This Thursday and Friday Haleigh will be returning to the NIH for more testing. She will be sedated on Friday as they perform an Electroretinography test.
We were also informed that the first round of chromosome sequencing came back and she has a marker on a chromosome related to Peripheral Neuropathy. (Peripheral nerves carry information to and from the brain. They also carry signals to and from the spinal cord to the rest of the body. Peripheral neuropathy means these nerves don't work properly). To test for this they will do an EMG and Nerve Conduction test. (An electromyogram (EMG) measures the electrical activity of muscles at rest and during contraction. Nerve conduction studies measure how well and how fast the nerves can send electrical signals). Josh and I will also get this test done since it is a Dominant gene.
No diagnosis yet but things are starting to come back so its a start. The nurse said the lab will now start the next level of breakdown with the DNA. Fingers crossed.
Haleigh's Journey
Monday, January 28, 2013
Thursday, January 10, 2013
New News!
A lot has been going on in the last few months. Haleigh is doing wonderful. So far (knock on wood) she has made it without getting sick. Not even a cold!!!
On the 28th of December she had her ear tubes replaced and her adenoids removed. This should also help her stay infection free. I think last year she picked up most of the childhood viruses so she should be good this year.
She saw the endocrinologist yesterday. She is 19.1lbs and 32 inches. Still growing on her curve but she is making great progress.
We still have not heard anything from the testing at NIH. We go back at the end of this month to stay for a few more days. She will be getting an eye test done. They had some concerns with the color of her retina when she was there in June and the test requires her to be sedated. (again)
Not many new developments in PT. She is still taking a lot of independant steps but she is not steady enough to walk full time. We really are hoping it will happen so that she can run around this summer. We have noticed she has developed "clonus" (Clonus (from the Greek for "violent, confused motion") is a series of involuntary, rhythmic, muscular contractions and relaxations. Clonus is a sign of certain neurological conditions, particularly associated with upper motor neuron lesions involving descending motor pathways, and in many cases is, accompanied by spasticity (another form of hyperexcitability).[1] Unlike small, spontaneous twitches known as fasciculations (usually caused by lower motor neuron pathology), clonus causes large motions that are usually initiated by a reflex. ) in both of her ankles. The doctor is going to monitor it. Right now they are not concerned with it being brain related. I think they are unsure if it is developing or if she always had it and they just didn't notice.
My computer will not let me upload a picture today but most of you are on my facebook so i am sure you see alot! =o)
On the 28th of December she had her ear tubes replaced and her adenoids removed. This should also help her stay infection free. I think last year she picked up most of the childhood viruses so she should be good this year.
She saw the endocrinologist yesterday. She is 19.1lbs and 32 inches. Still growing on her curve but she is making great progress.
We still have not heard anything from the testing at NIH. We go back at the end of this month to stay for a few more days. She will be getting an eye test done. They had some concerns with the color of her retina when she was there in June and the test requires her to be sedated. (again)
Not many new developments in PT. She is still taking a lot of independant steps but she is not steady enough to walk full time. We really are hoping it will happen so that she can run around this summer. We have noticed she has developed "clonus" (Clonus (from the Greek for "violent, confused motion") is a series of involuntary, rhythmic, muscular contractions and relaxations. Clonus is a sign of certain neurological conditions, particularly associated with upper motor neuron lesions involving descending motor pathways, and in many cases is, accompanied by spasticity (another form of hyperexcitability).[1] Unlike small, spontaneous twitches known as fasciculations (usually caused by lower motor neuron pathology), clonus causes large motions that are usually initiated by a reflex. ) in both of her ankles. The doctor is going to monitor it. Right now they are not concerned with it being brain related. I think they are unsure if it is developing or if she always had it and they just didn't notice.
My computer will not let me upload a picture today but most of you are on my facebook so i am sure you see alot! =o)
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