Then the floodgates opened February 26, 2020. Our world changed forever when our daughter Hailey was born. Hailey was diagnosed with Jordan’s Syndrome, a rare mutation on the gene PPP2R5D. Hailey is one of 220 people worldwide who have been diagnosed with it, though experts say approximately 200,000 people are undiagnosed or underdiagnosed. Doctors didn’t discover her mutation in utero, through genetic testing or imaging while I was pregnant. After her birth, my husband and I began a journey of advocating to get a diagnosis.
So, what is it like for a parent who has a child with a rare disease?
At just fifteen months, Hailey is averaging 8 different therapy sessions a week and counting. Therapies take up large chunks of your time, but also a lot of space in your brain. I spend a lot of time thinking about therapy and I have such high hopes that one day, therapy will no longer be necessary. I envision a day when her schedule will be filled with “typical activities-” sports, dance, etc.
And then there are the unexpected curveballs life throws your way. When Hailey was about a year old, she began dealing with “Atonic Seizures.” Recently, during one of her physical therapy sessions, it also appeared that she was possibly experiencing something called “Petit Mal” seizures, meaning sudden lapses in consciousness. This brought on a whole slew of doctor appointments, medical testing, and phone calls to different hospitals and doctors. MORE ADVOCATING.
None of this is easy, but it’s necessary. We are confronting a rare disease together and advocating for our beautiful children. Alone we are rare, together we are strong.
Finding a balance
The best piece of advice I think I’ve heard along this journey is from a friend. She said, there are some people who have neurotypical children and you feel a little sad that you don’t. There are so many questions for their future…for ANYONE’S future…but the one thing you can rest assured is that your child will grow up knowing that they have to work hard to get things. Your child will understand empathy and compassion. Your child will be a better and stronger person for it. And that…that piece of sound information turns it all around for me.
You find out that this club is exclusive, but also inclusive. Here, you will grow, advocate, learn about acceptance, but most importantly, you will thrive.
A community we are grateful to have. None of this is easy, but it’s necessary. We are confronting a rare disease together and advocating for our beautiful children. Alone we are rare, together we are strong.
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Rare Revolution Editor