Genetic testing

I haven't mentioned this because we didn't have official results. Now that we do I thought I'd share!  We did a bunch of genetic testing to see if we could have a reason for zoeys infantile spasms/epilepsy. We got the news that she may have a disease called Rhett syndrome. Not a disease that we wanted to deal with. Basically she would regress. No hand movements, no walking, no speaking.  It was devastating. We then ordered more genetic  testing to see how bad it could be. 

Sometimes you can miss part of your DNA and it won't affect you. So we did a lot of family time, praying, fasting and a lot of talking. What we had was a miracle. We recieved an email today from the doctor telling us that the first test was a false positive. She is not missing any part of any gene. No Rhett syndrome. While it is annoying not to have a reason why Zoey had infantile spasms, we are glad to not have a genetic disorder that could impact future kids either.  What a relief!  Zoey has come so far this last year, and is a beautiful happy child. To think she might have lost that was devastating. I know life is still going to be hard for her. It will still be hard for us, but I'm happy. We are happy!  

This family needed some good news!

Tests,tests, and more tests!

Okay here is the big update for everyone. Zoey was taking a med called zonisamide that I had high hopes for, but did nothing. Now we are on another medication called vimpat. It seems to be helping, but not enough. Instead of having seizures daily, she is having them every 2 or 3 days. After watching these seizures, I had a huge fear that her infantile spasms were back. So back to the testing games we went. She had an MRI on Wednesday which was long and made us all exhausted. Results came back good. Last year she showed some deep tissue injuries from her spasms. This time, there were no signs of injuries at all. Old or new!

Thursday we went in for another EEG to make sure spasms weren't back. Lucky for us there is no infantile spasms going on. She still shows abnormal signs which means she has seizures going on (duh!). So now we wait until Tuesday to talk to our neurologist and find out what step to take now.  I have to say she was the cutest little girl for the EEG. If you have never had one, they hold your head still then put tons of goo and electrodes all over your head. I would say about 20-30 electrodes. She was smiling and grinning and making everyone laugh. No crying or fighting. She was a beautiful little toddler making everyone love her. She is good at that! Her favorite person is joe joe her brother who continuously tries to make her laugh.