Why We Feel Fortunate to Be a 'Rare Family'


My son’s diagnosis of CDKL5 disorder has opened my eyes, mind, and heart to the complex world of rare disease. Before c-d-k-l-5 came into my vocabulary, I was embarrassingly unaware. I thought “genetic” meant “hereditary” (science isn’t my strong suit). I thought doctors had answers. I thought medicine would work. I thought developmental delay simply meant “behind,” not “unable.”

The truth is, unless you have a child who doesn’t grow by the milestones in the book, you really wouldn’t know. You wouldn’t know that a 4-week old baby could have seizures. You wouldn’t know that someone’s eyes could be perfectly fine, but still couldn’t see. You wouldn’t know that lifting his head during tummy time would be a skill we’d still work on at 21 months old.

When my son was first diagnosed, I would never have imagined that I’d feel in any way fortunate about his condition — yet I do. I have learned a lot about rare diseases since CDKL5 disorder has made me aware. I’ve learned that only about half of the 7,000 kinds of rare diseases out there have a foundation to support them. I feel fortunate to be a part of the half that does.

Because The International Foundation for CDKL5 Research is well-organized, I have been able to connect with other families of children with this condition. Around the world, research is alive and helping us understand more about the CDKL5 gene, all because of the hard work, intelligence, and dedication of other parents before me. Hopefully, researchers and parents will work together to find treatments and a cure.

a green starfish-shaped logo representing CDKL5

As I’ve educated myself in all things rare, I’ve been lucky enough to meet other rare disease moms who have become friends. Our children’s skills and abilities are different. Their challenges are different too. I know which conditions are being researched and which are not.

All things considered — we are fortunate.

Even though right now, my son’s condition means he most likely won’t be able to walk, talk, or care for himself, I have hope. Fortunately, we are part of a larger organization researching and working together, so maybe one day, he will.

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Getty Images photo via llhedgehogll


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