October 10, 2016
1 in 1,000,000. We say this to make someone feel special, unique, irreplaceable. Now it just feels like…oh crap, that means no one knows anything about this.
Last week we got a phone call on Wednesday morning from Children’s Hospital to see if we could come in that afternoon to meet with a special geneticist that is retiring in 2 months. He was an Ocular Geneticist!! Never knew there was such a thing, but some time opened in his schedule and we rushed to Aurora to meet him. I pulled Rylan and our carpool buddy out of school early and rushed to drop her off with a friend. I loaded Tegan in the car and grabbed Jodi and we were off. I was excited to see what he would teach us, explain to us, provide resources to us, start some genetics tests, really anything. But all I felt was super disappointed. I learned nothing, got nothing, and walked out feeling like we were a checkmark off of someone else’s bucket list item.
The geneticist seemed like a really nice guy, but he starts by telling us he has been a geneticist for 40 years and he has never seen someone with Hermansky-Pudlak Syndrome. Rare… yes we know. Then he continues by telling us we are already seeing early signs of Crohn’s disease! At this point my heart jumps into my throat and tears start to form in my eyes, and panic starts to set in and I ask, “What!? How do we know?”
Now the genetic counselor steps in and says, “Oh no doctor that is a different patient.” Blood pressure comes back down.
Doctor: “Sorry about that, this is what happens with age. So we have run the genetics test I see.”
Me: “We did!? From what? I thought we still need to take a blood draw for that?”
Genetic counselor: “That too is a different patient.”
I guess we did just rush down here, but you have got to be kidding me!! Now I was losing any faith in this appointment bringing me any answers. And so it went, no information that was new, no new resources, no blood draw for a genetic test, no nothing. The genetic counselor and geneticist actually spent the morning Googling and researching what HPS was.
Then I realized that he was 1 in 1,000,000 and if I couldn’t expect a geneticist that specializes in ocular genetics of 40 years to have ever had a patient with HPS, than Jodi and I would have to become the experts. We were going to have to hunt for the resources, read the literature, find the specialists, and seek out the answers. So little is known and that thought scares me the most. How can we prepare if we aren’t completely sure what the outcome will be? From my research alone it appears nothing really is off the table: platelet storage pool deficiency, pulmonary fibrosis, colitis, kidney failure, immunodeficiency, neutropenia, and oh yeah a new type has been discovered that includes neurological issues as well. I have read and re-read journal articles which have caused me to literally have to Google every other word. The demonstration of a yellow, auto-fluorescent, amorphous lipid protein complex (called ceriod lipofuscin) in urinary sediment and parenchymal cells… What? Can you please repeat that? Hold on, let me Google here.
This is not going to be easy.
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