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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....

Tuesday, October 21, 2008

Genetic Testing

We have been invited to go to NIH (National Institute of Health), in Bethesda, Maryland, for further genetic testing and to participate in their study of children with (HPE) Holoprosencephaly. We are so excited! We are hopeful that our many questions regarding Timmy's condition will soon be answered. This past February, we had an appointment at UNC with the genetist Doc and everyone's blood was collected to be sent to NIH for genetic testing. We are anxiously awaiting those results. We have been in contact with several people of the staff at NIH in regards to the results of the testing. We have been told that niether of us are carriers of any of the known genes related to HPE. They are suppose to go over these results with us at our visit. The date of our visit is scheduled for Monday, December 15th., with us arriving on Saturday, December 13th. As of right now, we will be there at NIH for a week. We have decided to participate in all areas of the screening areas offered. This includes: A visit with a Neurologist, Endocrinologist, A complete physical, An Echocardiogram, An abdominal ultrasound, Photography, Speech and Physical Therapy evaluations and all of us are going to be seen by a genetic ophthalmologist. Being that both Floyd (dad) and I (mom) have vision problems, they are interested in seeing us as well. The genetics team at NIH "thinks" that the possible cause of Timmy's condition may be linked to mom and dad's vision impairment. If this is true, it must only affect boys, because Floyd and I have 3 children together and Emily is very healthy. I also have 4 other children from previous relationships 2 girls and 2 boys, all of these children are healthy. So I'm very interested to find out what the team at NIH findings are. If the Doctors at NIH can not provide us any information as to what may have caused Timmy's condition or the odds of this occurring again. It will definately be a great learning experience for everyone. And a much needed all expense paid vacation for us.

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