I have VERY exciting news to share!! I found out today from our geneticist that a research organization in Canada believes they have found the gene that causes CCMS!!!! Isn't that amazing?! I can hardly believe it.
Abby is joining the study as a way for the team to confirm their findings. She's a "checker," of sorts. Because there are so few people with CCMS, they need as many people as possible to join the study. It can be done by a blood test or saliva sample (cheek swab), but we are doing the cheek swab for Abby. As I have said many times before, I'm not sticking her with anymore needles that I have to!
In addition, our geneticist is interested in gathering patient information for a case study. Her main focus will be on sharing FAIR information about CCMS. As you know if you've been following me for a while, the limited research out there is all very grim. CCMS is NOT the death sentence "they" say it is, so our geneticist wants to give physicians more realistic information so that they can in turn help the parents to make educated decisions. This could be HUGE in helping physicians to understand the need for providing aggressive treatment for newborns.
Please join me in praying for confirmation of the correct gene. This is a HUGE finding that no news station will pick up because it's so rare, but it matters to me...and about 10 others. :)