Meet Savanah, our CDKL5 November spotlight! Mom, Kelli, shares her story!
Savannah Maeve Taylor was born on October 23rd, 2016. She is my third child and we were so excited that I was finally having a girl. I’m in the skincare industry and I envisioned many spa days and shopping trips with my little girl. Envisioned dressing her up in dresses that she could twirl in. I envisioned watching her every move during teenage years and protecting her from every evil in the world. Little did I know at the time that Savannah would change our entire world and my visions of having a daughter would be a little bit different.
At about six weeks old Savannah started having seizures. I wasn’t too worried at first because I know I had gotten all the genetic testing and I just figured they were some sort of a reaction to her formula or something. Boy was I wrong.
It took almost a year to finally get a diagnosis from the doctors because we had to catch her having a seizure on an EEG which was very hard to plan out but that was what was necessary in order to receive a diagnosis. Once you received the diagnosis, that is what qualified you to get genetic testing paid by insurance.
Once we received the genetic testing, the results came back showing that she had what’s called a cdkl5 deficiency disorder.
CDKL5 deficiency disorder is a rare neurodevelopmental disease caused by mutations in the CDKL5 gene which can manifest in a broad range of clinical symptoms and severity, though the hallmarks are early-onset, intractable epilepsy and neurodevelopmental delay impacting cognitive, motor, speech, and visual function. Once the doctors told us about her disorder, I remember looking it up online and I couldn’t believe how severe handicaps would be. I was so sad because I knew that my daughter may never talk and she may never walk. Let alone all the other things that I anticipated her accomplishing in her life.
Savannah has seizures daily, many of them require a rescue medication because the seizures last almost 5 minutes long. She cannot see very much at this time, although as she develops she may develop some visual capability. We have been in and out of the hospital since she was born because of her epilepsy complications and the side effects of different treatment routes. She is medically fragile and any time she gets sick she has to be hospitalized. I can only work part-time now, and I have to work for myself because her demands are very unpredictable which makes it near impossible to hold down a typical schedule. She receives all public aid services, insurance, and the state pays for in-home nursing help for her. In order to keep all of her medical funding, I need to stay within a very low-income bracket. She will begin receiving services at a therapeutic day preschool as she approaches her third birthday this month.
She has been receiving early intervention services since she was 6 months old including physical therapy, occupational therapy, feeding therapy, speech therapy, developmental therapy, vision therapy, and social work for years.
Although she has her struggles, Savannah is the light of our lives. She inspires such a joyful energy anywhere she goes. She is stunningly beautiful. She giggles and kicks and lights up a room. She has taught us patience, understanding, and has given us an entirely different perspective on life. Her love is the purest thing on Earth. I know I’ll never have to worry about protecting her from the evil in this world because it doesn’t affect her, she is an earth angel. We may never get a spa day, but I will definitely paint her toenails. I can dress her up in a beautiful dress and hope one day she can twirl in it. She may never have a boyfriend that I’ll have to scare off, and I’m okay with that. I will never leave her side and she will never leave mine. When she is 18 she will not take off into the world she will always be with me. She is my world.