43 yr old female AMN patient

I am 43 years old and I have known I was a carrier of ALD since I was 16 years old. My brother died in 1984 after 7 long years battling ALD. I also have a cousin who died in 1999 from ALD and a 32 yr old male cousin with AMN. I participated in the Lorenzo Oil trial at Kennedy Kreiger in 2006, I had to withdraw from the study due to the ill affects the oil had on my blood levels. My progression started when I was in my early 30's with stiffness in my lower extremities upon standing from sitting too long. I was living in Tennessee at the time and my supervisor had read an article in a magazine about ALD and the study. I traveled to Baltimore and underwent lots of testing from MRI's to EMG's and cognitive testing. They suggested the low fat diet of 27 gms a day and the oil. As I mentioned before, I had to halt the trial when my blood levels dropped in about everyway. I continued to watch my fat intake. I found a neurologist here in Savannah GA, that had actually worked with Dr. Moser. What a god send. I currently take Baclofen 30mg TID and Gabapentin 300mg TID. My symptoms have come to include leg spasms, loss of balance, HYPER sensitivity in my lower extremities, there seems to me to be a delay in the message from my lower half of my body to my brain. Thus I fell quite a bit because by the time I realized I was tripping on something it was too late and down I went. I also have incontinence issues that are helped with Toviaz. As with some AMN carriers I also have issues with my Thyroid. What fun this all sounds like huh? LOL! I have read alot of the blogs on here and plan on talking to my doctor about my kidney functions, I wonder if I am emptying like I should. I am so very happy to have found this site. No one around here has what I do. I am blessed to have a son that was tested negative invitro for ALD my daughter has elevated levels of VLCFA and appears to be a carrier. She has chosen to not have children so perhaps this genetic mutation has halted in our family line. If anyone has any ideas of things that they have tried that help with the symptoms that doesn't include more drugs I'd love to hear them. God bless you all and thank you for taking the time to read my blog.

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  • Thank you so much for posting your story. I am a 48 year old female who had only come to realize something was amiss last year. I now have similar symptoms as you: stiffness after sitting too long, loss of balance, leg spasms. I had episodes of falling two years ago before I was diagnosed and a manual physical therapist helped me with my back alignment. I stopped falling.

    I just started taking baclofen after consulting a new physical therapist who specializes in treating MS and Parkinsons Disease patients. He highly recommended baclofen for anyone suffering from spasticity. He also gave me some exercises for tight calf muscles and weak shin muscles. It has only been a week but both medication and exercises work. However, the baclofen is quite powerful and I am not able to increase the dose to more than 10 mg/day yet. Did you have this problem?

    My brother has been suffering more severe symptoms for quite a long time, about 10 years, before being diagnosed. He walks with a cane and has lots of pain. I believe he is also having problems with his thyroid. For example, he is gaining weight for no apparent reason. Can you elaborate on the thyroid issues?

  • On my part, AMN, way out West in Colorado. Every story is different, but don't feel lonely.

    Dean

  • It's great to hear from others especially, in my case, women carriers. I'm a 57 yr. old carrier who was diagnosed 4 years ago with AMN; I'm in Charleston, SC. I noticed some slight clumsiness and falling after I turned 50. I'm on 600 mgs. of Gabapentin 4/day and 20 mgs. of Baclofen 3/day. I have heard others unable to handle the Gabapentin but it doesn't seem to bother me, although I still have a lot of neuropathy pain in the legs. I use a cane or rollator in the house and a powerchair outside and I also have a handicapped equipped van with hand controls and ramp for my powerchair. It is true everyone is different that I've been in contact with but it's nice just to be able to keep in touch with others and share. I need to find a new neurologist as even though my current dr. did diagnose me, he admits he doesn't know much about it so I feel a bit lost myself. I think the hardest to handle now is the pain as it's constant and I can't sit or stand for very long. My youngest daughter's VLCFA nos. were higher than mine while my other daughter was tested negative. I just had blood work done for DNA testing at John Hopkins to determine if it's a true negative. They were both married this year and want children very much. Great to hear from everyone!

  • Hi, My mother turned 75 on the 24th. She doesn,t take anything for the disease. She goes to the gym 3 days a week. I think that is the most important thing to do. I,m 55 with the AMN. I have issues now with the bladder retention if you,ve read my blog. I worked out today with the weights and it,s starting to feel good again. I think I.m going to feel a whole lot better when my kidneys come back to the normal stage. I never have taken any drugs foe 26 years for this. I have been taking Instaflex for my knee joint Pain. It seems to help some. Only the right knee hurts. Having some kind of exercise program I think is the best way to battle this shit. Maybe some day they can shoots some stuff into our lower spine and wonderful thigs can start to happen. Keep the faith, Patrick

  • Lightnin77, you mentioned you have a neuro in Savannah. I'm in Charleston and am in need of a neuro as mine, although diagnosed me after several years of appts. with Cleveland Clinic and numerous others...doesn't know what to do with me and he'll be the first to admit it. So we just keep up with appts, but wish I had a dr. More familiar. Savannah is relatively close and was wondering if you might give me his name. I'm really battling fatigue right now and it 's not unusual to spend afternoons in bed--it's awful. The best to everyone---

    Debbie

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