Hello, thank you for your email. Yes you are right. Her condition changed significantly several times during her life. It is mainly epilepsy. I will be happy to give you all the information about her. I would like to ask if you know of someone who also has an older child, an adult with the same defect. Mizuho (my daughter) is going through a very difficult last year, things have gone very wrong with her tolerance to medication. Since she was 28 years old, we have not been able to manage her epilepsy, she reacts very poorly to all anti-epileptic drugs, her psyche has deteriorated a lot. She has brain MRI findings, but no tumor. She has been on one medication for most of her life with minimal seizures. After changing meds due to fluctuating sodium and potassium levels, everything went absolutely wrong. the worst thing is that my daughter doesn't speak, so we just search and try. This is the first time we fail.
Could you please, if you can, send me a link to some cases that are described by doctors in the literature or in professional articles? Do you know of any case where the patient was older than my daughter?
If anyone is really interested, I can provide information about the genetic testing and affected genes of my daughter and describe the development of her health condition since birth. It was fine for many years, just life with a bigger, laughing baby. 😀 But the last year is the worst of all........
I am sorry for my English. I have studied for several years, I can understand and communicate, but not very well. Have a nice day and thank you for your email, it meant a lot to me.