I'm looking for someone who has EA2 to chat with. My daughter shows signs of having it. We don't see the specialist for another 2 weeks though. If you have EA2, can you please contact me?
My sin is 18 months and has episodic ataxia.
I have EA2,but mine is hereditary and I’m 35 and tried several things to help with the symptoms and it hasn’t work
I have ea2. I’m 38, was diagnosed when I 32. Like Temecula, mine is hereditary. (My Mom has it).
This is one of the terms the doctors have said my daughter has. Not confirmed as they are still looking for a cause for her ataxia. She is 7 years old.
I am EA2, bad symptoms started when I was about 31, but on reflection with the neuro had some symptoms when I was younger.
Mom of Ataxic, I sent you a friend request. I’m new to this site , not sure how to message someone privately…
My neurologist was leaning toward EA, but feels that because of some other factors that i may have some other form of SCA since I have joint, and urinary involvement too. I was unable to get genetic screening authorized by my insurance so now I am awaiting a referral to an ataxia center at John Hopkins University. my Neurologist has admitted that It's a bit above his scope to determine exactly what my diagnosis (other than a general "cerebellar ataxia disorder") or my prognosis may be
I am not diagnosed but believe strongly that I have EA1. They say it is similar to EA2 but each attack for me is only seconds to minutes. Some times recovery takes longer than that. I have it since I was 11 - I am now 67 and still not diagnosed. There were many diagnoses along the way but most of them were recalled by the doctors years later. When a number of them recalled their own diagnoses I started looking for the cause of my symptoms by myself. I am here to chat if you want to,
Hi I have EA2. It took 3 years for my diagnosis. I am now 61 years old. Thinking back I believe that I had symptoms earlier in life but just ignored them thinking I was just clumsy or had to much to drink.
What kind of information can I help you with? I am in the US and am curious what kind of specialist you are seeing.
I have not had genetic testing as my insurance would not cover much of the large cost. I have no family members with ataxia so spending that kind of money to be told it is "unknown" didn't make sense to me. My MRI's have shown the damage to the cerebellum. Overall I had 9 MRIs and was first told I had a TIA (mini-stroke) but then that was dismissed. Am on Diamox for 1 year now. The first 2 weeks on the drug I felt like "Wow I'm back to normal" but after that my episodes came back. Not as intense (unless I get really stressed out) but back. I use a cane for stability or walking sticks to help with balance.
Will try to send you a friend request.
I may have EA2 - not positively diagnosed yet. I have another appointment Sept 10, 2014 with Dr. Zachary London, the Assistant Professor of Neurology at University of Michigan Movement Disorder Clinic. In Aug 2011 I was seen there and he felt I either had Demyelinating Disease or Hereditary Episodic Ataxia. He didn't specify which type, as there are no Genetic Tests to diagnose it, but my symptoms most closely are the same as EA2.
After my episodes in 2011-2012, I didn't have any episodes until May 2014. I am currently experiencing episodes again. I have been seen in the ER for one leg going completely numb with weakness in my left arm just a week ago. I have had daily migraine headaches, and eye movement problems. I have increased my dose of Gabapentin 100mg from (1) 4x a day to (2) 3x a day to control the eye movements. It doesn't help with Ataxia, but it does help with nerve pain which I have from post herpetic neuralgia from a flareup of Zoster (Shingles) in May. What types of problems is your daughter having? Has she been tested for Celiac Disease?
I am about to be tested for that. My daughter is thought to have it, and it's familial and cause neurological problems and Ataxia. Just a thought.
Thank you for the many replies! My daughter is 8, almost 9. She has been having episodes where the muscles in her legs are very weak and she is unable to maintain a standing position without assistance. It seems the episodes are brought on by stress or exertion, but I haven’t been able to pinpoint a definite trigger. The episodes last about an hour and are accompanied by headache, dizziness, and just a general “not feeling well” feeling. Her eyes glaze over and she just looks sick. The episodes come on fairly quickly and resolve fairly quickly. She has also had episodes of nystagmus (side to side) and tremors. She had an episode in Feb that lasted longer (most of the night), a few in March, and in the last 2 weeks, she has had about 10. She says that her legs from the knee down feel weird, but she’s unable to explain any more than that. All the tests have come back clear (CT, lumbar puncture, 2 MRIs, and various blood work). She does have a small (fairly common) hole in her heart called a PFO and has right-to-left shunting of blood through the PFO, but her cardiologist doesn’t think it’s related. She has an appointment to see Dr Zesiewicz at USF in about 2 weeks. Dr Zesiewicz specializes in ataxia and other movement disorders.
I would really like for someone who has EA2 to tell me about their symptoms (particularly if the patient is a child). I’m unsure if insurance will pay for the test, or even if she has it. It’s the closest that I have been able to find that matches her symptoms.
I am sorry to hear about your daughter. The "weird" leg pain could be paresthesias. I get those in my whole body when I have an episode - it is numbness and tingling. I also recently had my whole leg go completely numb for 4 hrs. and it was difficult to stand. I needed my walker to go short distances. I get daily headaches and also do not feel well when I have an episode. I feel very weak suddenly (kind of like having the flu suddenly). The Gabapentin does help with the eye movements. There are no Genetic tests for EA1 through EA7 Episodic Ataxia. I hope your appointment with the Neurologist can answer some of your questions. It can be very mysterious the way it comes and goes and causes such severe symptoms, then you are fairly normal in between attacks. For years Neurologists have told me they thought I have MS, but the tests rule it out. Even at University of MIchigan in 2011. The neurologist asked me to tell him my history. His first response was "It sure sounds like MS". MS has been ruled out again with an MRI of the Brain recently. Episodic Ataxia is hereditary. Does anyone else in the family have symptoms? My episodes are brought on by exertion, pesticides, drug reactions, nutritional deficiencies, and made worse by stress.
I hope you understand if I intercede here. Episodic Ataxias do have genetic causes and for some of them the genes are known. Type 1 gene is KCNA1 which codes for the voltage gated potassium channel KV1.1, and type 2 is CACNA1A which codes for the voltage gated calcium channel CaV2.1. You may imagine those channels as tiny openings in the cell wall that allow calcium or potassium to pass into the cell. For type 1 there are currently 17 possible gene mutations known, all in the same gene. There are 19 mutations known for type 2, one of which is also known to cause spinocerebellar ataxia type-6. They can check on specific genes if it is know which genes to check on. One of my sons is a Molecular Biologist and I know a little bit about it. My problem is that genetic testing is expensive and I have to find a doctor who can justify the test to the insurance company.
Thank you for correcting me. I was going by the literature sent to me by the National Ataxia Foundation. It said no genetic testing was available for EA1-EA7. They should update their literature if it is incorrect. I don't know if Medicare A&B pays for genetic testing, but I know that my BCBS Federal Employee Plan doesn't. I know it is very expensive. I will discuss testing however with Dr. London at University of Michigan at my Sept. appt. Also, glad to hear you are so strong athletically- that must help you get around when you aren't having episodes. I have severe arthritis in my entire spine, so I have trouble walking very far anyways. I used to swim a mile 3x a week, and do 1 hr. of weight training and 1 hr. of aerobics 5-6x a week. I had a gym membership that I actively used for 25 yrs. I miss being able to exercise, I always felt so good when I left the gym. I did water exercise after my neck fusion, but now have a paralyzed diaphragm on one lung, and the water pressure makes it hard for me to breath. I am looking forward to PT at the rehab hospital here in Grand Rapids. My doctor has ordered it and I'm waiting for a phone call. It is for balance and strength. I am also having acupuncture with an Internal Med doctor. The first session helped with my limping and my migraines.
I only mentioned my athletic family to say that we are genetically a little stronger. I did not mean to say I am athletic. Just my bones appear to be stronger than most. In my present condition I could not jog for 20 feet.