Tuesday, March 29, 2011

A Diagnosis...

We have a diagnosis for Jesse.

Thanatophoric Dysplasia Type I...Thanatophoric Dwarfism...
---a rare (1/50,000) lethal dwarfism that is caused because of a rare "autosomal dominant mutation in the fibroblast growth factor receptor 3 (FGFR3) gene"...TD1 is due to "de novo" mutations". In other words Jesse's condition is totally random and could happen to anyone.

Thanatophoric Dysplasia (TD) is characterized by short limbs, large head, short neck, short and small fingers, bowed extremities., short ribs to name just a few.
Here is a link for more information: Genetics Home Reference

How does it feel to have a diagnosis? Mixed.
1/50,000 (maybe more!) The question of why us-WHY Jesse? So, in that regard - Angry!
De Nova: not inherited-relieved, but again then WHY!!?!?!?!!

There is still no answer WHY? But when I stop and pause I know why. Because Jesse was suppose to have TD1 . He was suppose to change the world by his absence, not his presence. Is this easy to swallow-NO! But Dan and I are trying to adapt, trying to find the new norm, trying to pick up the pieces and move forward. Some days are good. Some days are not. And no day is the same. It seems like Dan and I have been re-wired. We are no longer the same to people that we were 9 weeks ago. We are changed. Now we are trying to figure out what it all means.


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