Adrenomyeloneuropathy (AMN) is a rare inherited metabolic disorder that affects approximately 30,000 people worldwide.
|Weakness and Stiffness||Gradual, progressive weakness and stiffness of the legs|
|Weight Loss||Weight Loss|
|Excessive Muscle Tone||Excessive Muscle Tone|
|Difficulty Walking||Difficulty Walking|
|Visual Defects||Visual Defects|
|Difficulty in Articulating Words||Difficulty in Articulating Words|
|Behavioral Changes||Behavioral Changes|
|Adrenal Insufficiency||Adrenal Insufficiency|
|Bladder Dysfunction||Bladder Dysfunction|
|Mild Peripheral Neuropathy||Mild Peripheral Neuropathy|
|Ataxia||Loss of the ability to coordinate muscle movement|
|Muscular atrophy||Atrophy of the limb muscles occur over a period of time|
|Lower back pain||Lower back pain|
|roy2good||Stay indoors and away from crowds especially during cold and flu seasons. Besides that, get things right with God, try to understand why you are 'lucky' to have this conditon. Enjoy life for as long as you have it! Don't complain people don't want to hear complaints! When things seem all out of control and you are at your worst, go to bed and try again the next day! Keep positive mentally and verbally!|
|Arod||I've been living with this condition since 2001. Keep positive, stays as active as you can, & just enjoy live with family and friends.|
|MissSheryl||I participated in a study of Lorenzo's Oil at Hopkins Kennedy Kreiger Center in Baltimore. The purpose was to determine if Lorenzo's Oil had any benefit for women with AMN. The study was terminated after 2 years when no benefit was found in any of the study particpants. Further more, some participants displayed negative reations. For AMN, Lorenzo's Oil appears to be a dead end, at least for women with AMN. Sheryl|
This year's conference will be held in Bethesda, MD on Nov 17-18, 2017. As a conference focused solely on ALD, this is a great opportunity to meet others affected by ALD, learn about the latest clinical trials, and get some of your questions answered by the experts in the field. Learn more and register: http://events.r20.constantcontact.com/register/event?oeidk=a07eee9wfhrb72d3 b6f&llr=e8ntkipab
Thanks so much to everyone who tuned in and submitted questions!
All the best,
My name is Imogen and I'm a volunteer with RareShare. I am hosting a podcast, "Ask the Experts Podcast Series-Adrenomyeloneuropathy Syndrome" next Wednesday June 14 at 10am EST. You can listen live, or listen to the recording afterwards. Find out details, register, and submit questions here: https://rareshare.org/notifications/rgi-rareshare-ask-the-experts-podcast-series-adrenomyeloneuropathy-syndrome
Just thought I'd pass this along. ALD Connect periodically holds conference calls so members of the ALD community can talk to one another about dealing with the disease, create a support network, and develop a stronger community. Please share with anyone who you think might be interested.
There are three scheduled Breakout Sessions designed to cover a number of interests: Men with AMN, Women with AMN, and Parents of ALD Newborns. Learn more about the calls and register through its Facebook page: https://www.facebook.com/pg/aldconnect/events/?ref=page_internal
Yes I use a wheelchair all of the time and transfer. I was worry I am maturing to be fully disabled ):
Yeah the cold makes me much stiffer and therefore it's harder to walk. And our disease is progressive so each winter it may become a little more challenging to get around. What I have found to be most beneficial is daily exercise. The less I move the worst I get, exercise helps me maintain my mobility for sure. Stay strong Anthony.
Yes, I could stand the winters prior. Although, I may have progressed over last year. Thanks guys!
That helps! I did not give the gabapentin enough time to work. I quit after just a few days. I had two different docs tell me that if you quit gabapentin, you have to wean yourself off. Thanks Again! John
Hi John, Just so you know the nighttime dose helped me curb the pain. My pain is not too intense during the day enough for me to take Gabapentin because I already have fatigue and I do not want to add to it. I copied this from a Google search: "It takes about a week for gabapentin to start reducing nerve pain, and two weeks for it to take full effect. Source: Gabapentin for the Symptomatic Treatment of Painful Neuropathy in Patients With Diabetes Mellitus A Randomized Controlled Trial, Backonja et al. ( 1998).Nov 5, 2016" Let us know how this works out. And you're right about doctors. I learned everything from these communities and if I help others, then I am also giving back to our community. Thanks John, and Merry Christmas to you and yours, too.
Hi again Tunesmith! You have been more help to me that my doc! I kinda figured that it took gabapentin several days to start working. I didn't give it enough time. I was taking 300 mg I think? I really like the idea of only taking one pill at bedtime and not several times a day. My doc gave me "tizanidine 4mg". I only took it at bedtime and it didn't work. The nurse then told me to take it 3X a day and it helps some. I think I'll ask him about giving gabapentin another try. I like the idea of taking a muscle relaxer to help me go to sleep! Anyway, thanks for all your help. I wish I could return the favor. Thanks again, Merry Christmas to you & yours, John
I have tried desperately four almost five years now to get a doctor to refer me to the appropriate specialists and I'm still being shuffled from G.P to clinic doctors and I'm looking for inspiration. Wonderful physicians and knowledge base in Alberta and looking to replace it in Ontario, as close as possible to Cornwall,On. Guess that would infer Ottawa or Toronto, however, the Sunnybrook in Toronto has been a complete waste of time. I'm wondering if anyone has good news about an "AMN specialist" locally to us. This is for my husband. He was diagnosed at 45 and is now 50 but had undiagnosed symptoms for years before that. He has both cerebral and spinal involvement and his symptoms are all beginning to progress.
Has anyone with AMN ever had stem cell therapy? If so, did it work? I would appreciate any info. I am a 63 year old man with AMN that includes significant neuropathy in my legs. Thank you.
Hi Shelly, I am also a member of inspire.com and there is a discussion thread Women Carriers with Pain where you will find support: https://www.inspire.com/groups/united-leukodystrophy-foundation/discussion/women-carriers-with-pain/ Also, try aldconnect.org and they have information and videos (probably includes the one you saw). John, by joining these online groups I've learned so much and I have informed by medical care support: Physician, Endocrinologist and Neurologist. The Baclofen is used to stop my feet from spasms and jerking which is most pronounced in the nite. Sometimes I have taken 600 mg of Gabapentin to alleviate the burning pain. When it is most severe, I wish I could detach my feet (amputate). But is a constant bother. You are not alone.
Hello all, I am a sixty-one year old woman, I started having crazy symptoms of "tingling legs and tight feet" about five years ago. I was seeing several doctors due to some feet concerns from a running injury, and would mention these symptoms to them and they would look at me like I WAS crazy! A neurologist even told me, "yes, you have a neuropathy, but if it's not diabetes...." she shrugged her shoulders in a "I don't know what to tell you" type of answer. Well, I became very frustrated, and the symptoms became more intense. I describe the feeling in my feet as that of them being squeezed in a vice-grip ALL THE TIME! Although we knew that ALD was present in our family, with two brothers and a nephew with symptoms, we were always told by the doctors, "women carry it, but men get it" - so I had no thoughts that these symptoms would be related. Randomly, my sister was doing some investigating because her 25 year old son was suffering. She came across the following video on YouTube: https://www.youtube.com/watch?v=QoTEB3kDWY8 which explains the disease in the best way I have seen. About in the middle of the video the commentator explains how women can start having symptoms of "tingling legs & tight feet" in their fifties- WOW, it was right in front of me, but I never gave this disease a thought!! It was a good/bad revelation - good to know I wasn't crazy, bad to know I had an incurable disease that will affect me the rest of my life. The missing gene was confirmed through a blood test, and I was able to be seen by a genetic neurologist at Mayo Clinic in Minneapolis. I am a "naturalist", preferring not to put drugs in my body - especially when they are not proven to help. I continue to work, but it is becoming more and more uncomfortable every day. Sleep is a real problem for me as well, John! I just try to keep a positive attitude and put one foot in front of the other every day. I love to run, and ran three marathons before symptoms started, but running, too, has become more and more difficult. I would love to hear from any other women that have had AMN hit them in their "Fifties' - I do not know anyone else that I can compare notes with. If you have not seen this video, do watch it! It was very helpful for our family, with six members at this time diagnosed with the missing gene, the video explains the different types of symptoms involved. Also, John, make sure you find a neurologist that is willing to learn about the disease, it is so rare, that it does a special doctor to take on the cause! The five living members in our family all see the same neurologist in Grand Rapids Michigan. Shelly
Thanks Josepanton, I am glad that you do not have this neuropathy pain. My wife and I love Barcelona, it is a beautiful city! Thanks for responding, John Unsworth Fort Worth, Texas
I'm attending, and I'm really looking forward to it. The past ALD Connect events have been a great opportunity to talk to others dealing with the same things I am. Hope to see as many of you who can make it. Some travel assistance is being offered.
I urge you to register and come to the ALD Connect meeting in San Diego on November 16-17. The world's top specialists will present, and there will be significant updates on upcoming treatments for children and adults. We have three candidate therapies in the pipeline for adrenomyeloneuropathy (AMN)! It will be an event rich in content, fellowship and hope for the future. http://events.r20.constantcontact.com/register/event?oeidk=a07ed9aipfw6cbe6cee&llr=e8ntkipab
Hi there, I'm Josep diagnosed several years AMN. I'm trying to keep as active as I can. Next month I'll be in Manchester and may be there is someone in our community who wants to meet for a beer or just sharing a talk. Of course if someone is planning to visit Barcelona... please don't hesitate to contact me. I'm in touch by email with some other people in Spain and it's amazing to find out we have almost the same symptoms, problems walking, etc. Best,
|AMN/ALD: A Clinical and Research Perspective (Rare Genomics Institute & RareShare)||Adrenomyeloneuropathy (AMN) is a rare inherited metabolic disorder that affects approximately 30,000 people worldwide. Adrenomyeloneuropathy (AMN) is also known as X-ALD, Addison Disease with Cerebral Sclerosis, ALD, AMN, Bronze Schilder Disease, Melanodermic Leukodystrophy, Schilder Disease, Siemerling-Creutzfeldt Disease, SCD, Sudanophilic Leukodystrophy, XALD, X ALD, X-linked adrenoleukodystrophy, X linked adrenoleukodystrophy.||02/27/2017|
|Adrenomyeloneuropathy (AMN)/Adrenoleukodystrophy (ALD) Podcast Series, Session II (06/14/2017)||
Featuring Dr. Paul Orchard (University of Minnesota) and Dr. William Rizzo (University of Nebraska) answering community questions about Adrenomyeloneuropathy (AMN). Hosted by Imogen Crispe & Deepa Kushwaha. (Music credit:www.bensound.com)
|Adrenomyeloneuropathy (AMN)/Adrenoleukodystrophy (ALD) Podcast Series-06/02/2015||
Featuring Dr Weston Miller (Univertsity of Minnesota), Dr Jay R Shapiro (Kennedy Kreiger Institute, John Hopkins University), Ms Ann Moser (Kennedy Kreiger Institute, John Hopkins University) and Dr Jimmy Lin (RGI)
A website about Adrenomyeloneuropathy
Oliver's Army is a registered charity in the United Kingdom that has been formed to raise money for ALD research. In 2007 the Organization has pledged £100,000 to the Max Planck Institute in Germany.
The mission of FightALD is to educate medical professionals and the community about the symptoms of ALD and AMN to hopefully enable people who are affected get an accurate diagnosis.
ALD LIFE aims to help all affected by or interested in adrenoleukodystrophy and adrenomyeloneuropathy, whether personally or medically. We will try and help you to become Aware, Learn and Discuss the many implications of this devastating disorder.
|United Leukodystrophy Foundation, Inc.||
The United Leukodystrophy Foundation (ULF), incorporated in 1982, is a nonprofit, voluntary health organization dedicated to providing patients and their families with information about their disease and assistance in identifying sources of medical care, social services, and genetic counseling; establishing a communication network among families; increasing public awareness and acting as an information source for health care providers; and promoting and supporting research into causes, treatments, and prevention of the leukodystrophies.
The website of the ALD Foundation
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
Start your own! With a worldwide network of 8,000 users, you won't be the only member of your community for long.
Visit our Frequently Asked Questions page to find the answers to some of the most commonly asked questions.
Created by bsc78 | Last updated 21 Sep 2017, 01:37 PM
Created by icrispe | Last updated 21 Jun 2017, 02:08 AM
Join Rareshare to meet other people that have been touched by rare diseases. Learn, engage, and grow with our communities.FIND YOUR COMMUNITY
Our rare disease resources include e-books and podcasts
Community leaders are active users that have been touched by the rare disease that they are a part of. Not only are they there to help facilitate conversations and provide new information that is relevant for the group, but they are there for you and to let you know you have a support system on Rareshare.