Hello everybody, I'm from Italy and I've been diagnosed as ALD female carrier last year, with genetic exams, during the procedure to start and in-vitro fecondation.

My mum resulted a carrier too.

I think my granny passed her the gene: her whole family is full of deaf people and people with psychiatric issues.

My mum and I both suffer of extreme fatigue and, despite being active people, for both of us doing sports has always been difficult. We sometimes have odd sensations like "not feeling our fingers" and this doesn't seem to depend on other problems.

As a girl I thought I had "depression" but now I just know that it's my body not working: in certain moments it gets hard to feel emotions because I feel "tired" for no reason and -this may sound funny- the only thing helping me was having coffee!

I also always had sensory hypersensitivity: strong light, loud noises or touching certain things feels terrible; when many people are talking together for me it's hard to pay attention to the one in front of me and I may overreact if I feel phisically overhelmed... Going to the restaurant when I feel tired may become "a hell". I have always thought I was "asperger", but now I realized all of this may depend on my "Aldo X" gene (I nicknamed It Aldo!).

We had no opportunity to test wether my mum's sister is also a carrier, in any case she has a severe form of schizophrenia.

A few male familiars also have psichiatric problems, while many others became deaf very early.

I talked to various expert people here in Italy and they told me it's odd to find such symptoms, both in men and women, instead of legs mobility problems...

Well, in recent years (I'm 42) it happens after sitting for long time I stand up and I hardly can move my legs, but these are rare moments...

They mainly told me it sounds odd that few men in my family seem to have issues in their early ages, because men generally develop worst symptoms because they have a "Y".

I know there have been abortions in my mother's family history (I also couldn't have babies without the in vitro "stuff"), so I thought many men with the Aldo gene simply didn't come to life...

I registered here to ask wether there are other carriers with similar histories/symptoms and to share opinions and informations, since it seems my mutation mainly causes mental and sensorial issues.

Thank you for whatever opinion and suggestion.

Leukodystrophy

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