Wednesday, January 8, 2014

Revisiting a geneticist, Helpful Facebook groups

I belong to several Facebook groups, and some Yahoo email subscription groups. They are groups created by parents of children with special needs. You do not have to be "friends" with people in the group. You just have to request to join the group and wait to be added. They are very helpful, especially when parents have questions about behaviors their children are exhibiting.

Upon reading some comments from parents about their children and Microcephaly, I came across a girl with a genetic mutation that sounds like what Andy has. It is called a FOXG1 mutation. The syndrome is similar to Rett's syndrome, but is unique and has become it's own syndrome. The children who have this syndrome have never had a period of normal development. Symptoms that Andy exhibits are:

Microcephaly
Agenesis of Corpus Callosum, or Hypoplastic/thin CC
Inconsolable crying
Severe developmental delays
Hand washing motions
Vision impairment
Facial abnormalities-according to doctors
Non verbal
Non walking until between age 8 and 9

I have contacted his geneticist, which he hasn't seen for two years. I've been told it is good to keep a once a year relationship with geneticists, in case any new testing comes about. Andy has had several genetic tests in the past, but none have totally seemed to fit him. He was tested for:

Angelman's syndrome
Factor X
Prader-Willi
CGH micro array to test for duplications and multiplications of genes

If I can convince the genetic counselor, Andy will get tested for mutations in the FOXq region, which would include any of the FOX syndromes. The FOXG1 syndrome causes a truncation of a gene that makes important proteins for the brain. When the brain is deprived of these essential proteins, severe delays in cognitive and physical development occur.

The blog that lead me to this syndrome can be found here: http://meredithannelewis.blogspot.com

3 comments:

  1. My son has been diagnosed with this condition. And I have wondered if your son also had FOXG1 syndrome. I just never bothered to look back through your posts to see if he had any genetic testing done. I can't really put my finger on it, but from the various pictures I have seen of FOXG1 kids, they seem to have a certain "look" about them that stands out. Maybe it is a flatter than usual nose bridge between the eyes. Or maybe the shape of the head due to the microcephaly.

    I have always been hesitant about joining any ACC or FOXG1 groups. Not sure why. Do you feel like they have helped you? Thanks...

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    1. It is helpful when people ask about medications, or share what they feel certain side effects of medications are. Or people with young infants come on and ask what to expect, and don't know what to do next. I am hoping they will do the test for him, and if not, I'll have to find someone who will.

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  2. My son's neurologist provided us with a testing kit from a company called combimatrix. Even if your insurance doesn't cover the test, you can expect to pay no more than several hundred dollars. The hospital we got his blood drawn at mistakenly billed the insurance for the test. Apparently the cost would have been over 20k if the hospital lab had performed the test.

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