What if You’re Not Even a Zebra? Syndrome With No Name Plagues Girl on Diagnostic Journey

When I think of my daughter’s 18 year diagnostic odyssey and the well-known saying in the rare disease community comes to mind.

People say, “When you hear hoof beats, think horses, not zebras.”

Turns out, not all of us are lucky enough to be the horse.

Now here’s where it gets intense: What if you’re not even a zebra? What if you’re, like, a unicorn?

For 18 years Lorna’s doctors could hear the hoof beats presented by her multiple signs and symptoms but they couldn’t see what was creating the sound.  We tried to draw a picture in the dark of what her syndrome was, from the collection of signs and symptoms, we could only imagine. Just as artists have created images of unicorns from stories they have heard we had to create an image of her condition to share with all the people helping us through the undiagnosed journey.

Just recently, we have a glimpse of what has been making these hoof beat sounds. In her DNA she has a mistake, a letter G was copied one too many times. That letter G was in an important part of her DNA in a gene called DYRK1A which plays an important role in the brain. Adding this extra G changes the code so the gene doesn’t do it’s job and causes; microcephaly, intellectual disability, speech impairment, etc. Now that we have found the genetic component of her condition, that is not represented by any name yet, we can see the outline of the unicorn we just need to fill in all the all those stripes.

While we waited so long for answers to arise it was helpful to seek and support others who were experiencing similar frustrations. So a community had to be created for all the unknown images needing an outline to fill in. Our community is Syndromes Without A Name USA, www.swanusa.org.

Being in a community full of all different imagined images for 18 years, I was able to have a greater appreciation for connecting with others who have the same outline to fill in. Even though it is a very small community, it has made a large impact in such a short time. Though we are at the very beginning we are all working together to fill in the outline for those with an altered DYRK1A gene one color at a time, www.dyrk1a.org.