Two Children with Rare Diseases with Rachel Poysky
Rachel Poysky shares her Belly story of raising two children with rare diseases.
Her greatest fears about the health of her son, Joel, were affirmed when she pulled into the driveway and her husband was waiting for her with news. Her husband, Dr. James Poysky, delivered the grave news that their son did in fact have Duchenne Muscular Dystrophy (DMD).
DMD is the most common fatal genetic disorder of childhood and it likely meant that their son wouldn’t live past high school. Rachel tells us about that day -- how they went from being a "normal family" to being a "special needs family."
A few years later, just as the family was regaining a sense of normalcy, their daughter was diagnosed with an even rarer disease, Kawasaki Disease.
Rachel and her husband felt a calling with DMD, their family was uniquely positioned to make an impact, but Kawasaki Disease progressed rapidly and if it had not been diagnosed and treated, could have ended the life of their daughter within 24 hours. This was rock bottom.
What I found particularly insightful about this story was Rachel and James’ commitment to remaining aligned and supportive to one another as husband and wife. They gave each other space to grieve separately, but they were always together. Their relationship feels extraordinary to me.
The Poysky family certainly answered the call. Dr. Poysky has been instrumental in a medical leadership role serving on national boards and authoring papers. And with Rachel’s brother Brad Todd, they created the non-profit Coach To Cure MD, 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, the largest national charity devoted exclusively to Duchenne muscular dystrophy.
The story starts with Rachel first learning from her husband, Dr. James Poysky, that her son had been diagnosed with Duchenne Muscular Dystrophy (DMD)
At the time, her husband had been a neurosphychologist and suspected that it could be DMD because he had seen it in children before
DMD is the most common fatal genetic disorder of childhood, but it’s still a rare disease since it affects less than 200,000 people
Duchenne primarily affects boys but women can be carriers; and it can be spontaneous (genetic mutation) as was the case with Rachel’s family
Rachel shares the “language of Duchenne” which is this entirely new vocabulary that comes with the territory of rare diseases
It also means talking to your children about the disease so they have the “tools and knowledge to function”
A week after the diagnosis, Rachel and her husband aligned on their purpose, that they were meant to join the Duchenne fight
Two weeks after the diagnosis they aligned on the priorities that still guide their family to this day
Rachel’s daughter Hallie was diagnosed with an even rarer disease, Kawasaki Disease
A special needs family starts out in “survival mode” but Rachel consciously made the decision to live life with her family
Rachel is an expert in grieving and discusses the idea that people don’t grieve and can’t be expected to grieve in the same way
Rachel discusses the origins of CoachtoCureMD.org, the charity they created to help raise funds and awareness for DMD
“And it's almost that moment when I pulled into the driveway, I didn't even have to ask the question why he was there at 3:00 in the afternoon. And I walked up to the door and he met me at the door. And I just said, "Is it that?" And he said "Yes." And I said, "The really bad kind?" And he said, "Yes." And that was a moment when we went from being a normal family to a special needs family, just all of a sudden.”
“They're missing dystrophin which, this is simplistic, and a doctor would probably be horrified that I explained it this way, but basically dystrophin is the glue that hold your muscles together. And when you exercise, you tear your muscles and the dystrophin helps repair them. They don't have any dystrophin so their muscles can't repair, so scar tissue develops. And think about all the muscles in your body. Your tongue is a muscle. They lose strength in their tongue, the muscles around their lungs, around their heart, and eventually, you know, because their heart is a muscle that they die of cardiac failure.”
“And we always say, "The kids know something's going on. They may not have the language for what's happening, but you've got to give them the tools and the knowledge to function. And it's not your disease. It's their disease." So they need information for their disease.”
“And so that first week was terrible. But the week after, we looked at each other and I said, "I think we're supposed to be in this, I think we have purpose to fight this disease." And my husband agreed. You know, we sat down probably two weeks after Joel was diagnosed. We went out to dinner and we said, "What are our new priorities? What do we want to do?" And so we made just a list of, these were our priorities for our family, and it's priorities that actually guide our family even to this day.”
“And she was having these very strange symptoms, just high fever, throwing up. Her lymph nodes were so enlarged, you couldn't even see her neck. She... wherever she had a scratch, it had like blown up, just swelled. Just a little tiny scratch, had like blown up. And so we got to the hospital and spent a long time there. And they did a lot of tests. And it was really weird.”
“And something in that moment helped me just gain a newfound strength, and a feeling that I can fight for my children, I can fight for other children, and I can be this advocate for them. And that was so empowering for me, to realize, you know, I think we all need to get to that place where we can be empowered to be the strength for the people that we love.”
“And that is true for a special needs family. Your fight-or-flight is always up. And I don't know, we've just tried to not let that dictate our entire lives, to try to stop and have fun, and, you know, have humor about the situation.”
“I think it's just permission-giving for each person, and for your special needs child that's grieving. You know, they're grieving losses along with you.”
“So I'm just trying to find where I'm being offered grace and hope and unexpected things that for me are miracles.”