Tag Archives: Rare Disease Day

Life With A Rare Disease For 7-Year-Old Paul Mustol

At 6 years old, Paul Mustol was diagnosed with Duchenne Muscular Dystrophy (DMD). Paul’s family began fundraising with HelpHOPELive in October 2015. Here is a look at life with DMD as told by Paul’s mother, Anna.

Anna and Paul Mustol HelpHOPELive

Paul with his mother, Anna

Describe a day in Paul’s life.

The morning begins with Paul calling to us to remove his nightly leg splints. We carry him downstairs. He takes two medications and several vitamin supplements with his breakfast. He needs assistance getting dressed. A special needs school bus arrives and Paul is loaded on the bus using a lift to avoid straining his legs.

Once he gets to school, he needs to rest before he does his work with the other students in his class. He needs extra help staying focused and understanding assignments. On a weekly basis, he receives therapy from a physical therapist, occupational therapist and speech therapist.

At dinner, he takes a few more vitamins. We practice deep breathing to keep his breathing muscles strong. We stretch and massage his muscles to reduce muscle contractures. We put the splints back on his legs to stretch them during the night.

Mustol family HelpHOPELive

“We…just try to enjoy each day,” says mom, Anna

What’s the most difficult part of the day?

The most challenging part of each day is at the end of the day when Paul is tired and weak. Instead of running around or riding a bike outside with friends, he is exhausted. It is a reminder of what he will face in the future.

We try not to focus on all the difficulties to come, but instead just try to enjoy each day. We want to appreciate the time we have together. It is uplifting to see how Paul has persevered with a smile on his face through the tumult of the last five months since the diagnosis. We feel blessed by the support and love coming from our family, friends and church community. From the minute we shared his diagnosis, people have offered help and have clearly shown us that we are not alone.

What does hope mean to you?

Hope cannot be taken away by a disease. A disease may shorten a life or make it more challenging, but it does not take away the value of that life. We have hopes for him and for his life. We hope that he can see his life as an opportunity to make a positive impact on those around him. We hope that through his disease, he can teach others about perseverance and overcoming obstacles. Of course, we always hope for a cure for DMD.

Paul Mustol HelpHOPELive Duchenne muscular dystrophy

“Hope cannot be taken away by a disease.”

What do you fundraise for?

The average annual cost per person living with DMD is over $50,000. When we first received our son’s diagnosis, we had no idea of the cost involved. Even though it is a genetic disorder, no one in my family had ever received the diagnosis before; it can occur as the result of a spontaneous mutation. Health insurance covers some of the cost, but many expenses are only covered after we meet a high deductible.

We will always need to cover the cost of daily medications, weekly therapy sessions and doctor appointments. He needs tests like echocardiograms or pulmonary functioning tests from time to time as DMD weakens his heart and breathing muscles. Every six months, we travel to the certified DMD care clinic, which is out of our home state.

How will Paul’s needs change in the future?

Because DMD is a degenerative disease, my son’s needs will increase dramatically with time. He will need a power wheelchair full time and an accessible van and home if he loses function in his arms, hands or legs. He may also face surgeries for bone fractures and scoliosis. Eventually, he will need machines to help with breathing and palliative care. The average life expectancy for people living with DMD is around 25 years, but the type of medical care one receives can make a big difference. Today there are more and more cases of people living with DMD living into their early 30s thanks to medical advancements.

How can we recognize Rare Disease Day in honor of Paul?

Think of someone you know in your community that has a disability or is sick. Find a way to show him or her kindness, whether through an act of service or just through a conversation. See the individual as valuable and important; don’t just see his or her disease. If the person wants to share his or her experience with the disease, listen and educate yourself. Ask how he or she is doing, and listen for more than just a standard quick response. If you are able, share your contact information and indicate that you are available to help if the need arises.

Paul Mustol HelpHOPELive muscular dystrophy

Celebrate Rare Disease Day in honor of Paul

The more attention rare diseases get, the more likely it is that researchers and pharmaceutical companies will investigate ways of treating these diseases. Awareness and knowledge also allows for earlier detection and diagnosis.

Follow Paul’s journey with DMD or donate in his honor on his HelpHOPELive Campaign Page. If you or someone you love is living with a rare disease or other catastrophic illness, start a fundraising campaign with our nonprofit to help offset medical and related expenses.

It’s International Rare Disease Day

Today is the eighth annual International Rare Disease Day. According to RareDiseaseDay.org, the goal of Rare Disease Day is to raise awareness regarding rare diseases, rare disease research, and the circumstances that rare disease patients face on a daily basis.

In order to show you exactly how rare diseases can impact patients and their families, we’d like to share the story of one special little girl: Alma Claussen.

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Alma Kaleolani Claussen was born with biliary atresia.

Alma Kaleolani Claussen is the daughter of Amy and Jereme Claussen. Alma was born on Tuesday, June 10 with biliary atresia, a life-threatening rare disease.

Biliary atresia impairs a patient’s bile ducts so that bile remains trapped in circulation, slowly poisoning the liver until the organ fails entirely. According to the U.S. Department of Health and Human Services, biliary atresia only affects one out of every 18,000 infants.

Alma, Alma Claussen, Alma Kaleolani Claussen, HelpHOPELive, HelpHOPELive fund, rare disease, rare diseases, Rare Disease Day, Rare Disease Day 2015, biliary atresia

Biliary atresia damages the bile ducts.

Alma experienced her first major surgery for bile duct repair at just two months old. The surgery was insufficient, and doctors informed Amy and Jereme that their infant daughter would need a liver transplant to save her life. Alma was multi-listed to increase her changes of receiving a liver transplant quickly enough to stabilize her system.

Amy and Jereme felt that the walls were crumbling around them. They did the best they could to make day-to-day life feel ordinary to Alma’s three-year-old big brother, Arthur, but Alma’s deteriorating health took a toll on their family. Amy and Jereme fought to find hope in the face of immense fear and uncertainty.

Alma, Alma Claussen, Alma Kaleolani Claussen, HelpHOPELive, HelpHOPELive fund, rare disease, rare diseases, Rare Disease Day, Rare Disease Day 2015, biliary atresia

Alma’s disease deeply affected her family.

On February 23, Alma’s parents reported that their young daughter had secured and received a lifesaving liver transplant. As her color slowly began to fade from jaundiced yellow to rosy pink, Amy was finally able to hold her recovering daughter in her arms.

Alma’s journey highlights some of the most life-altering aspects of a rare disease diagnosis, including the need for urgent treatment and the emotional turmoil that families and friends face as they grapple with a disease that they (and even their medical providers) may not fully understand.

As RareDiseaseDay.org notes, there are over 6,000 identified rare diseases that disrupt the lives of hundreds of millions of sufferers across the globe.Most of these illnesses are difficult or impossible to cure. This Rare Disease Day, we celebrate the resolve displayed by families who are coping with a rare disease diagnosis and are facing the challenge “day-by-day, hand-in-hand.”

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Walk hand-in-hand with rare disease patients and their families.

Medical costs add another layer of difficulty to the lives of rare disease patients and their caretakers. The expenses associated with a liver transplant alone can top $577,000, including pre-transplant care, post-transplant hospital stays, and a lifelong course of immunosuppressants.

You can walk hand-in-hand with these families by learning more about rare diseases and sharing your support on social media. We can work together to show these patients and their families that they are not facing their diagnoses alone.

Show your support now on Facebook or on Twitter. Tag your posts #RareDiseaseDay2015.

HelpHOPELive is supporting Alma and her family as they fundraise for uninsured medical expenses, including recovery care, travel, food, and relocation costs. You can follow Alma’s recovery on her HelpHOPELive campaign page.