Friedreich Ataxia

Question: Can people with Friedreich Ataxia get pregnant? Is it possible for a 20 year old female, who is suffering from the effects of Friedreich Axtaxia quite severely, able to become pregnant?

Answer: Yes, I saw some program on Discovery Health like 5-6 years ago and the mother had the disease and she had 3 or 4 children. There is a possibility of your children being born with it too though. It is an Autosomal recessive disease, meaning both parents must be carriers. There's a 50% chance of the kids being carriers, 25% chance of actually having it and 25% chance of them being unaffected, but chances that they will have it will be higher if the mother has it.

Question: How do people live when they have Friedreich's ataxia? I'm doing a school project on a genetically inherited disease called Friedreich's ataxia and i need more information. But i really need is a scientific journal on it from someone... anyone... so please help me.

Answer: Hi, My name is Michel Beaudet, I'm 47, have FA and live in Quebec, Canada. I'm sending this message to invite people to join a list for those with ataxia. The list is called Internaf and there's also a website full of info at http://internaf.org International Network of Ataxia Friends is a mailing list for ataxia patients and family which serves as a support group and information exchange vehicle. There are currently over 680 subscribers from more than 40 countries worldwide. Subscriptions to INTERNAF is free. For info on how to subscribe, go see, http://internaf.org/network/services.htm… or for email only access click here and send: internaf-subscribe@yahoogroups.com or for full yahoogroups features access go to http://groups.yahoo.com/group/internaf/j… Bye ps: Don't hesitate to email me if you have questions about internaf -- Michel Beaudet michel.beaudet@videotron.ca Internaf - INTERnational Network of Ataxia Friends http://pages.infinit.net/macmike http://groups.yahoo.com/group/internaf http://www.internaf.org

Question: Iron Chelators that are legal to obtain in other countries have shown success in treating Friedreich's Ataxia does anybody outside the US have access to ferriprox or Deferriprone or know if it is available for prescriptions. i live in Atlanta, GA and I would like to travel some where to obtain the medicine instead of waiting the year or two it may take to pass FDA guidelines here in the USA. Georgia allows one to travel outside US and obtain medicine via prescription and bring it back but i have no idea how to go about doing this. Any clues? or has anybody else ever done this?

Answer: You should probably start by contacting Dr Des Richardson at: Iron Metabolism and Chelation Program, Children's Cancer Institute Australia for Medical Research, Randwick, Sydney, New South Wales, Australia. He has published the most on this topic and could probably guide you. If your physician in Atlanta is cooperative, you could probably arrange to have the medication shipped directly to him under a compassionate use program. Also, you should check with the NIH to see if any US sites are investigating such products. One correction: The drugs are not "legal to obtain" per se -- they are investigational prescription meds. This is the same status they would have in the USA. Good luck.

Question: Friedreich's Ataxia...information? Hey, so i have to play someone with Friedreich's Ataxia disease in Drama. I have read up about it, but i would really appreciate some ideas or tips on how i could develop my character or how i should move/speak. any advise is welcome :) thanks so much! xxx

Answer: This video features young people with Friedreich ataxia: http://video.google.com/googleplayer.swf… An alteration of FXN gene alters pre-mRNA processing leading to decreased protein levels - thus these people have perfectly normal brain but not enough energy to normally walk and talk. Curved spine, heart problems... very sad

Question: what are the financial, emotional and social effects of friedreich's ataxia?

Answer: financial: life long illness requiring supportive care so ongoing costs emotional: requires ongoing support social: depending significantly on the severity of the illness try to read it on www.mayoclinic.com or familydoctor.org, good luck

Question: Has anyone ever even heard of Friedreich's ataxia? It's a neuromuscular disease that takes out the fretaxin in the mitochondria of a cell and it weakens the muscles. It causes severe scoliosis, deafness, impaired vision, disables walking, slurred speech, and hypertrophic cardiomyopathy ( when the left ventricleis weakend so it dosn't push all the blood out of the chamberso it causes the heart to stretch, enlarge, and eventually kill them). Sometimes the arches on their feetbecome so high they have to have surgery to cut the tendon in the foot and disable their walking abilities even more. Soon, they won't be able to feed themselves. The usual death time is at age 35. So next time you plan on spending your valuable money on those really expensive $500 shoes, make a donation to fara, or go online to http://www.fortnet.org/fapg/ fo more info. Because this rare and lethal disease iskilling those some 5,000 lives in america. So make a day, cure FA.=] And I mean not physians and doctors... sorry I can't spell

Answer: Nope

Question: Does anybody else have Friedreich's Ataxia? and if so, have you found anything or anyone that can help?

Answer: I don't have the condition, but below are some links to organizations and information that may help- The National Ataxia Foundation- http://www.ataxia.org/ The NIH Friedreich's Ataxia Fact Sheet http://www.ninds.nih.gov/disorders/fried… The A-T Children's Project http://www.atcp.org/

Question: I was 36 and they told i had friedreich'sa ataxia. But they said i would live long,. And in 93 i had diabeties

Answer: Did you just have diabetes (proper spelling) just in 93? And what is the question? I think a bit more information is needed to make any kind of factual statement concerning your questions (?).

Question: anyone have friedreich's ataxia? it's a progressive neuro-degenerative disease... often compared to muscular dystrophy. I personally have it and I wanted to know who else has it... I guess I have a question: I just started using a scooter in high school. I don't have many symptoms and I can walk, but I just get so tired by the end of the day. Does anyone have any advice on transitioning? Thanks for your time:)

Answer: My mother has "Charcot-Marie-Tooth" which is very similar to Friedreich's ataxia. She thought she was going to die in her fifties, but she has made it to eighty-seven. She first noticed it when she was in high school with weak ankles that made it difficult for her to play tennis which she loved. However, she got a sedentary job and didn't notice it too much, except for the clumsiness. Finally, in her thirties, she finally decided there was something really wrong with her. The doctors told her it would be detrimental for her to exercise. It would make her muscles deteriorate faster. So. The only advice I would give would be to start using your electric scooter more, and limit your walking right now.

Question: What is the difference between an effect and a symptom? Isn't that basically the same thing? For a Biology project, I am researching Friedreich's Ataxia, and I have to write down the effects and the symptoms... and I can't tell apart which are symptoms and which are effects...

Answer: Hi Lola! An effect is what the disease does to the body. For example, an effect of asthma is to constrict bronchial tubes. Another word for effect is "pathogenesis" - you may want to try searching for that instead. A symptom is how the disease presents itself - for example, shortness of breath in asthma. So for Friedreich's, the ataxia is a symptom. The pathogenesis of the disease causes the ataxia, and all of the other symptoms. Good luck!