Symptoms? Onset of AMN?

Hello everyone,

I'm a 33 year old woman, French, living in Germany. My dad died 12 years ago of ALD (2 brothers of him also died of (undiagnosed) ALD in their childhood).

A couple of months ago, while googling the disease of my dad to explain it to my boyfriend, I realised that I was for sure a carrier and I would probably develop symptoms at some point. I also found out that there is a high chance (50%) of passing it to my children. That was the best news ever to share with my boyfriend...

Since then, I have been feeling really sad and down. I'm also angry at the doctor who treated my dad in France because he knew me and never told me anything...

I finally met a neurologist specialised in this disease here in Germany 1,5 months ago and he confirmed me what I already knew. He asked me if I was feeling anything yet, I said no.

But for a few days now, I have been experiencing some symptoms which could be linked to AMN. I'm not sure because of my current psychological condition, I may be too paranoid, I don't know... this is why I decided to write you on this forum.

Last week end, I had a cold and every time I sneezed, I would pee a little on me... I had to change underwear and pants twice... this is so embarrassing :( I have never been pregnant so it can't be the reason... the only thing I'm thinking of is AMN :(

I have also been feeling some kind of sciatic pain in my left lower limb. Since I haven't done sport for months... same here, I can't think of anything else but AMN (this pain seems common in multiple sclerosis).

What do you think? Are there some women here who could tell me how the onset of AMN happened for them?

Thanks a lot in advance for your answers.

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  • Hi Sandyyy, I'm so sorry to hear how you had to find out you were a carrier of ALD, just be thankful that you found out before having children, as that is how myself and my family found out, despite an uncle being diagnosed. His Dr asked him if his siblings were ok, my uncle said yes, and no more was mentioned, and yet later it was shown my mum was a carrier, but not until my sister and I had both had children. 3 sons between us, and all 3 were shown to have the gene, one has since passed away.

    I am one of 3 sisters, and we all have the gene, but I am the only one who is showing symptoms. I had a nerve conduction test on my legs, about 7 years ago, as I was from time to time going off balance. The test showed that I had mild nerve damage in my legs. Since then, I've kind of been ok. I also have Rheumatoid Arthritis, and because of RA, my Dr just assumes everything I go through is down to that condition, so I have had to do my own research, as there isn't as much info for women, as there is for men.

    My RA is supposed to be under control, but I have pain in my back, and my legs. I am also seeing a Dr now regarding my bladder & bowels, as I'm having problems with both, but mainly my bowels. I am 47 years old.

    It wouldn't hurt to see a Dr, regarding your problems, but it could just be the normal stuff that happens to everyone. With your bladder, I know you haven't had any children yet, but it wouldn't be impossible that your pelvic muscle just isn't as good as it used to be. 33 isn't old, I know, but, unfortunately we all start to have the odd ache and pain, so it maybe just that.

    You do need your mind to be put at rest though, so I would suggest that you see your Dr, and maybe have some tests done. Try not to worry, I know that's easier said than done, but I think your symptoms could honestly be that you're just getting that little bit older.

    I hope all goes ok for you. Sorry my post is so long x

  • Hi Kazzy, thanks a lot for your kind answer to my message. I'm fully thankful that I found out before becoming a mother. I could be a mum by now and this is why I'm kind of angry at the doctor who treated my dad in Paris. How hard can it be getting in touch with me to discuss it. Going through some symptoms myself is one thing but I don't know how I could live knowing that I passed a terrible disease on to my children...

    It is so hard to find information regarding this disease when it comes to women. I was happy to find ALD life and this forum. There is no similar French website. ELA is not really patients oriented. Somehow, I'm no longer feeling alone now.

    I went to the doctor and talked to a neurologist specialised in this disease. As you recommended it, I will run some tests and see. I realise that I panicked but those mild symptoms could be nothing.

    Thanks again :)

  • Hi Sandyyy, keep us posted as to how the tests go. I'll keep my fingers crossed for you that all is well.

    The only connection I remember with France being involved with ALD, was that they were involved with the trial of Lorenzo's oil, and that was over 20years ago. When my son started the oil all that time ago, I just remember only a few countries were involved, and France was one of them, but of course, that is all male oriented.

    Maybe one day, there will be more written about the affects on women. We live in hope.

    I wish you well x

  • Yes I will :) I already planned some appointments at the hospital.

    My dad was involved in this trial. He always had this oil with him, I remember. I don't know how much it helped him, I would say not a lot as he eventually developed cerebral ALD.

    I wish you well too :)

  • While I cannot comment as an AMN male, I do want to let you know that as a carrier you are not alone. There are other sources if you are unable to get a response. In addition, I just received notice from ALD Connect about an AMN Women Webinar Group. Here is the information and following it, I will provide you other sources:

    ALD Connect Breakout Session Call:

    AMN Women Breakout Session

    Date & time:

    Tuesday, January 17th - 6-7pm EST

    Unfortunately, I was unable to post a link with the information and registration but you can contact them for assistance at: info@aldconnect.org

    Also visit:

    inspire.com

    Here you can read and post by joining the United Leukodystrophy Foundation Support Group & Community. Search under AMN Female Carriers.

    European Leukodystrophy Foundation: ela-asso.com/en

    ALD Connect: ‎www.aldconnect.org

    My very best hope and wishes to you.

    Steve

  • Hello Steve, thanks for the advice! I think a webinar is a great idea. I will try to sign up.

  • Sandy,

    Be aware, AMN and MS have been confused with each other.

    There is a danger, as you may have more than one condition causing symptoms, or perhaps something harmless.

    Dean

  • I'm sorry to hear of your pain and sadness. I am also carrier, I found out when my Dad was diagnosed over 20 years ago. I have 2 children, an unaffected boy and a daughter (unknown if she's a carrier yet) it is amazing what help doctors can offer to help.

    I understand how you're feeling, as I rapidly approach 40 I go through times when I think every twinge and pain is the onset of symptoms, ranging from back pain, leg pain and restless legs at night. I have been to the Neurological hospital to get checked out and my mind put at rest.

    Unfortunately there is not a lot of information out there fit female carriers. ALD Life is a charity in the UK that are very helpful and have some information on their website.

    I hope you find some more information x

  • This is exactly what I'm feeling! Any pain, any problem and I make a connection with AMN :(

    How do you cope psychologically with that?

  • Hello and "Welcome" (through gritted teeth, as no one wants to be a part of this "club", but it really is great to have a place that you don't feel so alone.)

    I am also a female with AMN (symptomatic carrier) and I am 41. My symptoms started in my mid/later 30s very mildly and it took a few years to be diagnosed (I asked to be tested after I did a lot of research and after very wrong diagnoses and treatments). I am 41 and I seem to be fairly stable symptom-wise right now...I do notice fluctuations up and down in my balance and pain but I am negative for all the MS tests.

    I hope I can ease your mind a bit for now...at least for me, my bladder issues started as urgency rather than stress (sneezing/coughing urine loss) which from my understanding is more likely w AMN (but I could be wrong). More of a "OMG, I have to go NOW!" Run to bathroom and "oops...didn't make it, couldn't hold it" situation. I had some mild stress incontinence issues once when I younger in my 20s, like you mentioned, long before kids and AMN diagnosis and totally unrelated. My doc back then gave me exercises and told me that it is so common in women at all ages, especially with all the sitting in classes I was doing, my pelvic floor was weak. The exercises cleared it right up and haven't been a problem since. Also, sciatic pain and back pain in your 30s is very very common for many people, carrier or not, and can be due to so many things. I didn't start having my weird "deep" AMN pain until at least a year after I started having numbness and paresthesias in my legs, so I knew something was wrong, but didn't know what, before the pain started. I know it is different for everyone but just wanted to share my story for you. You may be one of the lucky ones who has no symptoms ever from AMN...I hope so!

    I know the place you are right now...hyperfocused on every sign or symptom, sad, scared and even angry. That part will get easier to manage. The questions never go away (could this be from AMN?) but I can shrug and move on much more easily now.

    If I could give one piece of advice (and you can take it or leave it) it would be to stay as active as you can. Exercise, stretch a lot, strengthen and keep moving!! It will help in every way...whether you end up with symptoms or not, you will have a great base of muscle and bone strength and it can work wonders for mood and outlook. If you do end up symptomatic, the exercise and strength give a great base to work from and maximize your "starting line" (I think of it like a skiier on a mountain...the higher my function and strength at the start of the decline, hopefully the longer it will be before I am disabled by it? And so whenever I start slipping, I try hard to push that sled back up the hill as much as I can while I am able!)

    And there are ways now to assist in having children who do not carry the gene, but that is not my specialty so I will defer to others on that.

    Just remember you are Not alone!

    Sorry for writing a novel!

  • Hi Tieaknot, thanks a lot for your message and the advice! It did help me feel better! :)

    I'm in a more positive mood now and ready to take some actions.

    I had the neurologist on the phone and she also told me that stress incontinence is not the kind of bladder issues AMN patients usually experience.

    The bladder problem hasn't reappeared. I sneeze sometimes but nothing in the underwear so far. I don't know whether it was a one time thing but I decided to do some exercises and do pilates. I definitely need to get more active. If the symptoms are already kicking in, then it's like that.

    Just talking and having the feeling I'm not alone gave me some strength :) Of course, I'm not happy that people go through this awful disease, it reminds me a lot on my dad and how he struggled. So I would definitely not wish it on anyone.

  • Hi Sandyyy

    I just 'get on with it' really. I try to keep as active as possible. Firstly I understand this will help if I do get symptoms and secondly I want to 'make hay whilst the sun is shining' . Make the most of it whilst all is good.

    Alex x

  • Can I suggest you contact Professor Alfried Kohlschüetter at university Medical Center 49 (0) 40 74105 6391 He maybe able to link you. Mention me He is a wonderful man! Bob :)

  • Hi Aussiebob!

    I actually met him in consultation at the hospital here :) He really is a wonderful man! Very empathic. And last but not least, he speaks French!

  • Would you like me to do an email intro ?

  • Or is that unnecessary

  • Thanks for the offer though :) that's kind of you

  • Tres Bon . My school boy French is tres mal

  • By the way what about ELA?

  • I contacted them when I found out about my condition. A doctor from the association kindly called me to discuss with me. This was before I had an appointment at the hospital with Dr Kohlschütter. At this moment, I had no idea who could know of this disease in Germany.

    But next to that, there are not a lot of information on the ELA website :/

  • Please go to my website australasianleukodystrophyf... and you will see in Breaking News the breakout sessions that are just about to come up this month. They are free of course and I register immediately for the ones you wish to attend. You will then get to talk to other AMN mums and ask all the questions you want. I would hurry up The first is on the 17th of January so hurry. Bob:)

  • Thanks for the link Bob! But I just noticed that it will be late for me (midnight), I don't know if I will make it :/

  • The EST USA and yes it makes it difficult for the rest of the world . I come out ok in this occasion but often it is difficult timing for me. As these are confidential they are not recorded. There are

    good webinars etc on my website but you probably know most of it. Have a look and see what think .. the ULF has a program to link other members

  • I am a 52 year old female with AMN. My father died of it at 52 years old. My son is affected and now 30 years old and my daughter did not get the gene. I noticed blatter issues around my 30s but not all the time. It appeared to me to be worse during the time of my period. Over the years it was difficult and embarrassing. I had no one to talk with since as everyone will tell you, we were just carriers and not affected. Well now they know that we are all affected one way or another.. I now have a urologist and he has put me on meds that have changed my life. It gets worse as you get older...

    Also, keep active!

    Welcome to the group and know that you are not alone.. This has helped me as I have watched my son and I suffer with this disease.

  • Hello dryder, thanks for your reply. Fortunately, it finally got better for you. Can you tell me the type of bladder issues you have?

    A few days ago, I ran to catch the bus and it happened again a bit... :(

    I bought some Training cones for the pelvic floor but it turns out my pelvic floor is not that weak...

  • My bladder issues started with leakage during cold, walking, dancing, pumping gas (the flow of gas feeling through my hand). It then went to these plus urgency feeling and not able to make it to the bathroom. You start looking for the bathroom the minute you get to a new place so you know where to race too... I did find if I sat still when the first feeling happened, i could focus my mind on it and the urgency would pass... This indicated to me that it is nerve related and not all the common causes that most doctors are trained to be related to bladder. With my meds, I still have urgency feelings but I now have time to make it to the bathroom. More importantly, by taking this medicine, I don't get up 3-4 times at night to pee... I was a walking zombie during the day after not getting enough sleep. That then also caused my foot to drop more and legs to be more tired..

    Talk with your primary to start Detrol and see if that helps. This med alone worked for several years before I had to add another at night.

    I hope this helps, I know how hard it is to deal with this issue.

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