Friedreich ataxia ??

[LadyntheTramp]

I was wondering if anyone has or knows anyone with Friedreich's ataxia. My boyfriends nephew was recently diagnosis with this. It has been hard on his family and him. It is this new world of unknown. I live away, so I can only be as upto date as my boyfriend keeps me (which is usually really uptodate). I am going home this weekend to see them and I am kinda worried about it. I know boyfriends nephew wants to look into fundraising. Basically, I am asking just if anyone can give me a view into what is ahead. I am a scientist so not only do I read the stuff in laymans terms but I understand that science. The websites just make me upset and I don't really have anywhere to turn, since I am not the parent or even his aunt. (Although I do consider him my nephew and the family treats me like I am already married to my boyfriend.) I just feel kinda lost since I am so far way. Can any one give me some advice or guidance?

I am sorry is this sounds so wordy or doesn't make sense...

 

[mechurchlady]

There is genetic testing available and should be done on the nephew's close relatives including your boyfriend. If you planned to have children with your boyfriend then both of you should be tested for Friedreich ataxia. What you can do is have knowledge on hand if the family wants the information and be a loving supportive friend for your boyfriend.

You made perfect sense to my and I understand your post and send you a hug. I like wordy posts that give me a clear picture of the situation.

 

[aPiratesLife4Me]

I don't know a lot about it, other than what I have read on the MDA site. (I have a form of muscular dysthrophy) the site was a big help to me during the stage before, during and after I was finally diagnosed..the chats were a big help with people who are also going through or have been through the same thing. Anyway, I think the MDA site would be a good start, and if they have found an MDA "clinic" near them hopefully they can get a lot of good information there. The site lists many resources as well, so I hope it helps you, even if just a little. I'm sure the webites and info. is all overwhelming right now, hang in there. Sending thoughts and prayers for your boyfriend's nephew.

http://www.mdausa.org/disease/fa.html

 

[dclfun]

I agree that your nephew and his family will get lots of support from MDA. They have clinics and social workers that will help him when he needs equipment ,and support groups, etc. There are lots of people with this disorder who work and support themselves including one of the editors of "Quest" the MDA magazine. You can find Quest magazine online, I think via the MDA site that was sent above. There you can search for articles on FA and can see current research being done by MDA.---Kathy

 

[WheeledTraveler]

One of my friends had FA. (She died last summer) It's rough condition as it's still very hard to treat, but they really are making advances in the research about it. My friend was 22, but I know of people in their 40s or older with FA. I'm not sure if there's any good way for them to predict exactly how it will effect any one person.

A place to look along with the MDA website is the Friedreich's Ataxia Research Alliance website (my post count is too low to link directly, but they're easily googlable) which has some good information and profiles of different families as well as support for families dealing with FA.

 

[eternaldisneyfan]

The severity really depends on when they were diagnosed. Like if he started having symptoms as a teenager it won't be as bad as if he started symptoms as a toddler. That said progression varies by person. Three people in my family have Muscular Dystrophy (not Friedrechs). I am the most severe using an electric wheelchair, gj tube feeds, tracheostomy, and vent. My mom is the mildest-she can still walk short distances in the house.

From what I understand Friedrechs is actually a milder MD with many people walking some distance or at least transferring independently into their 20s/30s. There was just an article in Quest about a lady with Friedrechs Ataxia that is married and adopted a child. Sometimes it can affect speech which is hard.

A can do attitude with regular expectations within abilities goes a long way in growing up healthy. My mom was always very honest with me at an age appropriate level so I knew what to expect. You can't really trust life expectancy-it is so individualized these days depending a lot on how much intervention you choose ie do I want that feeding tube/trach. I know some guys with DMD-40,39, & 36. You can't count on statistics.

MDA is a great resource.

 

[LadyntheTramp]

I just wanted to post a quick update. I started this thread probably about a month ago when I found out my boyfriend's nephew was diagnosis with FA. I want to thank all who respond.

I did want to say that since the time of the intial diagnosis everything has seemed to settle down. My boyfriend's nephew is a very caring person and has decided that he wants to do a fundraiser for FA research, so the whole family is starting to plan that. His appointments have been going well and everyone seems to be adjusting well.

I just wanted to let people know this incase anyone who posted was wondering.

Thanks again for your response.