Hello, I am a mother of a child who was just diagnosised with EA2. I am looking for information, resources, support, etc. I am new to all of this and would love to learn how I can help my daughter. She is only 6 years old.
I look forward to hearing from you.
Good morning,
I'm sure that this diagnoses has been a shock, it will change you Daughters life along with that of your family forever. And in time I hope this can be turned into a positive.
My name is Tom, I was diagnosed with EA2 in 2007 and "retired" in 2008. It is hereditary in my family, my Mom has it. It is late onset for us - early 30's.
One of the major side effects of mine is nystagmus. Does your Daughter suffer from this? I would be very happy to chat and compare notes if you would like.
The best piece of advice and support I can give is to gain as much information as you can. Knowledge is power, and you have a little angel to look out for.
Take care,
Tom.
My son is 22 onths old and they still don't know what he has. They threw episodic ataxia and spinocelebellar ataxia out there, but we are meeting with a specialist next month to start the testing process. How did they come up with this diagnosis?
My son's symptoms started suddenly(7months ago) with tremors and developed into ataxia. He has never completely regained his balance, but can walk. The torture is not knowing what it is.
Hang in there! I'm here if you need to talk.
I am sorry that you also have to live with this 'disease'...not sure what you call it. I know little about it yet.
I would love to hear any and all feedback that you would be willing to share with me. It would help me immensily to hear an adult's perspective of what if feels like, what you do to help manage it, are you on medications, do you have a wheel chair, what has it been like for you, what progrnosis have your doctors given you, etc. I would so great appreciate hearing it ALL.
Tom Potter said:
Good morning,
I'm sure that this diagnoses has been a shock, it will change you Daughters life along with that of your family forever. And in time I hope this can be turned into a positive.
My name is Tom, I was diagnosed with EA2 in 2007 and "retired" in 2008. It is hereditary in my family, my Mom has it. It is late onset for us - early 30's.
One of the major side effects of mine is nystagmus. Does your Daughter suffer from this? I would be very happy to chat and compare notes if you would like.
The best piece of advice and support I can give is to gain as much information as you can. Knowledge is power, and you have a little angel to look out for.
Take care,
Tom.
It's been a journey, that't for sure!
For me it began with a trip to the Neurologist with my Mom in 2007. I was taking her there for a routine appointment and the doc asked me to do some coordination and balance tests....which I failed...lol. Who knew that I could not walk a straight line (heel to toe) to save my life?
Following that appointment my balance, coordination and vision issues kicked into high gear. I developed Nystagmus as a side effect of the Ataxia. Mine is an "up beat" Nystagmus which shakes everything up and down rapidly... In actual fact, it's my eyes that bounce. The world stays still :-). I see triple am nauseated and require a cane or wheel chair in extreme situations. (That is to say when I do NOT take my medication or am stressed or very tired).
Fatigue and stress are my primary triggers. As it is episodic I can never be sure when an attack will happen. It is vital for me to ensure I rest and have little stress. I also try to stay fit, I find that I am more mentally, emotionally and spiritually balanced when my body is in shape. Plus, it's a great way to blow off some frustration!
I'm blessed that I have a tremendous medical team here. I work with a Neurologist, Neuro-ophthalmologist and my family Physician,.
With trial and error we discovered a drug "3,4 Diaminopyridine" that treats the Nystagmus. So long as I take it I don't require a cane or Wheel chair. That said, there are days when I don't go out. I still battle with weakness, fatigue and in-coordination daily.
http://en.wikipedia.org/wiki/3,4-Diaminopyridine
There is no cure, simply a band aide. But I'm happy to use this band aide and have accepted my "new normal".
It took time to accept, I just "celebrated" my 5th year in retirement. It was bitter sweet as I'm 37...However, (and I don't mean this in a trite or insensitive way) I have learned to stop asking "why" and start asking "what". What am I to learn from this, and not "why me". In reality, "why NOT me"? This journey that we are all on must have a purpose, and mine although, not the way I planned it has turned out very full and rewarding.
I hope that this has been helpful? I'm happy to continue to chat.
Tom.
Hi, welcome to the group. I have EA2 I am 43 had it since I was a child. This has been a long journey but your daughter is lucky because she has an early diagnosis and she has supportive family 
on Facebook,there is a very active support group of people with EA2 and there are quite a few on there who have children. The important thing to remember is that this disease is different for everyone, we all have different progressions, severity etc. the group on FB is closed but you can be added if you want it is a great place to vent, get angry,celebrate small milestones and gain information.
Take care
Louise
Ps feel free to email me if you have any questions
Hi Mom-of Ataxic and welcome, Although I don't have EA2, I was diagnosed 10 years ago with Sporadic Cerebellar Ataxia (unknown cause). I have my ataxia symptoms 24/7. Just wanted to welcome you and say (as you can see already), there are many people on this site that can help/explain EA2, as they're dealing with it. I'm certain you are very concerned about your child! I'm a mom (my children are grown) so we do have that in common. Knowledge is power! Learn all you can about EA2, and what you can do to help you precious child. My best wishes...,;o)
I spoke to Diane Hutter at the National Ataxia Foundation conference in Detriot 2013
A young member of Ataxia South Wales has EA2
At the UK conferences I have met a few people with EA2
Alan
385-NAFsAOA2flyer2013174.jpg (1.14 MB)They came up with this diagnosis after years of trying to find out what was going on with my daughter...these episodes she has, irretractable seizures, muscle atrophy, balance, etc. We are still awaiting the genetic test results. She has seen MANY doctors/specialists through out her life. It has been a long, confusing journey. I pray you get some answers for your son.
Jabooshi said:
My son is 22 onths old and they still don't know what he has. They threw episodic ataxia and spinocelebellar ataxia out there, but we are meeting with a specialist next month to start the testing process. How did they come up with this diagnosis?
My son's symptoms started suddenly(7months ago) with tremors and developed into ataxia. He has never completely regained his balance, but can walk. The torture is not knowing what it is.
Hang in there! I'm here if you need to talk.
Tom, when you say that it will change my daughter's life and ours, what do you mean? Do you mind sharing more about that?
Also, any suggestions on what to tell my other children? Neighbors? Friends, etc?
I like to hear the adult perspective on what it feels like, how you have had to 'accommodate' life so you can be comfortable/successful.
Tom Potter said:
Good morning,
I'm sure that this diagnoses has been a shock, it will change you Daughters life along with that of your family forever. And in time I hope this can be turned into a positive.
My name is Tom, I was diagnosed with EA2 in 2007 and "retired" in 2008. It is hereditary in my family, my Mom has it. It is late onset for us - early 30's.
One of the major side effects of mine is nystagmus. Does your Daughter suffer from this? I would be very happy to chat and compare notes if you would like.
The best piece of advice and support I can give is to gain as much information as you can. Knowledge is power, and you have a little angel to look out for.
Take care,
Tom.
I commented already, but for what it's worth, I'll comment again...ha! Everyone is different in how their ataxia progresses, depending on the type they have and when it showed up. As I mentioned before, I don't have EA2, although ataxia ''symptoms" can be the same, although there are different types/degrees of ataxia. Some forms are hereditary, some are not. Some people start showing symptoms of ataxia as young children (your daughter) some are late onset (me, as it started in my 40's and I was 49 when diagnosed) I live in the US and a good site for information etc., is the National Ataxia Foundation (NAF). The UK Ataxia site is good also. I was diagnosed 10 years ago with Sporadic Cerebellar Ataxia (unknown cause) as no one in my family as far back as we know has this, except me. I started using a cane when I leave my home to prevent falling, although I'm able to walk,carefully, in my home without it. Some people with ataxia use walkers, wheelchairs, scooters etc. I find that exercise for strength and balance, as well as eating as healthy as possible helps my ataxia. I went to physical therapy for a while also. I do not take any medication for it, although I do have Baclofen, which my neurologist prescribed for muscle tightness. I find stretching my muscles helps with this so far. Hope this bit of info is helpful to you..., ;o)
Ataxia UK is the proper name of the site (NOT UK Ataxia)...,so sorry! ;o)
Hi, sorry about the delayed response! My life changed as I could no longer work and started experiencing balance, coordination, vision and at times cognitive delays.
Until my medical team discovered my meds I was walking with a cane and at times using a wheelchair.
I think that the best advise I could offer at this time is to stay positive, read as much as you can and seek support as you are. There are many terrific people on here as well as other sites. I would also recommend meeting with a family counselor to begin to work through the range of feelings and emotions you folks must be going through.
I have three sons, and am at a loss for what I would tell them if they were diagnosed. The only thing I would continue to do is love them through it and be realistic. Life is never perfect, it is however during the difficulties that people shine. My bet is that your daughter will be an example of strength and perseverance for you and your family
I wish I had an answer on what to tell your other children and family. I unfortunately don’t. I do however have hope. And that’s what I would focus on.
At this point it may be too early to start telling people very much. Has your daughter had genetic testing done to determine the exact Ataxia?
Talk soon, take care!
My son also has EA2 and at this stage he is pretty mild and it doesn’t appear to have progressed. He isn’t formally diagnosed as there’s no point, I have and know what the symptoms are … In our house we are pretty matter of fact about it and I didn’t let the kids see the ‘poor me’ days so although Ben knows he has and sometimes asks questions about it, he is at university doing his second degree. I am a teacher still working full time and although the fatigue is hard, I refuse to let it beat me at the moment. Although mine has progressed it still isn’t bad enough for a wheelchair. I guess I’m telling you this because I’m one of the lucky ones and everyone progresses differently or not at all and symptoms are different. I struggle with horizontal gaze induced nystagmus too which affects my driving and I need special glasses with prisms when driving. I have also had a tumor removed from my cerebellum which I have been told is completely unrelated but was only picked up because I had an MRI for ataxia - so that was a blessing!! Mine and many others testing has come back negative so don’t hold out hope for the testing … Mine is a clinical diagnosis based on symptoms and the fact that medication for EA2 had a dramatically positive effect.
Hi, I also have ea2. I have had it since I was 10. I wasn't diagnosed with it until I was 40. I am now 54. No one knew what I had. I was diagnosed from everything from hypoglycemia to being on drugs. You are fortunate she was diagnosed so young. I was able to work until I was in my 40s, then had to get on disability, as it did progressed with me. I am seeing a neurologist and taking acetazolomide which only seems to help a little. Stay supported for your child and let others know what she has if she goes into an episode. It could be embarrassing for her, and may not want to socialize as much. Everyone is different, just let her no she is not alone with ea2. Hopefully they will find a better way to deal with it. If you need to talk about anything please dont hesitate to let me know.
Thank you all so much for taking the time to share your thoughts. Just knowing that we are not in this alone, is a big relief.
Looks like are on this journey together. I feel frightened, no doubt, but I also feel ready to 'fight' this disease, and to find ways to bring comfort and healing to everyone affected by this sort of diagnosis. I pray that, together, we can share what we learn.
Hi
Im 44 male with episodic ataxia type 2 and my daughter aged 11 has same condition
I to have found finding out the facts about this condition difficult so that's why I joined this site
:)
Would you mind sharing what it has been like for you to have EA2? What about what you see in your daughter? It would help me immensely to hear your perspective. My daughter is so young and is only now beginning to verbalize what it feels like for her. So far, it has mostly been my interpretation of what I THINK she is feeling. Have you made any specific adaptions to your daily living that make it easier for you to remain engaged in the environment?
HI,
Yes unless you have the same condition it will always be hard to explain to people or understand the condition but When I've been bad it just feels like being drunk as I cannot walk in a straight line or I can be fine 1 minute then suddenly feel the need to sleep, but my daughter has it far worse than me and is ill probably almost every week and she cant open her eyes or even walk ( Makes me feel so guilty for passing this condition on to her).I only found out what I had after my daughter had a genetic test as she was ill from age1( it took them about 8 years to find out what it was) .Id been ill for a few years and was showing similar symptoms so I had genetic test as well. Maybe 1 day they will find a cure. we can but hope :)
Do you take any medications that seem to help?
What does your daughter do about school when/if she is having an attack?
Once an episode begins, can you stop it?
RH said:
HI,
Yes unless you have the same condition it will always be hard to explain to people or understand the condition but When I've been bad it just feels like being drunk as I cannot walk in a straight line or I can be fine 1 minute then suddenly feel the need to sleep, but my daughter has it far worse than me and is ill probably almost every week and she cant open her eyes or even walk ( Makes me feel so guilty for passing this condition on to her).I only found out what I had after my daughter had a genetic test as she was ill from age1( it took them about 8 years to find out what it was) .Id been ill for a few years and was showing similar symptoms so I had genetic test as well. Maybe 1 day they will find a cure. we can but hope :)
