I prayed to God to please not let it be Huntington's disease (HD) since that is a genetic disease that runs in my family and there have been rare cases of children having symptoms, especially boys. I had watched HD play out in my own family, and just the thought of watching one of my own children suffer from this awful disease was almost more than I could bear.
When we got home, I took him to the local doctor. After watching him walk, he said that he could kind of' see the wobbliness that I was concerned about, but wasn't sure if it was something to be concerned about. Most importantly, he referred me to an out-of-town pediatrician because he trusted the maternal instincts that I was having. Thank heaven for intuitive doctors.
The new pediatrician started by checking for an inner ear infection, having his eyes checked and he also ruled out the possibility of HD. We then went through a nine month period where Ben continued to display an unsteady gait, and he became a "human pin cushion" as test after test was performed on him in our search to find answers. We kept praying that we would find an answer, but we were very discouraged when the neurologist from the University of Utah was ready to call Ben's condition "unspecified ataxia".
What I believe was an inspirational breakthrough came shortly thereafter, and we were called back for just one more test. It turned out that Ben was suffering from a rare genetic disease called Ataxia Telangectasia, or A-T. As bad of a disease that A-T is, I have to admit that I was somewhat relieved to learn that it was "only A-T" when the alternative could have been HD, which has a deterioration of cognitive reasoning in addition to the physical limitations. Just having to cope with the physical disabilities somehow didn't seem quite as bad.
Ataxia-telangiectasia (A-T) is a rare genetic disease that attacks in early childhood. It progressively affects coordination and muscle control, can severely compromise the immune system and predisposes patients to fatal cancers. These children are usually unable to walk by age 10 and rarely survive their teens.
The biggest blow came a few months later as I started to notice similar traits in Ben's twin sister, Rebekah. I took her in for testing also, and within a few weeks, she too was diagnosed with A-T. This was a very hard blow for me as I was already trying to cope with the news of Ben's diagnosis, and now my only daughter also had the fate of this awful disease. Our surprise baby, Rachel, that came along seven years later, is now four and has also been diagnosed with A-T.
As we have traveled the road of having three disabled children with A-T, we have learned and experienced much that we would like to share. We have found life-improving therapies that are working for us and we are anxious to share them with the A-T community in hopes that they may be of help to others facing this uphill and relentless battle.
https://www.ambrygen.com/material/oncology/understanding-your-results/atm/1011 The new pediatrician started by checking for an inner ear infection, having his eyes checked and he also ruled out the possibility of HD. We then went through a nine month period where Ben continued to display an unsteady gait, and he became a "human pin cushion" as test after test was performed on him in our search to find answers. We kept praying that we would find an answer, but we were very discouraged when the neurologist from the University of Utah was ready to call Ben's condition "unspecified ataxia".
What I believe was an inspirational breakthrough came shortly thereafter, and we were called back for just one more test. It turned out that Ben was suffering from a rare genetic disease called Ataxia Telangectasia, or A-T. As bad of a disease that A-T is, I have to admit that I was somewhat relieved to learn that it was "only A-T" when the alternative could have been HD, which has a deterioration of cognitive reasoning in addition to the physical limitations. Just having to cope with the physical disabilities somehow didn't seem quite as bad.
Ataxia-telangiectasia (A-T) is a rare genetic disease that attacks in early childhood. It progressively affects coordination and muscle control, can severely compromise the immune system and predisposes patients to fatal cancers. These children are usually unable to walk by age 10 and rarely survive their teens.
The biggest blow came a few months later as I started to notice similar traits in Ben's twin sister, Rebekah. I took her in for testing also, and within a few weeks, she too was diagnosed with A-T. This was a very hard blow for me as I was already trying to cope with the news of Ben's diagnosis, and now my only daughter also had the fate of this awful disease. Our surprise baby, Rachel, that came along seven years later, is now four and has also been diagnosed with A-T.
As we have traveled the road of having three disabled children with A-T, we have learned and experienced much that we would like to share. We have found life-improving therapies that are working for us and we are anxious to share them with the A-T community in hopes that they may be of help to others facing this uphill and relentless battle.
https://pubmed.ncbi.nlm.nih.gov/10814674/
Hello, my name is Chelsey and I am very new to this. My son was seen at Children's National a year ago and was officially diagnosed with A-T 2 days ago. My son Jack is 3 years old and was diagnosed with cerebral palsy at 17 months. The phone call we received the Tuesday before Thanksgiving was shocking considering Jack had already been diagnosed. I'm searching the internet for ANY information that might be available from other people to help us with next steps and ways of coping. Any help would be appreciated. Thank you.
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