Cookies help us deliver our services. By using our services, you agree to our use of cookies. Learn more

Conflicting info on Adrenomyeloneuropathy in females

susieq Message
14 Jun 2014, 03:22 PM

My daughter got very sick at age 17. At 19, she was diagnosed with Addison's Disease. A few days ago I saw a geneticist for myself, and when she was taking my family's history she said that my having a sister diagnosed with MS and a daughter diagnosed with Addison's was a dead-giveaway for misdiagnosed Adrenomyeloneuropathy. Some sites say it is possible for females to have this, and others say they can only be carriers. Are there any females on this board who have been diagnosed with this, or does anyone know for sure one way or another if females can have this disease or only be carriers?
Lonelycat Message
14 Jun 2014, 06:43 PM

It is possible. I am 26, male, have had symptoms of AMN for 5 years. I have a 32 yr old sister who is a carrier, but does not have symptoms yet. It is fully possible for a female carrier to exhibit symptoms in their lifetimes. Males are almost always the ones who show symptoms, but it is POSSIBLE for females to have it. In your case, I feel for you, and now we are both struggling together. My best advice is do what I did: get a few (1-3) doctors to look after you, prescribe you drugs, make sure you're not getting really really bad too fast. Most don't have any clue what this disease is, but they can educate themselves. I take steroids for Addison's, anti-depressant for depression, pain killers for pain, and frequently see my doctors to check in for my health. The best best best advice for a symptomatic patient is to have a close support network of people, because as this progresses fast or slow, they're going to lean on you really hard. They're going to need you. Show them deep understanding, deep love. Be their hero. I hope all is well!
jlcams Message
15 Jun 2014, 03:50 AM

As for my family my only son had ALD and passed away in 2000. My 22 year old daughter and myself are both carriers. I know that originally I was told "Females are only carriers" however about a decade ago there was a study done on symptomatic carriers of x-linked ALD. I know myself and daughter both suffer from a lot of low back pain. Sometimes I have difficulty keeping my balance and lately I have intense pain in my legs (left seem worse than right) It seems as though the muscles are tightening all night and yet there is a numbness and pin pricky sensation in the in the bottom of my foot. The last time I went to see a local neurologist (Mesa AZ) for the problems I was having, I was told it was sychosymatic pain from my sons death and to get over it...frankly all that did was got me over looking to doctors for assistance. I have made an appointment however to go to a pain clinic at the end of June because I have a very hard time sleeping due to leg pain and functioning through a normal day without severe discomfort. I am not sure if all this is related to the AMN dx, I haven't anyone to talk to directly.
susieq Message
15 Jun 2014, 04:03 AM

My daughter has the pin prickly feeling in her legs too, and a lot of back pain as well, so that is probably NOT psychosomatic for you. She also falls down a lot. When she starting to get really bad, towards the end of her senior year in high school, she would sleep more than 24 hours straight through, and couldn't walk to the bathroom by herself. I took her to so many doctors, and all said it was stress and depression and anxiety from the transition she was going to be going through of graduation and starting college. She never made it through her freshman year. The doctors called it an Addisonian crisis, and she was put on corticosteroids. They helped, but even now, at 24, she hasn't been able to keep a job or make it in school. She gets completely wiped out, and so achy that she cannot stand up without help. Addison's disease is a bad diagnosis, but this seems even worse. I hope it helps you to go to the pain specialist.
susieq Message
15 Jun 2014, 04:08 AM

Lonelycat, thanks for the info. My daughter takes steroids since she was diagnosed with Addison's a few years ago, antidepressants, and Gabapentin for pain. We've both been frustrated by how little anything helps, but I guess I now know why nothing works very well for her. I hope your support system helps you!
SallyBuckner Message
15 Jun 2014, 12:20 PM

I'm frustrated that so many desciptions of AMN report that we woman are only carriers. My sister, aged 77, died last year after dealing with AMN for years. For the last 4-5 years she was essentially paralyzed from the waist down. I am 82, have to use a power chair, have other serious symptoms, including reduced feeling from waist down. No pain, thank goodness, and neither my sister nor I have Addison's. This is a weird disease. Why do so very few women have any sign of Addison's. Why are we affected from the waist down, but have generally good feeling in chest, upper back, and arms?
susieq Message
15 Jun 2014, 07:51 PM

My daughter has pain all over, although the pain and weakness is worst in her lower back and legs. Maybe one of the reasons for the conflicting info is because it affects each woman who has it a bit differently. I have been doing a lot of thinking about this the past few days. The more I think about it, the more I wonder if my two sisters and I have it too. My older sister was diagnosed with MS, and my younger sister and I have had problems with low blood pressure and passing out since we were kids. And I know I have suffered from extreme fatigue my entire life. In kindergarten at naptime, I'd fall asleep and the teachers wouldn't be able to wake me up for the rest of the day. Through the rest of school, I'd come home, get something to eat, and go to bed for the night. Even now if I do a full day's work, it takes me another full day to recover from it. And I've always been called a clutz, doing things like standing on a tennis court, and just falling down for no reason whatsoever. My legs are so stiff when I wake up in the morning that I have to hobble around til they loosen up, but I have just blamed that on aging. Something I don 't understand though is how does this just suddenly show up in a family? I had two brothers who died of childhood accidents before they were four, but my mom had two brothers, and I have two male cousins. Wouldn't some of them have been affected?
SallyBuckner Message
15 Jun 2014, 08:31 PM

Yes, it does affect each patient differently.. My sister & I spent a week at Johns Hopkins (about 20 years ago), where we were thoroughly examined, lots of tests. Dr. Naidu there was doing a study to see if they could find out why sisters would vary so. (One pair were identical twins, at the time about 70; one was very limber, the other in a wheelchair.) When the study was over, the decision was that it all depends on how much the bad X gene was turned on. If you've studied epigenetics, you know that just learning about genes isn't enough. Various factors make the genes lie fairly dormant or turn on a little or turn on a lot....You'd have to know if your mother's father was affected; if so, he could pass it to your mother, but could NOT pass it to your brothers. (My sister & I got it, my brother did not.)