ALD - CARRIER symptoms?

[tashhjw]

Hi,

My brother was diagnosed with ALD when he was 5 years old and passed away when he was 7 (2007).

Last year my mom and I got tested and we're both carriers. I will go and see a genetic counsellor when I plan to have children but would like some advice as to what others have discovered about having children as a carrier? What are the options?

Also, my mom has been experiencing back pain and knee pain as well as stiffness. She is convinced that those are symptoms of being a carrier. We unfortunately do not have very many doctors who are expertise in this field ( we're on South Africa). I feel that there should be medication or treatments for this type of thing but we don't know where to go. She's gone for X rays and so forth and they haven't found anything wrong with her knee and her back that would be giving these symptoms. She also gets pins and needles in her back.

Any advice or recommendations would be greatly appreciated.

[tieaknot]

I am so sorry to hear that you lost your brother. All these stories break my heart. I am newly diagnosed as a symptomatic carrier myself and don't have many answers for you, but just wanted to say that, yes, there are ways to test and prevent passing the gene down if you want to have kids and yes, as a carrier there can be symptoms (in my case back and leg pain, and strange feelings and numbness there too as well as bladder issues). My doctor told me that many carriers never have any symptoms at all. At this point, treatment consists of just treating symptoms but research is ongoing and hopefully soon they will have some new options. I am sure you will get many responses. I wish you well!

[tashhjw in reply to tieaknot]

Thanks so much for your response!

Sorry to hear about your carrier status. I hope that because I'm young I can prevent many of the symptoms but I'm not sure if it's even viable.

My biggest fear is giving this disease to my children and will definitely be seeing a genetic counsellor before I make any decisions for a family.

I also have bladder issues but never thought it was anything other than just a weak bladder. I know this may be personal but what bladder problems do you have? You don't have to disclose I am just shocked because I never knew it was related.

I wish you well as well.

[MWCarrier in reply to tashhjw]

Super sorry to hear about your brother as well! Also a carrier, and I have a son that’s 5 who also has my condition but we are currently monitoring him. As a carrier, I have every symptom in the book and forever thought it was normal postnatal bladder issues until my difficulty walking set in. Don’t hesitate to contact me, but I am also searching around for better treatment options for myself.

[Cherie]

I also belong to a website inspire.com/find-group/?fg_... . There are a couple of people who I chat to on there who are from South Africa and there may be others. I know they have been looking for answers . 'Gizmo' and 'Elachi'.

There are also discussions about having a family and PGD.

I had mri scans and x-rays on my back a number of years ago which showed nothing. I have lower back pain,numbness,stiffness and pins and needles in my arms as well as bladder problems.

I find it difficult to take medicines but some take Baclofen for the stiffness.

For help with exercise I use a Multiple Sclerosis centre.

[tashhjw in reply to Cherie]

Thank you for your reply. I have signed up to that website and will see chat to those on there.

Did you go to any specific type of doctor? Or did you just see a gp?

Have heard a lot about Baclofen just not sure who to get it from for my mom.

Thanks again!

[Cherie in reply to tashhjw]

I was recommended it by my specialist although I can get it on prescription from my GP. I am afraid it didn't agree with me but I know quite a few people who take it.

[tieaknot]

I am going to try Lyrica for the pain soon. I have been on pain meds due to my open heart surgery last month and as much as I hate them they are making me more comfortable all around so it will be tough to let them go. My bladder issues started as simple urgency... Gotta go gotta go! More recently, I will think I am "holding it" and then realize I have wet myself... So I have taken to wearing a pad if I am out and about as I don't get much warning. If I drink caffeine or alcohol is it a lot worse. My kids know to "get out of the way when Mom has to go!" Funny but sad. As I said I am so thankful out son is negative and I am praying that our daughter is not a carrier. I would have made some different choices if I knew about my status before having kids, but they were 4 and 7 this year when I was diagnosed. Best wishes to all if you! Hoping for something to come down the pipeline to prevent or cure this soon!

[mariagno in reply to tieaknot]

It is best to start with the smallest doses possible for all new meds to avoid unwanted side effects whenever possible.

I take Gabapentin (Neurontin) for the burning, pin pricks, feelings. Baclofen is an anti spasmodic for muscle spasms, Gabapentin is for the other. Start with a small dose and work your way up. I had problems when a very high dose was prescribed.

Both medications have been used for a long time and their use and side effects are generally well known. They also should be relatively cheap.

Bladder issues-I have the same symptom of everything being fine then being overwhelmed with the need to go. There are lots of medication for overactive bladders. If one does not work try another. If they have you on a diuretic (water pill) that will work against you regarding your bladder. See if the dose can be stepped down

As for your mother Gabapentin and Baclofen may also help.

Any doctor who treats Multiple Sclerosis can treat the symptoms of AMN/ALD.

I am very sorry for your families troubles and I wish you nothing but the best.