Meet Lily! She is a social butterfly whose smile lights up the room, and she loves to make people laugh. In fact, she gives a hilarious eyebrow raise whenever she thinks anyone is crazy! Read the interview with Lily's mother down below to learn about Lily's CDKL5 diagnosis, her love for school, and more!
1. To start off, can you tell me a little bit about Lily?
LilyAnna is 18 years old with CDD (CDKL5 deficiency disorder), which is a rare genetic neurological disorder. She had her first seizure at 3 weeks old and never developed with typical milestones, but it wasn’t until she was 6 that we got the diagnosis of CDD. She is severely delayed in all areas and struggles with epilepsy; however, she loves to eat (especially sweets!), loves to laugh at her family members, and gives a hilarious eyebrow raise whenever she thinks we’re crazy!
2. Can you tell me more about CDKL5 deficiency disorder?
Epilepsy is a huge challenge with CDD. We’ve tried everything: implanted devices, brain surgery, diets, just about every medication possible, herb, and supplements just to name a few. Name it and we have tried it. Movement is also a huge struggle for her. She has apraxia and every single movement she is able to make is extremely hard for her to make. She is also non verbal and her lack of communication can be frustrating for her and us.
3. What is Lily's day to day life like?
Lily is in an inclusive classroom with a wonderful teacher! She usually goes to school all day; however, due to the pandemic, she lost school for most of the year and we aren’t sure when she will
return :( She loves school, and losing that socialization has been really hard for her. She has physical and occupational therapy at home too and we work with her with stretches because she can get stiff. She sees several medical specialists and our schedule is pretty full with all the special people in her life who help make her life manageable!
4. What would surprise people the most about Lily?
Lily has a great sense of humor! She laughs at all the right times and even the very inappropriate times, which shows she really fits in with our family :)
5. When someone meets Lily for the first time, what do you hope they think?
I hope they think she is a bright young woman and talk to her as so.
6. What are some of Lily's hobbies? What is her personality like?
Lily is quiet and laid back, loves movies and sugary sweets, and laughs and makes noises whenever the room is quiet! She has her favorite people and can tell more with one eyebrow raise than most people can with all of their words.
7. What is the most important thing for someone to understand about Lily?
Everything she does takes full effort and intention. If she is tired she can’t communicate. It’s never a lack of her not wanting. Everything she does takes a lot of effort.
8. What is a recent accomplishment/ milestone of Lily?
At 18, Lily recently started raising her right arm in the air. She was never able to do this and we all get a kick out of it when she does it!
9. Are there any resources which you recommend if anyone wants to learn more about CDKL5 deficiency disorder?
CDKL5.com is a wealth of knowledge which educates others about CDKL5!
10. If you or Lily could tell the world one thing, what would it be?
Don’t sweat the small stuff!