Friday, February 28, 2014

Rare Gene Disorder Day

the two CDPX1 boys in my life & my hubby loving them both
A few years ago, February 29th was deemed Rare Gene Awareness day...since it is such a rare day itself. There is no 2/29 this year, so 2/28 is the date.

J is seeming to be a mild case of chondradysplasia punctata type-1, x-linked. But who knows with these things... something might come up in the future, but we hope that doesn't happen, obviously.

He has a mutated x chromosome, that caused his extremely tiny nasal bridge and cute little smooshy nose. He also has some funky spine bones and some speckling on some other bones that you can only see on X-ray film.

His prognosis is great. He just has to be a little extra cautious with his spine, but no surgeries on it are anticipated right now. We will continue to see his spine doctor once a year to verify this. He sees his ENT doctor 1-2 times a year, as his small nose and airway is the biggest concern right now. He's been snotty all winter, and has been breathing fine (praise God)...he's just a major mouth breather anyways. His hearing seems just fine. So, again, we are really lucky.

Unfortunately almost every other kid with CDPX1 is not this simple. I feel for them and their parents... I just don't understand how one mutated gene produces such variety in affectedness. Everyone of them is making the best life for their kid, and I am in awe of how amazing they all are.

So my observation of Rare Gene Day is less about my baby J (thought I totally acknowledge his uniqueness and 'this could all go wrong in an instant'), it's more about his fellow CDPX1 brothers (and 2 sisters that we know of, thought it's even more rare for an affected female to survive!).

I am a carrier, which means I too have a rare gene... but aren't we all unique in some form or fashion ;-)

The observation of this day is more than just fluff.... check out the website here--- http://globalgenes.org/world-rare-disease-day/

ps. I think the most stressful time with J was the last half of his pregnancy and the first 3 months of his life. It was the uncertainty that was the hardest. God has a special plan for him, and I'm so blessed to be entrusted with his care and upbringing.

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