The Results Are In!

I won't leave you hanging

Rayleigh received a diagnosis today.
She has CDKL5.

Now I'll start at the beginning of today's doctor appointment.

Bug had a appointment today with her pediatric epileptologist and the genetic team he works with. This was a routine visit but we would be discussing the genetic disorder CDKL5. We assumed we would have to redraw Bug's blood to redo the test because the results were still not in.

We saw the genetics team first and they went over her medical history since her last genetics visit which was over a year ago. Then they asked about the CDKL5 results and we explained to them how we had been calling the neuro office and the lap weekly for the results. We went into all the details that I wrote about in this blog post... and this post. The geneticist sent out a member of his team to call the lab that her blood was sent to directly. When she returned she said that they just finished the test yesterday and they are faxing the results over RIGHT NOW! I was shocked and I'm pretty sure Michael's jaw hit the floor. Definitely not the news we expected!

While waiting for the results to arrive we went ahead and saw the epileptologist. He said that we need to come up with a new plan of action on Bug's treatment because his goal, no matter what the results, is to get Bug to zero seizures and zero side effects - a high goal but he wants to get as close to achieving it as we can! He advised us to go ahead and get Rayleigh Bug off the Ketogenic Diet. He believes (as do we) that it is now doing more harm than good. Obviously her seizures aren't controlled and on the diet her reflux and other tummy issues are off the charts. I'll do a separate post on quitting the Keto Diet.

The epileptologist also wants us to go up on the Vimpat, a week after getting off the diet, and stay at the current, lower Lamictal dose. Bug is doing better with the lower Lamictal - taking naps more, much happier through the day, and eating well!

Then he excused himself for a few minutes to check with genetics on the results of her test.

When he returned he was accompanied by the entire genetics team. They wasted no time in telling us that the results are in and she does have the genetic mutation. A member of the team handed me the following paper:

The final report was done yesterday, October 1, 2012, and the mutation on CDKL5 is on her p.Q347X. I will do a seperate blog post on the specifics of CDKL5. In short, it is a genetic disorder that presents seizures and severe developmental/cognitive delays that usually start within the first year of life. The seizures are generally difficult to control and there is currently no treatment or cure.

For more information visit the International Foundation for CDKL5 Page.

This news was not surprising to us. I think we've known, or felt, that this is what Rayleigh has since the day months ago that a dear friend let us know that their daughter was diagnosed with CDKL5.

I've been a part of the CDKL5 group on Facebook since we started raising money to have this test done and I have felt like family from day one of joining but now I know my baby Bug belongs to that group.

The geneticists and epileptologist were all impressed at how well we took the news and how knowledgeable we were about CDKL5 and what the diagnosis means. It's reassuring to know that Rayleigh has such an amazing group of people that love her and care for her and know just how amazing and strong she truly is.

I got a little emotional after the group of doctors left the room to gather papers for us. Not because Bug has CDKL5. But because this has been such a trying journey and now we have our answer. All the testing, all the questioning, all the insurance crap, we have a diagnosis. We have our answer.

They call those that are diagnosed with CDKL5 "angels" and I think we can all agree that Bug is just another sweet angel.