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I am the Momma of 8 children. Seven here on earth and 1 precious little Angel in Heaven. My children range in age from 2 months to 25 years. My 6 year old was born with a laundry list of complex medical conditions. He has Trisomy 21 (Down Syndrome), a rare brain malformation, which resulted from a mutation of the PAX-6 gene, bilateral anophthalmia, which means that he was born without any eyes, so he is totally blind. At the age of 2 1/2 months old he had to have a tracheostomy to help aid in his breathing. He is hearing impaired, with normal hearing in his left ear and has profound deafness in his right. At 3 1/2 years he had surgery to have a Mic-Key button placed in his stomach (feeding Tube), which is mainly used to give him his medications. He also has insulin dependant diabetes and wears an insulin pump, which gives him a continuous dose of insulin. Even with his many dis"abilities," including being globally developmentally delayed, he has accomplished more than anyone would have ever believed that he could. Join us in our journey living with a Dis"Abled" child....

Friday, September 24, 2010

2 - Month Check - Up


Muffin had his 2-month old check-up with his Pediatrician this morning. He weighs 11lbs. 11oz and is 22.5in. tall. He is in the 50th precentile for weight and height.

We discussed the use of Vitamin D suppliments, being that Muffin is strictly breastfed and breast milk lacks in the daily amount of Vitamin D. We also discussed the findings of Aniridia and the possibility of Nate having inherited a mutated copy of the PAX-6 gene. The Pedi is going to refer him to see Dr. Muge Calikoglu, a geneticist at UNC. And is going to work along with her to schedule Nate an MRI and ABR (Audiotory Brainstem Response) hearing test, just to rule out any possible problems.

The Pedi feels that Nate is right on target with his development. So at this time there is no concerns. How well Nate can see is still up in the air. It will probably be months before we have an actual idea. But we do know that he can see, at least light. When someone turns on or off the light in the room in which Nate is, he will startle. And he reaches for toys on the toybar on his bouncy seat and likes to stare at his mobile, which has sound as well as lights.

Nate had his 1st set of immunizations. Holding him and seeing him cry out in pain, hurt me just as much, if not more, than the needle sticks hurt him. We enjoyed some nice cuddle time afterwards and all was forgiven. But why is it that Moms are always chosen to do the dirty task of holding down the baby/child when they get their immunizations?

1 comment:

ANewKindOfPerfect said...

What a cute new babe! :) I am glad to see the updates on him and read about your eyesight improving! That is fabulous. I am sorry to hear that there are some concerns about the new baby but glad that they are being figured out early on.

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