Welcome to our site. I am saddened that we meet this way, but grateful that you have found us. We share similar journeys of how our children have been affected by CDKL5. You will find a lot of support from the families here. Receiving this diagnosis, and then finding this site has helped us in more ways that you can imagine. Speaking, venting, crying, listening, and just knowing that the families here fully understand our every day.
hardships and struggles has helped me every day. I am Lisa and my 13-year-old daughter Alexis has been diagnosed as having deletions of the CDKL5 gene, Atypical Rett Syndrome, Lennox Gastaut Syndrome and deletions of the Xq22.2 gene. We live in New York, USA.
Alexis was born in July, 1996 and appeared to be a normal healthy baby girl. Our journey began when Alexis was only 10 days old with colic symptoms. In October 1996, at the age of 3 months old, Alexis began to have seizures. This is when our lives were turned upside down. Alexis underwent numerous tests and hospitalizations over the years, but we didn’t get the diagnosis of CDKL5 until April 30, 2008 when she was 11 ½ years old! I am not a carrier of the CDKL5 mutation and neither is her father.
Alexis is one of the more severely affected children with CDKL5 and is severely developmentally delayed, functioning at the level of a 6-month-old baby. Alexis has many of the symptoms of CDKL5, such as gastro reflux and requires tube feeding, uncontrolled seizures, no hand skills other than hand wringing and mouthing, hypersensitivity to touch, cortical blindness (to this day we still do not know what Alexis is able to see), small cold feet, laughing and crying spells , poor muscle tone, scoliosis, and autistic traits. She cannot walk and is wheelchair bound. She is unable to speak, but at times will make sounds especially when she is hungry or bored. Alexis lost the ability to show emotion and pain, and we must constantly remind everyone that she can feel everything and they need to be gentle with her.
Because Alexis is dependent on others for her every need, she has lived in a 24-hour residential nursing facility since she was 5 years old. She attends a day program during the week and receives physical, occupational, speech and vision therapies. Alexis spends every weekend at home with her family, which was recently renovated with a handicapped accessible shower and bedroom to suit her needs.
Every day is a struggle with the ongoing care for Alexis, but I am her voice. I learned a long time ago that I can not give up and I must continue to fight for the best care and treatment that Alexis deserves. I will never stop fighting for my daughter.
Finding the CDKL5 support group helped me to face my feelings on this illness. I had a very hard time talking about Alexis being sick until I found this group because no one has ever understood us or what we have gone through. Sometimes it is hard to read the posts because I feel like I am re-living a part of our lives that I thought was behind us, but I know I have to because I hope to be able help some of the other families with our experiences.
Again, welcome to our group. We look forward to hearing about your journey and sharing more of ours with you. Please do not hesitate to share your experiences with us and to ask us about ours. We need each other to support and guide us in our journey as we wait for research and a cure. We are here to help each other, offer advice to each other, encourage each other and educate each other. Each and every one of us has experiences that may help another family in need. Please do not hold back. We want to hear everything you have to offer.