and he’ll attend a special school.
My mother has been a big help and a big support for me. When I need her, she’s there. Aaron, my oldest son, can hold Noah and get him into the high chair. He has taken on the role of the big brother so amazingly. I don’t even have to ask him to do something.
He just automatically does it.
Don’t get me wrong—I cry every single day—but I do what I have to, because this is my son. At first, I thought, ‘It’s not fair,’ but then I accepted it. We’re just going to move forward and keep on going. I take care of him, cherish him, and love every single moment. We don’t know what the future holds, but we’ll get through it with a lot of love and a lot of care.
If you have a story that you’d like to share with CVC, email us at http://www.caringvoice.org/2013/05/share-your-story-2/. Your words can give support to others and let them know that they’re not alone.
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