I'm new to this site, so forgive me if I'm doing this wrong. :)
My daughter is 8 and does not have a diagnosis yet. However, she has nearly all the signs of EA2, except the nystagmus (based on my non-medical Googling). I can't find anything online that describes the onset of the disorder and I was hoping someone here could help. We couldn't get in to neuro until Monday.
It started for her as a really bad headache that lasted for the evening (2/17). Since then, she had a constant mild headache that will not go away and does not interfere with her daily activities. About 10 days after the headaches started (2/26), she started experiencing the neurological symptoms (tremors in her arms, unable to stand or walk). The tremors stopped after about 3 hours and she was able to walk again after about 12 hours (2/27), but with abnormalities in her gait. She was fine for a few days, then on Monday (3/3), she had tremors in her right arm, Tuesday (3/4) it was tremors in both arms, Weds (3/5) it was tremors and ataxia, Thurs (3/6) she was fine, Friday (3/7) it was tremors and ataxia, and since then it's been mild tremors in her arms and slight balance problems when she walks. All the symptoms last week (3/3-3/7) lasted no more than 30-60 mins and stopped abruptly (symptoms started at school each time, so I don't know how they started).
The drs we have seen have talked about migraines and acute cerebellar ataxia, but none of them have seen her since right after the very first symptoms stopped (2/27). And I won't accept either of those diagnoses without checking others first.
Those of you have EA2, how did it start? At what age? Was the onset gradual or sudden?
She had both a CT and an MRI done, without contrast. She also had a lumbar puncture and EKG (she has a mild heart condition). Everything came back normal. Would all those things show up on the CT or MRI?
Hmm... a tumor, aneurysm, or avm should show up on CT, though occasionally those things may not be caught on the first reading. Let's see what happens with the neuro on Monday. I'm keeping my fingers crossed for you!
I'm sorry to hear about your little girl. I have been diagnosed with EA Type 2 and Familial Hemiplegic Migraine.
When I was under 10 I remember getting extreme motion sickness. I also used to say to my Father 'I feel dizzy in the head', I remember this as he would say 'well you wouldn't be dizzy in your big toe.' Symptoms were present then, but not what your daughter is experiencing.
When I reached my later 20's I can reflect and note that I was showing symptoms, balance being the most significant one, and any upset would be transient.So mine was gradual until it popped one day when I had a massive episode, which was twelve years ago and I haven't been the same since.
I thought that EA2 came on with significance at a later age. Your daughter seems to be particularly young, but she does seem to be showing signs of an ataxia, and one thing I do know is that there are many variations in experiences.
High stress, high emotions, heat, exerting yourself and the startle response, can all trigger an episode. One or more of these things could be happening at school. Eg, sport in the morning, or having a crabby teacher who is stressing her out.
You're going to need to go down the MRI and diagnosis track. It's frustrating I'm not going to lie. Ataxia's aren't a common disorder and gets missed often, a lot of people on here have stories about how many years it's taken them to get a diagnosis. So the fact this is being mentioned now is interesting and certainly needs to be followed up.
There is a very interesting connection between gluten and ataxia, I don't have it, but something to think about too.
Let us know how you travel with this, and I send blessings to your family. Lucy
Oh I just noticed the MRI and CT are clear, this means the brain itself looks good, and again I can see along with the symptoms they are looking at EA2. Does she get nystagmus in the eyes??
Lucy said:
Hi,
I'm sorry to hear about your little girl. I have been diagnosed with EA Type 2 and Familial Hemiplegic Migraine.
When I was under 10 I remember getting extreme motion sickness. I also used to say to my Father 'I feel dizzy in the head', I remember this as he would say 'well you wouldn't be dizzy in your big toe.' Symptoms were present then, but not what your daughter is experiencing.
When I reached my later 20's I can reflect and note that I was showing symptoms, balance being the most significant one, and any upset would be transient.So mine was gradual until it popped one day when I had a massive episode, which was twelve years ago and I haven't been the same since.
I thought that EA2 came on with significance at a later age. Your daughter seems to be particularly young, but she does seem to be showing signs of an ataxia, and one thing I do know is that there are many variations in experiences.
High stress, high emotions, heat, exerting yourself and the startle response, can all trigger an episode. One or more of these things could be happening at school. Eg, sport in the morning, or having a crabby teacher who is stressing her out.
You're going to need to go down the MRI and diagnosis track. It's frustrating I'm not going to lie. Ataxia's aren't a common disorder and gets missed often, a lot of people on here have stories about how many years it's taken them to get a diagnosis. So the fact this is being mentioned now is interesting and certainly needs to be followed up.
There is a very interesting connection between gluten and ataxia, I don't have it, but something to think about too.
Let us know how you travel with this, and I send blessings to your family. Lucy
My symptoms showed up when I was 9, and they came out of nowhere and was rather hard hittng. I had no headaches just vertigo and weakness. And, very uncoordinated. Lasted for what felt like hours, but I was 9 and everything lasted forever. ;-) the first episode happened while I was riding my bike, and, all of a sudden, the world started violently spinning, and I was unable to move without vomiting. After the spinning stopped I was too weak and Sicky feeling to do much of anything for a day or so. From that day on I had episodes like that frequently, 4-5 times a week sometimes two or three a day. I know this is hard, but I recommend that you stop doing the research until after you get a diagnosis at least. Soon everything will sound like what your girl has and it will scare the crap crackers out of you for no reason. Go to the neurologist, tell what you know, and keep moving forward. Stay calm, stay positive, and hug that little girl and tell her it's alright. The hardest thing about a disease that just pops up from nowhere is the fear of the unknown. Good luck!
Hi Jeff, Gawd was I uncoordinated too as a child. They put me in a special group of three kids in gym class because I couldn't do handstands, cartwheels and all of those important life skills you learn in gym!! How does the EA2 affect you? One of my main issue is that I can't lie down flat, within 10 minutes, I get really sick and my equalibrium has gone? Just interested as there are not too many of us EA2's around. Lucy
Jeff Perreault said:
My symptoms showed up when I was 9, and they came out of nowhere. I had no headaches just vertigo and weakness. And, very uncoordinated. Lasted for what felt like hours, but I was 9 and everything lasted forever. ;-) I know this is hard, but I recommend that you stop doing the research and until after you get a diagnosis at least. Soon everything will sound like what your girl has and it will scare the crap crackers out of you for no reason. Go to the neurologist and go from there. Stay calm, stay positive, and hug that little girl and tell her it's alright. The hardest thing about a disease that just pops up from nowhere is thge fear of vthe unknown.
Sent you a friend request. But, as to how EA2 affects me I have to say I feel rather lucky. Yes, I am always nauseous these days, I have left sided weakness, which makes me use a cane, nystagmus is permanent when I try to move my eyes to the extremes, and I don't feel things well. For instance, I don't feel the electricity when they do that stupid nerve test. Can't remember what it's called. :-) but, other than that it's not too bad. I always think of it like this, "If I had to get a genetic disease, then I'm glad it's only EA2." Oh, and have you tried scopolamine patches for the seasicky feeling? Helps me a lot on particularly bad days.
Lucy said:
Hi Jeff, Gawd was I uncoordinated too as a child. They put me in a special group of three kids in gym class because I couldn't do handstands, cartwheels and all of those important life skills you learn in gym!! How does the EA2 affect you? One of my main issue is that I can't lie down flat, within 10 minutes, I get really sick and my equalibrium has gone? Just interested as there are not too many of us EA2's around. Lucy
Jeff Perreault said:
My symptoms showed up when I was 9, and they came out of nowhere. I had no headaches just vertigo and weakness. And, very uncoordinated. Lasted for what felt like hours, but I was 9 and everything lasted forever. ;-) I know this is hard, but I recommend that you stop doing the research and until after you get a diagnosis at least. Soon everything will sound like what your girl has and it will scare the crap crackers out of you for no reason. Go to the neurologist and go from there. Stay calm, stay positive, and hug that little girl and tell her it's alright. The hardest thing about a disease that just pops up from nowhere is thge fear of vthe unknown.
Got it thank Jeff. My neuro said to me the other day after I commented on the very young woman who had gone in before me that if I was going to have ataxia the EA2 was the one I would want, kind of funny, but I know what he means. And I know what you mean too. I take Clonazepam and that seems to help, completely addicted to it k]now, what what do you do? I don't have the downbeating nystagmus all the time, but when I move quickly, try and bend from the waist down, or lie down this all gets aggravated. Unless I'm having a bad spell I can walk around OK, but seem to twilight in the afternoon/evening, then can only get up for 10 minutes at a time without feeling ill. I get very sweaty when I feel ill too. I also order Sturgeron from the UK as the can 'take the top off' nausea and balance to a small degree. It's sold in the UK as a travel sickness pill, not sure where you are from. I'm going to google the patch you have mentioned, thanks, Lucy
Jeff Perreault said:
Hi Lucy,
Sent you a friend request. But, as to how EA2 affects me I have to say I feel rather lucky. Yes, I am always nauseous these days, I have left sided weakness, which makes me use a cane, nystagmus is permanent when I try to move my eyes to the extremes, and I don't feel things well. For instance, I don't feel the electricity when they do that stupid nerve test. Can't remember what it's called. :-) but, other than that it's not too bad. I always think of it like this, "If I had to get a genetic disease, then I'm glad it's only EA2." Oh, and have you tried scopolamine patches for the seasicky feeling? Helps me a lot on particularly bad days.
Lucy said:
Hi Jeff, Gawd was I uncoordinated too as a child. They put me in a special group of three kids in gym class because I couldn't do handstands, cartwheels and all of those important life skills you learn in gym!! How does the EA2 affect you? One of my main issue is that I can't lie down flat, within 10 minutes, I get really sick and my equalibrium has gone? Just interested as there are not too many of us EA2's around. Lucy
Jeff Perreault said:
My symptoms showed up when I was 9, and they came out of nowhere. I had no headaches just vertigo and weakness. And, very uncoordinated. Lasted for what felt like hours, but I was 9 and everything lasted forever. ;-) I know this is hard, but I recommend that you stop doing the research and until after you get a diagnosis at least. Soon everything will sound like what your girl has and it will scare the crap crackers out of you for no reason. Go to the neurologist and go from there. Stay calm, stay positive, and hug that little girl and tell her it's alright. The hardest thing about a disease that just pops up from nowhere is thge fear of vthe unknown.
Thank you everyone. The reason I'm researching myself (and I found EA2 myself, not from a dr), is that the drs at the hospital almost seemed to give up and just say migraines when all the tests came back normal. We have seen the old pedi twice and he still thinks migraines, and the new pedi thinks it something else (had to switch pedis because of insurance). I know she may not have EA2, but in all my research, this is the closest I have come to explaining her symptoms.
Something we figured out last night: If she closes her eyes, the tremors in her fingers stop. But they start back up again as soon as she opens her eyes.
She has not had the ataxia since Friday. I think it might be triggered by something going on at the after care program since all 3 ataxia-type episodes happened at after care. She was at after care Monday, but hasn't been since then.
You know, I couldn't really tell you. Ataxia's kind of manifest differently for everybody. I can only tell you that I shake and that every now and then I get tiny little muscle twitches that make it look like I have a bug or something crawling around under my skin. For me, there doesn't seem to be much rhyme or reason as for when the symptoms pop up. The best thing you can do now is look back into your family history. Write it all down and have it ready for the neurologist especially if there is a chance that anybody in your family history have displayed symptoms similar to your daughters. Ask her if she has ringing in her ears ever, and write down all of the symptoms you have witnessed and how she describes it in her own words. The more info you can give the better. There is also a test for EA2 that your neurologist might want to do or you could ask about it.
Mom2KLJ said:
Thank you everyone. The reason I'm researching myself (and I found EA2 myself, not from a dr), is that the drs at the hospital almost seemed to give up and just say migraines when all the tests came back normal. We have seen the old pedi twice and he still thinks migraines, and the new pedi thinks it something else (had to switch pedis because of insurance). I know she may not have EA2, but in all my research, this is the closest I have come to explaining her symptoms.
Something we figured out last night: If she closes her eyes, the tremors in her fingers stop. But they start back up again as soon as she opens her eyes.
She has not had the ataxia since Friday. I think it might be triggered by something going on at the after care program since all 3 ataxia-type episodes happened at after care. She was at after care Monday, but hasn't been since then.
Dear Mom2KLJ, Although I do have ataxia, I don't have EA2. My ataxia symptoms are 24/7 since diagnosis eleven years ago. I just want to welcome you to this site (also, you did a fine job posting your blog...,ha!). There are wonderful people on this site for support and understanding! My two children are grown now, but I still worry about them (once a mom, always a mom). You sound like a very loving, caring mom, seeking answers for your daughter. People with EA2 can answer your questions and give you helpful advice. I just want to add that although I don't have Gluten Ataxia or Celiac Disease, I do eat gluten, dairy and sugar free, as I just feel better physically and am more clear-headed. I'm not suggesting this for your daughter, just something to think about. Hugs to you and your daughter..., ;o)
Follow your instincts, I have found more answers here or the internet (good quality sights) than from my doctor’s.
My doctor’s try to pacify me and give me very few answers, I find it frustrating at best. Many doctor’s down play the information I give them, when what I really think is going on is; they just dont know.
If you do not get an answer or a satisfactory one, try to get to an Ataxia Center or a Movement Disorder Center.
I noticed on your profile, that you live in Florida. Here are some places where you could take your daughter. http://www.ataxia.org/links/movement-disorder-clinics.asphttp://movementdisorders.ufhealth.org/for-patients/clinics/uf-ataxia-center-of-excellence/x
If this link does not work, go to the National Ataxia Foundation website and you will find a list of ataxia or movement disorders centers in the States, listed by state. They have several in Florida.
It can take months to get an appointment with a specialist.
Also, you may want to show her MRI to another neurologist for a second opinion.
We have had a problem in my family where a member was diagnosed with breast cancer by the radiologist, then another radiologist called for a second opinion said it was not… The oncologist was not sure, so the MRI was sent to a very renown breast cancer specialist specialist in another state and he said that although it was a lesion that " mimicked cancer" it was not one, but had to be removed.
So you just never know…
Best wishes to your little girl. Take care. I know, as a mother, how hard it is when your child is sick, and even more so, when you do not know what is wrong. We just torture ourselves. Hang in there.
No, no tremors for me, but I have down beating nystagmus. I am also co-morbid for migraine, so don't rule it out, migraines are extremely varied from what the general public think they are, eg, intense pain. EA2 can be bought on by stress, but stress doesn't cause EA2 if you know what I mean. Just keep a note of what's going on, like you are, it's all you can do while this process is playing out.
