friedricks ataxia

[simon111]

my son 12 ,has just been diagnosed with friedricks ataxia ,i am in shock and I am wondering does anyone have any information on any research being done

[Nigel-2112]

have a look at ataxia.org.uk under research, these are the ones about friedricks ataxia (which I have)

Dr Mark Pook's talk on current drug treatments in Friedreich's ataxia.

Dr Manolis Fanto's talk on Animal Models of Friedreich's ataxia.

[annasgonesailing]

Try curefa.org/pipeline which is quite a good visual representation of research worldwide.

I think I have met you if not I know a family in Hampshire in quite a similar situation to you.

Anna

[ljp103]

Hi,

I am 25 years old and four years ago got diagnosed with an inherited form of cerebella ataxia. My dad and Aunt have it and have researched into it and there is a charity for ataxia and have created a group called "2020 vision"- you tube it - and they hope to find a cure by 2020. I feel so much for your son but let him know he's not alone and research for a cure is under way.

[HarryB Administrator]

Hi Simon

I am so sorry to hear about your son.

Ataxia UK have produced a leaflet 'Ataxia:a paren't guide' which is aimed at parents and carers of children with ataxia. You can find this by going to the Ataxia UK website (ataxia.org.uk), clicking on the 'Ataxia' menu at the top of the homepage > Living with Ataxia > clicking on link to pdf of 'Ataxia:a parent's guide'.

In addition Ataxia UK also have a closed page on Facebook specifically for parents of children with ataxia. You can be joined up to this by contacting the Ataxia UK office (details at the end of the above leaflet).

Best wishes

Harriet

[castle0365]

I'm sorry about your son's diagnosis. It is a massive shock when you first get the diagnosis but it will get easier to handle. My son was diagnosed with fa 3 years ago when he was 5 but I can clearly remember those dark days post diagnosis. Talking will really help - whether to a partner, family, friends or at counselling (which was a godsend for me and my husband). Feel free to message me if you want to. I found that whilst talking doesn't change your situation it will make it easier to cope. I also needed to read all I could about fa. I had to keep reminding myself that the information gives all possible symptoms - but there is a range from the mild to the severe - so I have chosen to assume that my son will be at the mild end of the range until things prove otherwise! The research for treatment for fa is very encouraging and in my opinion having hope would not be misguided. At the moment I give my son a multivitamin each day and also (with the ok of his neurologist) coenzyme Q10. My son has definitely got more unsteady on his feet over the past year so I don't know whether the Q10 has been ineffective or whether it has helped to slow down the deterioration. I am happy that it doesn't harm him so we'll continue because we feel that we are doing something...definitely talk to your son's consultant about anything like this for their opinion and correct dosage. Take good care of yourself and your family.

[Holmej4]

Hi, my daughter has just been diagnosed with the same condition FA and I'm absolutely devastated. This has been a huge shock. I'm sorry your also going through the same thing. How are you coping with this now? I'm struggling to take it all in.

[simon111 in reply to Holmej4]

Hi I'm so sorry to hear of your bad news Wesley was diagnosed in July and truthfully I'm still in shock .We still haven't been seen by neurologist 1st appointment on 4th Feb .I am irish but live in uk a number of months ago I heard of a herbalist who treated a friend of my brother for motor neurone .With very good improvement .I went to Ireland to meet with him and he has been treating Wesley with herbal products,Wesley also has cardiomyathy due to fa,he has got stronger put on some weight as he was quiet petite his hand used to be shaky when writing but now it's steady. He has improved overall and if u require details of herbalist I will give them to you.I can assure you he's not a quack and has done detailed report of all herbs used for Wesley s doctors

I know how devastated you are and I'm so sorry for you ,this is a definite path you should take for your daughter. You can actually contact him by phone for initial consultation and can have herbs posted to you its not a miracle cure but hopefully will maintain

Condition

[Holmej4 in reply to simon111]

Hi, thank you for taking the time to reply. I'm glad your seeing some improvement, that's got to be a good sign. I would be interested in reviewing anything that may help slow down progression. My daughter was diagnosed with scoliosis about a year and a half ago, and since then her balance has gone pretty bad. We went to sign consent for spinal op which she is due to have next week, but raised our concerns over her balance and she was referred urgently to the neurologist at Alder Hey who has really pushed for all tests as quickly as possible. We got the news on Friday and I have done nothing but cry since and can't get my head around this and how much this will change her life. It is FA that has caused her scoliosis and she also has sensory nerve damage in her hands and feet. Apart from the balance she is living a normal life but I'm terrified this will change soon if progression is quick. I feel so helpless.

[simon111 in reply to Holmej4]

My heart cries for you as I know exactly how you are feeling how old is your daughter.My son has slight scoliosis I had him diagnosed with that 2 year's ago his balance was diagnosed as dyapraxia and I was given all clear on his heart 3 years ago I was in holiday in Ireland in June when I went to local hospital as he was tired easy and complaining of palpation s and chest pain.He was admitted and transferred to children's hospital in Dublin where they pieced everything together and came up with

Fa.devasting!!

The herbalist you can access through Facebook

THEHERBALISTSAPOTHACORY I will message you shortly with his phone number

His name is steffan jorgensen. Please give him a try as we have got some definite improvement with Wesley and thank God no detioriation

[Holmej4 in reply to simon111]

Thanks so much for that I will definitely call and look into this as anything that slows this down I'm willing to try.

My daughter is 14 at present and scoliosis and balance issues seemed to start around two years ago.

Did your son have a genetic blood test to confirm FA? As that's what my daughter had to confirm diagnosis. She also had a heart scan recently and all confirmed ok, so I'm praying it stays that way.

Has your son had any other symptoms? It's hard as the Internet says everyone is different but there isn't really much on how many people get each symptom and the time frames for this. So hard to understand how this will impact them.

[simon111 in reply to Holmej4]

Yes Wesley was confirmed by blood test ,thank God your daughter s heart scan is clear,Wesley has a heart condition due to fa and is on beta blockers.He first showed symptoms of balance problems at 8 years he was diagnosed with dyapraxia as I wrote earlier he's had the heart ,balance and scoliosis problems since 7 8 yrs old and wasn't fitted together by his doctors until diagnosis in Ireland

This upset s me quite a lot as I was telling doctors of my concerns but wasn't given correct diagnosis There is a foundation in America that gives a lot of really useful information'

curefa.org

Don't read too much on Internet as obviously very upsetting

[Holmej4 in reply to simon111]

It must have been awful for you when your raising your concerns and they arnt doing much about it. I can't fault my daughters neurologist as he has done everything possible from day one to get every test to get a diagnosis. We where only referred to him about one week before Christmas from her spinal consultant at Alder Hey and he has pushed everything through, rang to get her booked into clinics which were full till March and even chased the blood tests for a quicker response. So I couldn't have asked for a better doctor to be fair. However I wasn't expecting this outcome I thought it was all related to her scoliosis! I did start reading a lot but found it did upset me, but I think talking to you and other people on here has been really helpful to understand how other people are coping and dealing with this. I will take a look at the site you mentioned, thank you it's been really good of you. Let's pray we get a cure soon for our children so they can enjoy there future xx

[simon111 in reply to Holmej4]

Here is the phone number of steffan

00353876645802

Please keep in touch

God bless

[emmanik]

Hello everyone, My 10 year old daughter was diagnosed very recently. We thought she was a bit dyspraxic so it's been a massive shock. We had to wait 5 months for confirmation and during that time, everything else was ruled out and we were left with the one thing, for which she has every symptom; FA.

By the time it was confirmed she was already classed as disabled and me as her carer and we had already been visited by an OT to see what help we need in home adaptations. We'd gone so far down that path that the diagnosis was expected and we didn't cry.

It's hard to accept that this is our life now. We are trying to make life fun but it's the last thing we feel like being.

All she knows is that she has Ataxia. I don't want her or her friends googling all that scary stuff so we are being deliberately vague. One day she's going to ask though...

[simon111 in reply to emmanik]

Hi emmanik

I'm so sorry ,and it will take you a long time to come to terms with but since my son was diagnosed last year, there has been some advances in possible treatment.

I will post some links tomorrow for you

Simon

[emmanik in reply to simon111]

Thanks Simon. Don't worry, my husband lives and breathes FA research. I think it's his coping mechanism. We are talking to one of our Paediatricians about giving a large dose of B1 orally if he will monitor her with periodic blood tests to check that she's not being overdosed. We read that in trials, some people got their leg reflexes back. That's VERY interesting. B3 is also having success but I don't want to bombard the doctor. Some people swear by B5 too.

We have a wii as 'prescribed' by our fantastic physiotherapist and we work on the balance games which is physio disguised as game playing. I guess we need to keep them strong and keep their hearts healthy in hopes that a cure or treatment will come along.

We just found out that her heart is affected but the Dr said he's only seen one case where the heart was not involved at all.

[simon111 in reply to emmanik]

Hi emmanik

That's good your husband is so into research

I would appreciate if you would pass on any info youdiscover

Have you heard of interferon gamma a girl in Norway called Gunnhild lystad has a blog giving her experience with it

Fafysio.files.wordpress.

.com

[emmanik]

My husband says that's the trial they abandoned because it didn't deliver the results they hoped for.

But look at this...

friedreichsataxianews.com/2...

[emmanik]

This site is good. You can sign up for emails

friedreichsataxianews.com/

[emmanik]

And another...

curefa.org/scientific-news

[simon111]

Thank you these are so helpful