New to Friedreich's Ataxia

[crackerwest]

I'm new here..my nearly 13 yo son has just been diagnosed with FA. He was diagnosed as dyspraxic 5 years ago but became increasingly ataxic past 18 months and developed severe scoliosis for which he is waiting for an op date at Alderhey. The neurologist told me the FA diagnosis over the phone so we haven't told our son yet as I am fearful of the effects of 'google'. I spend a lot of time crying as its not what anyone wants for their child. There is research that looks promising and new clinical trials so trying to be optimistic as well as realistic - but how to tell my son ?

[KIrvine2017]

Crackerwear, I am so sorry for everything you are going through. My daughter has a different form of ataxia caused by a brain injury over two years ago when she was 6. I can't advise on how or what to say to your son, but I will also be interested in any replies you receive as I have the same worry about what to say if my daughter remains ataxic for life, although I appreciate the gravity does not equate with the message you need to deliver. I hope that your son will find some positivity from having a diagnosis - not knowing or understanding what is causing such debilitating symptoms can be very hard mentally. Wishing you all strength and positivity and of course hoping that science continues to find answers to cure and heal those affected by Ataxia.

[crackerwest in reply to KIrvine2017]

Thank you so much for your reply. I am hoping as you say that science can wave its magic wand and reverse the damage. There does seem to be some hopeful looking trials, but I do know I need to be realistic.

[Jenandbeth]

I think you could get advice through genetic counselling service as I've been researching what they can offer us recently. They may actually be in the position to do this with you and your child. There will probably be a waiting list so you may need to be prepared for that. I guess the same applies that would apply for telling children any difficult information, if they ask the question they are old enough for some kind of answer but the answer should be appropriate to their age and stage and ability to deal emotionally with the info. Giving a fact in response to any questions satisfies the child that you have listened and told them the truth, and can retain the trust whilst you wait for genetic counselling, but you don't have to give them all the facts or a label. If your son does Google inbetween time then cross that bridge as you come to it and try and stay calm so they feel able to cope ( this doesnt mean you can't cry, in my experience children can accept the expression of honest sadness as long as they see the parent employ coping strategies to deal with the sadness that they can learn from). If the googling happens tell your child that you have made a genetic counselling referral and that they can ask any question then as the geneticist is the person to know what is realistic more than you or the internet. I hope this helps. I am a mum of a daughter who is currently undergoing ataxia diagnosis and an ASN teacher who has supported lots of parents and children through a variety of diagnosis. Which doesn't mean I know it all, I don't, but this is my experience to date. Thinking of you very muchx

[crackerwest in reply to Jenandbeth]

Thank you for your reply. We are seeing a genetic counsellor, but not until later in the year. I asked my GP to refer us to the London ataxia centre as well today, but as you say everything takes time. It’s all a very steep learning curve, and a rather lonely one at present. X

[scamper]

Hi Crackerwest I have a 22 year old with FA diagnosed at 15 .We so weren’t looking for any answers so it came out of the blue .I remember vividly the shock and pain of those early months .We didn’t have this dilemma as my daughter was with us ( we were handed a leaflet !)but I do know we now have many friends in the FA world some told their kids straight away and some kept it hidden for some time to coincide with life events - exams/prom etc etc and in some cases this caused problems in the parent/child relationship.But you know him best so whatever you decide will be right for him .

This generation spend more time with technology than they do with people so I think the chances of him looking for answers particularly as he progresses is fairly high .

I can tell you I will never be “ok” with my daughter having FA but it doesn’t define us we have a great life and have made some amazing friends and I’m sure you will too .

Always here if you need anything x

[crackerwest in reply to scamper]

Thank you - it’s good to know we are not alone. Life will be different for all of us as a family now but we will do our best to muddle through. We told him yesterday, as circumstances dictated he needed more answers, so we will see how he absorbs the news, and just hope he comes to us, but as you say I’m sure there will be elements of google.

Best wishes

[bakethat]

Hi, I know exactly what you’re going through, both my sons have FA, they are now 26 and 30. My eldest son was diagnosed at 9 and back then we called it his ‘wobbly problem ‘. We didn’t have Google so much back then but I still worried what he would find out. We answered the questions he asked and because the Doctors and other professionals just talked about the current situation at the time he wasn’t too concerned about future problems. You have to remember that no 2 cases are the same, not everyone progresses at the same rate either. Research for a cure is better than ever and we have to be hopeful for that.

My advise is just take one day at a time, especially as he has the back operation coming up too. Take care, you will be stronger than you think you can be, and we are here for you if you need us. xx

[crackerwest in reply to bakethat]

Thank you for your comment. It’s good to know we are not alone. I too think that there is some encouraging research out there and science and technology has advanced so much - let’s hope that it can do something amazing for our children in the future.

Best wishes x

[RCBrownMBE]

Hi, my name is Richard Brown and I was diagnosed with FA in 1992. ataxiaUK can really help here. Go to their website for information. Their conference in October has a workshop for newly diagnosed people and their families and carers and a fringe group for young people with ataxia. As it has already been said in the comments, everybody’s approach is different, But you are not alone. If I can help by either talking to yourselves or your son (he may not feel ready for this) then please email me at [e-mail]

[crackerwest in reply to RCBrownMBE]

Thank you Richard for your message. We told our son yesterday- he’d had a fall at school and didn’t understand why his legs wouldn’t work, so it felt right to explain things to him then. He seemed to take it on board, but I’m sure the questions will follow - not that we have the answers either. I will give the ataxia uk helpline a call and I’ve asked for a referral to the London ataxia centre as well. Thank you

[avalentine1947]

I am so sorry for your son's diagnosis.

My daughter was diagnosed with FA at 7 years old. She didn't walk until 3 and then she would lose her balance a lot. They hadn't found the Gene yet this was in 1980.

So I know your pain and frustration.

It is hard as a parent to watch your child degenerate before your eyes. She too had severe scoliosis. She wore a brace for a couple of years but she eventually had scoliosis surgery and had 2 rods attached to her spine around 13 yrs old. That was difficult to.

She slowly lost ability to feed herself and her speech became slurred. She got diabetis too and congestive heart failure around 21. My husband divorced me when she was 18....graduating from high school. She did go to UH for 2 years and lived on campus. They had attendants to help the disabled people. It wasn't idyllic and I had to run up there a lot when there were accidents.

However she got married and that lasted about 1 1/2 years. Her husband who also had another form of muscular dystrophy was abusive. They divorced. She lived with me for a year. Home health care was terrible. So I put her in a nursing home at 24. She hated me for that but I couldn't care for her working full time retail.

She was there for 5 years. She met a wonderful young man who loved her and came to the nursing home every day. Took her home on the weekends where he lived with his father in a trailer. They were common law married.

They were very happy.

She passed away at 29....her heart gave out.

I tell you all this to tell you that she had a life...she didnt just sit in a bed all day. We took trips and went fun places together as a family.

The schools worked with us to help her. She tape recorded. Her classes, later had an aid take notes for her.

She received a lot of help from The Muscular dystrophy foundation. They bought her first wheel chair.

Paid for physical therapy. When she was older bought her her electric wheelchair that cost over ,$20,000.00.

She went to MDA camp every summer and had a blast.

Maybe you can wait to tell your son until he asks.

My prayers for you and your son and your family.

Wir love and compassion,

Sharon Farmer. I live in Houston Texas.

[crackerwest]

I am so sorry to hear you lost your daughter. It is every parents worst nightmare and one that is very real with this diagnosis. But as you say, life can be enjoyed and lived as well with this diagnosis and that is something I very much want to focus on. Best wishes x

[medea]

Hi, I have FA - I'm 59. I just want to point out that there is a wide diversity in the severity of symptoms and also the existence of symptoms - for example heart problems are not inevitable. There is also diversity in the rate of progression. FA is individual - don't rely too much on what you read.

[crackerwest]

Thank you - it’s very easy to focus on the worst case scenario. Waiting for a cardiologist appointment at the moment so that will give us more information.

Best wishes