Women with cerebral ALD/AMN? Male adult transpl... - AMN EASIER

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Women with cerebral ALD/AMN? Male adult transplant ?

Genevieve34
Genevieve34

Hi everyone. I would like to have your output on the subject, as well as share my family's journey with the disease. First let me introduce a bit myself. Im a 34 years old women (NOT a carrier) from Montreal, Canada. I speak French, so please excuse any mistakes. It's kind of hard for me to write in English, especially with medical terms.

My mom (63) and both my brothers (38 and 36) suffer from this disease. My youngest brother was diagnosed at 14 with ALD, showing only symptoms of Addisons disease since early childhood. It's his increased pigment (melanin) in the skin that eventually made the doctors suspect ALD and then research all our family. Turns out my other brother (and my grandfather, my aunt and one of her son) had also the gene mutation but was asymptomatic, so was my mother (and it was thought at that time, in 1998, that women carrier never get symptoms). I was also tested at the time and found out to not be carrying the gene.

My 38 years old brother, though asymptomatic for a long time, started to have lower body symptoms in his early 20's, and eventually was bound completely to a wheelchair around 28 years old. He also had other 'typical' symptoms of AMN like bladder control issues and extreme fatigue. He still had a wife and 2 kids, working as a mechanic in his own shop, adapted to his disabilities.

My 36 years old brother managed to live a good life, have a wife and kids and then eventually started to show behavioral adnormalies in the last 5-6 years (although it is extremely hard to say exactly when these started). It got to a point where he had cerebral damage and it was to late to try anything. After escalating symptoms and added lower physical body issues, he now lives in a full time caring home and he just 'isn't there' anymore. He has some short term memory problem but long term memory still works, and he doesn't seem to really understand (thank god) what is going on.

My 38 years old brother seems to have cerebral damage as well, as he began to have important behavioral changes in the last 2 years, which have accelerated full speed in the last 2 months. He his now in a 'critic' position and his medical team is trying to see if a transplant could save what he has left. I understand that there has only been a very limited amount of transplant on adults, but it may be his only chance to avoid 'ending' as bad as my other brother, even considering the risks of the procedure.

It is an extremely hard moment for both my parents and I, especially for my mom who also suffers a variety of symptoms since her late 40's. All the information I had in the past was that Cerebral form of AMN was never affecting women. But now seeing how bad it affects both my brothers, and knowing that AMN/ALD is still very unknown, I am beginning to be real scared that my mom might also get cerebral damage eventually (she already has severe physical symptoms, back pain, bladder control, using full-time walker or wheelchair, and a lot of other).

I am sorry for this loooong post, but if anyone has insight of any of these matters, I'd be happy to hear from you. As a non-carrier, I feel blessed, but also extremely useless, and the only thing I can do appart from supporting my family is to try to be as informed and I can. Thank you !

22 Replies
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jolocny
jolocnyVolunteer

Hello Genevieve!

I'm a symptomatic carrier, 61yo. I started having symptoms in my mid-40s that escalated over the first few years due to extreme stress. I have no family history, so I had no idea what was happening!

As far as I know, women haven't fallen into the cerebral difficulties area. But doctors are now finding that Addison's disease can be found in women. Unfortunately, we ladies haven't been considered anything but carriers for too long. I'm wheelchair bound and have almost no feeling in my legs. Bladder problems are huge right now and doctors want me to self-catheterize. I'm hoping to get an appointment with a professional to talk over my choices with urine control. I am socially active so I can't imagine occasional 'cathetering' (not a word, I'm sure) in a public restroom. I'll share my findings on this site if I'm lucky enough to find some.

I've found having the support of my husband and family to be most beneficial. Fatigue is a monster for me and it took a while for my husband to accept that. When I was first working with AMN, I found that I'd become so fatigued that I'd have 'brain fog'. I had to accept that myself and realize that I wasn't registering physically how hard I was pushing myself, and if I didn't sit down then my body would collapse. Didn't take long to fix that … but it was hard for family to accept that sometimes I'd have to sit for a few minutes before I could continue whatever I was doing. Does your Mom have fatigue?

It's wonderful that you're staying up to date with the latest information! I don't know how much new stuff is really out there for us but I believe that we are being watched closer than ever before, and testing is showing that there are many problems affecting women, too. Thank you for being supportive of Mom and your brothers!

JoAnn

Genevieve34
Genevieve34
in reply to jolocny

Hi JoAnn! My mom does certainly have fatigue, although with all the stress and the things she has to deal for my brothers, anyone would ! Thank you for your kind words, good luck with your symptoms, don't lose hope ! You guys living with the condition all are fighters !

jolocny
jolocnyVolunteer
in reply to Genevieve34

Thanks so much, Genevieve! I appreciate your support! This is a great site to have answers and to allow you, a caregiver, support. Bless your day!

COwithAMN
COwithAMNAdministrator

Hello Genevieve

I am so very glad you have found AMN Easier. I know you will get a huge amount of support from the forum, as indeed has already been happening. Thank you for taking the time to report all your details, especially since English is not your day-to-day language.

Your story is especially difficult considering your two brothers and that you are not affected. That places you in an emotionally burdensome place. AMNers here - women and men - understand this.

I have had AMN for about 40 years and for sure, when I was diagnosed, women were believed to be unaffected. I agree with JoAnn that there seems to be no evidence that women can be affected by cerebral problems. The reasons are not understood, though there are some theories:

“It is thought that the presence of cells that express the healthy copy of the ABCD1 gene protects females with ALD from developing the brain variant (cerebral ALD).”

This comes from adrenoleukodystrophy.info/c... which is a very good source of information, especially since it is maintained by clinicians.

This page is all about females with ALD: adrenoleukodystrophy.info/c...

The absence of cerebral symptoms in women might give you and your Mom some small comfort, even though her current symptoms still cause her much difficulty.

I’ve also seen it reported that women with AMN often seem to have more severe problems with bladder/bowel than men. That’s an area where support and treatment is often poor.

I think you are the first person who has found us from the Montreal area.

We are all here to help, be it emotional help or more practical suggestions.

Chris (COwithAMN)

Thank you for your kind words and the links ! I'll certainly will read all the info I can get and continue to read the posts here.

Hi, welcome to this wonderful group who make me feel like I'm not losing my mind. I was tested was I was 27 and I was told I was a carrier and my son who was 12 had the gene but it wasn't affecting him at that time. My father and 2 of his brothers had ALD. My father passed at 39 years old back in 1966. They thought it was MS at that time. Then his brother in his forties had it and passed then the other brother in his fifties had it and passed as well. They have 1 brother living today but never had the gene. He is now 83 years old.

I also had an older sister who never got tested because she had no children. Needless to say when she was around 61 she was showing signs but didn't even consider ALD. She was slowing getting dementia and they explained it was like her brain was shrinking. They had no idea and by that time this could not be fixed. Slowly she got worse and passed over a year ago with ALD. Woman were always thought of just carriers. Now both my son and I have it but my symptoms are worse than his. I cant walk without pain, sit or stand. I don't know how this will go but they now tell me to see a child neurologist which I'm looking into. Its very frustrating not knowing what to do and none of my Drs. know about this. This group has given me my hope back. I'm going to continue to try and find someone who can help.

I hope you find some answers. God bless. Just keep searching.

Hi Teeka! Thank you for your reply. My grandfather was also misdiagnosed with MS in the 60's and died in his early forties. It seems that the specific cause of the death might be an adrenal crisis (related to Addison's disease), as it wasn't treated ad that time --- as of now, both my brothers take Cortex (cortisone). Here in Montreal we have a good neurologist that knows extremely well the disease, and although she usually works with children with ALD, she also follows our whole family. She's the one who's gonna see if an adult BMT is an option for my older brother.

You say that your sister had dementia, but I would imagine that no doctors could ever confirm if it was related to ALD/AMN ?

Good luck to you and your family, I hope you'll find someone to help!

Aaron98
Aaron98
in reply to Teeka_97

Hello Teeka, thank you for sharing. I hope this isn't too personal of a question, but may I ask what your father and uncles passed away from? Was it related to cerebral disease, or Addison's disease? 40s and 50s seems quite young to die from AMN (though I know it does happen). My own grandfather passed from AMN at the age of 67. It's not entirely clear what exactly he died from, as his Addison's was treated, and he never clearly developed cerebral disease. He just got weaker and weaker, and eventually lost motor function, and slipped away.

I think that there hasn't been much research on what men with AMN actually die from. Does it destroy our organs? I wish I knew better what to expect, or what to do to delay the inevitable. Thanks!

Teeka_97
Teeka_97
in reply to Aaron98

They died from AMN. My dad went blind, cut part of his leg and they had to cut a hole in his throat to breathe. Back then they didn't know a lot about this. But when his younger brother died I had this Dr. who knew about this disease. That's when we all got tested. My son is 43 and his legs are getting weaker but bo pain. I have a lot of pain and the Dr. from Kennedy Kreiger said women have worse symptoms. I never thought this would happen to me being a carrier. This AMN is very complicated. My dad was diagnosed with MS back in the 60's. But they did all the research from the brothers and it was confirmed AMN. My uncle was written up in the medical journal by this Dr. He is no longer in my area and I'm trying to find him to get some sort of answers. You're not being too personal. I just want people to know my experience. Let me know if you need anything else.

Thank you for sharing your story and thank you for supporting your mom and brothers and especially for actively wanting to learn about it! So much is still unknown. Sharing our stories here is priceless as I’ve learned more here than in a medical book or from a clinician.

I believe cerebral ALD is very uncommon in females though not impossible as I have read a few reports of women being affected that way. I know that I do deal with “brain fog”, fatigue/exhaustion at times, depression/anxiety and severe migraine issues that can look like a stroke but they tell me none of that is related to the ALD/AMN so who knows??

I hope you find some support and info here for your loved ones.

Travzw
Travzw
in reply to tieaknot

I’ve had terrible headaches for about 10 years. My neurologist thought it was unrelated but recently with a few small brain lesions I’ve convinced him that it is related. I don’t feel that headaches result in lesions developing from the headaches.

for a 'French Speaker' your english is wonderful! In fact, way better than my phonics laden english!

Hi Genevieve 34, thanks for contacting us. I am in Toronto with AMN mobility and bladder problems. I know of one other fellow in Montreal with AMN. He is about 35 years old. We learn a lot from each other and the fellowship is wonderful. Best wishes.

You don‘t need to be sorry for writing a lot, I think, we try to get out as much information as possible to get the best help as possible.

I read, that females are protected from cerebral involvement from ALD/AMN.

I think researchers collected enough data, at this point in time, to know to a high degree of certainty, that females should be safe from this kind of disease.

You don‘t need to worry, that your mother will be affected by cerebral involvement from ALD/AMN!

If i may ask, what kind of behavioral changes does your 38 year old brother have? Is he otherwise in „good“ health (as healthy as someone could be with AMN ..), I mean no hormonal, heart, respiratory or bone disease or something? Is stem cell transplant even approved for adults with AMN? I always wondered that, because I only heard of very young people with ALD getting a stem cell transplant, because of the risks involved (infections, graft-versus-host, ...)

I hope, I could somewhat help calming your mind concerning your mother‘s health,

Julian

Genevieve34
Genevieve34
in reply to csak

Hi! Thanks for your reassuring words. I will keep hope that my mom will not develop any cerebral damage due to the disease!

As for my brother, I would say that he hasn't (at least not to my knowledge) other health issues than those related to AMN. His first behavioral change was simply verbal aggressiveness, where he just got upset if you didn't agree with something he says (and he never was like that in the past). And as he makes less sense as months go by, it is really tough to talk to him. Then eventually other symptoms started to show, that could be almost exactly described as bipolar disorder: depression (all the 'usual' symptoms that it involves) for a few month followed now by a manic episode: racing thoughts, impulsivity, excessive spending, loss of inhibition. Plus now he has moment where he doesn't make sense. For example, he plans (right now, from the hospital!) to buy a new business and also a new house, but he cannot physically work anymore and has almost no income (?!). And if you try to take some sense to him, he just gets angry.

He is still is the hospital right now, getting assessed by a Neurological Psychologist. He got out of the hospital for 5 days 3 weeks ago (since he, in theory, isn't a danger to himself or others, they had to let him go) and went back to his place. He was alone (even though my parents and I kept contact with him, as well as his ex-wife and a few friends), and did a bunch of weird stuff... Plus because of his physical condition (fatigue+Wheelchair+fecal and urinary incontinence), he his no longer able to cary for himself alone, but he doesn't acknowledge it because of the psychological problems. He ended up driving at night (he still drives his adapted car since nobody can easily revoke his driving license) naked, to a drive-thru, and seemed to have a lucidity moment and asked the employees to call 9-1-1... It's really nerve racking for everyone.

As for the BMT, I read that it has been done on only around 20 adults with the disease in the world, and yes some of the patients died. His last MRI and the neurological report will determine if he his a candidate or not, although it doesn't look too good right now. Understand than the Adult form of cerebral ADL usually ends with a vegetative state followed by death just like the children form, so I guess that's why it may be worth a go even with all the risks.

My other brother (36) , who suffers almost exactly the same psychological problems for the last years, is slowly getting worse, so we might try to 'save' one since there's is nothing else to try!

csak
csak
in reply to Genevieve34

I‘m so sorry to hear this, that your brother(s) suffer(s) in this horrible way.

Did this all progressed so fast (months?) from him starting being aggressive to this totally irrational behavior or did it develop over years?

And the emotional burden this disease has put on you and your familiy is horrifying.

I heard about this kind of progression into a vegetative state, and this is very worrying:

Did any of the about 20 adults had some kind of long term success (longer than five years) with BTM? It is so hard for me to find information about this, when I ask about this at the hospital they usually distract the conversation.

I fully understand that it is the only option, since this kind of progression is basically unbelievable torture to him and also to you and your familiy.

I hope, that they can save your younger brother! It is so sad that there is still no cure for this disease, and most people don‘t even know or care about it.

Genevieve34
Genevieve34
in reply to csak

Thank you for your support!

The transplantation were done recently if I understand correctly (https://onlinelibrary.wiley.com/doi/full/10.1002/jimd.12044), so I don't know about long term... And it seems that very specific conditions are needed to even think about this surgery.

And to answer your question about the progress of my brother behavioral issues, I would say that for about a year or so he was just a little aggressive, and then it all went down the last year, and everything got out of control in the last 4 months. So 2 years ago he was mentally perfectly fine (ot at least it looked like it).

csak
csak
in reply to Genevieve34

I‘m sorry to hear that this progression was rather quick; this must have been a horrible experience for everyone.

Ok, I understand. I hope for everyone, that they will have a long term success or at least as long as it is possible.

I‘ve read that you are from Canada, do you feel there‘s good medical support for people like us, ALD/AMN patients? Do you have ever thought about going to this prestigious Kennedy-Krieger Institute in the US? — Sorry, for asking this; I‘ve had bad experience with the medical support I got over the years here in Austria, I felt mostly neglected and not cared for the issues that were arising with this condition. I guess, it is really expensive in the USA, I wonder how much all of that would cost, one might have to be a millionaire, as I heard how expensive everything medically related in the US is, as long as one is not well insured.

But I think the quality of care will be the same, since the US and Canada, are next to each other and there has to be a good exchange of information and talent in form of skilled doctors moving in between countries.

Genevieve34
Genevieve34
in reply to csak

I actually think my family gets quite good care here and has access to reknown specialists (Genevieve Bernard in particular). And since medical care is practically free here, we never had the need to go somewhere else.

csak
csak
in reply to Genevieve34

This is good to hear. I wish you and your family all the best.

May everything turn out well.

Dr. Eichler did an MRI and neuropysch testing on me a couple years ago due to my tremors. Findings were clear.I now have difficulty with speech but that can also come from spinal issues. I was told women can have cerebral however because they have only begun to recognize women as having issues the testing was not done on women so they won't know how often until MRIs are done as a rule on women.

Some few Women have gotten the cerebral type so please do not panic but it is so. BUT very rare

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