Still, I have a dream too. It’s really a modest dream. It isn’t about world peace or race relations – not that I don’t dream of those things as well.
I have a dream that families affected by Chediak-Higashi Syndrome will be able to come together to meet, just like those of us with Hermansky-Pudlak Syndrome. I have a dream that they can spend time with one another in the flesh, that they can meet and spend quality time with medical experts on the syndrome, and that they can go away from the experience feeling a little less lonely and a little more empowered.
One of my duties at the HPS Network is to serve as a kind of coordinator for families affected by CHS. CHS is kind of a cousin disorder to HPS. It involves albinism and a bleeding disorder, but also immune deficiency and neurological problems that tend to appear in the young adult years.
The future for kids with CHS used to be pretty bleak. They often passed away before finishing elementary school. Now, however, if kids can get diagnosed before the disease gets too far, they can get bone marrow transplants to repair their body’s immune system. This isn’t an easy road by any means (you have to find a good match), but once over the hump, these kids are growing up. We’ve also found that some people present with an “atypical” form of CHS. Their immune system isn’t as severely affected so they tend to get diagnosed later, even in adulthood.
As these kids do better, there are more of them. There are more families out there living with this syndrome. And with this is coming more research to help find better treatments.
Sometimes in life it’s all about the timing.
Right now, I feel like the timing is critical to pull together a CHS conference. It isn’t ideal for the HPS Network. We’ve had a tough financial year and don’t have a lot of funds to help. But, for the science and the community, the timing is now.
Several of the families affected by CHS have been writing letters and doing fundraisers. They’ve been working to try to make this happen. I’ve been applying for grants etc. hoping that we’ll pull this off. By the end of February, we’ll have to make a do or die call – can enough families afford to come?
Above I’ve posted a photo of Samantha (with her mom’s permission). Samantha and her family are one of the families trying to raise money for the trip. Samantha has been through three bone marrow transplant procedures and she’s just about five years old. She’s doing great! How could anyone say no to a precious face like that? We’ve got to pull this together somehow to give Samantha and her CHS peers an even brighter future.
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