Misdiagnosis

[Travzw]

Good morning!! So I recently had a visit with my neurologist and he told me that a specialist from Kennedy Krieger visited UVA for a teaching session on AMN/ALD. He handed my record over to him. I have been to Kennedy Krieger years ago to see a different doctor there, he was above the doctor I saw and had previously glanced at my record from when I saw the other doctor there. He told my neurologist that he believes that I have something that mimics AMN. He took my record from UVA to study it more. I am now waiting for a response from him on my diagnosis.

Any thoughts on this revelation??

[monkeybus]

I was misdiagnosed as having Heriditary Spastic Paraparesis. That was up until my genetic test.

I'm not aware of anything mimicking AMN, unless you count MS. Though, the VLCFA test will tell you most of what you need to know.

[Travzw in reply to monkeybus]

My genetic test shows a defect but it’s never been seen before or there’s no record of the defect in other people.

[monkeybus in reply to Travzw]

Hello,

Which of your genes is mutated?

[Travzw in reply to monkeybus]

Abcd1 gene

[bluejadedwho in reply to Travzw]

This is exactly what I was told....completely unique in the entire database. It is however in the abcd1 gene.

[KazzyALD]

I can only think of MS, as I’ve heard of many people with ALD being misdiagnosed with it, but only until they have the VLCFA test. Let us know how you get on.

[COwithAMN Administrator AMN EASIER Volunteer]

May depend what is meant by a "defect" which is too-generic a term to mean much. If it means a mutation in the ABCD1 gene then I would have thought that all it means is you have an absolutely new variant (i.e. mutation) of the gene. Congratulations, if that is the case. Thre are (when I last looked) 800+ different mutations of the gene, all causing AMN. These different mutations presumably cause, or contribute to, our various symptoms.

Still, it still doesn't add up. Unless he/she is carrying around 800+ mutations in his head, then the mutation idea doesn't stack up. The neurologist is being a bit obscure in talking about "mimicking" and you need to pin him/her down when you next get a chance.

[Travzw]

My mother and I have the same c sequence but different p sequence from the genetic test.