Blepharospasm Bulletin Board

A success story!
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Posted by: tatia
10/25/2011, 09:54:45


Hi everyone,

Do you remember DanaDaisy from Italy who used to post about her daughter? Here's an update:

Hi Tatia,

Maybe you remember me, I was on dystonia-blepharospasm forum, but my daughter channelopathy is complicated as yours. It is a mix of weakness, diplopia, blepharospasm, dystonia , gait and trunk ataxia, involuntary eyes movements etc. Have you ever tried diamox? My daughter is on diamox from more then month and...I can't belive, what I see. She is fine, the first time in her life, she told that muscles work so good now, she didn't know that someone can be so normal. No double vision, no periodic squint, normal strength, no dystonic spasms, no blepharospasm.

It is the second trial of diamox. the first time it seemed it made her weak...but now she takes a lot of potassium, calcium and lyrica. have ever tried lyrica? Maybe it helps to diamox to work better, as it modulates PQ calcium channel? someone on the facebook group, noticed that calcium channelopathy improves after calcium channels blockers drug, potassium channelopathy after potassium channels blocker and sodium channelopathy after sodium ch. blockers. Some people with episodic ataxia and weakness use 4 DAP (diaminopirydine) potassium channel blocker(it made my daughter very weak). Sometimes it is a mix channelopathy and we have to use some combination of drugs. My daughter takes huge dose of Potassium (prescription required ) 2400 mg a day)(1-SEE NOTES) and she has to take it becouse without potassium she was very weak after diamox. Maybe lyrica(pregabalin ) works well with diamox combo...who knows. I watched your videos, many times, you have dystonia, weakness, and some ataxia. We have tried all drugs possibile, I belive that for you exist magic combo!

you know it seems a dream, as my daughter make things she has never done in her life. She is so strong and resistent, she can read, focusing without problem, she has no dystonia, no stiffness, no blepharospasm, no spasms of facial muscle, no dizziness.

She was diagnosed with dystonia with blepharospasm, and myasthenia...all in big university clinics, so sometimes drs are wrong.(2) Two years ago one spanish prof. very smart saw her ocular movements and told it has to be calcium channelopathy, episodic ataxia type 2, and I asked our neuro many times if it possibile, but they didn't belive ...maybe many drs don't know channelopathies. I have read on line, that diamox help in dystonia and stiffnes sometimes so it is worth trying as it is not heavy drug. Yes, please write about diamox on the bulletin board as I forgot my password and you surely can explain better all the stuff.


take care
Dana

Notes:

1. Too much potassium can be deadly, especially if the kidneys are not functioning properly. Always work with a doctor when using dosages like this. Diamox causes potassium loss.

2. Dystonia is a symptom of Episodic Ataxia. The Dystonia diagnosis was not inaccurate, just very incomplete.




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Re: A success story!
Re: A success story! -- tatia Top of thread Archive
Posted by: tatia
10/25/2011, 10:08:18


Episodic Ataxia type 2 is caused by a mutation to the Calcium Channel gene CACNA1A. This gene codes the proteins for P/Q type calcium channels, located in the cerebellum. The cerebellum is part of the brain that plays a major role in coordinating movement. The function of the P/Q type calcium channels is neurotransmitter release.


http://www.ncbi.nlm.nih.gov/books/NBK1501/

Spinocerebellar ataxia type 6 is also caused by a defect in the CACNA1A gene. 25% of patients with SCA6 develop Dystonia and blepharospasm.


http://www.ncbi.nlm.nih.gov/books/NBK1140/




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Re: A success story!
Re: A success story! -- tatia Top of thread Archive
Posted by: pdb
10/25/2011, 19:41:14


Tatia,

Sounds like a great result. Good for you for spotting which visitors to our bulletin board have symptoms beyond typical BEB/Meige.

Peter




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Re: A success story!
Re: Re: A success story! -- pdb Top of thread Archive
Posted by: In Indiana
10/26/2011, 07:35:39


Hi, Tatia-
Thank you SO MUCH for sharing, and please pass on to Dana that I am so happy for her and her daughter.
Channelopathies are so complicated, and it seems that few doctors understand or treat them. I'm convinced that many doctors don't even know about them - even doctors who specialize in BEB. This is too bad, since there are likely others out there who have been diagnosed with BEB but actually have blepharospasm secondary to a channelopathy.



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Re: Thanks, but....
Re: Re: A success story! -- pdb Top of thread Archive
Posted by: tatia
10/26/2011, 12:06:19


Thanks Peter for your kind words, but her success has nothing to do with me.

Dana has been posting here since 2005, and her daughter got the episodic ataxia diagnosis in 2007.


http://www.blepharospasm.org/forumarchives/beb2/58867.html

In Indiana told me about channelopathies in 2007, but I didn't even start to believe her until March of 2008 when a doctor who's heard of the disorders mentioned this to me as a possibility and told me to Google it.

I had dismissed Episodic Ataxia for myself because I don't have the balance problems, double vision, nystagmus (eyeball movement disorder), vertigo, etc. Last week, a first-degree relative had an episode of nystagmus, so I'm checking into EA more thoroughly and open-mindedly. Who should I meet on the EA forum, but Dana, with this amazing story about Diamox and potassium, added to the calcium-channel modulator, Lyrica.

At least one other member here has complained of falls and balance issues, episodes of generalized dystonia, and has a positive response to Neurontin. From Wikipedia: "Neurontin (Gabapentin) binds to the α2δ subunit and has been found to reduce calcium currents after chronic but not acute application via an effect on trafficking of voltage-dependent calcium channels in the central nervous system. This effect on calcium channel trafficking is another possible mechanism of action of gabapentin, but the exact mechanism remains in dispute." Who knows if this is relevant to her case, but it seems close enough that this information should be out there for whomever might need it.



Modified by tatia at Wed, Oct 26, 2011, 12:09:33

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