Featured Posts for the Slider← Previous post Next post → April 8, 2013
Rino Aldrighetti was hired as the first part-time professional staff member of the Pulmonary Hypertension Association. In the years since, he’s assumed the title of President of the organization, enhanced PHA’s scope, built a full-time staff, and advocated tirelessly to increase awareness about pulmonary hypertension. Here, Community talks to Rino about where PHA has been, and where it’s going.
Describe the journey in becoming President of PHA.
In 1998, seven years after PHA’s founding, the organization’s volunteer leadership decided to build a staff. Their first step was to advertise for a part-time executive director. They put an ad in the Chronicle of Philanthropy, running it once.
At the time they were doing this, I was a non-profit consultant. I had just finished a five-year project for one of my larger clients and was getting ready to do what I always did when I was preparing to think through a new direction, begin a three-day retreat. The day before I was to begin, I picked up the Chronicle of Philanthropy and saw a brief two-line ad: “Small rare disease association looking for part-time executive director”.
I responded and was invited to meet with an extraordinary person, Bonnie Dukart, who was PHA’s president. Bonnie, who had been diagnosed with PH shortly after graduating from college, explained to me that the goal was to bring on a person who could increase PHA’s budget so that the organization could do more. Following that meeting, I had the opportunity to meet the board and quickly became aware that I was in the presence of heroes.
I soon accepted the board’s offer and became PHA’s first (part-time) professional staff person in 1999. By 2001, we had increased PHA’s income from $132,000 to $1.1 million and built a small part-time staff. The board then invited me to lead a new full-time staff. The work has always been a privilege.
What are some of the challenges you face when trying to increase awareness or support a rare disease like pulmonary hypertension?
Our greatest challenge in raising awareness about PH is our relatively small numbers. A rare disease in the U.S. is defined as one with 200,000 or fewer patients. PH has 20,000 to 30,000 diagnosed patients.
Given that reality, each person’s decision to make a difference is of enormous importance. At PHA, our mantra is that any person whose life is touched by PH has the right to fight back as much or as little as health and interest allow. Over and over again we have seen what the ability to influence positive change means in people’s lives. We may have 30,000 patients living with this disease, but each has family members and friends, neighbors and medical professionals who care and are ready to help. Harnessing that energy with a strong community is what makes a real difference.
What are some of your goals for PHA for 2013?
In this economic and political environment, organizations that cannot adapt will ultimately decline. At PHA, we have been working hard over the past year to introduce new ways to support our research and patient-serving programs. In December, we opened PHA’s first three chapters – in New York, Chicago and San Francisco. This is a pilot for us to build a professional events structure that will develop a larger population of supporters for our core programming in communities around the country. If we are successful in our first year, we will implement a five-year program to expand the network. It’s an ambitious effort to not only assure our sustainability, but to make sure that our ability to serve the needs of our community is not limited by funding restrictions.
PHA’s early diagnosis program, Sometimes It’s PH Campaign, was launched at our 2012 International Conference and has generated early excitement in the U.S. and other nations. It came about following research indicating that despite all the increased visibility for PH during the past 20 years, the time from onset of symptoms to point of diagnosis has not reduced. This may not have been a problem two decades ago when there were no treatments; however, today with nine treatments and more on the way, getting patients diagnosed so that they can take advantage of these treatments is hugely important.
Why should a PH patient join PHA?
PHA is more than an organization. It’s a community, a place where people understand and help each other get through the challenges of this difficult disease. The strength of the community has value for the individuals who choose to join. It also has value for the whole, for all who live with the disease through our collective ability to develop public awareness, drive advocacy and sustain helping networks. These are things we can only do together and that will create opportunities for better tomorrows for everyone.Posted in Diseases, Featured, Media Center | Tagged PHA, Pulmonary Hypertension, Rino Aldrighetti | Leave a comment March 26, 2013
Today marks the fifth annual Purple Day, a grassroots campaign aimed at bringing global awareness to epilepsy. Purple Day was born from the motivation of an epileptic young woman named Cassidy Megan. In 2008, Cassidy started Purple Day “in an effort to dispel myths and inform those with seizures that they are not alone.”
Since that time, Purple Day has amassed an impressive social media following, as well as various business and individual partners, all helping spread awareness about a misunderstood condition.
Here are a handful of quick facts about epilepsy, featured on the organization’s website:
–Forgetting to take prescribed seizure medication
–Lack of sleep
–Stress, excitement, emotional upset
–Menstrual cycle / hormonal changes
–Illness or fever
–Low seizure medication levels
–Medications other than prescribed seizure medication
–Flickering lights of computers, television, videos, etc., and sometimes even bright sunlight
–Excessive alcohol consumption and subsequent withdrawal
When I was born, everything was fine. But when my umbilical cord fell off, it just kept bleeding and bleeding and bleeding. My mom kept taking me back to the doctor, but no doctor knew what was going on.
So after six or seven doctor visits, my mother had had enough and said she wasn’t leaving until they could tell her what was wrong with me. The doctor did some research and said he thought I had hemophilia. He recommended a blood transfusion, and I’ve been receiving them every two weeks throughout my life.
When I was younger, they’d have to shave the side of my head, because our transfusions were given in the head.
I say “our” because my brother, who was born four years after me, was born with the same condition.
Growing up, I wasn’t allowed to play any sports that could affect my joints. Softball, basketball – couldn’t do it. Really, anything that required strenuous activity were things the doctor told me I could not do.
It was embarrassing in school. You have to tell people about it and explain why you can’t participate in things. No one knows about Factor XIII. No one talks about it. There is still hardly anything on the Internet about it.
It is an invisible disease, sure. The main thing people notice is that I bruise really easily. It’s not a typical, small bruise; they are large, hematoma bruises. But other than that, you can’t tell anything is wrong with me.
I just have to be careful and take precaution. As I get older, I have more problems with my joints. I have to exercise my joints to keep them strong, as a way of avoiding bleeds. But I have to be very careful how hard I push it. It’s like walking around on eggshells every day. If I hit myself with something, or drop a box on my foot, you never know exactly what it’s going to lead to.
I didn’t like talking about Factor XIII when I was younger, but I’ve become a very open person, and I like educating people about it now. People are typically intrigued about the disease because it’s so different.
My doctor once told me that I would never be able to have children. Now I have three kids. I’ve received several calls from people with Factor XIII, wondering how it is possible to have biological children. The risks involved are so great, so people are really curious.
My first two labors went very well, but the third one was very difficult. It got to a point where we just didn’t know how it would end up. But thankfully, everything was all right. And that’s basically how I have to live: a little unsure about what is going to happen on any given day, but remaining happy and thankful for all that I do have.
What Is Factor XIII?
Factor XIII is the protein responsible for stabilizing the formation of a blood clot. In the absence of Factor XIII, a clot will still develop but it will remain unstable. When someone has a deficiency of Factor XIII, the tenuously formed clot will eventually break down and cause recurrent bleeds.
Soft tissue bruising
Newborns may have umbilical cord bleeding
Diagnosis is made by normal coagulation screening tests and a detailed family history.
Posted in Diseases, Featured, Supported Diseases | Tagged blood, Congenital Factor XIII Deficiency, Hukill | Leave a comment March 7, 2013
March is Hemophilia Awareness Month, and the Hemophilia Federation of America (HFA) is doing their part to increase awareness about bleeding disorders. Everyday this month, the HFA is listing a hemophilia fact of the day on their website – a useful tidbit that links to pertinent information regarding bleeding disorders. In addition, the HFA has several events listed on their website in support of Hemophilia Awareness Month.
One of Caring Voice Coalition’s support diseases is Congenital Factor XIII Deficiency, which causes recurrent bleeding of a blood clot. Click here to learn more about Factor XIII.
Below is a list of the hemophilia facts HFA has printed on there website thus far. Will update this post every few days, to add the latest facts.
March 1st fact: In the United States, approximately 20,000 people are living with hemophilia and 1-2% of the population is living with von Willebrand Disease. Learn more here.
March 2nd fact: In 1986, President Ronald Reagan designated the month of March as Hemophilia Awareness Month to bring attention to those living with a bleeding disorder.
March 3rd fact: Hemophilia is when a clotting factor (protein in the blood) is missing. A person with hemophilia bleeds longer than others, not faster. Hemophilia cannot spread like a virus or an infection. Currently there is no cure, but there is treatment. Learn more here.
March 4th fact: Hemophilia is an X chromosome linked condition. Carriers (women/mothers) have a 50% chance of passing the gene onto to either their male or female offspring. Fathers, who are affected with hemophilia themselves, will pass the gene on to all of their daughters, but not their sons. Hemophilia affects 1 in 5,000 male births in the U.S., and approximately 400 babies are born with hemophilia each year. Learn more here.
March 5th fact: The earliest possible reference to hemophilia may have been in the Talmud, a Jewish holy text, which states that if a woman had two sons that died from circumcision, her third son would not be required to have the procedure. Hemophilia played an important role in Europe’s history, when the children of Queen Victoria were born with it, thus naming it “The Royal Disease.” Read more about the history of hemophilia from the National Hemophilia Foundation.
March 6th fact: Approximately 30% of people with Hemophilia A, and 2-3% of people with Hemophilia B, will form an inhibitor to the medicine (called factor) that is used to prevent bleeding. Inhibitors are antibodies that the immune system develops to destroy the factor before it has time to stop the bleeding. Developing an inhibitor is one of the most serious and costly complications of hemophilia. Learn more here.
March 7th fact: Von Willebrand Disease (vWD) is the most common bleeding disorder (1-2% of the world’s population), and affects males and females equally. Many people with vWD are under or misdiagnosed because of mild symptoms. Those with vWD have lower or malfunctioning von Willebrand factor activity, and thus cannot form a proper platelet plug. To be more inclusive, March should be called, “Bleeding Disorders Awareness Month.” Read more here.Posted in Diseases, Events, Featured | Tagged Hemophilia | Leave a comment March 1, 2013
Twin boys Easton and Owen Jouppi were diagnosed with CGD a week before their first birthday. Here, the boys’ parents, Nicole and Mike Jouppi, discuss what it means to care for two children living with this chronic illness.
Their story, in their own words.
We had Owen and Easton on May 21, 2010 and on April 14, 2011 just a month before their first birthday, they were both diagnosed with CGD.
They weren’t meeting milestones that typical infants should meet. They weren’t gaining weight or eating food. There was a very clear failure to thrive.
Owen developed perirectal abscesses, and that’s something that males with CGD will get. Sometimes they will have cysts on their legs and arms, or have reoccurring pneumonia. About a month later, Easton began getting the abscesses too. Owen would lose weight as quickly as he gained it. Our pediatrician referred us to a gastrointestinal doctor who monitored Owen for a couple of months and after trying a few medications, the doctor ordered the CGD test.
They ordered the test on Easton as well because the two are identical, and the thought was if one of them has it, they both might. And they both did.
A few months later, the boys had eye surgery and the gastro doctor ordered an endoscopy and a colonoscopy. After that, we found out they not only had CGD, but chronic colitis as well.
If males get chronic colitis in addition to CGD, they don’t typically get it until later in life. Owen and Easton were 13 months old.
In CGD, the white blood cells don’t work properly. A white blood cell encases an infection and breaks it down, their white blood cells encase the infection, but do nothing with it. So infections get bigger and bigger. Basically, their bodies can’t fight off bacteria or fungal infections, so they can’t be in sandy environments, dirty areas, things like that. They don’t have to live in a bubble, but they need to be very careful.
Males have an XY chromosome and females have an XX chromosome. Females don’t get CGD often because they can cancel out the bad X, but because males have the XY chromosome, they are more at risk. After the boys were diagnosed, we learned that Nicole had been the carrier of the CGD, and she had gotten it from her mother. CGD is typically inherited through the mother, so it made sense.
The way we understand it, if a female has CGD, then her mom and dad both were carriers of it, but for males, only the mother has to be a carrier.
One of the things is that if you and I get sick, we show it on the outside. But if they’re sick, they look healthy as can be. Completely normal on the outside, but very sick internally.
Because the boys aren’t old enough to fully understand the disease, they have to be monitored constantly, which can make day care and play dates difficult. If a two and a half year old sees a kid playing in the sand, then they want to go play in the sand with them. Owen and Easton can’t do that.
Nicole actually ended up quitting her job so she could stay home with the boys full time. We realized it was going to be too difficult to put them in day care. There are the many safety precautions, but also several steps for the medication as well. It’s a very strict regimen.
We still hold out hope that they will be cured, but the only cure is a bone marrow transplant or stem cell, which is not highly recommended unless you become seriously ill. But we remain hopeful for the future.
But after all of this – the medications and safety concerns and so on – Owen and Easton are just two boys. Two boys who like to chase each other around, play with toy cars. They love going to the playground, but just have to be a little more careful than some of the other kids. It’s great to finally see them healthy and just acting like little boys. For such a long time it was such an uphill battle and struggle for them. And although we’re still learning about what they can and can’t do, it’s nice to see boys being boys.Diseases, Featured, How We Help | Tagged CGD, Chronic Granulomatous Disease | 2 Comments ← Previous post Next post →