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Adrenoleukodystrophy

What is Adrenoleukodystrophy?

Adrenoleukodystrophy is a rare disease characterized by progressive brain damage and failure of the adrenal glands.

 

Adrenoleukodystrophy is a rare disease characterized by progressive brain damage and failure of the adrenal glands.
Acknowledgement of Adrenoleukodystrophy has not been added yet.
2.5http://www.geneclinics.org/profiles/x-ald/details.html
Synonyms for Adrenoleukodystrophy has not been added yet.
Mutations in the ABCD1 gene cause X-linked adrenoleukodystrophy. The ABCD1 gene provides instructions for producing the adrenoleukodystrophy protein (ALDP), which is involved in transporting certain fat molecules called very long-chain fatty acids (VLCFAs). When this protein is lacking, the transport and subsequent breakdown of VLCFAs is disrupted, causing abnormally high levels of these fats in the body. The accumulation of VLCFAs is toxic to the adrenal cortex and myelin. This triggers an inflammatory response in the brain and the myelin is damaged.
Children with the cerebral form of X-linked adrenoleukodystrophy experience learning and behavioral problems that usually begin between the ages of 4 and 10. Problems such as hyperactivity, inattention and emotional lability are early behavioral manifestations of the disease. Over time the symptoms worsen, and these children may have difficulty reading, writing, understanding speech, and comprehending written material. Loss of vision, hearing and motor incoordination follow. Adrenoleukodystrophy progresses rapidly and can lead to total disability within a few years. Adolescent adrenoleukodystrophy progresses slower. Symptoms include difficulty walking, progressive weakness in the legs, inability to coordinate muscle movements, seizures, vision loss and difficulty speaking. In adults the disorder manifest with similar symptoms to schizophrenia with dementia.
Name Description
Degeneration of visual and auditory function Degeneration of visual and auditory function
Seizures Seizures
Ataxia Loss of the ability to coordinate muscle movement
Addison's disease Addison's disease
Loss of neurologic abilities Loss of neurologic abilities
When adrenoleukodystrophy is suspected based on clinical symptoms, the initial testing usually includes plasma very long chain fatty acid (VLCFA) determination using gas chromatography-mass spectrometry. Confirmation after positive plasma VLCFA determination usually involves molecular genetic analysis of ABCD1. An MRI can be used to see the characteristic pattern of symmetric involvement of the posterior parietooccipital white matter.
Diagnostic tests of Adrenoleukodystrophy has not been added yet
Treatment with Lorenzo's oil can be used to normalize the level of VLCFA, but does not treat the cerebral manifestations of the disease. A bone marrow transplant can be effective during the initial stages. Allogeneic hematopoietic stem cell transplants can stop the demyelination that occurs in the cerebral forms of the disease. In patients demonstrating adrenal insufficiency, hormone replacement is standard.
The illness progresses at an advanced rate and once the neurologic symptoms appear often leads to a vegetative state within 1 to 2 years.
Tips or Suggestions of Adrenoleukodystrophy has not been added yet.
References of Adrenoleukodystrophy has not been added yet.
UX TESTERS NEEDED: HelpAround Specialty Patient App Created by krystalqle
Last updated 10 Jun 2020, 04:51 PM

Posted by krystalqle
10 Jun 2020, 04:51 PM

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:

  • User Demographic: Any patient who is currently taking (or have taken) specialty meds (now or in the past)
  • Goal: Understand which app feature(s) are/aren't user-friendly (we want your honest feedback!)
  • Duration: 1 hour (each session will consist of a series of defined tasks)
  • Platform: Zoom

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 krystalle@helparound.cc, or respond below. Thank you so much!

2017 ALD Connect Annual Meeting & Patient Learning Academy Created by bsc78
Last updated 21 Sep 2017, 01:36 PM

Posted by bsc78
21 Sep 2017, 01:36 PM

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

http://www.facebook.com/aldconnect/

 

ALD Connect Patient Portal Created by bsc78
Last updated 5 Jul 2015, 11:49 AM

Posted by dryder845
5 Jul 2015, 11:49 AM

Agreed, this is a great resource for those of us in the U.S. Let's help them, help US!

Posted by bsc78
30 Jun 2015, 01:28 AM

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/

Join ALD connect today Created by dryder845
Last updated 10 Jun 2015, 02:31 PM

Posted by dryder845
10 Jun 2015, 02:31 PM

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!

Thank you : RareShare/RGI Adrenomyeloneuropathy (AMN/ALD) Podcast Created by deepask1
Last updated 7 Jun 2015, 05:39 AM

Posted by deepask1
7 Jun 2015, 05:35 AM

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/

Liam's Hope Created by jmorganff
Last updated 5 Jun 2015, 05:52 AM

Posted by Loribeth82
5 Jun 2015, 05:52 AM

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!

Posted by deepask1
3 Jun 2015, 02:19 AM

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

Posted by jmorganff
29 May 2015, 09:18 AM

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.

RG/RareShare Ask the Experts Podcast Series Created by deepask1
Last updated 19 May 2015, 04:23 AM

Posted by deepask1
19 May 2015, 04:21 AM

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!

Looking for Information Created by jlcams
Last updated 24 Apr 2014, 02:17 AM

Posted by jlcams
24 Apr 2014, 02:17 AM

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)

Cannabis and it's pain relief and muscle relaxing benefits Created by shane1971m
Last updated 11 Mar 2014, 04:12 PM

Posted by Aish
11 Mar 2014, 04:12 PM

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.

Posted by shane1971m
6 Mar 2014, 05:21 AM

Does anyone use for helping make everyday life and mobility more tolerable?

ALD Life Created by ALD_Life
Last updated 6 Jun 2013, 10:42 AM

Posted by ALD_Life
6 Jun 2013, 10:42 AM

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: info@aldlife.org

Community Resources
Title Description Date Link
ALD Life

ALD Life, is the UK charity supporting patients and their families affected by Adrenoleukodystrophy (ALD) and Adrenomyelineuropathy (AMN)

03/20/2017
The Myelin Project

The Myelin Project is an international scientific research organization aimed at accelerating clinical and translational research focused on Myelin repair.

03/20/2017
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.

03/20/2017
ALD Foundation

The website for the ALD Foundation.

03/20/2017

Clinical Trials


Cords registry

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.

  1. Complete the screening form.
  2. Review the informed consent.
  3. Answer the permission and data sharing questions.

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.

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Community User List

I am the grandmother of a little 5 year old boy who has just been diagnosed with ALD.
Carrier AMN, mother of adolescent boy with Addison-only type ald, EMT-I, paramedic intern

I have a son with cerebral adrenoleukodystrophy and a daughter that is a carrier. I am a symptomatic carrier. 

I am a 40 yr old female with ALD. I have 3 children. My oldest son passed away at age 8 from ALD in 200, found out my my middle child has AMN 4 1/2 yrs ago when she was 15, and found out my last...
I was diagnosed with AMN in Jan'15, based on symptoms progressing over the past decade. My son (born Sept'12) was diagnosed with X-ALD a couple of weeks later based on a blood test.
Program Manager, Scientific Programs, RareShare
I am project manger for Uk charity ALD Life, I am also a carrier of Adrenoleukodystrophy, and have carrier symptoms similar to AMN. My son has Adrenoleukodystrophy and Addison's disease
I am Mom to 4 amazing kiddos....3 on earth and 1 in heaven.

 

 

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...
We are a patient support group and registered charity for patients and families affected by Adrenoleukodystrophy (ALD) – a rare genetic disorder that affects mainly young boys.

 

 

We...

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 have a grandson who has ALD. We are wanting to be informed of current research in finding a treatment for thhis dreaded disease.
I'm a patient of AMN hope to find a cure
Hi. My name is Adam. I have ALD.

 

I also have some pain in my legs. I want to talk to some people about a fix to help me with the pain.

 

My father died in 1995 with AMN, my son and I are now sick.
My name is Kimberly, and I have AMN. The disease has been passed down in my family for many generations. My older brother passed away of ALD in 2001. My mother has AMN. Her father and his two...
I am a friend of someone who just received diagnosis of X-ALD. So to help him and his wife I'm trying to find as much info as I can. They also don't understand english very well. Any information...
Diagnosed with AMN Nov 2009 and Addisons in Dec 2002
I still love life even though it can bring me down. Take the good with the bad. Live life to the fullest and be as happy as you can.

 

 

Oh yeah. I'm a 24 year old male. I live in Orange...
My boyfriend has AMN and I feel that I know more about his disease than he does.
I was dianosed in 1993 with X-linked ALD after my nephew was diagnosed the same year. He passed away September 28, 2004 being just 9 years old. It was on my birthday. My father and I had been...
I have AMN, I've had it since I was 27. Now I live in an adult family home so they can help me out. I miss my life before.
I am the Executive Director of The Myelin Project
My thirty-five year old husband was recently diagnosed with adult onset ALD. He has white matter lesions on his brain and psychiatric symptomatology.
An X-ALD carrier with two daughters, both carriers. My eldest daughter has 3children, eldest grandson and b/g twins. Both of my grandsons have X-ALD.

 

I think I'm developing mild AMN too! Its...
I am the Executive Director of The Myelin Project.
Father of an 11 year old son Brendan who died of Adrenoleukodystrophy in 1999. I am also theFounder of the Australasian Leukodystrophy Foundation. I have a very strong relationship with all the...
I am a mom of 3, my oldest is almost 18 and has asymptomatic ald. I have a few problems of my own, but my motto is this.....it could always be worse. We found out about this disease in our...
41 year old female carrier of ALD.
I am currently 36 and an American, though a teacher in Albania. I teacher various English and Social Studies subjects in a small international school. I don't walk far any more without a cane. My...

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Discussion Forum

UX TESTERS NEEDED: HelpAround Specialty Patient App

Created by krystalqle | Last updated 10 Jun 2020, 04:51 PM

2017 ALD Connect Annual Meeting & Patient Learning Academy

Created by bsc78 | Last updated 21 Sep 2017, 01:36 PM

ALD Connect Patient Portal

Created by bsc78 | Last updated 5 Jul 2015, 11:49 AM

Join ALD connect today

Created by dryder845 | Last updated 10 Jun 2015, 02:31 PM

Liam's Hope

Created by jmorganff | Last updated 5 Jun 2015, 05:52 AM

RG/RareShare Ask the Experts Podcast Series

Created by deepask1 | Last updated 19 May 2015, 04:23 AM

Looking for Information

Created by jlcams | Last updated 24 Apr 2014, 02:17 AM

Cannabis and it's pain relief and muscle relaxing benefits

Created by shane1971m | Last updated 11 Mar 2014, 04:12 PM

ALD Life

Created by ALD_Life | Last updated 6 Jun 2013, 10:42 AM


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