No family history of AMN

[wilburlois15]

I was diagnosed with AMN just over 12 months ago after experiencing symptoms for 10-15 years. After the diagnostic VLCFA blood test, my DNA was sent for analysis and there was a mistake of ABCD1. My lack of family history of AMN/ALD has always struck me as odd considering I have a brother, my mum has 2 brothers and her mum had brothers as well, no-one has any AMN-like symptoms.

Fast forward 12 months and my mother has now had her DNA tested and this shows that she does not have any mistake on ABCD1. Thus the genetic mistake occurred between her and me. I'd imagine this is an astronomically low probability, but there you go, all genetic defects have to start somewhere. It's just me and my daughter... and hopefully by the time she has children (if), medical science will be at the point where defects in ABCD1 can be screened-out.

Does anyone else on here have a similar story?

[jolocny Volunteer]

YES!! I have no family history of ALD or AMN!! I was tested extensively as my symptoms came on quickly after a stressful time at work. I left that job and after seeing many neuro's that hadn't a clue, I started a 5 month-long testing period to finally be diagnosed as a symptomatic carrier. I also found out I was pretty darn healthy otherwise! Medical history confirmed that I actually started having symptoms in my late 20s. I have 4 brothers and 1 sister that are unaffected.

My daughter tested at the beginning of a pregnancy and is not a carrier - and I have a granddaughter that is such a joy! My son has not tested, that's his choice.

I, too, hope and pray that scientists will find a way to deal with ALD/AMN before much longer! Having attended the ULF Annual Conference last month, I'm confident that they're trying. The whole conference was buzzing over stem cell cures - not for us, yet.

I am very symptomatic and am now in a wheelchair more often than not. But I can get around, I volunteer and try to keep positive as much as I can. Tough some of the time!

It's always good to know that we aren't dealing with this by ourselves! I hope you'll keep posting, I will help (or just listen) in any way I can!

Take care of you, JoAnn

[wilburlois15]

I think it's impossible for fathers to pass it on to sons because as you say, fathers pass the Y chromosome to our sons, which is what makes them male. The Y chromosome isn't much use for many things but it doesn't carry the ABCD1 gene, good or bad. However, because I pass my X chromosome onto my daughter (making her female), she is now certain to be a carrier of my defective ABCD1. Fortunately my son will be free of this has he has received his X chromosome from my wife. As I understand it, mothers can pass onto both sons and daughters but fathers can pass only onto daughters, as would be the case with you.

[tieaknot in reply to wilburlois15]

My apologies! When I saw JoAnn's reply, for some reason I thought this was in the "female carrier" section and mistakenly thought you were as well. My bad! You are absolutely correct about the genetics and I have deleted my previous post. I know there is a percentage of "random mutations" that can occur without a family history as well. As for me, I am praying it begins and ends with me in our family. All the best to you and yours.

[jolocny Volunteer in reply to tieaknot]

I replied as a person with AMN with no family history ... sorry if I mislead anyone! It's interesting to me when I find someone who is in that boat. Dr. Moser told me when I was diagnosed that there were only 16 other cases as is mine in North America at the time (early 2000s).

[tieaknot in reply to jolocny]

JoAnn...no apologies necessary! It was my mistake. I am also a female AMNer and just wasn't thinking this morning.

[jolocny Volunteer in reply to tieaknot]

LOL!! Understood! Enjoy your day!!

[Hillary]

Hi, I am a female manifesting carrier. My brother died from "Shilders" in 1954, pre title of ALD. My mum was obviously a carrier, and my daughter is also a carrier, thought you would like to know that there are ways to stop this condition in its tracks. My daughter has recently given birth to a daughter, using a pre implantation diagnostic (PGD) procedure. They screen the embryo before implantation to guarantee the child will neither carry nor suffer from ALD! I know this is available in UK and USA so should be available for your daughter if/when she is looking to have children.

Best wishes

Hillary