Great Update!

October 31, 2009

Leah has been doing really well over the past few months. In June we began a new treatment for her seizures. It is a newly FDA approved drug called Vigabatrin. This medication has decreased Leah's seizures by about 95%. Its a wonderful improvement.

Leah has been much happier and stronger with the reduction of seizures. She smiles more and babbles all the time. She has developed a very strong personality towards what she wants and doesn't want. Leah has also begun to use a walker and has actually taken some steps in it. We are so hopeful right now and seeing such great things from her.

In September, I along with 7 other mothers with children conflicted with CDKL5 have started a non-profit organization. The International Foundation for CDKL5 Reasearch-From Cause to Cure will focus on raising funds to help with research, awareness and education. We are very excited about this great step towards a cure. We know we can make a difference for our kids. In August we participated in the 1st Annual CDKL5 Walk-A-Thon. It was held in Richmond, Michigan. Leah raised over $2,000. And the walk raised $25,000. All of the money will go to towards research. We are currently working to put our website together and we will hopefully be up and running by the first of the year.

Leah just celebrated her 2nd birthday on December 8. We had a great day. In lieu of gifts this year, we asked for donations for CDKL5 research. We received $600. It was wonderful to see every one's generosity. The money will be sent to doctors in Australia that are focusing primarily on CDKL5 research. We know it will help. And we would like to thank all who contributed again.

As for Leah, she is doing pretty good. We have taken her off one of her anti-epileptic medications and she has become much more aware and her cognition has improved. She is getting a little stronger and she really seems to want to do more than she can right now. Her seizures, unfortunately, have not gone away but they have reduced some and she bounces back from them a lot quicker than she used to.

We are looking forward to Christmas and vacation. We hope everyone has a wonderful holiday!

Leah's Story

Leah Rose Barnes was born on December 8, 2006. We were blessed to have a beautiful baby girl and she was perfect. When Leah was about 2 months old, we started to notice some weird movements. We saw her pediatrician who was not very concerned and recommended just keeping an eye on things. The movements became more dramatic. We became very concerned and saw a local neurologist. He felt that Leah was having seizures. When Leah was four months old we took her to a Children's Hospital not far from our home. After a 36 hour video EEG, they could not find anything wrong with her. They felt that she may have some severe reflux which could be causing some muscle spasms. We left the hospital feeling relieved and thought that after all the testing this sounded right. We followed up with a GI doctor and treated her for reflux. Things did not get better. We saw the neurologist again, and he felt that we were being too concerned and if it were something more serious the tests would have shown something. We again trusted this doctor's opinion. But somewhere inside us I think we both knew that he wasn't right. Things did not get any better and after struggling with the same doctor we decided to move on. When Leah was 9 months old, we took her to the Cleveland Clinic. We were immediately admitted into the hospital and after another video EEG, the neurologists told us that Leah had Infantile Spasms. We were told that this was a very severe epilepsy in infants and we began a very strenuous treatment. Leah began taking anti-epileptics and ACTH, which is a steroid. She was on the steroid for 4 months. This did help things, but did not completely relieve the seizures. We then began testing Leah to see if we could find the cause of the seizure. By this time we had gotten Leah in occupational and physical therapy. Leah was already very delayed and was very hypotonic(low muscle tone). In April of 2008 we were told that Leah had a mutation on her CDKL5 gene. Our immediate thoughts were "what does that mean?" Unfortunately there were not a lot of answers to this question. The finding for CDKL5 are very new and not much is known about it. Our geneticist explained that she has atypical RETT Syndrome. Leah does have some characteristics of RETTS. Since her diagnosis, we have immersed ourselves in research and have tried to find out everything we can about this mutation. Our greatest finding was an online support group for families effected by CDKL5. They have truly been a source of hope, information and support. I don't where we would be without them.

Leah is now 21 months old. She is on the Ketogenic Diet to help control her seizures along with her anti-epileptic medications. She is still receiving occupational and physical therapy along with play therapy.

Leah is a beautiful little girl. She loves bath time, music, the sound of waves and her family.

Each day is difficult for us, but we know that we are very blessed to have this little angle in our lives.