AMN carriers and more

[spalding]

I thought AMN was genetic I have 4 brothers and 2 sisters we were all tested and I am only female who is a carrier my mum was tested and she did not have it my father had passed away so was not tested but if he had I thought my sisters would have it to so I’m confused

[AussieBob]

It is genetic

[spalding in reply to AussieBob]

So if it’s genetic how is that I am only one out of brothers and sisters who have it and my mum did not have it I have passed it to my eldest daughter who has passed it to all 3 of her sons 2 have had bone marrow transplants and are doing ok

[AussieBob in reply to spalding]

I take it your mother was genetically tested ?

[spalding in reply to AussieBob]

My mum was genetically tested

[KazzyALD]

Hiya, a female with the gene can give to sons & daughters. A man with the gene will always give to his daughters, but never to his sons.

[spalding in reply to KazzyALD]

That is what I thought but my dad could not be tested as he had passed away and if he did have it my 2 sisters would have it as well

[AussieBob in reply to spalding]

That is correct however about 5-7% of cases are de novo so you could be the first

[spalding in reply to AussieBob]

Thanks for your information

[AussieBob in reply to spalding]

Any time and if you are chasing definitive published data my email is [e-mail]

[jolocny Volunteer]

Hello! I want you to know that you aren’t alone! I have 4 brothers and a sister who are all negative for the gene. I found out in my mid 40s. Wow! That was a surprise! My Dad passed 28 years ago, so no chance of that testing. My Mom is 94 and will NOW allow testing. There’s no known ALD/AMN in my family besides me!

It can be very confusing but I just had to get ahold of myself and move forward.

I wish you the best!

[spalding in reply to jolocny]

Thank you for that it makes me feel better knowing there are other people out there

[Rosita5]

Hello,

I seem to be the de novo in my family as well. No other known carriers beside my son.

[Muchri]

I only found out when my son was diagnosed with ALD three years ago. One of my 3 brothers got tested and then both my parents, fortunately they all don‘t have anything. But that means I have the gene mutation & started it in our family. Both my sons have ALD.

[kevinmom]

It is genetic, however I am 1 of 10 children and I am the only one who has it. I was told I had a mutated gene. I have 3 boys, my oldest passed away from ALD, my 2nd has AMN and my 3rd did not have the gene.

[spalding in reply to kevinmom]

I’m sorry to hear about your son my eldest daughter has the gene as well she passed it to all 3 of her sons 2 had bone marrow transplants and are doing well her eldest son could not have transplant but he is stable at the moment

[Klorda]

I am 57 years old, female. My older sister, my nephew and I have AMN. I have an identical twin sister and she shows NO symptoms. We have not been genetically tested as of yet. We are working on that with an appointment at Johns Hopkins in Baltimore. We are genetically identical. We've been tested for that.

[COwithAMN Administrator AMN EASIER Volunteer]

Years ago a man came to one of our meetings in the UK. He was in his 60s, had AMN, yet had no symptoms at all. Genetic mutations can give mysterious outcomes sometimes. Scientists have no explanation - yet.

[easygoin1]

The mutation started with my Mother as well. None of her siblings had it, they all had genetic testing. Mom passed it to one of my brothers, who is gone, and me, and my other brother got her good X.

[Debi]

Ok. So i am a carrier and had 2 brothers with the illness and 1 brother without.

My mum nor my nan showed up as being carriers but my mum had to be as she gave it to me and my 2 brothers.

Didnt come from my father. It just goes to show you CAN get a FALSE negative.

Sorry to bare you with this.

[SusanBr]

Hi, sorry for late reply. I’m female AMN and I have 3 sisters, 1 brother, 3 children and 6 grandchildren . Along with cousins etc all have been tested and only I have AMN. Believe mutated gene, unfortunately both parents died when I was younger and before diagnosis.

No explanation otherwise but thankful I have not passed on.

[Cherie]

I am the first in my family. My mother has been tested and although my father died some years ago he showed no signs when he passed away at the age of 73. My older half sister has not been checked but at 76 she has no symptoms.

[bklyn_jay9]

Hello...my mom too seems to be the only carrier in our family and we only found out that she was a carrier because of my brother's ALD diagnosis. My grandparents died years ago, so there is no way to test them. But my mom does have sisters, who do not seem to have the gene mutation, as many of them do not have symptoms and have sons (my cousins) who do not show any signs or symptoms of ALD/AMN either. It is particularly, hard for my family to do extensive genetic testing for this disorder, since they all live in the Caribbean, where they do not have the means, equipment, or doctors who would know to test for this.

[jolocny Volunteer]

Hello! I’m in the same boat - 4 brothers, a sister all negative for the disease. I started with symptoms in my mid-40s. The doctors at KKI told me it does happen and it’s a mutation that happened at the time of conception. De novo is what it’s called.

My daughter tested negatively, my son won’t test. He’s 40 without symptoms. My Dad passed almost 30 years ago, so no testing there. My Mom hasn’t tested, she’s 94. Don’t know if her current symptoms are from AMN or just old age. She has talked about a cousin’s son who was very sick and died young ... he and his wife have both passed so can’t go there for more info. No more kids for them.

I’m trying to deal with everything as it comes up for me. Wishing you all the best!

[shellyj55]

This is still the best video I have seen to explain the disease: youtu.be/QoTEB3kDWY8(Not working as expected?)

[Klorda]

My identical twin sister and I have testied for AMN gene. We both have it although she shows no symptoms. The geneticist explained that maybe the mutation on one of her X-chromosomes may be "inactive". That's why I have symptoms and she does not.

[Klorda]

I meant "tested" obviously.