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First ever Chediak-Higashi Syndrome family conference only a few weeks away!

Regular readers might remember a while back when I blogged about my hope that we would be able to host the first-ever CHS Family Conference in conjunction with this year's HPS conference.

Well, it's a go! We have three families attending. That doesn't sound like much, but when you consider how rare CHS is, it's actually a pretty big deal.

When the HPS Network started, there were only 25 known cases outside of Puerto Rico. Now look at us! I don't know if it's in the cards for the CHS group to ever grow that big. I am excited about watching the affected families begin to organize. I'm excited because it offers them hope. Also, because the protien trafficking issues are similar to HPS, it's possible that a discovery for CHS might benefit HPS, or vice versa.

Below is an article about one of the families attending the CHS part of the conference.

Here's their story:

Langley family seeks medical help in US



Four-year-old boy is the only patient in Canada suffering from a disease called Chediak-Higashi Syndrome


Lara Fominoff Mar 02, 2011 06:50:32 AM


0 LANGLEY (NEWS1130) - Selena Tenhoeve and her family are going to New York in a couple of weeks so she can educate doctors here, on how to treat her four-year-old son. Riley is the only person in Canada suffering from Chediak-Higashi Syndrome.






She says Riley always has a smile on his face, even after going through chemotherapy, bone marrow transplants, and lung surgery. "The stuff he's been through, I'm sure as an adult, I would have been laying on the bed, just never wanting to get up."






Tenhoeve says they need more information about his disease, so they're going to the first ever Chediak-Higashi conference in New York. The doctors they've seen here seem baffled.






Only six other children in North America suffer from the same condition.






Most children who suffer from the disease only survive about 10 years or so. Tenhoeve is hoping Riley can beat the odds.






Comments

Anonymous said…
My daughter Cassie was diagnosed with Chediak-Higashi when she was 2yrs old. She had a bone marrow transplant in 1993. After struggling through many obstacles she is now turning 21 in august.
We would love to connect with you! We have an online group of families with CHS. I hope you find this! Please get in touch!

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