The Pilot Jumped

Several years ago, while visiting our team of doctors at Children’s Hospital of Philadelphia (a.k.a. CHOP), Christy and I were asked to be part of a commercial. The video featured parents being interviewed about the excellent level of care we had access to at CHOP.

We were to be asked about our journey in getting a diagnosis for Drew’s rare disease.
At that moment it hit me…the perfect analogy!
For your information, I am an analogy guy. They help me make sense of almost anything. There is a problem though; I have the misguided belief that EVERYONE loves my analogies.

Back to my story…I want you to picture Ralphie from the movie Christmas Story, when he turned in his paper asking Santa for a “carbine action, 200 shot, range model air rifle with a compass in the stock and this thing that tells time”.  If you remember the movie, in Ralphie’s mind the class was cheering for him and the teacher was so moved with his literary effort that she could do nothing but give him a A+++.


As for my analogy, in my head all I saw was the interviewer sobbing and the camera guy texting his wife about the life-changing words he just heard as tears roll down his face.

When asked the question during filming, I nailed it.  Their reaction, however, was nothing more than a pleasant head nod. I thought, “Well, I am certain he is being the professional journalist and holding it together.”

Three weeks or so pass and we get a link to the commercial. My time had come to change the world. Only problem…my part was left on the editing room floor. You can see me just sitting there while my wife spoke like an angel. At one point you can see my uncomfortable ass try to figure out where I should put my right arm. say all that to tell you this: I am stubborn and I still think my analogy paints a great picture about families navigating their way to a diagnosis.After a large amount of backstory, who’s ready for the analogy that crashed and burned on the editing room floor?

In my last post, I shared the poem “Welcome to Holland”.  Emily Kingsley paints the picture of families boarding a plane to Italy. We all board planes, it just so happens that some of the planes unexpectedly land in Holland. But sometimes, it feels like the plane has never landed at any airport and the pilot jumps out, leaving families to learn how to fly the plane with no training and no manual, looking for a place to land. This is how I would describe having a child with an undiagnosed rare disease.

I had a saying that I used quite often when we started our journey with Drew:“Somebody else has had this problem…what are they doing?” Drew has been misdiagnosed twice and even had a diagnosis of leukody strophy ruled out, only to be ruled back in. As the years went by, we started thinking maybe nobody else has had this problem. That, I can tell you, is a lonely feeling.


So, where are we now? We are blessed. Thanks to a lot of innovation and science, Drew has had seven genome sequencing panels as well as an exome sequence, and we finally found our needle in the haystack. A variant on his TUBB4a gene.

What does it all mean for us? Well, we really don’t know. There are roughly 200 known cases of TUBB4a variants in the world. It just so happens that Drew’s particular variant is different than all the others.

So we continue to fly. Watching the research that continues to move forward. Praying that one day we will find our answer. I have faith that the day will come when we can finally say (and to quote my favorite movie, Top Gun) “Drew, it’s time to buzz the tower”.