Does anyone have gene mutation ATP1a3?

[Leona89]

Good Morning,

My daughter has Cerebella Ataxia. She has recently received results from genetic testing which was carried out approximately 4 years ago. This results shows a genetic mutation to gene ATP1a3.

My daughter who is now 12 years old and started high school in August, was prescribed Mycophenolate in 2014. This medication worked well for my daughter for the 4 years which she was on the disease modifying drug, however due to there being no scientific papers supporting the use of such a drug with this gene mutation the Mycophenolate was discontinued. Unfortunately within two weeks of her last dose of Mycophenolate my daughter developed a throat infection and as with previous episodes became increasingly ataxic.

The neurologist, who my daughter has been under the care of since the age of 2 prescribed clonazepam, this drug did help with my daughter's jerking movements but didn't help with her mobility. She is requiring to use her wheelchair all the time out with the house & inside the house my husband and I are having to support her. She is absolutely exhausted at the moment and is finding school very difficult despite having a full time additional support worker. As a result of all this my daughter is feeling very down and self conscious.

When we saw the neurologist last week he told us that in his opinion this episode is a result of coming off Mycophenolate, however as there are no scientific papers backing up the use of disease modifying drugs with this gene mutation his colleagues would not agree to this treatment but would perhaps suggest the Ketogenic diet.

The rational for the Ketogenic diet is that ATP1a3 can sometimes manifest as epilepsy and this diet helps to control the amount of seizures in children when drugs are not giving enough control. However I would be worried about putting my daughter on a high fat, high protein, low carbohydrate diet in her teenage years.

My questions to you all is :

Do any of you have gene mutation APT1a3 ?

Have any of you been prescribed Mycophenolate for Cerebellar Ataxia and in particular for this gene mutation?

Have any of you been prescribed the Ketogenic diet?

Finally how do I help support my daughter psychologically?

Sorry for such a long winded post and so many questions

Thank-you for taking the time to read this post,

Pauline