Jean Wittie, directly right of the groom, with members of her family on the Oregon Coast

My husband Frank and I have been married for over 30 years. We have a blended family of seven children, six grand children and five great grandchildren. The two oldest boys are my boys from my first marriage, and they are the ones who have been diagnosed.

Todd is the younger one, he’s 43. He began having some problems – facial twitching and jerking – in 2009. He’d always had problems with his thyroid, and his doctor at the time thought all of Todd’s problems were related to that. The doctor kept raising and raising the medication, until he took Todd completely off it. Nothing worked.

I finally took him to my doctor, who thought he had MS. We went to see a neurologist who ordered an MRI and genetic tests. When the diagnosis came back, it blindsided us. We had no idea that there was anything like this anywhere.

After Todd was diagnosed, his doctor ordered testing for Todd’s older brother, Dale. Dale had some symptoms, but they weren’t very pronounced, so he thought he was home free. But just before Christmas 2010, his diagnosis came back as positive for HD.

So I set out to learn as much as I could about Huntington’s. I found the UC San Diego Autism Center of Excellence and they were so encouraging. They invited Todd and myself to their research symposium, where we met researchers, officials with the Huntington’s Disease Society of America, and families with HD. It was all very encouraging.

As a result of that symposium, we were finally able to get both Todd and Dale on a medication that helped restore their quality of life.

Dale lives in his own home with his adult son, daughter and her family. Dale’s daughter and her family moved back to Oregon to be closer to Dale and help out.

Unfortunately, Dale’s daughter was diagnosed positive in March. Dale’s son, and Todd’s two daughters have not yet been tested. Todd’s two girls live in Alaska and want to be tested but they are working their way through the state’s medical system now. Dale’s son is practicing avoidance behavior – he’ll get to it, but for right now, he does not want to be tested.

My husband Frank has always been supportive of the boys and of me. He’s the one that keeps reminding me to be patient when I need to be.

I still work and I go to school, so Todd is at home alone during the day. I make meals that will be easy for him to eat, he takes care of the yard, feeds the dogs… both my husband and I want Todd to have as normal a life while he still can.

Our extended family is huge, and Todd and Dale have all of the love and support our family can offer. Various family members have attended the conferences, support groups, walks – everyone in the family is there for Todd and Dale.

I truly feel that if I stay positive and persevere, then there will be a cure. We all have to have the courage and the hope to keep going. You have to keep fighting.

So that’s my story.

This article first appeared in the winter edition of Caring Voice Community magazine.

This year CVC ranked #33 out of 50 overall organizations and #18 in the Medium Organization category. The NonProfit Times, who conducted the survey, included an article listing the results of the survey (click here to view the full article).

What is a Power of Attorney?
A Power of Attorney is an agreement between two people: a principal and an agent. The principal, or almost always the patient, grants powers to the agent, or the caregiver, to make certain decisions on the patient’s behalf. These decisions can be based upon a range of issues, but they are typically financial or medical decisions. A POA steps in when the patient is no longer able to make decisions on his or her own behalf, and it allows the caregiver to designate who will make those decisions. Without a POA, a court or state may be able to designate someone to make decisions on the patient’s behalf. The person appointed might not be the person the patient would choose to make his decisions.

As an example, married couple John and Peggy choose to draft durable Powers of Attorney granting one another the authority to make financial and health care decisions on one another’s behalf. John discovers that he is diagnosed with Huntington’s Disease and eventually loses capacity to make decisions on his own. Because of the POA, Peggy can make decisions for John. Without that POA, their home state of Idaho could determine that Peggy is not the best person to make those decisions and instead designate John’s cousin, Nell, to make those decisions.

Do I need a Power of Attorney?
Probably. Most people who own property or have any money will need to make financial decisions, or difficult health care decisions later in life. If this is the case for you, you may want to consider having a POA in place.

The Specifics
When you draft a Power of Attorney, you must have the capacity to do so. Capacity is essentially the ability to make or enter into a legal relationship the same way someone with a sound mind would. Everyone is assumed to have a sound mind and be of normal intelligence. Someone can try to prove that you no longer have capacity. However, to do that, they must have specific and realistic proof.

So, if your illness is expected to progress in a way that may cause you to lose capacity, it is better to draft a POA sooner rather than later. You can speak to an attorney about tactics like videotaping the signing, getting one or many doctors’ statements of your competence, and/or having multiple witnesses at the signing of your POA to further support your capacity.

A POA must be durable to last after a patient loses his capacity. A durable POA will remain intact after the patient is no longer able to enter into legal relationships. A POA will terminate at death, even if it is durable.

The laws that govern Powers of Attorney vary state by state. Many people will need separate POAs for health and financial issues. Consult an attorney in your state to answer any specific questions you have and to draft a POA for you. If this is not financially possible for you, many state Departments of Health have free Medical Powers of Attorney or Health Care Proxies available through their offices. Contact your local Department of Health to request a copy of their form and for any specific instructions to complete.

If your family does draft a Power of Attorney, please send a copy to CVC. We can keep it on file in case the caregiver must sign on behalf of the patient when completing a new Terms and Conditions form or the incredibly important Renewal to receive a grant in
the new year.

The information presented in our website’s “Legal Corner” section is intended to provide information of general interest to the public and should not be relied upon as legal advice or counsel.  This information should not serve as the basis for any legal decision by you.  The information offered is not intended to create an attorney-client relationship, and your visit to our “Legal Corner” shall not be deemed to create such a relationship. Information posted in our “Legal Corner” may not reflect recent legal developments or decisions and therefore website visitors should consult an attorney if you have legal issues requiring attention.

CVC Health Care Attorney Kristin Lough uses her background in finance and the law to help CVC patients. As part of the Appeals and Disability team, Kristin helps assist patients with insurance appeals and with applying for Social Security Disability.

Children may not understand disease names or their associated symptoms, and the word “disease” may make them worry that it is something they can catch.

Try not to go overboard, but address common fears.

Carefully explain that your loved one isn’t acting this way because she doesn’t love the child anymore. It is just that he or she has trouble doing some things now.

Even if your child doesn’t ask, make sure he or she knows that the illness is not contagious.

Emphasize that the disease has nothing to do with germs and cannot be “caught” by being near a loved one.

This information was provided courtesy of Lift Caregiving.

Frequently, people start looking for more information with a search through Google, Bing or Wikipedia. Beyond searching for a diagnosis or information about a specific disease, people also have turned to the Web for support. Niche communities that focus on an array of health issues, such as HealthCentral, Patients Like Me, Inspire or Treatment Diaries, invite individuals to share their personal stories about living with chronic illnesses. For many, social media, especially places like Facebook, have turned into a place for support and comfort. The web offers a virtual support system for many people, battling both common and rare conditions.

Scleroderma is a relatively unknown disease that affects approximately 300,000 Americans. Most general practitioners will never see a patient affected by the disease. The same is true in far too many instances of people living with scleroderma. In my role at the Scleroderma Foundation, I increase connections of people living with the disease and help them better access the essential resources they need so they can be a more involved member of their care team. In two years, our Facebook community has tripled in size to more than 10,750 users – the largest and most active of its kind among similar scleroderma organizations. In addition, many of our 24 chapters and 150 support groups across the country manage their own social networking communities, further engaging the scleroderma community.

I attribute the Scleroderma Foundation’s online successes to several factors. First, patients are becoming more active participants in their treatment plans, and secondly, online tools like Facebook offer an improved access to health information.

“I initially reached out to online resources when I recognized that no one in my world ‘got it,’” said Teri H., a registered nurse from Texas who has lupus and scleroderma. Teri said she joined our social community because, “I have felt I was in desperate situations with these illnesses in the last couple of years and I found great comfort in being able to read others’ posts as well as be able to share on different websites.”

There are many instances where people are unable to attend a support group in their own town. A disease like scleroderma can limit one’s mobility. The psychological effects of the disease also make it hard for some to go out in public. A virtual support group offers a unique opportunity to connect with others in an intimate and personal manner.

“Social media is like a huge support group. You may not have the intimacy of being in a small group but… I have actually become friends with people who have scleroderma and are from other countries,” said Helene G., who runs a scleroderma support group in San Diego and belongs to the Foundation’s Facebook community.

When Lora K. was first diagnosed with scleroderma, she and her husband initially turned to medical professionals for support. She was surprised at what happened.

“To our shock and grave disappointment, we discovered they offered no help,” Lora said. “To our continued amazement, they offered no information. Not even a suggestion as to where we might find information,” she said. “We had no choice but to seek help and information on our own.”

Teri, Helene and Lora’s stories are just the beginning of how some people living with scleroderma – along with their caregivers, friends and family members – have gone online to empower themselves with information.

In May 2009, we began a partnership with Inspire. With their help, our global online discussion board has grown from 2,300 users in 2010, to more than 6,700 users in 2012. Last year, there were 2,877 discussions started with nearly 30,000 replies from discussion board members.

Working closely with our Programs and Services team, we review journal entries and discussion posts. The message board’s posts help us generate content for our publications and our annual patient education conference. It steers us toward what issues people are currently experiencing and ensures that we have a pulse on common concerns.

In the coming years, the trend of people turning to the web for health information will continue to grow. As access to mobile devices becomes easier and less cost-prohibitive, online communities will see membership numbers surge. I predict that more medical professionals will take part in online discussions as their comfort levels and confidence increase, as well. This will help change the dynamic in the benchside setting, causing doctors and patients to be engaged members in one’s care plan.

Christina Relacion is the Communications Manager at the Scleroderma Foundation’s National Office, located in metro Boston. Her primary interests include website production and social media. Her work has been recognized by the Wisconsin Healthcare Public Relations and Marketing Society, the Association of Marketing and Communications Professionals and other professional organizations. Christina has presented across the country on topics including social media, public relations and website management.

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.

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.

To learn more abut Cassidy and her Purple Day campaign, you can visit www.purpleday.org, or find them on Facebook at PURPLE DAY for EPILEPSY.

Here are a handful of quick facts about epilepsy, featured on the organization’s website:

• There are approximately 65 million people around the world living with epilepsy
• Approximately 1 in 26 people will develop epilepsy at some point in their lifetime
• There are more than 300,000 Canadians living with epilepsy
• There are approximately 2.2 million Americans living with epilepsy
• Epilepsy is NOT contagious. Epilepsy is NOT a disease. Epilepsy is NOT a psychological disorder
• There is currently no “cure” for epilepsy. However, for 10-15 percent of people with epilepsy, the surgical removal of the seizure focus – the part of brain where the person’s seizures start – can eliminate all seizure activity. For more than half of people with epilepsy, medication will control their seizures. Additionally, some children will outgrow their epilepsy and some adults may have a spontaneous remission
• Not everyone can identify specific events or circumstances that affect seizures, but some are able to recognize definite seizure triggers. Some common triggers include:

–Forgetting to take prescribed seizure medication
–Lack of sleep
–Missing meals
–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

To learn more about CVC-supported diseases: Complex Partial Seizures and Infantile Spasms

When I was born, everything was fine.

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.

Symptoms

Soft tissue bruising
Mucosal bleeding
Intracranial bleeding
Newborns may have umbilical cord bleeding

Diagnosis

Diagnosis is made by normal coagulation screening tests and a detailed family history.

 Click here to learn more about Factor XIII.

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.

Easton, left, and Owen Jouppi

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.

Click here to learn more about CGD.