skylar update 9/28/04

Skylar is working on her 2nd rare genetic metabolic diease. It is called Carbohydrate Deficient GlyoProtien Syndrome (CDGS). Her test just came back and are normal, but the lab said sometimes for babies it wil come back normal at first. She will be tested again in 6-10 weeks. The test are done at the Mayo Clinic in Rochester, MN. The symtoms are:
failure to thrive (she has gained 8oz. in the last 3 months. She is at 12lbs. 8oz. now, elevated liver enzymes, inverted nipples, eye problems (remember her cateract), long fingers and toes, reflux issues. She is behind in motor skills because she is lacking muscle tone. With this disease, the protien has a difficult time going into her cells. That is why she is not building muscle Her intellect is very good, but when she is put on her tummy, she justs goes back and forth on her chest. She does not rest on her arms like she should. This is again, a very rare disease. I have heard different reports, some say less than 100 in world. others say only 20 in world., 6 in US. There are different types with this one also. Type 1a is worst, retardation, can never walk etc. She looks like she has type 1b which is a lot milder. Her mental capabilities are good. Type 1b is treated with a sugar called mannose and probably physical therapy. After all this, hopefully her motor skill will just be behind and she will catch up with some muscle. She will have to start going to the gym with her father (just kidding).
Friday, October 1 at 10:15 am she will have a liver biospy. they will put her under and she will have to stay in the hospital for 24 hours. Hopefully, that will tell us something. I don't think it will tell us if she has CDGS. She will still have to be tested again for that, but the GI/Neuroligist will have several metobolic tests with the biopsy. We will have results in about a week after that. Then the DRS. will be in contact with the Drs. from Stanford and decide on the next step. She is also set up for a swallow test just to make sure that is ok. Oh, i forgot to tell you she had an upper GI a few weeks ago and everything looks like her insides are intact. Her Bili is still way down. (.03) so the genetics seems to feel she has the Crager-Najjir (CNS), and she has a new mutation is unidentifiable, so hopefully, Skylar has a new mutation that she has or will outgrow or it is very, very mild.
Again, when you look at this baby, she looks very healthy (just very petite), and extremely happy. I have said this before, but I have never seen such a good baby. She is always smiling and hardly ever cries.

Well, that is the update a little Skylar. I can't believe she is 6 months old. It certainly has been interesting. Just keep her in her prayers along with her mother and father. I just know God has something very special in mind for her. She has a very special purpose for going thru all of this. I just wish you all could see her. I am sure this will all be OK.
My camera is broken so I haven't taken any pictures in a while.

Just ignore some of the spellings. I need to learn all these medical terms.
I will keep you posted.