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Question about symptoms

Tonivr
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What are the most common symptoms? My going on 13 year old son was just dx'ed with ALD, we are waiting to see the genetic dr for me to be tested. I also have Ehler-Danlos Syndrome and fibromyalgia. One of the things I am curious about, I have 2 deterorated discs in my lower back that have caused pain. Right before Xmas 08 I was walking out of the grocery store and wham, both legs gave out and I hit the pavement. This also happened a couple of weeks later at Walmart, then I had a cart and held on. Is this the type of leg weakness that is common with female carriers??

Lisa

Explore topics in this discussion:

Exercise Surgery Lovastatin Lymphocytic colitis Falls Incontinence Physical therapy Urinary incontinence Viagra Pain Weakness Fibromyalgia Neurogenic bladder

16 replies

jolocny

Hi Lisa,
I hate to tell you this but that's exactly how I started, 15 years before my actual diagnosis. I was so active and strong at that time, so to just fall was beyond anything I knew! It was attributed to being clumsy, etc! I went a lot of years prior to seeing anything else from there ... but please be careful! I remember that I never had a clue as to when it would happen. I never had pain as the AMN progressed (so many of the folks do), I had complete numbness. In my mid-40's I found that my response to exercise became very different and the day after working out was my most difficult. I just couldn't walk, period. At least pain is an alert that something is wrong! You'll see a lot of people on this site have similar symptoms, a few have none to extreme. I hope you'll keep yourself in good health ~ it's the only way to help yourself and your family! And please know this ~~ it brings a different view of life, not necessarily a bad one! Be your best ... for YOU first. Every thing else falls in line after that!
(((hug)))
JoAnn

Emcee70

All of your symptoms can be attributed to AMN. My left knee gives out often. I have a knee brace with steel sides that I sometimes wear, particularly after a workout. Physical therapy has helped me also, with strength and balance. Accupuncture in my lower back helps with my legs. I still need pain medication, which makes me drowsy. So I'm still looking for answers, too. My neurologist is beside himself trying to make me comfortable without doing harm.

Please take care. You're the only you you've got!

Patience

Hi Lisa,
I find that it's sometimes hard to know what is causing symptoms. Your herniated discs might be causing the problems with your legs. I was having problems with my legs and falling in 2001. An MRI showed discs in my cervical spine had deteriorated and bone spurs were pressing on nerves, causing me to lose signals to my legs. I had the discs removed and a plate attached to my spine. I no longer had my legs turn to noodles, but I still have incidents with my balance and falling (AMN).

wenALD

I have problems now with my feet dropping. Years ago my legs would just give out with no warning. Now my feet cause me to trip without warning. I have always bounced back well after hitting the ground until 6 weeks ago when I fell and broke my kneecap! You know the weakness in the legs really shows up when you have to rely on one "good" leg and an "Immobilizer" on the other. I can use the walker now but I am very, very careful. I just hope that this is not an indicator of the future. I am 58 years old now, and this has not been fun. It is interesting how AMN symptoms creep up on you. But now my neurologist thinks that my cervical stenosis could be causing some of my problems. They want to do surgery to see if relieving that will help me get better. The problem is they really don't know if it will or not. Surgery is a big decision. What do the rest of you think?

alsrgnt

I don't think I have contributed directly on this site but I frequently check it to see what people's thought/comments are. I'm a 27 year old female with AMN and started showing symptoms at 21. Ugh. I was diagnosed in May of 2008 and have spent the past few months learning everything possible about this disease. My first symptom was bowel incontinence. I was in college and just was NOT able to hold anything in. It was awful and I spent years looking for answers. I was finally diagnosed with Lymphocytic Colitis in 2005 which gave me answers for a brief period of time. I was aggressively treated with 6 months of steroids and up to 18 Immodium A DAY. That's some serious Immodium! After the bowel incontinence had finally improved to just the occassional accident, new symptoms came my way. All of a sudden I started to experience urinary incontinence. Really? Ugh again. I went to a urologist here in Boston and he recognized that I have a "neurogenic bladder" only seen in people with MS and spinal cord injury. That's when I knew I was in trouble. Had all the MRI's and a spinal tap that ruled out MS and then we started all the blood tests. I came back as a carrier and got into the KK study right away. I also got connected with a great neurologist at Mass General who I see once a month. He said that the Colitis and incontinence are 100% from the AMN. I most recently have been unable to orgasm due to AMN as well. Ugh, it took the fun one. I also have LOTS of muscle spasms in my legs and feet and I'm pretty good at running into things as well! I was prescribed Viagra but my insurance won't cover it and I'm getting Botox shots for my bladder on Friday the 13th. That's my story, I hope it helps others!

Andrea

Tonivr

Andrea,

Who do you see at Mass General? My son with ALD has a appt with Dr Eichler on Feb 11.

Lisa

Emcee70

wenald,
Do NOT let the doctors do any surgery on your spine. I was specifically told by Kim Hollandsworth at Kennedy Krieger to not let anyone do surgery, that it wouldn't help with the symptoms I'm experiencing. However, if they could remove the bone spurs, perhaps you would be more comfortable.

tonivr,
Dr. Eichler is one of the best pediatric neurologists in the country, and one of the best ALD researchers around. You can't go wrong with him. His dedication to this disease is extraordinary.

alsrgnt

I see Dr. Eichler also and he is fantastic!

Tonivr

For those of you who see Dr Eichler, what is he like regarding vitamin supplements? I am finding some info that B12 can help with remylination in MS patients, and N-acetylcystine as a antioxidant.

Lisa

sjm

Hi
I have read information about N-Acetylcystine and it is supposed to be beneficial. You can buy it at a health food shop without a precription "NAC". Have you asked your Doctor about Lovastatin? Dr Singh has been doing research on Lovastatin and its effect on lowering VLCFA. I think the research has positive results. Dr Singh can also be contacted, I think he does his research at the university of South Carolina.

Hotsparks

wenALD,

I agree with emcee70. My husband had a cervical fusion last year. It did help with the numbness he was experiencing in his hands, but it did not help with the toe drop or his walking at all. And the recovery time is very long - he had to be extremely careful not to fall for several months (my mother moved in to help care for him)!

wenALD

Now you have all scared me. I'll let you know what the doctors say after the MRI.

Persson

Hi i need some advise.I am 26 years old and was diagnosed as a carrier in 2005. I was diagnosed due to my uncle having the illness. I have never shown any symptoms, until recently (not sure if i'm just being paranoid). For the last 6months i have had a tingling sensation down my left leg, mostly around my knee area. (it comes and goes). My legs tend to get very tired at times....I had problems in the past with shooting pains down my right leg, which seems to be coming back. And i feel my balance isn't that great either (my balance and coordination has never been great). I have also for the last 2 months found that i constantly have the urge to urinate.... I go and then straight after i feel like i have to go again. All this does worry me a bit, but then i am a bit scared that i'm just being paranoid and it's nothing... Does anyone think these are definite symptoms or can this be something else....

FBMOM1

Good Day!
Several of you have said you have been diagnosed with AMN or ALD. How were you diagnosed. Did you just get the VLCFA test or the actual DNA test?????
Please reply.

bnkg

I have 3 boys, and 2 have the biochemistry for X-ALD. All were tested a birth using cord blood. The initial testing is typically for VLCFA. We had them all retested (VLCFA) just to be sure. Years later we did the genetic testing but that was just to try and figure out what type of mutation was the cause. The Dr.'s try to keep track of different variations.

bnkg

Hi, my wife and mother in law are carriers. My Mom in law is in her 60's and has had leg pain due to nerves. My wife (33 yrs) has some minor trouble with her legs. She describes them as being "jumpy" , which sometimes causes her to have trouble settling down to sleep at night. What you're having could be carrier symptoms, but they also sound like problems folks have due to typical back problems or a pinched nerve.

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