All diseases have their milestones. This November is a big milestone for Chediak-Higashi Syndrome (CHS).
For readers that might not know, CHS is a cousin disorder to HPS. It is another syndrome that involves albinism, although often the albinism is quite mild. Like HPS, people with CHS often have problems with the delta dense bodies on their platelets. CHS and HPS are both problems of protein trafficking. Those with CHS, however, have immune problems from birth on. Usually (though not always) these problems are quite severe and require one, if not several, bone marrow transplants.
Thanks to bone marrow transplants, kids with CHS are living longer more often. Still, in early adulthood they tend to develop progressive neurological complications.
Hermansky-Pudlak Syndrome is a rare disorder, but Chediak-Higashi Syndrome is even more rare.
For many years the HPS Network has served as a defacto home for those with CHS. Sometimes they've been misdiagnosed with HPS first. Because our problems are so similar, we share many of the same researchers. We hope, however, that one day the CHS families will be able to organize and form their own group.
For now, we are celebrating a huge milestone.
The NIH is sponsoring a scientific symposium (Stonehouse) meeting to discuss issues surrounding recommendation of bone marrow transplants, as well as how to advance the research on the neurological issues of CHS. For the first time, 26 researchers from around the world will sit in one room for several days and talk about how to move towards better treatments for CHS.
Now is a critical time. When they finish, we've got to keep the momentum going. They'll need funds raised to act as seed money for early research. They'll want to know that the CHS families are organized and willing to help in any way with their efforts.
The sad fact is there are 7,000 rare diseases out there. Thousands of them would love to have NIH research, let alone an NIH-sponsored scientific meeting.
To my many friends in the CHS world, congrads on your achievement! It'took lots of hard fundraising work and was a labor of love for your kids. Savor the moment, have a glass of wine, and get ready for the next steps!