7 minute read
ONE TOUGH MOTHER
DON’T STOP FIGHTING
I am thrilled to introduce my son Jonathan to the Rochester Woman Online community this month. My past columns have provided a mother’s perspective on having a son diagnosed with Duchenne Muscular Dystrophy. Jonathan is 28 years old and will soon turn 29 in October. As his mom, at times, I was paralyzed with worry and troubled wonder about how his life would turn out and if his prognosis at diagnosis would be his actual reality. I’m happy to say that it was not. Jonathan graduated from Nazareth College with a Bachelor of Science in Biology, a minor in Chemistry, and a Minor in Toxicology.
When Jonathan was 25, he was selected as a consumer reviewer for the Department of Defense Duchenne Muscular Dystrophy Research Program (DMDRP). The DMDRP is part of the Congressionally Directed Medical Research Programs (CDMRP). The CDMRP strives to transform healthcare for Service Members and the American public through innovative and impactful research. The CDMRP fills research gaps by funding highimpact, high risk and high-gain projects that other agencies may not venture to fund. While individual programs are unique in their focus, all of the programs managed by the CDMRP share the common goal of advancing paradigm-shifting research.
BY CHRISTINE PIACENTINO
These solutions will lead to cures or improvements in patient care or breakthrough technologies and resources for clinical benefit.
Below is Jonathan’s consumer story:
I was diagnosed with Duchenne’s muscular dystrophy, or DMD, when I was 4, and since then, I have grown to appreciate the efforts of those who seek to treat this debilitating disease.
To put it into perspective, DMD is a genetically inherited regressive neurological syndrome - meaning from the moment of birth. The body’s muscle tissues begin degenerating from a lack of the muscle regenerative protein, dystrophin, which prevents degradation during stress and allows the muscle to build strength. Because of this, when trauma or rigorous activity damages the muscle tissue, instead of being repaired, the tissue is replaced by fibrotic scar tissue— tissue that cannot function. As such, patients eventually lose the ability to walk, require mechanical breathing assistance, and have difficulty swallowing and reduced cardiac function. Ultimately, either cardiac or pulmonary failure sets in, taking the patient’s life.
This disease is deadly because of its terrible prognosis and its identity as a rare disease, affecting 1 in 3,500 male births. As a result, few doctors are prepared to oversee these patients, and treatment options are not readily available or known. However, organizations such as non-profits and government-directed programs allow various companies and other institutions to examine possible avenues for developing new treatment options and more efficient means of diagnosis.
I am lucky that my life hitherto was filled with opportunities I readily took advantage of to overcome the prognosis. That meant a vigorous assault on what made the disease so deadly, muscle deterioration, which equated to taking medications that dampened strain on the heart by regulating blood pressure and flow or, in the case of general skeletal muscle tissue, a corticosteroid to
reduce stress. Lifestyle changes were also needed in the form of physical therapy multiple times a week, going to the pool over the weekends, and generally attempting to remain active because muscle deteriorates as you get older; with this diagnosis, inactivity of your body will progress faster.
My mother was involved with the non-profit organization Parent Project Muscular Dystrophy (PPMD for short); after 12 years, I joined her. On this front, one might say, we tackle the sociopolitical aspect of DMD. On the other side of the coin, once I was aware of the course the disease would inevitably take me through, I had to speak up for myself for my care. Such as advocating on the Hill for allocating money for research efforts in novel drugs for treatment and working with doctors across the country to produce a standard of care that for decades didn’t exist. Part of this effort was also to provide information for parents and patients that they can use to improve their health and their children’s health. My fight with DMD will continue, but I won’t be alone due to programs like the DMDRP. Other members and I will be able to gain ground in treating this horrible disease. That is why I am grateful to be a part of the DMDRP as a consumer reviewer and for the nomination by Pat Furlong and Annie Kennedy to allow me to do it.
To join Jonathan’s fight, please donate to: https://donate.parentprojectmd. org/give/369549/#!/donation/checkout
COACH TO CURE MD
BY CHRISTINE PIACENTINO
One of Jon’s favorite things to do to raise awareness for Duchenne Muscular Dystrophy is to participate in Coach to Cure MD. Coach To Cure MD is a partnership between the American Football Coaches Association (AFCA), a professional organization for over 10,000 college and high school football coaches and staff, and Parent Project Muscular Dystrophy (PPMD), the largest national charity devoted exclusively to Duchenne muscular dystrophy (Duchenne). You may have seen the Coach to Cure MD patches during the televised football games on September 24, 2022.
In 2008 the AFCA adopted PPMD’s Coach To Cure MD program as one of their charity efforts. The goals of this program are simple. One reason the AFCA was drawn to Coach To Cure MD was the unique parallels between Duchenne. This disorder robs young men of precious muscle strength and college football, a game where young men are at the peak of their muscle strength.
1. Raise national awareness of the disorder
2. Raise money to fund research for a cure
The Approach to these goals is simple. AFCA coaches nationwide agree to promote Coach To Cure MD on one football Saturday of each season. By wearing armbands, mentioning Coach To Cure MD during on and off-field interviews, and in some instances doing even more extensive media relations around Game Day. Coaches roll up their sleeves and proudly get involved.
We thoroughly appreciate and value
the relationship we have built with this program over the years. One of the Universities that has continually supported this program is Utica University. The head Coach Blaise Faggiano loves Jon to come to campus on the eve of their Homecoming game on October 1, 2022. Jon loves to attend the practice the evening before the game. His mission is to educate the entire coaching staff and team on Duchenne Muscular Dystrophy, what it does to his body, and how it personally affects him. The team is enthralled and gives him their undivided attention. Standing with the aid of his wheelchair, Jon tells these accomplished muscular athletes what it is like to be trapped in a body that doesn’t work the same way theirs does. They have truly accepted him as their honorary team captain for the day.
This year’s Coach to Cure MD game was made even more special. We were joined by Jessica Fabus Cheng, Mrs. New York International 2023. She, of course of stunning and beautiful in her sash and crown. It was sunny on game day, so as Jessica flipped the coin to begin the game, her beautiful crown glittered in the sun’s rays. It’s truly a sight to behold! The game coin was unique as well! It was the 50-year commemorative coin from the Federal Bureau of Investigation.
It was inspiring to be standing on the sidelines and see the Coach to Cure MD text image flash on the scoreboard and hear Jonathan’s and Jessica’s names announced as the honorary team captains and help raise awareness for Duchenne MD. The Coach to Cure MD game at Utica University ended on another high note. Utica University clenched a colossal win, thus making the team’s
season so far at 5 victories and no defeats. This game scored 57 -Utica University and 7 – Hartwick College. college coaches across the country and Utica University’s head coach to #TackleDuchenne. You can join our fight by making a donation in Jon’s honor on our Utica University Coach to Cure MD fundraising page: https://donate.parentprojectmd.org/ CoachtoCureMDUtica
