Hello!
So today we had the neurologist appointment. Per neurogenetics they believe my son has hemiplegic migraine.
How does this feel?
They thought because he has had limping episodes and some sided weakness But he also has some balance and low muscle tone issues. I haven’t noted migraines on him yet.
Any information would be very helpful! They have me diamox just in case he starts having recurrentes attacks.
It’s possible this could be linked to Episodic Ataxia… Before I was properly diagnosed, I had one seizure in my sleep (my husband thought I was having a stroke) and later a week of horrendous headaches but nothing other than mild Atrophy showed up on an MRI. At the time I was also experiencing deja vu episodes, these lasted from seconds, to a couple of minutes. It invariably occurred when I got up in the mornining, after I started bending and moving around. The sensation is difficult to put into words, I’ve since been able to relate to descriptions given by other people. Initially there would be a fleeting deja vu ‘picture’ flash into my mind. Then I’d feel nauseous, dizzy and very weak, no headache. All of this could take place in seconds and I’d brush it off and get on with the day. Occasionally, the sensation would make me feel the need to lie down till it settled, sometimes it took a few minutes but I never lost consciousness. I didn’t experience other physical sensations associated with Hemiplegic Migraine. Although, since childhood, off and on I’ve experienced pins and needles in my tongue, this can be associated with the condition.
A friend regularly suffered very disabling migraine headaches (not ataxia) and once had a deja vu episode, I was with her as she waited for an ambulance. At the time, I cautioned her husband to be careful about any description he gave to triage nurses at the hospital. This was because of my own experience. After an examination it was
confirmed the ‘episode’ wasn’t Epilepsy it was related to Migraine Aura.
I’m prescribed Diamox ( Acetazolamide in the UK). The recommended dose is actually more than I can tolerate because of intense pins and needles, so there has been a period of adjustment. But, everyone reacts differently to medication. Luckily I’ve been able to find a happy balance, for me the medication helps with vertigo when I lie down, and deja vu is controlled.
I looked online, there is information out there relating to Hemiplegic Migraine in children. It’s worth having a look just to help you understand the condition but remember, not all children will experience exactly the same symptoms.
It’s likely that I’ve rambled on too much😏 I hope you find the link helpful🙂
https://americanmigrainefoundation.org look for the link to children.
xB
Thanks so much rly! I’m not quite sure if this is a correct diagnosis since he hasn’t never ever complained of having a headache. He has had episode where he has a leg limp for a day or for a bit and then it goes away. His main issues is a bit of balance and low muscle tone. I will definitely get a second opinion because they couldn’t explain anything. This was a neurogenetics consultation and it was a total mess.
So I feel like we are back at square zero. Dr told me not to medicate him yet because he is doing so well. I have the medicine just in case he starts having episodes etc… they have him a quarter of 250 mg diamox in the morning and afternoon.
Thanks again! I will check the website out
I never had headache but I have the diagnosis of EA/ hemiplegic migraine. It’s probably not very meaningful to differentiate the two since they are found to implicate the same gene. Symptoms overlap a lot. My head sensation is pressure not pain, but I think there may be no real distinction between pain and pressure in a neurological sense anyway. Migraine is a grossly misunderstood phenotypical disorder. Don’t get too fixated on the pain aspect, since it’s a crude sensation for underlying neurological pathology.
Just to tell you, this morning I received results relating to a blood test sent by my Neurologist for specific testing in London.
‘Genetic results have not identified a pathogenic mutation in a panel of genes associated with Episodic Ataxia’.
So, I wouldn’t want you to place too much emphasise on symptoms I experience, and my previous thoughts about them being linked to Episodic Ataxia xB
Thanks for he info Anna. How does it affect your life? When did It start? Si you take any medications for it? Do you get the one sided weakeness?
Sorry for all the questions but I want to know what to expect. I know this manifests differently on everyone, but what has it been like for you?
Thanks!
Thanks Beryl 
My son has a de novo mutation and a new variations that has not been recorded but they obviously believe its pathogenic because of his clinical history. I just don’t see the link to mild low muscle tone with HM
It is possible for Neurological conditions to ‘overlap’ making accurate diagnosis more lengthy. Sometimes explanations at appointments can seem logical at the time, then when you’ve had time to mull things over, things aren’t quite as clear At the next appointment bring your query up xB
this will probably be my sons case. Have you ever had hemiplegic migraines? Do you know if they can sometimes just be have the weakness but not the migraines?
Sorry to ask so much but you seem to know a lot about this 
On this site most of us are well familiar with Cerebellar Ataxia symptoms and causes etc the links I gave were in response to information you had given, I hoped they would help.
Just now, I googled ‘Hemiplegic Migraine in children’ there were numerous links. Scroll through them, most give explanations of muscle weaknesses. You are likely to come across information that is not relevant at this point, so focus on the exact enquiry, otherwise you’ll end up totally confused. To be honest, the most reliable information will be from your child’s Neurologist, as with ataxia, individuals can vary enormously, and the Neurologist has access to personal data. xB
Hi, when you say your son is diagnosed with EA2, I presume that this means it is confirmed with a genetic test. My diagnosis is only partial as I have symptoms but I am still waiting for genetic test as part of the research project. I may or may not ever find out what it is. My onset is 30, with a mature neural network, whereas your son’s brain is still developing so a lot can differ between us two even if we do have the same disorder. My symptoms are always restricted to my right side. Sometimes I get pure ataxia, sometimes paresis. My arm is relatively unaffected nowadays although there were times last year when I could not hold a spoon or do handwriting. Dysarthria tends to last minutes rather than hours. The disorder has been very debilitating for me. At times I did wonder how I could carry on (just some logical concern not depression). I am in a much better place now although no thanks to doctors. Diamox does not work that well for me. It might have worked a little, but overall it has been unsatisfactory.
If your son experience sensory overload you can get ear defenders for him. I use them whenever I go out.
For me I normally just have weakness and/ or ataxia without migraine. Headache sensation is crude anyway as there are no pain receptors in the brain itself. It is just the meninges that have pain receptors. IMO you can totally have signal problems (resulting in weakness etc) without eliciting pains. When I feel my brain is unstable, it is a vague sensation, not pain not pressure, but just feel that I have less agency of my own body and senses.
Hi Anna,
Thanks so much for your reply! They did find a variation in my sons CACANA1A gene. It’s a de novo mutation. My son basically has a bit of low muscle tone and balance problems. Besides that he has never had vertigo, throwing up etc. We had a neurogenetics appointment last week and they said that they think it’s more of hemiplegic migraine because he has a bit of one sided weakeness and has had times where he has a leg lump with no reason. Hopefully this one be progressive form him. They couldn’t confirm anything. They also said tha EA and HM overlap so he might get both. It’s all a wait and see. He is currently not on meds because the neurologist didn’t think he needs it yet.
Thanks again!
I meant to write a leg LIMP. I showed them videos of this. He’s gait gets worse when he is sick. He currently has the flu and was a bit ataxic.
Glad that they have located the gene! Yeah that’d be EA2 I’ve never thrown up either, just slight nausea. Although remember symptoms can change (at least for me), probably dependent on which neural pathway is playing up. When I have ataxia (not paresis) I found hiking poles really help (proprioception I think). When I have paresis just the normal walking stick will do since I needed to put weight on for support. If you want to tell the difference between paresis and ataxia just ask him to lift the leg up. If he can, it’s probably ataxia, if not, then definitely paresis (although both can happen together as well…). Glad that he does not need med yet Kudos to you and your boy in dealing with this!! Hope he gets better soon. xxx
Thanks ANNA!! He is always able to lift his leg. I’m sure symptoms will start appearing little by little. I’m sure no one with this variation is asymptomatic. How old where you when it all started and has it been progressive? How recurrent and for how lingo do episodes usually last?
Sorry for all these questions! X
As I mentioned before I have no genetic confirmation yet so the etiology may differ. Having said that I do believe symptom management can be similar across different types of EA with similar duration. The way I see EA, without any scientific backing, is that it may be some kind of epilepsy in the cerebellum. I just went to an interesting seminar where the same (or similar) neurological disorder may present in different phenotypes, where some express it as epilepsy, and some others as schizophrenia, dependent on the affected network in the brain. Anyway slightly off topic now. My onset was only last year (30) and subjectively I think it is progressive as I feel my baseline motor skill has shifted. Of course, the only way to know is to have an MRI comparison and see the extent of atrophy, which has not been done yet. Most EAs are slowly progressive (according to my doc) but I think the atrophy is the result of repeated stress to the neurons. I did ask my doctor if the frequency of attack correlates with the rate of progression, she said she did not know. Intuitively I think it makes sense anyway. Mine is very frequent as they are weekly. I may just wake up not able to walk and that tend to last for 3-4 days to resolve enough so I can travel some distance (there will be minutes or hours of respite during the 3-4 days). However from what I gather most people’s episodes are less frequent. I am on a self-healing route and I do feel a lot better these days and my cognitive ability is slowly returning.
I’m so sorry you are going through all this Anna and I hope you get a diagnosis soon! This is such a bad disease . Thanks for all the info provided. Your neurologist believes you have EA2? I didn’t know it got as bad as not being able to walk. Pretty scary stuff 
My neurologist just put down EA/hemiplegic Migraine as diagnosis. What’s horrible is not so much that I cannot walk but I feel like being in the prison of my own body. Although the disorder has changed my life I’ve not had depression which was my biggest fear. The good thing is that I’m a psychologist so I’m naturally interested in the neurological disorders 
. I enjoy reading all the research in the area. I’m doing pretty well psychologically. The biggest challenge is to make loved ones understand. With good intention, people want me to ‘try’ to walk or do things when I can’t, and the idea of getting a wheelchair for occasional use is abhorrent to my partner. It is the lack of agency over my body that is debilitating, not so much the external symptoms. Sometimes I can walk but my brain is unstable; yet sometimes I have some trouble walking but my brain was not as bad as one would expect. External symptoms can tell a bit about how I’m doing but not all. It’s good that your son’s symptoms are mild. How old is he?