Female Carriers

[Debi]

Hi, i am a female carrier and have been having bladder and bowel problems for years. For a few years i'v been having problems and pains in my legs, plus weakness in my hands.Had MRI and Neve conducion tests, just some minor issues with the smaller nerves.The pain is like frozen heat sensation with searing pains...Also feels like my bones are hurting too.Cant open jars or twist tops.How can i tell if i am symptomatic?

[COwithAMN Administrator AMN EASIER Volunteer]

Hi Debi

Your symptoms certainly seem to be similar to those experienced by other female carriers. I hope other women will comment for you here. It could also be good to get a referral to one of the doctors that treat one of the female members of this community.

Best wishes

Chris

[Hillary]

Hi Debi, I am also a femail carrier and have very similar issues to yourself. I have also had bladder problems for some years now which have recently got worse since I made it past the other side of the menopause. I have problems with my legs in that I have severe spasams at night followed by pain in my legs as if I had run the london marathon!. I have more weakness in my left leg than my right but neither is what you would call strong. I have no weakness in my hands but do suffer with arthritis in my hands which is not related to AMN. I know what you mean about your bones hurting, its a good discription of the pain. I think from your discription you are symptomatic and you need something to help with the pain especially. I take Amitiptiline at night for the pain along with Tizanidine for the spasams. I thifnk you need to see your Neurologist again if you GP can't help. If I can help at all please send me a message. Hillary

[jolocny Volunteer]

Hi Debi!

The symptoms you list are either something I have (do) experienced or others I've spoken with do. I hope that you'll find a doctor that you can trust to work with you, they can be invaluable once they understand what's going on and that your situation can change quickly.

There are medications that will help with your urinary incontinence - a urogynecologist can help with that. I haven't had much luck yet with controlling bowel problems ... but am seeing a gastroenterologist in a few weeks.

Weakness in the hands is all too familiar. I have to be careful when I notice it, I've been known to drop things or if in motion, fling them across the room! (That can actually be funny sometimes if my husband is in the way! Being that he's a golfer I should just yell "fore"!)

As Chris said, get referral to one of the doctors that work with AMN patients. My experience has been that my sensitivity to meds can be a problem - the meds aren't made for our problems so finding a balance that helps has long been a concern for me. I actually start out at half of the recommended dose and build from there. That may not be your experience. For me, too much of a med can be more troublesome than helpful ... AMN is all about learning what works and what doesn't!

All my best to you ~ and know that you are loved and wonderful!

JoAnn

[Debi in reply to jolocny]

Thank you JoAnn..puts mymmind a little at rest.....xx

[kimmy]

Hi your problems sound very similar to mine, your description is spot on. I was diagnosed approx 5 years ago with AMN, tried Gabopentin & Baclofen as muscle relaxants but found they made no difference. Left leg is a lot worse & am currently using a FES machine (which lifts my foot when I walk & stops me from tripping. Also had bladder problems so take 1 propeverine tablet in the morning. Don't know what area you live in but I see Dr Murphy at the National Hospital for Neurologhy in Queens Square. Hope you get sorted out

[Debi in reply to kimmy]

Thank you...xxx

[COwithAMN Administrator AMN EASIER Volunteer]

Thanks Hillary, JoAnn and Kimmy for jumping in fast to help Debi.

Debi, I think their advice to get to see a knowledgeable neurologist is exactly right. As Kim says, Dr Murphy (Dr Elaine Murphy) would be good. You can ask your GP to refer you to anyone though they may not always respond, stay insistent and they have to respond. I know Dr Murphy a little and she is good and understands AMN. If you need any help with getting a referral to the National let either Kim or myself know. Another possibility is that Dr Murphy might be able to suggest someone competent closer to where you are - in Liverpool or Manchester.

Let us know.

Best wishes

Chris

[Debi in reply to COwithAMN]

Thank you Chris....can i have the full details of name and address of Dr Murphy as tests they have done on me show up ok but i know there is something going on with me.....i am also havig problems for my son Kei as he is showing symptoms now as a 24 year old....and they say there is no point in doing any tests....its only going to prove what they already know ad the enevitable is going to happen...its very hard at times....xx

[Hillary]

Hi Debi, just looked to see if you got any help form the females on here and spotted your comment that they don't want to do tests on your son. I lost my son to ALD and have a daughter who is a carrier so know how hard it is to be a parent with affected children. Tell them you don't care if all it does is prove what they already know, the more information we have the better we can be prepared for whatever happens, as JoAnn said AMN is all about learning what works and what doesn't and we can only do that with information.

Take care

Hillary

[Debi in reply to Hillary]

Believe me...we have tried and tried...even changed the neuro to try to get somewhere...they aint interested. We are even trying to get people to recognise things like the mental illness effects he is suffering with...send us to a physciatrist who said....guess what...its neurological...cant help you...we are continually passed from pillar to post and all they come up with is we need counselling to accept he is dying....Joke...what i need to be done is to be taken seriously and listened too..So this is now what you can see i am up against...xxxx

[kimmy]

Hi Debs think that's disgusting what the drs said regarding ur son, reckon u should put in a formal complaint. Like Chris is u want Dr Murphys details leave ur email address & I'll mail u information. Don't know u know about ALD Life but it's a charity that's for ALD/AMN, look it up it's aldlife.org

Best wishes Kim

[Debi in reply to kimmy]

Yes i know about it hun. Thank you.

[StevenSims]

Hi Debi,

I would go to your GP and demand to see another Neurologist! also a Urologist and a Endocrinologist, I was diagnosed with Addison's when I was 26! and my bladder problems started in my early 30's also he should have mri scan's, I think he should definately see a Endocrinologist as a Addisonian crisis can be fatal if untreated and with medication it's a normal life.

Best wishes

Steve

[Debi in reply to StevenSims]

Been there done that...they have all signed him off as there is no more to be done...Endoctrinologist is happy that he has his addisons under control and cant help with the ALD/AMN....and as for the MRI's...they say there is no point...lol...Welcome to my world people

[COwithAMN Administrator AMN EASIER Volunteer]

Hi Debi

Good news! I have been in contact with Dr Elaine Murphy and she is very willing to see you. As you have to come a distance she says would organise for you to see the uro-neurologist. on the same day.

She says she can also arrange for your son to be seen.

Finally, she could also put you in touch with a consultant nearer to home if you'd prefer to do that.

I will send you a private message straight away with a copy of Elaine's email which also contains all her contact details. (If you have not used the messages features, just click on Messages tab, and you will see my message).

Thank you Kimmy for suggesting the idea of contacting Elaine Murphy.

And do keep in touch with all of us here to let us know how you get on.

All the very best

Chris

[Debi in reply to COwithAMN]

Thank you...xxxx

[kimmy]

Well done Chris, what a star u are getting Debs & her son an appt with Dr Murphy. Debs she's a lovely lady & also sees my 21 year old son who has ALD, fingers crossed Dr Murphy can help u both x

[carrier]

Hello Debi, your symptoms are most certainly that of a female carrier. I am a female carrier with male symptoms and AMN and Addisons Disease (primary adrenal insufficiency). I also have major problems with bowels and bladder and it continues to worsen. I have found that when i am confronted with sudden stress, that is a huge trigger to everything 'letting go' right then and there. I am soon to see a GI doctor for which my Endocronologist says can help me in that area. I have found that i need to eat solid food on a regular basis and this helps also. If i dont eat much, then the problem is worse. My doctors also have me eat fiber, fruits and vegetables to help also and it does. I have also learned to carry with me an extra set of cloths where ever i go, just incase! I also have major problems with my legs, first started out with just simple 'twitching, involuntary kicking, etc' as everyone has described. My legs continued to get worse over the last 8 years and i was looking at being put in a wheelchair. They continue to get weaker and weaker and ache all the time and sometimes when i walk they involuntary do crazy things, one leg will lift way up when i try to walk, my legs just give out on me with no 'notice' and then i fall. I have broken bones and a toes from falling all the time. I have neuropathy in my legs and feet also which also causes much pain, burning and stiffness in my feet which just adds to the problems. I started physical therapy months ago and my legs are MUCH better as long as i stick to my daily leg exercises they have given me to do at home. They also just had me start POOL THERAPY at our local gym who gave me a discount because it was for medical purposes. SEEK PHYSICAL THERAPY ON YOUR LEGS BEFORE ITS TOO LATE !!! Also, i walk twice a day and that helps with my hips and legs and is keeping me walking and upright. As long as i do all these things, my legs are still 'going' but i can tell they continue to get weaker and weaker but again, the physical therapy literaly gave me my ability to walk (somewhat better) back again !! If you have problems with your feet, my physcial therapist gave me a tennis ball and has me roll it around under my feet whenever im sitting down. This has made an incredible improvement in the extreme soreness and aches and burning in my feet and i feel circulation again in them since. If your feet are burning, take a tennis ball, put a slice in it with a knife, squeeze the ball until the slice opens, fill it with water, put it in the freezer and freeze it and use that ball under your feet when they burn and are really sore. I cannot stress how much the tennis ball has helped not only with the neuropathy in my feet but also my legs !! I do not take anything for pain. Do you have or have you seen an Endocronologist? This is also a must. I started out with the same problem as you, doctors simply do not know about ALD and its been a long road of 'hiring' and firing doctors to get to the point im at today. I have a GREAT group of doctors that now understand ALD, AMN & ADDISONS DISEASE and we are all now on the 'same page' !! The frustration is aweful but you must fight on for your own health !!! And one important thing ALL female carriers NEED to know, 70 % of female carriers get Addisons Diseases, however, testing results show negative when in fact they are positive, this information given to me by Dr. Florian Eichler at Boston Mass General who specializes in ALD and now doing research on female carriers. He is one of few and best with much knowledge on ALD, AMN and female carriers as well. I dont know where you live, but if you would like his contact information, i could give it to you. Also, i have pictures of the exercises i do, given to my by my physical therapist that i could scan and post for you. These exercises have helped my legs greatly. Also see a GI doctor about the bladder and bowel problem, my endo says they can help me with that and i see them soon. Sorry about the long post. There's more of us female carriers out here who are sick and do not even know what is happening so know you are not alone and i have found that we are more of a help to each other, spreading the knowledge we have learned onto each other. I hope some of this might help you, be strong, fight hard, and do not give up or lose hope and 'work' your way through the medical field until you find the right doctors, they are out there, hard to find, but they are out there. I had to do my own research and i would bring the knowledge i gained to my doctors, some dont like it, those are the ones to fire and move on to the next. Unfortunately, the biggest thing i learned and helped me, was i had to do my own 'leg work' in the research with symptoms of female carriers and i have taught the doctors here at my hospital and now they have learned from me, not the other way around as it should be. But with rare diseases, most doctors do not understand them, therefore, they dont want to deal with them and have the attitude that "there's nothing we can do for you". When i hear those words come from a doctor, they are gone and i move on to one willing to help and learn. We are all in a 'battlefield' but we must fight to get the knowledge out there !!! Another place that researches female carriers now is Kennedy Krieger Institute in MD. Ann Moser is head of research and she is terrific and she could help you in any area you need help in !!! Let me know if you would like her contact information also. Duke University is also in the lead with much knowledge on ALD, AMN and Addisons Disease. But as i think about it, it is mosts important for you to see an Endocronologist and be tested for Addisons as this is scary and deadly. I have the write up from Dr. Florian Eichler on the facts that most female carriers get this but test results show negative even when we have it. My test results came out negative but they started me on a steroid regimen of fludo and hydro cortizone and i went from being terribley unhealthy, 80 pounds when i first went and now after being diagnosed 8 years ago, im at a healthy 145 pounds. I was very sick with Adrenal Insufficiency and didnt even know it and as i said, it is a deadly disease if not treated !!! But again, you MUST have the information with you showing test results come out negative for some strange reason when in fact most of us have it. Sorry to go on, again, hope this has helped. Hugz and best wishes to you <3 do not give up hope, there is help out there, knowledge and the more research you do on your own, the more the doors will open for you to get the proper treatment you need. But most important, START PHYSICAL THERAPY ON YOUR LEGS AND WALK EVERYDAY !! I have 5 sisters in wheelchairs or leg braces now and im working hard to not get 'there'. Im pretty clumpsy on my feet but atleast they are still working for now !! When we are 'idle' is when we stiffen up and everything gets worse. Agian, so sorry for the book i just wrote <3 XO

[KarenH in reply to carrier]

Hi, Just read through this thread, was very interested in what you had to say about Addisons, I am a carrier and recently had some blood tests, I think I have typical signs of Addisons, but all came back negative although it did show i was anaemic and very low B12, which the symptoms for are many and fairly similar to Addisons!! Could you send me details of the write up from Dr Florian Eichler, thank you! xx

[Debi in reply to carrier]

Thank you so much for taking the time to write this....this has given me so much info, which i wil now follow up on and also try out your exercises...Good luck to you and take care...xxx

[KarenH in reply to carrier]

Hi, still would be very interested in reading the research paper, is there anyway you could send it to me or post it on here? many thanks

[emmalbyrne in reply to carrier]

Hi, thank you for your post. My mam has AMN, thankfully my brother and I didn't inherit the gene. My mother is finding it difficult to get information on exercises to do. I was just wondering if you still had them and could send them to me. Thanks a million.

[racheljonah]

Has anyone else had trouble with or been diagnosed with interstitial cystitis or vulvodynia, and has it been linked to AMN? I am a female carrier of XALD (found via gene testing) but have not yet had the VLCFA test done... (I'm planning on doing it this week though)... I have had recurring problems since I was 28 (am 32 now) with bladder inflammation and also with vulvodynia. I just found out last year about the gene as I was adopted and prior to 2012, had not met anyone from my biological family. My sister has the gene also, and her son presented from a very young age and is on Lorenzo's oil. In the past few years, I've also had major problems with fatigue, mouth ulcers, and inflammation in general. Sometimes I question myself as the doctor's can't seem to identify what's wrong, other than a diagnosis of IC. I'm hoping to find some answers so I can identify the source. Could it be AMN? Just wanted to know if anyone else has had these inflammation and "nerve" issues. I haven't yet had any major issues with mobility, other than the classic "runner's knee" and tight hamstrings, but that's probably normal for someone who's physically active. Thanks for your help!