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can someone help me?

forgivenotforget Message
20 Jan 2010, 06:02 AM

my father had adrenomyeloneuropathy. i'm his daughter. what is the chance that i am a carrier of this disease? he died about 11 years ago. where can i get tested for this? please help me. my mom gets too upset whenever i mention this :( i have no one to talk to about this. i don't want to be selfish, but i really want to know if this is going to manifest itself sometime when i get older or anything. someone please help?
anamatias Message
20 Jan 2010, 12:44 PM

Hi, Any neurologist, especially one who has some formation on genetics may help you. I don’t have the name of the analysis right know but it testes the levels of very-long chain fatty acids. In the US this isn’t such a rare disease as in other countries. You may also tell about the movie “Lorenzo’s Oil” which may recall of the diseased. I live in Portugal but in the following topic you can find some information on US doctors or hospitals: Best wishes, Ana
sysharp Message
20 Jan 2010, 07:07 PM

Hi, My mother has AMN. Similarly, my grandfather and two great great uncles were afflicted with a neurological condition. She was actually first diagnosed with MS and, fearing for me and the likelihood that it was passed on genetically she prompted me to go to a geneticist. My GP made an appointment for me; I went gave my history and, sensing something, the geneticist had my Mum come in give more history and a blood sample for testing. The sample was sent to Johns Hopkins and there they discovered a defect in the ABCD1 gene. (My own result, later, was negative - phew!) To the best of my knowledge, then, if you're able to have the ABCD1 gene tested, you should be able to find out conclusively if you're a carrier or not. I can't say what your "chances" are but AMN usually only manifests itself men, and women are usually only carriers, I was informed. My Mum wasn't so lucky, it seems. I hope you have an easy time getting yourself tested, and pray that you receive a negative result! Best wishes, Michael
fdemiranda Message
29 Jan 2010, 11:05 AM

Hi there, As far as I understand, being an "X-linked" condition, and if your father had it, that means that you are a carrier. Which doesn't mean you will develop any symptoms (such as my Mother, carrier, 63 and she is fantasticly fine). You do need to be very careful if you are planning to have family, for you would have a 50% chance of transmitting the condition to your kids. (male could develop either AMN or even ALD). This should not stop you from having family, as now a days there is a lot of support and information and even the procedure available through IVF to select and implant embrions with out the mutation. more information in...