My Daughter Has a Genetic Disorder So Rare, Even Her Doctors Don’t Understand It

My daughter’s issues began before she was even born, and as soon as she came into this world, my motherly instincts told me that something was seriously wrong. The doctors assured me that I was just a nervous first-time mom, and because I so desperately wanted to believe them, I tried to convince myself that was true.

But when she ended up in the intensive care unit at just 4 months old, there was no denying that my fears had been right.

It would take two more years before we found out the truth: She had Ehlers-Danlos Syndrome (EDS); a rare genetic disorder that can cause heart defects, organ rupture, digestive issues, severe joint dislocations, musculoskeletal deterioration, widespread chronic pain, blindness, and even death.

Image Source: Eden Strong

But something still wasn’t right, and when she was 6, I found myself standing in the genetics clinic of a major children’s hospital, with one of the world’s leading EDS specialists.

“Ok … ” I said slowly, trying to absorb the words that the geneticist was telling me, before asking him what it all meant.

“It means, we don’t know,” he said bluntly. “The literature is devoid of any information on this particular genetic presentation in a pediatric setting, and little is known about it in general. She does have Ehlers-Danlos Syndrome (EDS), but this specific type is exceedingly rare. EDS in general is not a well understood disorder, and this type has only vaguely been studied. It’s so rare, that I’d be really interested in doing a familial history on your family and putting together a research paper.”

“But how do I treat it?” I asked the doctor, hugging my daughter a little tighter on my lap.

“There is no treatment,” the doctor said, “We can only attempt to manage the symptoms. The research paper would be an attempt to look at a possible treatment for other patients by learning more about this specific presentation, but with her, I just don’t know.”

At that moment, I felt like my entire world was crashing down.

Image Source: Eden Strong

When my daughter was first born, I had walked out of the maternity ward armed with advice from the doctors and nurses; and yet I still felt scared that I wouldn’t be able to care for her as well as they could. I worried that I might fail her. I worried that I wasn’t cut out for this.

But leaving the genetics clinic that day — with a sick child that no one in the world knew how to treat — well, that was absolutely terrifying.

My plan for parenting had always involved visions of chatting with mom friends about how to tackle potty training and teaching our kids to share. I figured that if my daughter got sick, I’d take her to the doctor and they would make her better. And although parenting was scary, I knew I’d have other people to assist me along the way.

But now I was all alone.

My daughter was sick, and there was no doctor who could make her better.
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My friends couldn’t fathom my situation, and there was no comfort in discussing a struggle that only I was going through. My daughter was sick, and there was no doctor who could make her better.

No one in the world understood what I was going through, because as far as they knew, she might be the only one in the world going through it.

How do you look at your child and admit that you have absolutely no idea how to keep her alive?

I couldn’t do it.

So I didn’t.

If the doctors didn’t know how to treat her, then I would figure it out.

Image Source: Eden Strong

That first year, I spent an immense amount of time on the computer researching everything I could find. I pored over anything that I thought might be even remotely relatable — old research papers describing a condition that sounded like hers, genetic studies of the disorders that lie on the same chromosome as her defective one, and even biographies of doctors around the country who were doing work in any field related to her issues.

I made appointments with every research hospital in the area, and pushed hard to have her moved through waiting lists of specialists that I thought might be able to help her. I didn’t accept “I don’t know how to treat her,” and instead I fought to have her doctors network with each other and try to come up with a plan. I found a pediatrician who was willing to advocate with me, and would consider the ideas that I brought to the table.

No one knew what to do for her, but they weren’t going to figure it out unless they tried; and I was determined to make them try.

Sooner or later we realize that our kids are going to be whoever they are going to be, and our role in their lives is to guide them through it the best we know how.
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My daughter is 8 now, and I have to admit that I still don’t know what I’m doing. But, in a way, I’m learning that this is what parenting is all about. When our kids are born, we have all these ideas of who and what they are going to be, and how everything is going to work. But sooner or later we realize that our kids are going to be whoever they are going to be, and our role in their lives is to guide them through it the best we know how.

I don’t know what the future holds for my daughter’s health, and the truth is, no one else knows either. The only thing I can do is to take it one day at a time, be her biggest advocate, and let her know that I will always fight for her.

You know, what every mother does for their children.

My child may very well be the only one in the world right now who has been diagnosed with this disorder, but I’m learning to be OK with it.

After all, I always knew she was special.

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Article Posted 3 years Ago

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