Adrenoleukodystrophy is a rare disease characterized by progressive brain damage and failure of the adrenal glands.
|Degeneration of visual and auditory function||Degeneration of visual and auditory function|
|Ataxia||Loss of the ability to coordinate muscle movement|
|Addison's disease||Addison's disease|
|Loss of neurologic abilities||Loss of neurologic abilities|
Hi! My name is Krystal, and I am part of HelpAround, a digital health startup that's building a mobile platform for specialty patients. The app is designed to help chronic/rare disease patients manage their specialty treatments by providing them with the necessary logistical, educational and community support.
We're looking for patients who are willing to give us feedback on our prototype(s), so that we can improve our user experience. If you're interested, the details are below:
We would love to hear your opinions and see how we can help improve the patient journey for those with rare diseases. If you are at all interested, please feel free to email me at email@example.com, or respond below. Thank you so much!
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
Agreed, this is a great resource for those of us in the U.S. Let's help them, help US!
Just a friendly reminder to tell all you know affected by ALD--patients, friends, and family--about ALD Connect's Patient Portal. It's still in its early stages of development, but it is already giving the scientific community patient input. Polling of those who have already signed up with the Patient Portal has caused ALD Connect to change up its agenda to address precise patient-community needs for its Patient Learning Academy in October in Boston, MA. Give ALD Connect your input. I actually feel like I'm doing something towards progress, and I encourage you too as well. https://nctu.partners.org/ALD/
https://nctu.partners.org/ALD/?utm_source=Copy+of+ALD+Connect+Patient+Portal+-+NOW+LIVE&utm_campaign=Portal+Goes+Live+tomorrow+6.9&utm_medium=email Let's help the experts find our answers!
Dear RareShare AMN/ALD Community Members, We hope you enjoyed the third podcast of our ask the expert series and gained some knowledge to help you in your journey. Thank you so much for participating in our podcast series on: “Living with Adrenomyeloneuropathy (AMN/ALD)-A Clinical & Research Perspective” featuring Dr Weston Miller, MD, Dr Jay R Shapiro, MD and Ms Ann Moser, BS As promised here are the recording links, click here to replay the event 1) Adrenomyeloneuropathy (AMN/ALD ("MP3 Link":http://k003.kiwi6.com/hotlink/htf2j8lz5v/Adrenomyeloneuropathy_AMN_Adrenoleukodystrophy_ALD_Podcast_Series-06_02_2015.mp3, "Direct Link":http://kiwi6.com/file/htf2j8lz5v) , and 2) To enroll in AMN/ALD clinical trials : click "here":https://clinicaltrials.gov/ct2/results?term=Adrenomyeloneuropathy&Search=Search We would love to hear your feed back and please take a moment to fill the Feedback Form: Adrenomyeloneuropathy (AMN/ALD) podcast. We look forward to your participation in our future events and at RareShare Community, Sincerely, Deepa Kushwaha, PhD Program Manager (Scientific) Rare Genomics Institute/RareShare http://raregenomics.org/rareshare/
My heart is breaking for you and your family. I saw a post about Liam on Facebook for the first time tonight, then happened to check in on rareshare, and saw the full story you posted here. (Deepa, the link you posted above is to a different boy's page, also named Liam...) I'll be keeping your entire family close in my thoughts, and in my heart. Our son was diagnosed earlier this year, at 2 years old. No symptoms so far, other than adrenal insufficiency, but this is all just completely terrifying. And I feel for your wife - there's no reason for her to feel guilty - but I'm struggling with those feelings myself. Thank you for sharing so openly. I love to know Liam has such strong parents!
Hi We were able to help create this for you: Good Luck from RareShare & RareGenomics Team "Shooting for Liam":https://www.crowdrise.com/ShootingForLiam/fundraiser/aubinbryant?utm_content=15686247&utm_medium=social&utm_source=twitter Deepa RareShare and RareGenomics
Liam was born 8/30/14. New York state, less then 1 year before began newborn blood screens for adrenoleukodystrophy. Before our sweet baby boy was 1 month old we had confirmed with vlcfa testing and genetic analysis that Liam did in fact have adrenoleukodystrophy. His 2nd MRI on 4/30/15 showed onset had begun. This I am farely certain is the earliest onset has ever been detected. We are now preparing to begin Liams chemo meds in 2 days and 3 days after that he will be admitted to the hospital to continue preparing him for a cord blood transplant. Now given the circumstances, this is probably the best case scenario for Liam. This gives him a chance for a good life. This gives him a chance for a future. We have medical insurance for Liam thru my employer. This will cover the bulk of our medical costs for the transplant. There are many costs not covered by my insurance, medical and otherwise. These costs I will worry about in the future once Liam can come home with us. This will likely be months from now. Possibly many months from now. Our home is about 200 miles from the transplant hospital. Roughly a four and a half hour drive one way. So this will add to the financial burden significantly. Food, lodging, gas and toll booth/parking fees will significantly impact my ability to keep up with an already tight budget. Liams mom had to leave her job about 2 years ago to care for Liams big sister. She was diagnosed with severe cerebral palsy due to a lack of oxygen at birth. Her disability is so severe she can barely even hold her head up. It affects her entire body and she still can only eat thru a feeding tube. All these and many more factors put our family at a great disadvantage financially. I work as much as possible, 15-16 hours a day 6 days a week. This leaves mom , with no help , to care for both children. Her burden is unimaginable already. Now consider the fact that she blames herself and believes she ruined both children's lives. The weight on her shoulders is astounding. Now add to that the fact that she feels our tough financial situation, even before all this happened with Liam, is also her fault because she had to leave her job. Mommy is without question killing herself in everyway. My sister and cousins convinced her to create a fund raiser to help raise funds to get us thru some of these financial hurdles over the next several months. Here is her fund raiser page https://www.crowdrise.com/liamshope/fundraiser/tiffanywalter. Now I am the last person in the world to ask for help from anyone. My male pride exceeds that of most men and I am determined to stand on my own two feet even if it means both feet get cut off. Things have changed for me at an astounding pace in recent days and sitting here I realized I shouldn't stand by while mom fights for her family 24/7. Suffering silently and tormenting herself. Meanwhile I stand on my own two feet proud , Liam gets his second chance at a good full life, comes home from the hospital and finds that his father's pride left our family homeless. I'm terrified and feel helpless in all of this. All I can do is hope and pray for my sweet boys life, try and be there as much as possible, while working as many hours as I possibly can each week. Please share mom's fund raiser with your friends. Share it on Facebook and asked that everyone share it. If you are able maybe consider donating. Any assistance I can provide, consider it done. I was raised to help those in need and until the day I die will continue. Just this time I'm the one in need and I don't know how to do that.
Dear RareShare AMN & ALD Community Members, We are proud to invite you for the upcoming podcast session discussing: p=. “Living with Adrenomyeloneuropathy (AMN/ALD)-A Clinical & Research Perspective” featuring Dr Jay R Shapiro, MD, Dr Paul Orchard, MD and Ms Ann Moser, BS p=. on June 2, at 1:00 PM EST (Details can be found in "here":http://raregenomics.org/rareshare-ask-the-experts-podcast-series-adrenomyeloneuropathy/) (Podcast Dial in Phone # 1-302-202-1112, Enter Podcast Dial in Code # 224093) The 45 minute segment will feature experts discussing the latest developments in AMN. "Here is your chance to ask any question/concern/issue you may have about AMN. Submit your question(s) NOW with this form and/or register to participate in the program.** "RareShare AMN Podcast Registration form":https://docs.google.com/forms/d/1exRshkIT3CJodbZ_zX42klbyvC-IhlQ5lavv3PltIl0/viewform On behalf of Rare Genomics Institute and RareShare we really appreciate your participation!
This is really difficult and a crazy place maybe to post this question, however there is a big question mark in my life and because of the rarity of ALD/AMN I am thinking someone here may be able to help me. I was born in So Ca (Orange County) in 1969 and was adopted at birth (still wondering who bio dad is…I am sure he has AMN) any thoughts???? He had a steel plate in his shoulder from an accident. He and would have been born sometime from 1950-1952 was around 6’2" tall and 180 lbs at the time of my birth. That is all the information I have about him I am Mom to 4 amazing kiddos….3 on earth and 1 in heaven. He was the oldest. He passed in 2000 due to ALD. The other 3 are girls…one is a carrier she had our first grandchild in December, a boy.The next daughter isn’t a carrier and the last is unknown…Dr Raymond said he wouldn’t check her until she was child bearing years. (if I base it on personality and disposition my guess is yes) If there is anyone who might have information or who may know someone who fits this profile any knowledge would be greatly appreciated. I have children who constantly ask me “why we don’t know who he is?” and why my bio-mom won’t tell (I found her in 1992)
Not yet anyway but that's because there's no pain so far. Would certainly consider it in preference to pills as long as we could source it locally or grow it ourselves to avoid enriching the bad guys. Not available legally here yet, though that may change.
Does anyone use for helping make everyday life and mobility more tolerable?
I would like to introduce you to ALD Life. We are a patient support group and registered charity for patients and families affected by Adrenoleukodystrophy (ALD) and Adrenomyeloneuropathy (AMN). We provide support to patients and families. If you require any assistance with your diagnosis, or support from other patients and families affected by the disorder, please get in touch: firstname.lastname@example.org
ALD Life, is the UK charity supporting patients and their families affected by Adrenoleukodystrophy (ALD) and Adrenomyelineuropathy (AMN)
|The Myelin Project||
The Myelin Project is an international scientific research organization aimed at accelerating clinical and translational research focused on Myelin repair.
|The United Leukodystrophy Foundation||
The United Leukodystrophy Foundation is dedicated to helping children and adults who have Leukodystrophy and assisting the family members, professionals and support services that serve them.
The website for 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.
I have a son with cerebral adrenoleukodystrophy and a daughter that is a carrier. I am a symptomatic carrier.
Jonathan was the oldest. He passed in 2000 due to ALD. It was a disease that I had never heard of before, (I was adopted at...
With 42 years old noticed,
47 years diagnosed,
now I am 55 years old.
Long distance walking problem.
Spastic walking. Mentally stabile.
Taking Cerluten for last two years. Cerluten effect...
I also have some pain in my legs. I want to talk to some people about a fix to help me with the pain.
Oh yeah. I'm a 24 year old male. I live in Orange...
I think I'm developing mild AMN too! Its...
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