Carrier symptoms

[rsoutherland]

Both of my daughters are carriers and I was wondering at what age did any carriers out there start to show or have any symptoms. My oldest (28) will get muscle spasms and also will just be walking when her legs seem to just give out on her.

[KazzyALD]

Hiya, I started having problems in my mid 30’s. The leg spasms, and my legs giving way. I had the nerve conduction test done, which showed I had mild nerve damage. I have got worse, and I now need a walking stick. I’ve just been referred for an MRI. I’m now 49 years old.

[Cherie]

Hi. I started having symptoms when I was 38. I didn't realise that I was a carrier as I was the first in my family. My first symptom was not being able to run properly. I later developed muscle spasms and my legs suddenly giving way. I am now 59 and walk with FES and 2 sticks. I am also looking at getting a mobility scooter. I have one daughter, 33, who is a carrier and doesn't have any symptoms at present.

Kazzy I hope you don't mind me asking as I would be interested in knowing why you have been referred for an MRI?

[KazzyALD in reply to Cherie]

Hiya Cherie, sorry I’ve only just seen your message. I think the MRI is more out of interest to the professionals, to see if there is any change in the white matter, in a female. I suppose I’m pretty interested myself really. If there proves to be any abnormalities, I’ll certainly share the results on here, ok?

[Cherie in reply to KazzyALD]

Thanks Kazzy. It was just that I noticed you were in England. It is nice to know that some doctors are taking an interest in us females.

[KazzyALD in reply to Cherie]

Hi Cherie, I went to my GP, and pushed for a referral. I explained to him that ALD Life told me I needed a referral. I then had to call my surgery twice, as nothing was happening. 8 months later, I finally saw a Neurologist at Southampton General. Although she has referred me for an MRI, she did say it was mainly to see if there would show any changes to a females white matter. So it’s more about the science, rather than me haha. She also said that there was no point in seeing me again, as the only help I needed was to deal with my pain, even though she witnessed symptoms, and even said my arms are also over sensitive, just like my legs. So basically, they’re not that interested, and I’m on my own hahaha.

[Cherie in reply to KazzyALD]

I have been with my wonderful specialist for many years based at Oxford Radcliffe (who has now had to decrease his patients due to promotion!), and he insisted I had an endocrinology check every year. Two years ago it showed I had Addisons. We have since moved to Bournemouth and am looked after at Poole hospital . He said he could refer me to a gentleman at Southampton but felt I was being well looked after by the pain management and endocrinology team at Poole. He said if I ever had an issue with anything I could still contact him. It is so annoying.

[KazzyALD in reply to Cherie]

I have wondered if I should be tested for Addison’s Disease. My son, who is now 31 yrs old, has Addison’s Disease. He is thankfully asymptomatic, and is living a normal, wonderful life. I’m so thankful it’s me with the problems, and not him. Obviously, it didn’t seem quite enough for me to be suffering with ALD, I also have Rheumatoid Arthritis, and pretty severe anxiety, & manageable depression. When I do things, I like to do them big hahaha.

I think I should question the whole adrenal issue with my GP.

[Cherie in reply to KazzyALD]

That is great to hear that your son is asymptomatic. Please do check the adrenal as the only symptom I had was feeling tired in the afternoon so it was a bit of a shock.

[KazzyALD in reply to Cherie]

I suffer with terrible fatigue, and I’ve always put it down to my Rheumatoid Arthritis, and the huge concoction of meds that I take, so yes, definitely worth investigating.

[Aaron98]

My mother, two of my aunts, one of my sisters, and my infant daughter are all "carriers". My mother and her sisters all began showing symptoms in their mid- to late forties. Thus far they are relatively mild symptoms, generally balance issues, bowel issues, and spasms (myoclonus). My sister is 30 and has yet to show any symptoms.

I worry for my daughter, not only because I will have to tell her one day that she may have boys with ALD, but that she may experience symptoms of AMN herself. For now, my wife and I are just trying to appreciate the joy that she brings into our lives.

[Hillary in reply to Aaron98]

I understand your worries for your daughter, my daughter is a carrier (age 34) she has no symptoms and has been able to have a daughter using PGD, which eradicates ALD before implantation of foetus. Enjoy your daughter knowing there will be options for her when she’s old enough to want children x

[Shelcee in reply to Hillary]

I also am a carrier as was my brother who died ages 33, we used PGD to have our children. We had some male embryos that were not affected but unfortunately they didn’t go to term. We now have two healthy girls that are not carriers so your daughter will be able to eradicate this terrible disease via PGD.

[julie_]

in hindsight, I would say I had many one-off incidents that could not be explained away (why could I not walk fast as usual one day but resumed normal pace the next day, for example). I really did not have successive problems until I was in my late 40s. When they began, I was able to manage with PT, along with my workout routine. I'm now 54, so 7 years later, and my symptoms have gotten worse. I have pain everyday now and carry a folding stick. I don't use it everyday but I do "wall surf" hold handrails on stairs, etc.

I have an appointment at Kennedy Krieger next month.

[Klorda in reply to julie_]

How long did it take you to get an appointment with Kennedy Kreiger? I have AMN, age 57, and was diagnosed 2 years ago. We thought my father had MS all those years ago but it turned out to be this disease. I have neuropathy in my legs and balance issues. I work out every day and try to stay moving. I think that helps.

[julie_ in reply to Klorda]

Movement always helps! Do not stop! My physio said your body begins to forget how to do things we did naturally.

My appointment for March was made last September - 6 months out! I spoke with Conor Murray who handles intake at the last ALDConnect meeting. He said scheduling has been this way recently. This is my second visit. My first visit was 4 years ago and it only took 2 months!

If you or anyone else here would like an appointment at Kennedy Krieger, I suggest you contact them now!

[Klorda in reply to julie_]

Thank you. I have sent an email to Kennedy Kreiger and my older sister has an appointment there in October. I'm trying to go along with her if I can. Physically working out seems to be the only pain relief I can get. Drugs don't seem to work for me without feeling like a zombie. Luckily, I have a desk job and can do that for now.

[julie_ in reply to Klorda]

Wow, 7 months! Did you not want an appointment for yourself? I never liked taking drugs and baclofen and 4-AP are no exception. I have to remind myself to take them. Not that I don't need them, I just don't remember to take them.

I have a desk job and unfortunately I find no relief in sitting. I have a standing desk and I've been standing more so than sitting.

[AussieBob]

Visit this site as it is the best. adrenoleukodystrophy.info/c...

[COwithAMN Administrator AMN EASIER Volunteer in reply to AussieBob]

thanks Bob, hadn't heard of that. Also x-ald.nl from the same Stephan Kemp

[AussieBob in reply to COwithAMN]

You are very welcome

[SongStream]

Julie had posted a webinar from ALD Connect which has a lot of additional information and Q & A which will be helpful for all carriers: youtube.com/watch?time_cont...

[tieaknot]

I was mid 30s when the bladder issues really kicked up and then later 30s when my leg issues began. I had to double check the name on the post above from Cherie because initially I thought I wrote it! (Same early signs/first in family, etc).

[Hillary]

Hi, like most others I started with leg spasms, my legs giving way and bladder issues. As a 2nd time new mum of 35, I put it down to childbirth. Things got worse but was not diagnosed until my son presented with ALD 6 years later. My daughter is a carrier but has no symptoms, she is 35, she was able to have my granddaughter via PGD so eradicated ALD prior to implantation