Re: Objet : Clouston syndrome in families from Quebec Province, Canada
Hi Katie, OK I am sending you an email now. Thanks for replying. Michelle
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Re: Objet : Clouston syndrome in families from ead Province, Canada
My grandmother was a Clouston from Canada and I was recently diagnosed with a genetic disease called CMT. It appears two of my brothers, one son (out of 2) and one grandchild also have it. My son Chris has recently become the head of the CMT branch in Western NY. My belief is that people with undiagnosed symptoms in this family believe they have something called "Clouston syndrome" but in fact do not. CMT is very close to having a cure identified.
If any one is interested in learning more about this disease or want to compare symptoms, get a diagnosis etc feel free to be in touch with me..
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Re: Objet : Clouston syndrome in families from ead Province, Canada
Hello Therese, I was genetically tested for Clouston and found to have the marker for the disease. It is a defect on the GJB6 gene. Growing up, my father and I were told we had Pachyonychia Congenita but a few years ago, I found a research paper that indicated people were incorrectly diagnosed with Pachyonychia Congenita and really have Clouston's Syndrome. When I went to the genetic testing lab (UMass Medical Research Hospital) they told me that the test for Clouston's is a 99.9% probability but Pachyopnychia is not. They did the Clouston's first and I was positive so they did not need to check for PC. I actually found a whole group of people from southwestern Quebec province that have Clouston's. I am in contact with a couple of them. My grandfather came from Quebec province but we don't know exactly where or who his family is. My father is deceased so I cannot ask any questions. We were shunned by others and so were these poor people from Huntingdon Quebec. I hope your symptoms are more manageable than mine and I wish you success in finding whatever you are looking for. I am trying to find my grandfather's family. Growing up, I knew of no other people like me and that made it hard for others to accept and understand. That, in turn, made me feel terrible about myself.
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Re: Objet : Clouston syndrome in families from ead Province, Canada
Hello, What are the symptoms of CMT and how do you get diagnosed? Thanks Michelle Lalumiere
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Re: Objet : Clouston syndrome in families from ead Province, Canada
Diagnosis of CMT through neurological testing--electrodes in lower extremities family history, and characteristic high arches in feet. Some have scoliosis and hip problems. In the last several years I injured myself badly several times because of what turned out to be a balance problem.. that I was totally unaware of. Like many people with CMT I was/am very awkward.
The disease is unpredictable with many differences even within the same family. One may have problems as a child or not until mid years.
I am seeing the one specialist in this end of the state in an attempt to determine just what gene my illness is associated with. In the USA 80% that have CMT have CMT 1. I tested negative for that gene.
One of my sons who also has CMT started a self help, education group last month and although we expected 5 thirty people showed up. We expect many more in AUG.
If there is a chance you and or your family have this disease let me know and we can communicate further.
Best,
Therese W
By the way my grandmother was married twice with half of her children being Clouston and half Collins.
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Re: Objet : Clouston syndrome in families from ead Province, Canada
I am sorry for what you and your family are going through with CMT. You mentioned there may be a cure soon and I hope that helps you. I am looking for people with Clouston's Syndrome, or HED2 (hidrotic Ectodermal dysplasia). Is there anyone in your family with the disease of Clouston and from Quebec province? Thanks and good luck to you and your family. Michelle
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