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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, October 24, 2008

Endocrinology visit

Timmy had a visit with Dr. Ali, his Endocrinologist earlier this week. Dr. Ali was very impressed on how well everyone has kept Timmy's blood glucose levels under control. Dr. Ali order a complete electrolyte panel to check Timmy's sodium, calcium, potassium levels. Timmy has been having what we suspect to be leg cramps and his electrolytes being out of balance could cause leg cramps. Or what we are seeing could just be a typical 4 year old's temper tantrum. Better to have blood work done to assess any possible problems, rather than just to chalk what we are seeing up to a tantrum.

Dr. Ali is also screening Timmy for Celiac Disease. Celiac Disease is a disease from what I have read, causes malabsorption of food in the small intestine. And is associated with gluten intolerance. Children with Celiac Disease are typically small for their age. Being that Timmy had some blood glucose issues almost a year and a half ago with Pediasure, Dr. Ali feels that it best to screen for Celiac Disease before we decide on which new more balanced and age approperate formula to try. Timmy doesn't have any of the symptoms associated with Celiac Disease.

We also discussed with Dr. Ali the idea of possibly starting Timmy on growth hormones. Some of the risk associated with starting the growth hormone are, Timmy could develop certain forms of cancer or leukemia. These risk are higher for Timmy being that he has a chrosomal abnormality (Down Syndrome). By giving Timmy the growth hormones it would help Timmy to catch up growth with his peers. Dr. Ali is having Timmy's insulin like growth hormone level checked. This level is what is causing Timmy to be small for his age, compared to the human growth hormone. We will make our decision once we get the results from the blood work.

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