Diagnosed with AMN

Diagnosed with AMN


My husband is 33. He was diagnosed with Addison's disease when he was 18. We have been married for 13 years and have two boys that are our joy. !

Since the beginning of our marriage Gary has complained of knee pain and has had what we thought was restless leg. I am a "professional masseuse" now. I also learned acupressure for pain relief and we have tried every kind of muscle rub out there. Nothing solved the problem and he fell a lot and just had worse and worse trouble with it.

The first of this year he started seeing an orthopedic dr who said he needed his knees replaced and even scheduled him a surgery!! Gary was hesitant to go under the knife mainly because he didn't want to be in the bed and off work for the time it takes to recover from that kind of surgery but was getting ready to try anything to get some relief from the constant pain.

About 3 years ago he started having seizures but didn't take medicine for it. They were only once every 6 months or so. The med they put him on to control the seizures made him very drugged feeling so he just endured the occasional seizure and went about his business. Which, by the way, was his own construction business that was goin along very well.

April the 5th we were at a friend's house and Gary started having a small seizure (hands shaking, staring into space and eyes glazed over). I went and shook him a little bit and he came around only to start having one a little worse. This happened several times, each one worse than the last until he was in the floor with a total body seizure and his face was turning black from lack of oxygen and strain I guess... We called the ambulance and they took us to the ER. They have him TONS of med and couldnt get his seizures stopped. Finally after three hours they tired a different seizure drug and he leveled out. They kept him another hour for observation and sent him home with instructions to come back if he gets worse.

We went home. I cancelled his work for that day and he slept until the next night. Repeat of Sunday night. Same thing again!! Seizures. Ambulance. Tons of meds. Sent home. Slept til the next night.

Tuesday is church night for us and he was determined to go. Same thing again. After church ( while still in the parking lot) he started again. Two nurses rushed over to help and said he wasn't breathing. Ambulance came and they took him to the local small ER where dr Warner was on the floor. She got him stable enough in about 15 mins (miracle!!) to do a neuro exam on him and said "this man is sick. He needs help." She called for a helicopter because he wasn't doin good. All the helicopters within 250 miles were busy so we had to go ambulance an hour and a half away. He had seizures about the whole way there and they put him in a coma when we arrived. He stayed in CCU for 10 days. Was released from the hospital 4 days later. We had a neurology appointment three months away and were sent home with more questions than answers.

He went home on a cane.

We thought that he was just weak from all the med and the long hospital stay and he would be back to his normal self before long. He is tough and a very determined person. He has met every goal he has set his mind to since I've known him. He is a strong strong man. (And I love him with all my heart!!) we thought he would get better.. We were wrong.

We went to see dr Warner when we got home and she said his neuro exam was "grossly abnormal" and with the loss of feeling (why can't he feel???) and use of the ends of his feet it looked like he may have ALS. He told her about the Addison's and seizures and leg pain and stiffness and she said to come back the next day for some blood tests and hopefully she could figure something out. She said she would study on it. The next day she said she had the answer. He had ALD. She got us an appointment with that same neurologist the next week and we started all the tests. MRI of the brain and neck and spine, spinal tap, EMG, blood tests and VLCFA test. He really did have ALD (the adult kind is called AMN). She was right.

He had another seizure episode in May and had to be in CCU again for 4 days and released in 8. We left the hospital may 18th.

That was his last day to walk.

When we got home his legs would not work at all. He had to flop out of the car onto the ground and crawl with his elbows up the steps and into the house. I was so upset. He is very strong though and has great upper body strength. That's been a major plus for us. We got a regular wheelchair the next day and a power chair was donated to us by an elderly church lady the next week. That was a huge help!

He has trouble shaking. He will shake so bad he can't eat. His hands and head will shake uncontrollably and it's a miserable sight. Poor thing. That was very frustrating to him. He gets choked on everything now. Has terrible leg cramps and the pain in his legs is worse than ever.

Dr Warner started him on baclofen and now has him on 20 mg 3 times a day, tizanidine 4 mg 3 times a day, and gabapentin 600 mg 3 times a day (for pain and to help with seizures). He also takes Cortef and florinef for Addison's disease and keppra and depakote for seizures. He is leveled out ok but he has no feeling or use of his legs from the waist down. Is this normal?? Why is it goin so fast??! Is there anything that could help us? Anyone that has had a similar experience? I'm totally new at all this and am very unprepared. Any help would be greatly appreciated.

**The pic was taken right before the hospital visit in April.

10 Replies

  • Keppra has side effects that can impact walking. Keppra, baclofen, gabapentin,tizanidine, individually can cause weakness below the waist. Combined in high dosages like this can cause a roll up effect and cause a lot of weakness.

    Remember some spasticity is important to stand up and walk. The muscles need to stiffen to hold our weight standing up. So too much medication can result in your muscles not being able to listen to the brain and contract. If I take to much Baclofen, or Baclofen combined with Valium( MRI times), I cannot stand. When I have had surgery, the pain medications completely take my legs until I am off of them for a few days.

    I had a neurologist who put me on everything thinking he was helping. In reality he knew nothing about AMN and the result was over prescribing.

    Talk with your doctor and see if you can safely go back to small dosages and work your way up. I have the flexibility to alter by Baclofen and Gabapentin based on how I feel each day. Way less in the summertime than a cold day in the winter time. I find I can think and function better when I take small dosages but more frequently .

    So the Addison's and seizure medications are a must. But look at the Baclofen, Gabapentin, and tizanidine and see how low you can go without having major symptoms. It might be too much medication to fast. There may be a lot of overlapping side effects. It might take a few days for the strength to come back.

    You both need to hang in there. I have had plenty of rough days only to bounce back. Please do not give up hope.

    I wish you both the absolute best.

  • Wow! I had no idea. I will definitely try that! Thank u so much!

    When I read that it have me hope!! Maybe it's not as bad as it looks! U have really made my day! Thanks again.

  • Anytime. You can never over prescribe hope.

  • I feel sorry for what you are going through. I'm 57 and have had Addison's since I was 13. I led a very normal life with Addison's until approx 20 years ago when the AMN symptoms started to show. I had a joinery business for 25 years but had to walk away from it 3 1/2 years ago. I was finding it difficult to walk and didn't have the balance to lift anything. It has got progressively worse. I now can only walk with a cane. I get frustrated with it, but realise that there are people out there worse off than me. I'm taking hydrocortisone and fludrocortisone for my Addison's. I take Baclofen for the AMN. I feel I'm one of the lucky ones if that is possible. Like you I don't think that the experts know very much about this condition. Wishing you all the very best.

  • Thank u.

  • Hi Kirsty, I am so sorry to hear what your husband is going through and indeed you . I am the Endocrine Awareness Project Manager for ALD Life the UK charity who support patients and their families. Are you in the UK? We can still support you even if you're not. My email address is karen@aldlife.org send me an email and we'll try to help as much as we can. Karen

  • Karen

    Thank u so much for caring. I sent u an email Wednesday with my email address. I'm actually from Mississippi, USA.

    We need all the help we can get. Thanks again for reaching out to us.

  • My heart goes out to you.

  • Do you know about the ULF conference in Omaha next week? If you can make it at all you would get a chance to meet other men and families affected by this disease as well as doctors who are real specialists from around the world who may be able to offer you more support than you are getting from his doctors. Go to ULF.org to learn more and if it shows that it is too late to register call them and tell them Janis Sherwood with Fight ALD gave you the information. I'm not sure of there may still be scholarships available to help with expenses.

    I will never understand these doctors who don't take these symptoms seriously until they become unmanageable. Tragic. My heart goes out to you and your family. Thank goodness you didn't have girls because they would both be carriers. I hope that is some small consolation amid all of this.

  • Yes. I always have been so happy with my boys and now I feel even more blessed to have them. It would be so terrible to have to worry about my girls being affected and then our grandchildren.

    And thank u so much I will definitely look up the conference. Hopefully we can maybe go at least some of the time.

    I'm so glad I found you all. ... :)

    Thank u.

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