Tag Archives: rare disease

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.

HelpHOPELive Clients In The News October 2015

October brought us falling leaves, pumpkin spice indulgence and autumn fundraising milestones! Here are three compelling client stories featured in the news this month.


Matt Collura: Annual 5K Provides Financial And Emotional Benefits

Matt Collura 5K Run/Walk

In March of 2011, the Collura family, of Monroe Township, N.J. was rocked by a shocking accident: a snowboarding injury left then-28-year-old Matt Collura reliant on a wheelchair for mobility as he coped with a life-threatening traumatic brain injury. From acquiring specialized accessibility equipment that would keep him safe in his home to pursuing intensive rehabilitative therapy, Matt was facing a long emotionally and financially draining road to recovery. His friends and family members turned to HelpHOPELive for support. With Matt’s passion for athletics and running, a friend suggested planning a 5K fundraiser in his honor to rally community members to help cover the uninsured expenses as a result of injury.

Matt Collura 5K Run/Walk 2015

The Matt Collura 5K Run/Walk celebrated its 5th anniversary on October 11, 2015. The event draws hundreds of supporters who enjoy the opportunity to give back to their friend and neighbor as he continues to pursue recovery with dedication. For Matt and his family, the event is far more than an opportunity to offset vital medical expenses; the run provides a powerful dose of emotional support that keeps him striving forward. “This is a chance for [us] to participate in a day that Matt refers to as the best day of the year,” his supporters wrote on his HelpHOPELive Campaign Page. Since the accident, funds raised from the Matt Collura 5K Run/Walk have helped Matt to pursue the rehabilitation he needs to speak, walk with minimal assistance and pursue a greater degree of independence by moving out of his parent’s house and into a group home. (5K supports Monroe man’s recovery from accident)


Patrice Penny-Henderson: ‘Angel’ Aids Music Teacher With Rare Disease

Patrice Penny-Henderson Elkhart kidney transplant

A rare blood cell disease severely reduced Patrice Penny-Henderson’s kidney function, forcing the elementary school music teacher to receive dialysis three times each week to stay healthy. Despite Medicare coverage, out-of-pocket costs of $20,000 or more made a kidney transplant seem out-of-reach for Patrice. That is, until a chance encounter blossomed into an unexpected lifeline.

In 2015, seven years after she was diagnosed with end-stage renal failure, Patrice reconnected with a former co-worker, Susan Law, who was stunned to hear about her medical ailments. Susan sprang into action, connecting Patrice with HelpHOPELive and helping her to plan community fundraisers to cover her medical bills. Susan and Patrice “chose HelpHOPELive over other popular sites like GoFundMe” in order to secure a tax-exempt donation option for her contributors and expert insights from a HelpHOPELive Fundraising Coordinator. Patrice calls Susan “an angel” for stepping in to support her efforts to secure a lifesaving transplant. (Longtime Elkhart music teacher…needs kidney transplant due to rare disease)


Michael Carns: Military Vet Puts Difficulties On Display To Fundraise For MS

Michael Carns veteran MS multiple sclerosis Marine National Guard

After dedicating himself to years of service in the U.S. Marine Corps and National Guard, Michael Carns was attacked by an enemy of a different kind: multiple sclerosis (MS). The 46-year-old father of three began to rapidly losing his independence and his mobility, struggling to provide for his three children as daily tasks like cooking and using the bathroom became formidable obstacles.

That’s when Michael learned about a treatment trial in Chicago that offered hope for potentially halting the progression of his MS in its tracks. He would need to raise $150,000 to be eligible for the potentially life-changing course of treatment. Michael knew he had to do something to show his community why he needed their emotional and financial support. He reached out to a local news station and offered them a chance to film the impact of MS on his daily life.

In a video interview, Michael shows viewers what life with MS really looks and feels like, from painstakingly transporting himself to his son’s football games to coping with fears that he will not be there to walk his daughter down the aisle on her wedding day. For Michael and his children, fundraising with HelpHOPELive has come to represent a second chance – an opportunity for Michael to pursue advanced treatment that could give him back his independence. “Believe that there is hope, still, because there always will be,” affirmed his son Mikey. (Military veteran hoping for treatment to fight MS)


Get your campaign in the news! If you need help with press releases and media outreach, contact your HelpHOPELive Fundraising Coordinator today.

 

HelpHOPELive Clients In The News September 2015

Our clients work hard to engage their communities in fundraising, and the media is taking notice! Here are three standout stories.


Wade Smith: 8-Year-Old Needs Transplant

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Wade Smith is an 8-year-old boy in Belington, West Virginia who has experienced more medical emergencies than most of us will ever face. Diagnosed with Williams Syndrome, a genetic condition that causes cardiovascular issues and developmental delays, Wade was born without a right hand. He underwent open heart surgery at 3 months old and was diagnosed with FSGS at age 4. Today he receives daily peritoneal dialysis treatments while he awaits a kidney transplant.

Wade’s story has moved local families and businesses, including the McDonald’s in Philippi, which has agreed to donate 50 cents from every small fry order to HelpHOPELive in Wayne’s honor every Sunday throughout October. (Philippi McDonald’s helping boy with medical expenses)


Sarah Carr: Selfless Mom Seeks Accessible Van

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Carol Amore of Beverly, Massachusetts has been the primary caregiver for her daughter, Sarah Carr, for 33 years. Sarah is unable to walk or talk and has been enduring debilitating seizures since she was 5 months old. Now 60, Carol is fundraising for a wheelchair-accessible van that would ease the burden of transporting Sarah to her daily activities and specialty medical appointments.

Carol credits Sarah’s life with teaching her about patience, strength and unyielding compassion. (Beverly family seeks help acquiring handicap van)


August Murphy: 5K Run for Lungs Honors CF Fighter

August Murphy, 5k Run for Lungs, 5k, run, running, marathon, training, marathon training, coach, marathon coach, fitness, health, gym, workout, health, HelpHOPELive, CF, cystic fibrosis

August Murphy will run her first nonstop mile on September 13 at the 5K Run for Lungs event in Portland, Maine. Diagnosed with the genetic disease cystic fibrosis at 4 months, August is fundraising with HelpHOPELive for the double lung transplant she’ll one day need. August’s trainer, Brian Ligotti, plans to run alongside her every step of the way, ready to provide oxygen from a tank if August needs it to finish the race.

August and her medical team hope that fundraising now will limit the amount of additional stress placed on August as she grows stronger in preparation for a transplant. (Maine woman will run for a new set of lungs)


Want your HelpHOPELive Campaign to make headlines? Reach out to your Fundraising Coordinator for assistance with press releases and outreach.

Nick’s Fight Against Aplastic Anemia

Nick Karavite was diagnosed with a rare blood disease called aplastic anemia at age 13. His bone marrow stopped producing enough vital blood cell varieties which caused his immune system to attack itself. Nick’s treatment included extended hospital stays and testing, chemotherapy and, finally, a bone marrow transplant from his 6-year-old sister, Mandy, exactly one year ago today. We spoke to Nick and his mother, Pam, about his transplant journey.

Mandy Karavite chemotherapy Nick Karavite aplastic anemia

Nick encourages everyone to sign up as a bone marrow donor.


Walk us through the first few days.


Pam: To be honest, everything happened so fast that none of us had much time to process it. One day Nick was pitching a no-hitter, and the next day he had red spots all over him, a fever and exhaustion. I took him to the pediatrician and they did blood work and immediately sent us to the hospital. We were met by an entourage of doctors and nurses and escorted right to another room – no E.R., no waiting room. By the next morning, a bone marrow biopsy was performed and he was diagnosed with aplastic anemia.

We went from a routine visit to the pediatrician on Monday to hearing that our son could die on Wednesday. There just wasn’t any time to think, just react.


How much did you know about aplastic anemia when you were first diagnosed?


Nick: I didn’t know anything about aplastic anemia, and I had never heard of the disease before. In fact, nobody in my family had any experience with the disease. Even though I knew nothing at the beginning, I could probably tell you everything about the whole process at this point!

HelpHOPELive: Aplastic anemia is a rare disorder that causes an individual’s immune system to attack and destroy the body’s bone marrow. Fewer than 1,000 cases are diagnosed annually in the U.S. It is uncertain what causes aplastic anemia to occur.

hospital Nick Karavite aplastic anemia

Post-diagnosis, Nick spent extensive amounts of time in the hospital.


Was your family worried about you?


Nick: Yes, my family members were very worried. My mom would think about it every single night as she watched me sleep – she wanted to change places with me. But they didn’t let that worry get in the way. The same goes for my friends. Instead of overloading me with questions about it, they just cared for me.

Pam: We had our moments (I call them 80/20 days). Nick’s doctor told us that even with his sister, Mandy, as a bone marrow match, his chance of survival was 80%. I had days where I couldn’t shake the 20%. Once, I was packing a bag in Nick’s closet before heading back to the hospital and I had a vision of packing up his closet for good. I fell apart, began sobbing, sniffing his clothes, falling to my knees and begging God to leave my son here. I started calling them ‘closet moments’ – if I ever needed to cry, I would go find a closet so that Nick never knew.

Make A Wish Pamela Karavite Nick Karavite aplastic anemia

One year ago today, Nick gives his mother a Make A Wish medal.


Were you scared?


Nick: I wasn’t too scared, because I honestly didn’t know what was going to happen. I was learning more about the condition and focusing on what needed to happen next. I guess there is mild, moderate and severe aplastic anemia. I had severe aplastic anemia, but my parents never shared that or my survival odds with me until after I made it through.


What helped your family remain positive?


Pam: We were united in our common love for Nick, but I feel we remained positive because of God’s hand in things. I spent a lot of nights watching Nick sleep, wondering why this was happening. I still am not clear as to the “why,” but I am sure that God had a hand in preparing us for this battle for three reasons.

First, five years ago, God blessed us with the surprise of Mandy, who ended up being Nick’s ideal bone marrow match. Second, I had started work on my Masters in Special Education before Nick’s diagnosis, which equipped me perfectly to home school Nick for three quarters of his 8th grade year while he pursued treatment. Third, we moved our children to a different school district prior to his diagnosis, and the support of this new community became a true lifeline for our family when Nick was diagnosed.

hospital bed Nick Karavite aplastic anemia

The Karavite family sought to stay positive
throughout treatment.

The community really rallied to keep us lifted. Local parents put us in touch with HelpHOPELive, helped us cook meals and clean and held fundraisers in Nick’s honor. His peers at school even donated their allowance to his campaign. Teachers went above and beyond for Nick – his basketball coach gave him an honorary spot on the team even though he wouldn’t be able to play. Based on all we were armed with for this fight, it was hard not to remain positive.


Was fundraising an important part of the journey?


Pam: Fundraising was a HUGE part of our journey. The money raised through HelpHOPELive helped with anything insurance didn’t cover; the greatest help was when it allowed us to relocate for Nick’s hospital stay. One of the smartest things we did was to keep our family together: from the very beginning, I knew we needed to be at Nick’s side at the hospital 24/7. I knew we had Nick, the sick boy; Mandy, the donor; and two other boys that could potentially get lost in the shuffle. We agreed that keeping together was the best way to maintain some kind of ‘normal’.

Because of the help we received via donations from family and friends, one of us was able to be at Nick’s side every step of the way, and the other parent could be with our other children to provide them with ‘normal’ family time. Our psychologist has since told us that this one act, keeping our family together, was instrumental in getting us through this journey with the least amount of upheaval. Fundraising made that possible for us.

wheelchair friends family Nick Karavite aplastic anemia

Family and friends provided support and fundraising help.


What was the treatment like?


Nick: I went through a few treatments and then chemotherapy. I didn’t realize how sick it would make me. I got chemo for four days. Every night, all I could think about was being one day closer to going home again.

The bone marrow transplant only took a couple of hours, but I had to stay in the hospital for a month afterwards. A lot of people brought me games and things to do in the hospital to pass the time. I wasn’t able to eat for the first two weeks! The doctors wanted me to fill up on protein, but until I could get there, I had to get liquid nutrients through an IV for every single meal to stay healthy. I have a few scars from the treatment process.


What three words would you use to describe how it feels to go through diagnosis and treatment?


Nick: Scary. Unknowing. Shocked.

Nick Karavite aplastic anemia chemotherapy bone marrow transplant

Nick endured chemotherapy and a bone marrow transplant.


What advice would you give to another family that is facing a battle with aplastic anemia?


Pam: Well, there is always the obvious: stay off the Internet! I didn’t allow myself to look at how awful this disease can be until after I felt good about where Nick was in his treatment. But my central piece of advice is this: accept help. I can be terrible at doing this myself, but the help we received SAVED us. It is a very humbling experience but a very necessary piece to surviving such a trying ordeal. The emotional scars are certainly here to stay for all of us, but I can honestly say they would be far worse had we not accepted the help everyone so willingly offered.


What do you think everyone out there should know about aplastic anemia or becoming a bone marrow donor?


Nick: They should know that the treatment process is a lot harder than it sounds. Even though it’s not cancer, aplastic anemia can be harder to treat than leukemia.

The chances of living with aplastic anemia without a donor are 50%. It goes up to 80% with a donor. Not only that, but the bone marrow donation process is pretty much painless – all they do is put an IV in you and put you to sleep, then take your bone marrow. The donor’s cells replenish themselves in 4 to 6 weeks.

Mandy Karavite bone marrow donor donationNick Karavite aplastic anemia

Nick received bone marrow from his younger sister, Mandy.

My 6-year-old sister was my donor, and her least favorite part was the over-the-counter medicine she took after the procedure – she didn’t like the taste of it! She was able to keep going with her life right after the procedure. She was out swimming the next day!

Everyone should sign up to be a bone marrow donor. All you have to do is sign up, swab your cheeks and that’s it, and you can save a life.


You just graduated from eighth grade. What are you looking forward to in high school?


Nick: I’m excited about starting a few different classes like biology and math. Science and math are my best subjects. I’ll also have about 15 of my friends starting high school with me.

Pamela Karavite Nick Karavite aplastic anemia recovery graduation eighth grade

Nick graduated from eighth grade with his mom by his side.


What do you want to be when you grow up?


Nick: I love baseball and I would definitely like to play baseball professionally, but I know that might be a long shot. After going through this treatment, one of my career goals is to be an anesthesiologist. Whenever I had a surgery or treatment, I would ask about anesthesia and being an anesthesiologist. It’s a really interesting system. It puts you to sleep very fast! That was a memorable experience.


Baseball is one of your favorite pastimes. What is it that you love about the game?


Nick: I like hitting, pitching, fielding, playing on a team, all of it! I’ve been playing baseball since I was four and started off with tee-ball. My favorite professional teams are the Cubs and Tigers. I’ve been to a Tigers game before. My favorite pitcher is David Price, who pitches for the Tigers. He’s a leftie like me, and he’s a good pitcher.

Nick Karavite baseball bat hospital aplastic anemia

Nick loves to play baseball.


What’s your best pitch?


Nick: Every pitch is my best pitch!


Thank you for the great conversation, Nick and Pam. To learn more about Nick or donate to HelpHOPELive in his honor, visit his Campaign Page.

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.

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

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.