Time for a CDKL5 child Spotlight! Everyone meet Miss Sonzee! Thank you to Mama, Randi Zaila, for sharing about your brave little beauty!
Sonzee was diagnosed on April 16, 2015 when she was only 64 days old and is one of the youngest to be diagnosed with CDKL5. While it was over 3 years ago, the moment is etched in my mind, so it feels like it was only yesterday. We thought having a diagnosis at such an early age would put her at an advantage. She started out with physical therapy, aquatic therapy, vision therapy, direct service intervention, and being that I am a speech language pathologist, daily speech therapy. She also took part in unique therapies such as the Anat Baniel Method as well as “Movement Lessons with Michelle Turner”.
When Sonzee turned 11 months she was diagnosed with infantile spasms and was given the official diagnosis of Failure to Thrive. Following her first birthday she had a g-tube placed to potentially help her gain weight, she was also on the ketogenic diet, and began what would be a 2-month stint of high dose steroids (on top of her daily seizure medications).
By the time she was 15 months we had weaned her from the ketogenic diet, she had a temporary reprieve from the Infantile Spasms, but her feeing issues worsened to the point where she spent 28 days in the hospital and was on Total Parenteral Nutrition (TPN) and a Naso-Jejunal (NJ) tube. She finally was able to gain weight, however, due to the medical complexities her therapies fell to the wayside and she continued to struggle to gain skills.
By the time Sonzee was 2.5, our priorities for Sonzee shifted and we focused solely on what she truly enjoyed. We stopped spending so much time focusing on therapies and spent more time letting her enjoy her siblings, family, and her favorite things; which include sitting outside feeling the breeze, being in the water, laying on her playmat, bouncing in a bouncy seat, and playing with her hands. She currently attends the Foundation for Blind Children and she receives physical therapy, occupational therapy, speech therapy, and vision services throughout the week during school. We have her enrolled in a private swim class that she attends weekly and loves.
We have learned so much from Sonzee’s CDKL5 diagnosis.
We try not to sweat the small stuff and we try to treasure every moment. We know there are no guarantees in life with any of our children, and while we do not harp on the possibility of living life without Sonzee. The reality is that CDKL5 is life limiting and so we treat each day as if it would be her last and we make the most of it in the best ways possible. We treat her like all our children having her take part in family activities, holding her accountable for the actions she can control and giving her a lot of love.
If I have any advice to give to parents of newly diagnosed children, it would be to get to know what your child truly loves. While we want our children to walk, talk, live independently, and be a functioning member of society, we must remember that all those things may not be in the cards AND THAT IS OKAY.
Help your child to TELL HIS OR HER OWN STORY.
Grieve for the child you expected but accept the child that you have. There will be good days and there will be bad days. The journey you are embarking on is a never-ending roller coaster filled with the highest of highs and lowest of lows but there is a remarkable support system that the CDKL5 community has built. In the end what is most important is that your child lives his or her best life possible.
Follow Sonzee and crew on Facebook at Sonya’s Story CDKL5!