Episodic ataxia type 2 in children

[Mariagg]

Hi! My son wasn’t diagnosed with episodic ataxia type 2 at around two years old. Do any of you have episodic ataxia or have children with those disease? Does it get worst? Is the ataxia progressive?

Thanks!

[hsilverman1]

Dear Mariagg,

I have EA 2 and was diagnosed @ 62 yrs. However, it is a genetic disorder that is autosomal dominant. Since I was a child I was always clumsy and uncoordinated.

It took its toll on me in school and socially. I went to college but chose the wrong profession. I struggled for years . Finally, I went back to college to become a early childhood special education teacher 👨‍🏫 (ECSE). The fit was perfect.

EA 2 kicked in fully when I was 42 yrs. The balance and coordination had its ups and downs. I was able to continue teaching until age 58. I retired on disability.

Yes, it gets worse as I use a walker and cane. I hardly drive a car anymore.

Here in Las Vegas, Nevada USA, I go to the Cleveland Clinic for my Neurologist, Physical Therapy, and Speech Pathologist. It has helped me immensely.

You need to have you child receive early childhood services. He/she needs PT, Speech and a good Neurologist versed in Cerebellar Ataxia.

If you have any other questions don’t hesitate.

Good Luck. 👍

Sincerely, Howard Silverman

[Mariagg in reply to hsilverman1]

HI!!! Thanks so much For your reply. He is currently in PT and ST and doing very well. As of now he was he ever has an attack. I pushed for genetic testing because he showed balance issues when he started to walk and because he had a torticollis which we discovered was called benign paroxysmal torticollis. People with genetic alteration in the CACANA1A may have this as An infant. We don’t know if he will have episodic ataxia or hemeplegic migraine since they are both caused by this mutation. Do you have hemeplegic migraine as well? Are you having problems with speech? It’s amazing how your episodic ataxia appeared at a late age. I pray every day that my son will be able to have a somewhat nice normal life.

[hsilverman1 in reply to Mariagg]

Dear M,

Yes I have Hemiplegic Migraine (FHM 2) 2, which goes with Episodic Ataxia 2combined with Spinocerebellar Ataxia 6 (SCA 6). If you read peer reviewed articles, they spell everything out plainly.

Slurred Speech and swallowing problems are common. Our disease is genetic based and usually autosomal dominant; which means it is usually passed down from the Father. Generally you are clumsy and uncoordinated with your body getting more “wobbly “.

Luckily, I married at 40, and it was my wife’s second marriage. So I have 2 step-kids along with 2 grandkids.

With this type of Ataxia, you usually live a full life; except for the handicapping conditions.

I hope this helps you out a little. Don’t lose hope/faith and always be patient.

Always,

Howard Silverman

[Mariagg in reply to hsilverman1]

Dear Howard,

I'm so happy that you got married and have a happy life! I appreciate you responding. Do you have spinocerebellar ataxia or just episodic ataxia? was this discovered through genetic testing?

Thanks!

[hsilverman1 in reply to Mariagg]

Dear M,

I have both Ataxia’s. Some people have the 2 of them. They were discovered with genetic testing @ UCLA. However, when I was 42 a brain 🧠 MRI was done and I was given a general Cerebellar Atrophy/Ataxia definition.

Dear am 65 and still coping and most importantly; here!

Thanks 🙏.

Always,

Howard

[Mariagg in reply to hsilverman1]

I’m si glad your coping! According to my geneticist he doesn’t have sca6 because he doesn’t no have the repeats needed to be diagnosed with that. Sorry to ask but how is hemeplegic migraine and how do you cope during your attacks? Do you feel relatively “normal” at times?

Thanks

[hsilverman1 in reply to Mariagg]

Dear Mariagg,

During my Hemiplegic Migraine attack first I get a visual aura, then my vision pretty much goes out in my right eye. After this my arm starts getting numb and it proceeds to my legs. At the same time my ability to speak is compromised. The speech is quite slow and slurred. I have to lie down. Eventually, the attack stops and leaves me with a headache 🤕.

The entire attack lasts about an hour. Then I have to sleep 💤 it off. Before the ADA in the US, 1990; I had this happen with 4 jobs that I was fired from. Now we have protection, but that is why I also became a teacher. A sub could always take over my class.

Not pleasant but I hope it helps.

Always,

Howard Silverman

[Mariagg in reply to hsilverman1]

Thanks for everything! I'm so sorry you get these bad headaches :(. Ive read people can actually go into a coma so I'm glad your episodes aren't as bad. Have any meds worked for ea2 and migraines?

[hsilverman1 in reply to Mariagg]

Dear M,

Yes, Immetrex, Fioresett, Coffee, magnesium 400, Diamox.

You have to play around with these meds to see which works.

Have a good day.

Always,

Howard

[Mariagg in reply to hsilverman1]

Thanks for all your help! Highly appreciated

[Pinkespace]

In a word yes. My adopted daughter has hereditary Cerebella Ataxia, noticeable since about 8 months, now 19 years is getting worse, her birth mother is housebound. Sorry for the blunt reply.