Living With… CDKL5

Hello! My name is Lily and I am 9 years old. When I was just 3 week old, I had the first of many seizures. As I grew, I didn’t complete my developmental milestones on a typical timeline. It took until I was 6 years old to find out that I had CDKL5 (cyclin-dependent kinase-like 5). CDKL5 is a rare X-linked genetic disorder that results in early onset, difficult to control seizures, and severe neuro-developmental impairment (per http://www.cdkl5.com/About-CDKL5/Default.aspx)

I have seizures every day, but that doesn’t stop me from living my life. Each task I complete during the day is a real chore, but I do it! In addition to daily seizures, I also have Apraxia which makes it hard for my brain to tell my muscle what to do to complete a task like picking up an object. My mom went nuts when I was 7 years old and sat up on my own from a laying down position! Even though I have challenges moving my body, my favorite subjects in school are adaptive PE (physical education) and art. My mom says just by smiling each day even though I have to deal with a lot is an inspiration. She also says they way I work in all my therapies is inspiring.

My life is made easier by my adaptive equipment. I use my wheelchair to go to school. And sometimes when I go places with my family on weekends and vacations, we use my Convaid Crusier. We also have a Bath Chair which helps keep me positioned to make it easier on my parents and more comfortable for me. I also have a Tumble Forms Carrie Seat that I use in our sport ranger! It’s also the same seat that I use on airplanes!

I recently got an Ipad. I figured out on my own that I can use my nose to activate it! I love to use it with my sister. When it’s time to chill out, my Special Tomato Soft-Touch Sitter is the perfect option for me!

Even though adaptive equipment is necessary for me, I wouldn’t be able to do everything that I do without all of the people in my life that help me! I have lots of therapists, teachers and home health care people that have been with me each step of the way! All of these people, and especially my family, have shown me love from an early age. My siblings, Andi Jane and Oliver are the best little sister and brother a girl could ask for. The love me unconditionally, play with me, and answer people’s questions about me. Andi Jane is the best little “big” sister ever!

We asked Lily’s Mom, Kim, some questions:

Question: What was your reaction when you found out about Lily’s diagnosis of CDKL5?

“Tears. Lots of tears. But also lots of prayer. Lots of determination to find treatment. Hopefully a cure.”

Question: How have you changed your life to incorporate your daughter?

”Well Lily is our first born so we adapted our lives for her, I learned the ropes real quick on advocating, finding the best doctors, treatments, we adapted our home, our vehicle, our hearts. We changed everything on a dime when we knew Lily would need from us things we never expected from a “typical” child to need. I am also now on the board for IFCR (International Foundation for CDKL5 Research) we are a group of mothers trying to change the future of this nasty disorder.”

Question: What is the most rewarding part of having a child with special needs?

“Oh my gosh, so many! Lily has opened a whole new world to us! I grew up with a wonderful brother with CP so I knew all about special needs and adaptive lives, but being a mom to a child with special needs is a whole different story. You learn that a smile is better than an A on a test. You learn that rolling over at a year is more exciting than first steps. You learn that watching your child overcome obstacles that you didn’t think possible will fill you with more joy than you ever expected. I started a blog about Lily when she was just a baby and I would get messages from people all over the world saying thank you for your honesty, thank you for sharing Lily’s story, people praying for her, etc. It has been a huge reward knowing sharing our journey has helped other parents along the way.”

Please share any additional information that you would like us to include about your daughter.

“Lily is beautiful, funny, sweet and sensitive. She is loved by so many and I would never change a thing about her or our journey with her. Just by Lily being Lily she teaches compassion, shows love, captures hearts and can change the world. I just know I could never teach Lily the things she has taught us.”