On December 18th we visited the genetics doctor. We have recently received the dictation from that visit. It is about 4 pages long, so I will just sum up some of the main things. The genetics doctor had listed some of Kai's medical problems;
1.Cutis laxa
2.Feeding intolerance, failure to thrive
3.Status post G-tube placement
4.Multiple joint dislocations including elbow and both hips
5.Cryptorchidism
6.Hearing loss
7.Concern regarding disproportion
8.Concern regarding pain
We did visit the pain team when we were there last (I can't remember if I had written that in a a previous post). Kai is taking tylenol right now for his pain. In the rest of the genetics doctor's dictation, she wrote that she is "concerned that Kai may have a disorder that is not compatible with typical lifespans. " She thinks that Kai is a tenuous baby and we are encouraged to avoid any exposures to illnesses for Kai. She continues to believe that Kai may have some form of cutis laxa or a connective tissue disorder. They are doing a fibrillin 4 and 5 testing on Kai. Other diagnostics that they are considering would be a progeria type syndrome.
It is so hard to figure this out. Whatever Kai has, it is very rare! We aren't looking for a name, but we want to know what Kai's future holds and how long of a lifespan may he have. We should be meeting up with the genetics doctor again some time in March-ish.
1 comment:
Kai, you are so beautiful! It is very obvious from the pictures and blogs that you and the rest of the family are truly blessed!
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