Patients & Families

After years of regularly experiencing difficulty going up stairs, Ryan mentioned something to his doctor. His doctor simply checked another box on his blood test request, in addition to the liver enzyme panel which had regularly been tested since he was a kid due to high liver enzyme levels. This additional blood test result showed an elevated CK (Creatine Kinase), which can be an indication of muscle damage. This result kicked off a process of working with a variety of specialists towards a diagnosis. A year and a half later, after eliminating more common muscle diseases, a little luck intervened – a blood sample to test for Limb Girdle Muscular Dystrophy was sent to a medical center with a comprehensive policy of concurrently screening for diseases with symptom overlap, one of which is Pompe disease, a rare genetic disease.

Pompe disease is caused by mutations, also known as variants, in the acid alpha-glucosidase (GAA) gene that lead to a deficiency in a protein (also called GAA) responsible for breaking down a complex sugar (glycogen) in a specific part of the cell known as a lysosome. The accumulation of this glycogen leads to breakdown of muscle in the adjacent cell structure. By using a NGS (next generation sequencing) technique on Ryan’s simple blood sample, the lab was able to identify two such variants which are known in Pompe disease.

Armed with a diagnosis, Ryan started to put more pieces of the puzzle together during a period of reflection. He realized his symptoms actually began at a young age. In old home videos, Ryan saw himself at his kindergarten graduation pushing off his legs with his hands to get up the stairs to the stage, and that he’d get up off of the ice a little more slowly than his teammates during drills at hockey practices. Those abnormal liver enzyme levels doctors had been chasing for 15+ years now had an explanation as well – they are common in Pompe disease and other diseases affecting muscles. Growing up he also regularly received comments on his posture and unique walk. That was Pompe disease the whole time.

Ryan’s lengthy path to diagnosis is common for those with a rare disease. Although he wasn’t diagnosed until he was an adult and despite dealing with symptoms his whole life, Ryan doesn’t regret how his life has unfolded.

“The challenges I’ve faced have shaped me, and I’ve developed values and traits that I’m proud of,” said Ryan. “That’s not to say we shouldn’t do everything possible to push for earlier diagnosis across all rare diseases, because it is critical to do so. I also think there is an understanding among the rare disease community, bonded by the knowledge that we’ve all faced challenges as we march uphill and into a headwind.”

Post-diagnosis, as a “new” Pompe patient, Ryan worked to get up-to-speed and educated on the disease so that he wouldn’t have to be a bystander on the journey. As is the experience with many people living with a rare disease or still searching for diagnosis, the start of this journey was scary with feelings of uncertainty, fear and isolation. Those feelings still exist, but as he learned about the disease and took inspiration from others facing challenges associated with Pompe and other rare diseases, new feelings took over…

“There was an overwhelming interest in the fascinating and wonderful ways that our bodies and genetics work, along with the amazing stories of extraordinary people who have contributed to progress thus far. A sense of excitement that we are on the cusp of really outstanding scientific breakthroughs and the potential that they have,” said Ryan. His goal now is to channel this new energy into positive action, charged with a sense of responsibility to participate and help elevate and empower the role that patients and families play in the rare disease ecosystem.

Part of Ryan’s education has come from actively seeking out a community. He has found this through networking and follow-up at various patient, scientific and advocacy-focused meetings and conferences, including the AMDA (Acid Maltase Deficiency Association), UPF (United Pompe Foundation) and IPA (International Pompe Foundation). Outside of Pompe disease, Ryan has also enjoyed learning and networking through Global Genes and EveryLife Foundation events, among others. Another tool Ryan uses to stay current on industry news and advancements is ClinicalTrials.gov, which lists private and publicly funded clinical studies from around the world and is searchable by disease and country.

With a richer understanding of the rare disease ecosystem, Ryan now realizes the tremendous community that already exists. His goal is to work with that community and empower patients to move from “subjects” to participants, collaborators and partners that help accelerate progress in the understanding and treatment of rare diseases.

“It sounds strange to say, but it’s a really exciting time: We have so many wonderful people (and companies) putting their efforts and talents into helping people with rare diseases.” He continued, “we’re on the cusp of being able to deliver diagnoses and treatments, for the first time, to many of the ten percent of people in the United States that have one of over 7,000 rare diseases. While with others, like Pompe disease, we’re working on second generation treatments that can focus on improvements beyond just survival.”

“I’m passionate about accelerating progress for Pompe and rare disease patients, with an emphasis on participation, community, patient empowerment, education and the accessibility of information,” concluded Ryan.

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Monique Griffin, finding purpose in patient advocacy and education

Monique Griffin always lived an active and busy life, whether it was competing in gymnastics as a child or her demanding career, leading communication efforts for a large hotel and resort brand. This constant, on-the-go lifestyle led Monique to dismiss symptoms of Pompe disease for years as what she thought was normal fatigue.

She initially went to her doctor in her early 20’s after she began waking up with headaches. Together, Monique and her doctor compiled a list and began testing for various possible explanations for her symptoms, including environmental issues such as gas leaks at home and allergies. It was not until a follow up visit to her doctor that he noticed she had to push up on the chair armrest in order to stand up. Additional tests were ordered, and an initial diagnosis of inflammatory myopathy was made.

Monique accepted this diagnosis and her prescribed treatment plan of steroids at face value. She didn’t delve further into other options despite continuing symptoms. Over the next decade her disease progressed to the point that she needed handrail assistance to climb a flight of stairs and watched closed captioned TV as her chronic extreme pain was worsened with sound.

Monique attributed her worsening symptoms to her diagnosis of inflammatory myopathy coupled with a demanding job working 60-100 hours a week. Finally, after a fall at her house resulted in a concussion, she decided to seek additional opinions and potential treatments. After nearly a decade of progressive symptoms, a subsequent genetic test revealed that the diagnosis of inflammatory myopathy was incorrect, and, in fact, Monique’s experience was due to Pompe disease. Because Pompe disease, a lysosomal storage disorder and neuromuscular disease caused by mutations in the acid alpha-glucosidase (GAA) gene, is rare and symptoms are not always obvious, it can often be misdiagnosed.

“Getting diagnosed was a relief, because not knowing what I had was so much scarier,” said Monique, who is now successfully able to manage her disease and is no longer in constant pain. “With a correct diagnosis and treatment plan in place now, it’s a much better life.”

Monique now uses her experience as a lesson and hopeful story for other patients who might be in the same position. She has found that misdiagnoses are common for Pompe disease due to the fact that doctors simply do not know much about the disease and symptoms can mimic more common conditions and may present differently in each patient.

Understanding the disease and being able to help others with this knowledge now drives Monique in her patient advocacy work. She participates in clinical trials and has become an advocate for patients, speaking at meetings with elected officials and traveling around the country to engage medical professionals as well as individuals living with Pompe disease. From her first experience in a clinical trial, to becoming the first patient in the United States to receive a new, commercialized treatment for Pompe disease in 2010, Monique has taken advantage of her experience to help others.

“I share my story to give other patients hope while educating medical professionals to make diagnosis easier for others. It’s given me a sense of purpose,” Monique said. “Doctors need more education on this disease, especially with how it presents in adults. They must routinely offer the one-time genetic test for Pompe disease in order to diagnose in early stages.”

As a fierce patient advocate, Monique encourages patients to be their own champion and manage their own healthcare experience by coming armed to appointments with questions and research and looking into second opinions when necessary.

“There is a lot of help to be had, but you need to know where to look and shouldn’t be afraid to get that second opinion or do your own research,” said Monique. She especially sees the patient online and social media community as a tremendous asset. “For Pompe disease patients who have been diagnosed, they’ve been through it. They’ll understand your questions and concerns because many have been in that same situation.”

Monique continues to stay positive and enjoys the welcoming and supportive community of patients with Pompe disease. “I’m optimistic about the clinical research in Pompe disease underway and planned for the future. It creates hope for the Pompe community that research may advance our understanding of Pompe disease and how to best manage, treat and hopefully one day cure this inherited condition.”

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Curt Krouse has come full circle.

Growing up in Eastern Pennsylvania as a child with severe hemophilia B, Curt was always aware of the support services provided by his local chapter of the National Hemophilia Foundation (NHF). Back then, however, Curt’s primary interaction with the group was helping his mother set up the annual fashion show fundraiser she volunteered to organize.

Curt’s personal routine requires him to infuse once or twice per week, depending on his activity level, wear ankle braces and take other measures to help manage the pain of arthritis. All people with bleeding disorders must be vigilant about their activities, and reconsider those that may put them at risk.

He now knows arguably more about the Eastern Pennsylvania Chapter of the NHF than anyone, having served as executive director since early 2014. The role combines his two decades of experience in sports and events marketing with a personal desire to give back to the hemophilia community.

“I’ve come to embrace that I can help families and children growing up today have a good and successful life, by sharing my own perspective growing up with hemophilia. This position has taught me a lot about the community, and a lot about myself. I feel strongly that this is where I am supposed to be.”

A key priority for Curt since taking on the role is extending that sense of belonging to all people with hemophilia and a related bleeding disorder, von Willebrand disease. The Eastern Pennsylvania chapter supports medical research and provides financial assistance, education, family programming and advocacy at the state and federal level to benefit local patients with hemophilia and von Willebrand disease. Their motto speaks of a community united: 41 counties, one chapter.

As Curt considers the medical setbacks and advances that have shaped the hemophilia community throughout his 49 years, he recognizes that the current moment could be a transformational one. He said that recent developments in gene therapy research have given the community a sense of “guarded excitement” about the potential to reshape the care of people whose lives are now ordered around a pattern of receiving infusions of clotting factor to prevent uncontrollable bleeds.

Becoming an accomplished Impressionist-style painter is not the most obvious choice for someone who is facing a deteriorating eye condition, but that has been Eric Hartman’s calling for the past 15 years.

A business executive turned artist, Eric was living on Cape Cod in the early 2000s when he began to train in the style of Monet and Degas in 19th-century France. He has been at it ever since. Eric’s art has taken him places near and far – from months-long plein-air immersions in the French countryside, to afternoons with his easel in City Park, in his native New Orleans. Even though his sight has continued to diminish, his zeal to experience and capture the landscapes around him has only grown.

“People with conditions like ours talk of trying to build a visual scrapbook, placing our visual memories in our brain,” Eric said. “The more I have done my art, the more visual I have become. My sense of color, of composition, of shadows have fine-tuned my eye.”

While art has given Eric a deeper connection to the world around him, the work that Eric has done through the Choroideremia Research Foundation (CRF) has done the same for thousands of people throughout the world with choroideremia.

CRF emerged in the late 1990s to become a leading provider of patient support services for its almost 600 members in 12 countries. CRF has also become a catalyst for scientific research, investing millions of dollars to support academic researchers focused on the condition.

While the organization’s research agenda is aimed at accelerating potential breakthroughs to preserve or restore sight, it is equally focused on meeting the needs of people living with a condition that can be deeply isolating. Growing up in New Orleans in the 1960s and 70s, Eric, himself, did not meet another person with choroideremia until he was 40 years old, in 1998. When he did, it was an overwhelming experience.

“Suddenly, the struggles I faced on a daily basis were relatable – walking into half-opened doors, losing my place in darkened rooms. I met others who were comrades in arms, and we began learning from each other. It was such a relief that there are people for me to talk with.”

For Phillip Smith, it was just another day in fifth grade outside with his friends, playing one of the many sports he’d grown to love during his childhood: slow-pitch softball. He held up his glove to catch the ball, like he’d done dozens of times before.

But this time, the ball didn’t make its way into Phillip’s gloved hand. Instead, it collided – hard – with his elbow. For most kids his age, this type of playground mishap might have resulted in a trip to the nurse’s office and an ice pack. For Phillip, however, the decision he made that day would have life-long consequences.

Phillip was born in 1960 with severe hemophilia A, a rare bleeding disorder. Growing up in Illinois, his older foster brother, who also had hemophilia, encouraged Phillip to be cautious when playing with his friends. He recalled that “there were a lot of ‘don’ts,’” due to fear of inadvertently causing a bleed that would send him to the emergency room for a blood transfusion, the standard hemophilia treatment at the time for a serious bleed.

He was an adventurous child, however, who enjoyed sports, ranging from basketball, to dodgeball, to baseball. That day when Phillip got hit in the elbow with the softball, he decided not to confide in his foster parents because he was afraid that he would get in trouble. “So, I kept it secret,” said Phillip. “That elbow ended up being a target joint for a couple of decades,” meaning that his elbow became a joint that bled frequently for many years after that incident.

“If I had told my parents, I may not have had to endure such frequent trips to the emergency room and to physical therapy in the years since then,” Phillip said. In retrospect, he knows now that one should “treat as soon as possible” because “the longer you wait, the more damage you’re doing to your joints.”

Phillip suffered additional challenges throughout his youth and young adulthood due to lack of safe treatments for his hemophilia. When he was a teenager, he acquired hepatitis C from a blood transfusion and later, the HIV virus from the plasma products used for hemophilia treatments.

Yet, despite these tribulations, Phillip has retained his uniquely sunny disposition. Hemophilia, and all that’s come with it, has taught him compassion and also to “be more patient and empathetic than I might have normally been.”

He since went on to pursue a career in specialty pharmaceuticals and has maintained his active lifestyle. Phillip is optimistic for what the future holds for people like him with hemophilia. He encourages others who he meets in the hemophilia community to seek out answers to their questions about the disorder, and to stay informed about research and the development of potential new treatments. “Make sure you educate yourself. If you don’t have a science background like I do, talk to your physician,” he said.

Jolene Scicchitano, a sixth-grade math teacher living in rural Pennsylvania, didn’t know she was a carrier for hemophilia A until her first son, Jacob, was born nearly 30 years ago. Her younger sons, Seth and Ben, were later born with hemophilia A as well.

“I had so many questions and so much fear,” Jolene recalled. “My vision was that they’re going to have a very difficult life with a lot of pain.” To compound her fears, Jacob was born at the height of the blood contamination epidemic in the 1980s, and Jolene worried about the safety and purity of the plasma products that were standard-of-care to treat hemophilia at the time.

As a mother of three young sons living with hemophilia, Jolene also became their caregiver. She spent numerous hours over the years administering and tracking their time-consuming and costly treatments. “The most difficult thing was taking care of their bleeding and the damage to their joints. But in addition to all of that, it was the amount of time – filing insurance paperwork, keeping treatment logs and taking care of bills. It was another part-time job,” she said.

Despite the hurdles of ensuring her sons received consistent and adequate treatment over the years, Jolene persevered and insisted that hemophilia would not define her boys’ childhood. Her family’s mantra became: hemophilia is a part of me, but it’s not all of me.

She continued to seek out as much information as she could. She educated herself and read whatever she could find, hoping for better treatments for her boys. Her family also turned to the local hemophilia community to meet others with this inherited disease and gain access to new information and resources. “Living in a rural area, getting to those conferences, we were able to meet other people [living with hemophilia]. The best way to learn about anything is by living through it. I think we have one of the best communities.”

And as Jacob, Seth and Ben grew up, they found daily inspiration from each other. “They’re resilient and perseverant,” Jolene said of her sons. While she worried about the kind of life her boys would lead with a diagnosis of hemophilia A, Jolene now looks to the future with great hope.