When I think of my daughters 18 year diagnostic odyssey and the well-known saying that is shared in the rare disease community about what physicians are taught; “When you hear hoof beats, think horses, not zebras” thinking horses or zebras didn’t work for us when we heard hoof beats. The rare disease community needs physician to be aware of zebras when they hear hoof beats but what about unicorns they make hoof beat sounds too. Have you ever seen a unicorn? Maybe in a drawing, a movie or even in our imaginations.
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 or rather what was behind the signs and symptoms. They questioned whether the sound was really hoof beats or was it wings flapping in the wind like a swan. As 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 what it was. 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 after an 18 years of uncertainty 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 details. As we fill in the details we may start to see a zebra and maybe far into the future we will see a horse.
While we waited 18 years for answers to arise it was helpful to seek support around others who were experiencing the challenges of not being able to see what was causing the hoof beats. After all; there are many things that can cause a hoof beat sound, a pegasus, a giraffe, a donkey, and much more. Sometimes the hoof beats sounds can’t be heard by some. So a community had to be created for all the unknown images needing an outline to fill in. Our community was/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 small community of only 25, it has made a large impact in such a short time. Though we are at the very beginning we are working on filling in the outline for those with an altered DYRK1A gene, www.dyrk1a.org.