ONE TOUGH MOTHER

CHRISTINE PIACENTINO

I have been advocating and fighting to end Duchenne for the past 23 years here in Rochester and in Washington DC. My son Jonathan was diagnosed at the age of 4 with Duchenne. He is now 27. With the current medical treatments, the lifespan of a Duchenne patient has increase to life into their 30’s. Not too long ago the prognosis was loss of life was prior to age 20. Duchenne muscular dystrophy is a genetic disorder characterized by the progressive loss of muscle. It affects many parts of the body, which results in deterioration of the skeletal, cardiac (heart), and pulmonary (lung) muscles. Duchenne affects approximately 1 out of every 5,000 live male births. About 20,000 children are diagnosed with Duchenne globally each year. Currently there is no cure.

I’ve served on the Board of Directors for Parent Project Muscular Dystrophy (PPMD). PPMD certified the University of Rochester a comprehensive Duchenne Care Clinic in February of 2019. This was a huge win for New York State. This is the only comprehensive care clinic in New York that would use and follow the best practices of care outlined by the CDC.

Jessica and I met in during Parent Project Muscular Dystrophy’s annual advocacy conference. She was advocating for her cousin, and I was advocating for my son Jonathan. PPMD’s advocacy conference is the only officially organized gathering on Capitol Hill for the Duchenne community. It grows each year, with more and more attendees meeting their representatives and staffers, giving a face and a voice to PPMD’s advocacy agenda. I started attending in 2001 when the MD-Care-Act was introduced. For the past 20 years

PPMD has convened families for regulatory events, including federal Advisory Committee meetings and summits. These are designed to inform regulators about the Duchenne patient experience. During this time PPMD has driven paradigm-shifting federal legislation and has passed federal bills and Duchenne Specific appropriations language. Both my son and my daughter Kathryn have traveled with me to Washington to advocate for Duchenne. Duchenne Muscular Dystrophy is a cruel disease. When Jonathan was born, I was hopeful for my son’s future. I couldn’t wait until he was independent and could talk and walk. Some mothers are born to nurture babies and toddlers. Not me. I struggled to relate to a crying infant and a toddler who couldn’t fully talk. I just couldn’t figure what my children were trying to tell me. The crying felt incessant and never ending. When both Kathryn and Jonathan could talk, feed and dress themselves, I was delighted. But Duchenne had other plans for my son. It slowly robbed my son’s independence, now at 27 he relies on me or an aide for his all his basic needs. Luckily, he can still feed himself.

It was a blow to receive the diagnosis of Duchenne Muscular Dystrophy, in 1997 there were no standards of care. I really wanted to just curl up in a ball and not deal with the world. It took me a few months of research to understand that I had to figure out the best approach to my son’s care on my own. That’s when I found Parent Project Muscular Dystrophy. I started attending PPMD’s annual care conference. This conference is the largest, most comprehensive, annual international conference focused entirely on Duchenne. Today it gathers nearly 500 families each year to learn the latest progress and approach to care in the fight to end Duchenne.

“Duchenne muscular dystrophy is a genetic disorder characterized by the progressive loss of muscle. It affects many parts of the body, which results in deterioration of the skeletal, cardiac (heart), and pulmonary (lung) muscles.”

Today it gathers nearly 500 families each year to learn the latest progress and approach to care in the fight to end Duchenne. They also gather for support, strength, and camaraderie, and to hear from families on similar journeys. Based on the information I received there I was able to come back to Rochester and build Jonathan’s care team. I don’t have a medical background. Jonathan’s pediatrician told me that I knew more about Duchenne than she did. I was in very unfamiliar territory educating doctor’s and specialists on the care my son should have. I was determined to make the lives of the families dealing with Duchenne a lot less scary and provide hope for the future and provide the best quality of life I could for my son. I did this all while working full time and raising my family. There is still a lot of work to do to extend the prognosis of this disease. There are still far too many Duchenne patients passing away in their teens and early twenties. and his lifespan has been extended by 10 years. As a result, my son has been able to achieve his Eagle Scout rank, a bachelor’s degree in Biology with a minor in Toxicology and Chemistry. He has taken part in Clinical trials for medications that and is currently serving as on the Steering Committee to update the Community Led Guidance for the FDA on Duchenne. My daughter Kathryn is 30 and has grown into a beautiful smart and compassionate woman. She ran the Chicago and New York Marathon’s twice to fundraise and raise awareness for Duchenne, through the Race to End Duchenne.

Hope this provided a little background on me. Please let me know if you have any questions.

change the face of Duchenne. He and I have both presented to the FDA on benefit risk and provided the patient voice on Duchenne Specific Drugs. He has served on a Peer Reviewer for the Department of Defense – Duchenne Muscular Dystrophy Research Programs (DMDRP)