Are carrier symptoms just "mild": Hi everyone! I... - AMN EASIER

AMN EASIER
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Are carrier symptoms just "mild"

taylorkane
taylorkane
12 Replies

Hi everyone! I've just joined the group today. I'm a 20 year old ALD carrier. My family found out I was a carrier after my dad was diagnosed with cALD in 2001. I'm extremely worried about developing symptoms some day, even though most journals describe carrier symptoms as "mild." Of course, most carriers do not get as devastating symptoms as men with AMN/ALD, but regardless I would not consider falling, having to use a cane/walker/wheelchair, extreme numbness in legs, etc. as just "mild" symptoms. When I think of a mild symptom, I think of something like a headache or nausea.

Is the language that carriers may develop "mild" symptoms misleading? Would love to know your thoughts.

PS: I'm from the US and run a Facebook support group for ALD carriers under the age of 30. Just search "YAC (Young ALD Carriers)" on Facebook if you are a carrier under 30 and would like to join.

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Aaron98

Welcome to the forum, Taylor! I have a special place in my heart for ALD "carriers", as there are many women in my family with the gene mutation who are very dear to me. This includes my mother, two aunts, my sister, and my 17-month-old daughter.

From all the research I've done and from family experience, carrier symptoms can vary. They are typically described as "mild", in relation to the multitude of possible symptoms that can affect men and boys, particularly those who develop cerebral ALD. I would absolutely agree with you, however, that living with these symptoms is anything but mild. There is a lady on this forum on the east coast of the US who is a friend of mine (I don't want to mention her name, but I'm sure she knows I'm referring to her, and she may choose to identify herself), who has been described by ALD/AMN specialists as having advanced about as far as a female can, in terms of AMN carrier symptoms. I would describe her symptoms as severe.

Then there are women like my aunts who both have quite mild symptoms, really only moderate balance issues. They are both in their late fifties, and neither requires the use of a cane. My balance, at 33 years of age, is significantly worse than theirs. My mother has several symptoms of AMN, including myoclonic jerks of her legs, balance issues, and bowel issues. Her bowel urgency has become significantly worse in the past few years, and she is now 61 years of age. My 30 year old sister is unaffected so far. Most research seems to indicate that the majority of carriers begin developing symptoms in middle age, if they do at all.

I do not look forward to having to tell my infant daughter that she may develop symptoms of this disease as she gets older, and of course, having to share with her the risk of having boys with ALD. It is my sincere hope that by the time she is ready to think about having children, we will have a few options for treating this illness.

Let us know if you have any more questions, and again, welcome to the group!

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Slgrooms
Slgrooms
in reply to Aaron98

Thank you for sharing about the women of your family that have this. I am a carrier. I was 29 when I found out. My husband and I decided to adopt and end any chances of this passing on in our family. Our son is now 6.

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tieaknot

Hello and thank you!

As I’ve said before, a “mild” case of devastating can still be pretty rotten!

I am a symptomatic carrier and I often feel frustrated by the wording in the articles and research. I am a medical professional by trade and unfortunately the view from that side still tends to be that “carriers” of pretty much anything are asymptomatic despite the new research coming out.

Yes, compared to what can happen to our fathers, sons, brothers, etc. our conditions may be considered “mild”.

But Do we diagnose someone with a “mild” case of cancer? A “mild” shark attack?

Years ago when they thought I had CIDP (chronic inflammatory demyelinating polyneuropathy) and again when they misdiagnosed me with MS...my case was considered moderate and progressive. I was taken seriously. Once those were ruled out and my diagnosis became AMN...suddenly the same signs and symptoms were considered “mild”.

I consider myself mildly to moderately affected now in my mid 40s. I cannot run or jump. There are things I wish I could do but I just can’t. I often walk with a limp and fall occasionally. I have pain in my back and legs 24/7. I have numbness and tingling from my waist down. I expect I will need a cane in the next decade. I frequently have urinary incontinence for which I’m trying meds, Botox and use pads, I have chronic constipation. Fun fun! Symptoms very similar to a moderate case of progressive MS. But compared to a case of inflammatory cerebral ALD??? Definitely mild. My life is affected but it is not “bad” by any means!

Problem is, medical professionals see “mild” and don’t take us seriously. The same symptoms with a different diagnosis would get us completely different care or understanding. I would just like my symptoms, especially pain, to not be brushed off, especially by the medical community after they quickly scan the literature since many have never heard of ALD/AMN in the first place.

This disease falls on a spectrum from asymptomatic to devastating/fatal and everywhere in between, often with overlap of males and females along that spectrum. Here’s hoping that you can stay asymptomatic for a long long time!!

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SongStream

For all you ladies, thank you for enlightening me of how being an AMN carrier affects you! I, too, have always questioned the word "mild" when referring to our symptoms.

If I were to put myself in your shoes, I'd think there was some gender bias going on. I'd advocate and support that more research should include carriers!

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tieaknot
tieaknot
in reply to SongStream

One of the issues with including carriers in the research (according to a recent review) is the fact that our progression doesn’t move along “fast enough” to be able to meet endpoints in the studies. Or it might progress quickly and then plateau repeatedly, but in any case it makes us very hard to study apparently.

Thank you for your support 😊👍🏻

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taylorkane

I definitely agree that there is gender bias going on. Women's symptoms are generally taken less seriously across the medical profession... Just one example, women are seven times more likely to be sent home from the ER in the midst of a heart attack. Women are often seen as unreliable narrators of their symptoms... If they are screaming/crying out in pain they are "exaggerating" and if they are stoic "it must not be that bad." Super frustrating!

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jolocny
jolocnyVolunteer

Hey, Taylor! I’d like to tell you that I’m the person my dear friend, Aaron, is talking about. I was diagnosed in my mid-40s and have no family history. I have been told that my doctor feels that I am at the height of progression for women. I’ve been blessed to have had contact with some of the best medical docs in this field.

My best suggestion to delay symptoms is to find a level of peace within - stress has been my biggest monster. It brought symptoms out and I fell fast into progression. Take good care of yourself! Yes, without current symptoms it’s hard to know what to do, but start now to know you’re body’s responses so you can pinpoint when there is a change! It’s not hard to go into what symptoms you might have eventually ... but you may never have them!!

ALD/AMN isn’t an end-all. Life goes on and will be what we make it!! Sure, there’ll be down times, we all have them, and there’s always someone around to run through it with you! You’ll find support and strength from this family!! Keep up the great work with Facebook!!

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taylorkane
taylorkane
in reply to jolocny

That's great advice. Thank you!

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Equinney

Just want to say thank you for all the work you do!! You are an amazing young lady. My daughter, Aquinney on here, was so happy to be able to have a group to help support carriers. Keep it up!

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taylorkane
taylorkane
in reply to Equinney

Thank you :)

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Klorda

Hi Taylor. I am 58 years old, female, and formally diagnosed last year. My older sister has bladder and walking issues. My identical twin sister has NO symptoms---go figure! I have gait and balance issues and I walk with a limp. I have neuropathy from my waist down. No bladder issues yet. Some days are worse than others. Fortunately, I have always been an exercise fanatic and I feel like this keeps my legs working. I cannot run in the park anymore but I do run on a treadmill and hold on to the bars which is working for me so far. I also bike every day and do the elliptical and weight machines. I feel like keeping that connection between my brain and my legs will keep me going for as long as I can. I don't use any devices to walk but occasionally using a walker gives me more confidence to walk faster. I hope this helps you understand a disease that affects so many people in different ways.

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Travzw

Hi. My mom had the genetic testing done within the last year. They confirmed her as a carrier. Before even doing the test she’s had progressive symptoms that are the same as mine. She’s had a lot of falls from the symptoms and a few broken bones. She’s recently informed me of her newest symptoms being constipation and bladder issues. She hasn’t wanted to start using a can yet but she really needs to. She’s now 48 and progressively getting worse. She’s not on any medication for the symptoms yet because were trying to get her in to see my neurologist which is very hard because in the last few years he’s taken over the neurology department at UVA and has a very tight schedule.

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