The Next Step and Finding the Walsh Lab

As a mother I felt like I went into survival mode.....searching frantically online for any information. There was very little. Only some very general information that was actually quite scary. Seizures and shorter life expectancy. So many different variations of this condition that it was hard to tell where Emmie fit.

I did find a blog that said that if your child was diagnosed with Pachygyria...sometimes its a misdiagnosed and that you should contact the Walsh Lab at Boston Children's Hospital. I immediately contacted them after seeing that they are leaders in research for this disorder and seemed to know everything there is to know about Emmies condition.

They said that they would look at the disk to see if Emmie would qualify for their research study and also give us an informal second opinion.

I sent Emmie's MRI disks for them to review as fast as I could just before Thanksgiving!!

After bothering poor Brenda many times checking in (I was TRYING to be patient) to see what their conclusion was...she finally called me just before Christmas.

They thought Emmie had been misdiagnosed and they thought it was Polymicrogyria instead

Similar condition but Emmies brain has more folds as apposed to less folds with the previous diagnosis Pachygyria.

It was bitter sweet....They thought that Emmie would still get the seizures but that she DID NOT need the brain shunt surgery. They also thought that Emmie had a rare gene mutation called GPR56 that we should test her for.

I was trying to listen to everything Brenda said but I felt like I was in a dream. Trying to write everything down and not wanting to let her off the phone....I had SO many questions.

We decided to make an appointment to visit them in Boston so they could meet Emmie and we could get the answers we weren't getting from Emmies Neurologist in Florida.

It was the longest month EVER waiting for that appointment. A month of fighting insurance to try to get the meeting in Boston covered. With a lot of persistence from myself and Emmies pediatrician we FINALLY got the meeting covered two days before we left for Boston and only because the Dr's in FL didn't seem to know about the condition. It is doable....you need to be persistent!!! (now getting genetic testing covered...thats another story)