Hello everyone,
I have been looking for a group like this and am so glad I stumbled upon this site tonight. My daughter will be 3 in May and started to have attacks of ataxia just after her 2nd birthday. Just a couple months ago she was given a diagnosis of EA2 (doctors previously thought it was Gillian Barrie syndrome, then cerebralitis both of which were wrong) we are awaiting blood work to come back from overseas to confirm this. In the mean time they have given her a script for Diamox and asked to medicate her while we wait. I am not completely comfortable with this as they have been wrong in the past and it seems like such a high dose for such a tiny body. Am I crazy for wanting to wait for confirmation before medicating? There isn’t much evidence that this medication is even safe in children. Has anyone else had their young children on this medication? Also, how has growing up with this diagnosis been for people with EA2? She is pretty on spot with development right now aside from not being able to really run or jump like her peers but I worry about her in her future. Any advice would be welcomed 
Mksmommy,
Where do you live? I would wait on using Diamox. I was on another ataxia forum and there was two people used Diamox and it not work.
Yes, I agree with Steve, I would wait until the bloods have come back. Of course I can't go against your medical advise, so I would express concerns and/or negotiate the dosage amount to the GP, it does have side affects, so starting on a pediatric dose may make you feel more comfortable.
Diamox affects my mood negatively, so I can't take it and therefor don't know if it works. It gets rave reviews in medical literature, but I don't think I've come across anyone with EA2 on here or other forums who says it works. Oh and it's known to loose its effectiveness in a lot of people as time goes on.
I couldn't find info on EA2 but this one refers to pediatric Epilepsy dosages of Diamox for under 12's. I'm thinking that the dose you have been recommend might exceed these. Of course none of what I am saying is medical advice! All the best and keep us updated with the results.
Epilepsy
<12 years
- Safety and efficacy not established
Hi Mksmommy!
I put ‘children on Diamox’ in the search box and found someone else on this
site whose child is taking it. In that particular case, the parent seems to report
a positive outcome.
No parent likes to give their child medication, I understand your quandary
I hope the test results come through quickly. xB
Mksmommy,
I feel the doctor's reasoning for the use of Diamox is to try and keep the attacks of EA2 down to a minimum. He might
feel that every time she has a attack she damages a little more of her cerebellum.
Hi Mksmommy, I have a daughter who is now 17 but we first knew there was a problem around 11 months old. They thought for years it was a type of Episodic Ataxia but over the next few years discovered it was a progressive Spinocerebellar Ataxia. They said she wouldn't be walking by the time she was 12 but the doctors were wrong, she is still walking a bit and although she's wobbly and falls often she is still walking. She has pain etc and is also Autistic but we have never been prescribed Diamox but she was given Gabapentin. I don't know if this is a different drug because we are in UK and we use different medications to your country but I'm thinking that if it was my daughter I would prefer to wait until blood test results were back before medicating her. Unfortunately tests have still not been developed to diagnose which of the many types of Ataxia my daughter has and I hope that you get the answers you need very soon. We have always given my daughter Co-enzyme Q10 which the paediatric neurologist said really helps to slow down the shrinkage of the cerebellum and spinal chord in Spinocerebellar Ataxia and I am certain that it has helped my daughter to be walking for so much longer and with less cerebellum shrinkage etc. I really wish you all the best with your daughter. If you need to talk to anyone I'm here for you to do that. Take care
April
Dear Mksmommy, I was diagnosed with ataxia 11 years ago, but it didn't start until I was in my 40's (not EA2), so I'm sorry, I have no advice for you. I just wanted to welcome you this site, as there are wonderful people on here for support and understanding! I know you want the best for your daughter, and I hope you have the answers you so deserve soon! Thinking of you and your daughter...,;o)
I have learned a lot from posters on this site. The only thing I have to offer is that you might won't to read the following:
Mksmommy,
There is one other test your daughter can take it is called Spectracell Micronutrient test. They are located in Houstin Texas
you have to send them your daughter blood and it checks for over 33 vitamins minerals antioxidants amino acids This test is for any deficiencies. Deficiencies in vitamin B1 B6 B12 among others could cause cerebellar damage.
Hi April, just for interest, Diamox (Acetazolamide) and Gabapentin (Neurontin) are different. One use for Gabapentin is for pain, so my guess is that's why your daughter was prescribed that one. Lucy
April Austen said:
Hi Mksmommy, I have a daughter who is now 17 but we first knew there was a problem around 11 months old. They thought for years it was a type of Episodic Ataxia but over the next few years discovered it was a progressive Spinocerebellar Ataxia. They said she wouldn't be walking by the time she was 12 but the doctors were wrong, she is still walking a bit and although she's wobbly and falls often she is still walking. She has pain etc and is also Autistic but we have never been prescribed Diamox but she was given Gabapentin. I don't know if this is a different drug because we are in UK and we use different medications to your country but I'm thinking that if it was my daughter I would prefer to wait until blood test results were back before medicating her. Unfortunately tests have still not been developed to diagnose which of the many types of Ataxia my daughter has and I hope that you get the answers you need very soon. We have always given my daughter Co-enzyme Q10 which the paediatric neurologist said really helps to slow down the shrinkage of the cerebellum and spinal chord in Spinocerebellar Ataxia and I am certain that it has helped my daughter to be walking for so much longer and with less cerebellum shrinkage etc. I really wish you all the best with your daughter. If you need to talk to anyone I'm here for you to do that. Take care
April
Wow, you are all so amazing. It’s wonderful to feel such support from a group of people I have never met. You are all such blessings! It’s hard going through this and not having support from people who know what it’s like. . Most people in my life had never even heard of such diseases. So a big thank you to everyone who has posted their stories and opinions for me to read.
Wishing you and your family the best while you're figuring it all out :)
Hi Lucy and all, ok so now I know it’s Acetazolomide, my daughter was on that for a year and had to have weekly blood tests to check her sodium levels which are affected by that med. her sodium had to give her sodium daily but she was so weak and poorly on it that we had to take her off it after a year of trial. The weekly blood tests and sodium weren’t much fun for her she was only about 4 years old then. Of course drugs work differently for each person but our experience wasn’t good. I hope things are different for MKSmommy’s daughter
April x
I would wait!!!!