I had to leave work (assembly line) at the end of September due to extreme back pain that was wrapping around my chest. After 2 months I was able to see a neurosurgeon who could find nothing surgical to fix. But did find a pituitary adenoma though. He did cranial to lumbar MRI.
I knew my cousin was having some of the same problems and he referred me to his geneticist who did find a variation in the ABCD1 gene that she said was disease causing.
I don’t have an appointment with a neurologist until January 15. And endocrinologist February 14. The neurosurgeon did send me for a round of epidural injections to try to ease the pain the final one is tomorrow. They have helped with the back pain and the pain wrapping around my chest. I just hope that it’s not a short fix.
I recently turned 44 (Christmas day) and have a terrible gait that I have started using a cane for. I have had knee pain for years that orthopedic couldn’t find a cause for. And have noticed for a long time that my feet have felt funny, I just never knew why. I have been having incontinence issues and using pad during the day and depends and bed pad at night. And of course the ED. I can’t believe I’m telling all this, but for the first time I feel like I have people I can talk to and not feel embarrassed. It’s been difficult for my wife to deal with so far. Partially due to no real answers yet.
Is there any advise on what I need to approach the neurologist with other than my genetic report? My primary doctor did put me on Gabapentin to help with some pain. I think it’s helping, but I still feel light headed at times and lose my balance. I won’t lie, I’m terrified myself not knowing about any lesions or having any treatment options. I also have a 17 year old daughter, does she need tested? Or does she have it by default?
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Equinney
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Yes she needs to be genetically tested. VLCFAS is not accurate in women. Some of the content from your doctors is open to understanding. I have just found this so I am unaware where you live.
You are a man right? As the disease is X linked you will have passed it on to your daughter so she is a carrier! I have 2 daughters myself! As a man has a X and Y there's only 1 gene you can pass to your daughter, if we had sons they'd have the Y and be disease free! There's nothing really a neurologist can do apart from arranging MRIs, nothing really touches neuropathic pain! I tried everything and was like a zombie! The best I have found is vitamin D3 I was taking 5000iu a day through the winter, until recently when I started the minoryx clinical trial I've been on for 20 weeks and I'm pain free! Hopefully in a couple of years this will be available for all of us? My best advice would be to keep as active as you can and try to be positive! We've got to fight it!
Did you say you've seen a endocrinologist? That's important to have your adrenals checked as some of us have Addisons!
All the best and if you have any questions I'm happy to reply
Get your doc to refer you to a urologist as bladder problems can cause kidney problems but mine are relieved with intermittent self catheters, I now have Botox injections in my bladder so cant pee without them now,
Yes, I am a man. I see an endocrinologist next month for the adenoma. I will definitely let them know about the AMN and have them check my adrenals also. Thank you!
Hi Equinney. Men with ALD can never pass to a son, but will always pass to a daughter. Women with the gene have a 50/50 chance of passing to both sons & daughters. Obviously, they will still want to test your daughter, but it’s good that she knows, so that that she can be careful, when she decides to have a family.
Hi, your daughter is definitely a carrier but get her into the genetics system. I am grandma to a little girl, born by PGD, it stops ALD/AMN completely. Genetics will offer her treatment when she decides to have children. It’s so much easier if they know about her from diagnosis.
I'm 61 and have had symptoms of AMN for approx 25 years. I had to give up on my joinery business 7 years ago because of trouble walking. I now need 2 canes to be able to walk. Thankfully my pain is not as bad as yours. Like Hillary said your daughter will definitely be a carrier. My daughter went to see a geneticist before starting her family. She went through the IVF system to weed out the infected eggs and has a very beautiful daughter, which will stop the ALD/AMN cycle. I have been going to a neurologist for approx 20 years and there is not a lot that they can do. I would suggest a MRI brain scan to make sure it is only AMN. Wishing you all the best.
Just to add, people saying your daughter will be a carrier is incorrect. At best she will be a carrier, at worst she will have AMN. My Grandmother was a carrier, showed no symptoms at all until in her 90's when she passed away. My mother and sister both have AMN. My daughter isn't diagnosed one way or the other at present. Good luck, Keith
'A man with AMN will pass the mutation to all of his daughters and none of his sons. Because women have two X chromosomes, the effect of the mutation may be masked by the other, normal copy of the gene, on the other X chromosome. Women with one mutation are often referred to as "carriers" of an X-linked condition. In most cases, carrier women have no symptoms or are mildly affected.
However, some may be just as severely affected as males with the condition. Women who carry an X-linked condition have a 50% chance of passing the mutation on with each pregnancy.
In AMN approximately 20% of women who carry one ABCD1 mutation will develop progressive stiffness and weakness in their legs, often in middle age or later. These women typically have normal adrenal function.'
A lot less chance of showing symptoms but NOT just carriers I'm afraid.
Sorry that you are in pain. I’m 52 years old, youngest of 7 children and several of us have AMN. The symptoms are very different for men vs women. And among my sisters symptoms vary. I recommend that your daughter be aware that she might develop symptoms as early as 25 like my sister did or later at 48 like me or maybe never like my other sister. But that no matter what a healthy diet and exercise makes it easier especially for women. For the ‘greater good ‘ it’d be nice that she get tested. Otherwise when she is closer to having children is a good time.
We are in the process of getting her scheduled with an endocrinologist to her a full work up. Just to get her checked out. And with a urologist because of some issues there.
I'm sorry to hear about your daughter. My daughter, only one year old, is also a "carrier" (really a misnomer, as we all know). My wife and I haven't figured out yet how to tell her that her boys have a 50% of the gene mutation. Hopefully by the time she is ready to have children, we will have a few more things figured out.
According to all the research, females with AMN almost never develop adrenal insufficiency, so I'm not sure if the endocrinology appointment is necessary for your daughter. Can't hurt, I suppose. I'm sorry to hear about her bladder issues. Those are all too common for all of us. Several of us, including me, take a medication called Myrbetriq that helps with urgency and frequency. It's not a perfect solution, but it has helped me quite a lot.
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