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.
3 comments:
Leah is beautiful! I just wanted to let you know, I think letting people know your story is great! What an amazing family! If you ever need anything, I am here, just ask. I am so glad I have the opportunity to get to know you and work with you. Can't wait to read the next posting. God Bless!
I am glad to hear that you had a great holiday. It was really good to see you. I think what you are doing and what you did for Leah's birthday is inspirational. You and Leah and Brian are always in my thoughts and prayers!
Hello, my name is Kristin leopoldino and I just read about Leah, as my daughter, Avery, just turned two, was just diagnosed with cdkl5 two days ago. We have been on the exact same journey as you and the similarities between these two girls is astounding. When I see your picture profile, I am looking at Avery. She is truly an inspiration for our family, and as I enter into this new community, I am so grateful for all of the stories I read. As this is relatively new to me, the diagnosis of cdkl5, I am in the process of ingesting all that I humanly can and what we can know do to make an impact...I guess I need to start by joining your group and finding out more. How is Leah today. How old is she now? I have so many questions for all families afflicted with this disease. Thank you for allowing me the support that I so very much need now. I hope we can talk soon. Kristin
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