Undiagnosed Day banner with girl on ride

“Does she have autism?” Oh, if I had a dollar for every time I’ve been asked that question. 

My daughter is six years old and developmentally delayed.

She is completely nonverbal.  She walks with an awkward gait, makes repetitive hand movements, and has absolutely zero sense of personal space when it comes to strangers. “She doesn’t talk, but she loves people,” our standard explanation we always tell the unsuspecting strangers being affectionately approached.

On paper, my daughter meets a lot of the criteria for a diagnosis of Autism Spectrum Disorder. But her doctors keep saying, “yes but…that’s not it.”

In many ways, it would be simpler to just say, “yes.” I don’t really want or need to give her entire medical history to the woman at the UPS store. 

After all, the real answer is, ‘she has a brain malformation, but also a rare genetic variation (ARF1, in case Google sends you this way,) that at this point isn’t considered a mutation until it’s certain to be the cause of her delays. But one researcher thinks it may be. We are hoping that with time, more people with the same genetic variation will be identified and then one day we will have a name for what she has.’

Until then, she is considered Undiagnosed. She has a Syndrome Without A Name (SWAN.)

I like to say she is a magical unicorn. But she is not the only one.

little girl smiling
We have a lot of shirts that celebrate uniqueness.

Through various Facebook groups for parents of children with special needs, I have made a lot of virtual friends whose children are also undiagnosed. There are actually entire groups dedicated to those without a name for their condition.

And in many cases, a name won’t really change anything.

We are very fortunate that Tricare is happy to provide her with an outstanding number of physical, occupational, and speech therapy appointments despite being Undiagnosed. We are authorized to see all of the specialists we need, all under the general diagnosis of “Global Developmental Delay,” which is really more of a symptom than a diagnosis. Her school is providing her with an appropriate learning setting, and her IEP allows for plenty of one-on-one instruction as well as time being integrated with her typical peers.

I don’t need a name to get her what she needs. However, I would love a name to educate people about the magic that is my child. Maybe even to run a 5K to support further research into it.

I started a Facebook group in 2016 in hopes of other families searching and stumbling upon the group. As of now, my husband and I are the only members – and that’s because you need at least two people to maintain a group! I have hopes that one day more families will find us. I perform sporadic Google searches and have alerts set up when something related to ARF1 pops up on the Internet.

It would be incredible to be able to find other families whose children are “just like” my little unicorn.

 

Actually, I have thought at times that I have found others similar to her through Facebook support groups, only to find out they have identified a different genetic diagnosis that rules out the possibility of them having the same thing. It’s always a little bit of a letdown, to be honest.

And for many others, a name truly does matter. Their children are medically fragile, perhaps with heart conditions or immunodeficiencies. They don’t always know what to expect or the best way to proceed in terms of treatment. Their insurance companies won’t cover therapies for a child with an undiagnosed condition. Having a name, an expected plan of action and warnings to look out for would be beneficial for families like these. 

Undiagnosed Day April 29
Credit: RareUndiagnosed.org

For those of us in this small community, we have today.

April 29 is Undiagnosed Day. I wanted to take this opportunity to bring attention to those who are seeking a diagnosis. To those mothers, fathers, and caregivers who are tirelessly providing care for their rare little ones and seeking answers that may never come. To the one with troubling medical conditions and no answer. You are not alone. Here’s to hoping we all find names, answers, care, support, and the community we so desperately need.

Until then, Unicorns Unite.

 

 

For additional resources, try one of these: 

Undiagnosed Disease Network

Rare and Undiagnosed Network

My Gene 2 

Rare Genomes Project

Syndromes Without A Name (SWAN)