CDKL5 and Us

Here is a video on the rare devistating disorder our daughter suffers from. CDKL5 is such a new diagnosis the name is named after the gene that has the mutation. It is commonly linked with Rett syndrome.
CDKL5 can cause seizures, global delays, visual impairments, lack of communication skills, minimal if any hand control, etc.
Help us fight against CDKL5 by helping us raise money to start much needed research to stop CDKL5 in its tracks!
Song is "Your Hands" by JJ Heller

Category:

People & Blogs

Tags:

• CDKL5
• Rett syndrome
• seizures
• special needs
• LilyAnna Blu
• Lily your
• hands
• jj
• heller

[kerstinlena1]

Beautiful video and song. My daughter, Lena, is still being tested for CDKL5. She tested positive for a mutation with mecp2 for Rett Syndrome... but her rett doctor has a hunch she's cdkl5. Don't understand how this test can take so long. Was taken in October 2010 (saliva). Hugs to your family... love to see such warmth and caring :)

[kymmee19]

@kerstinlena1 - thanks for commenting and watching! Did Lena's test come back? That is interesting that she has a mecp2 mutation and the Drs also feel she could have a cdkl5 mutation as well? how fascinating! are you by chance on our facebook support group? if you are interested contact me at knothdurft at gmail dot com

[RockyRacoonMom]

What a beautiful song. God gave Lilly the best parents in the world. May you help find the cure. My prayers are with all of you.

[kymmee19]

@RockyRacoonMom - thank you !

[kymmee19]

@xxxAlphaxxx5 - we are unsure. in my opinion lily is every bit a 9 year old girl, but she has extreme apraxia that makes each movement incredibly hard, and at times impossible. That makes speaking so hard as well. I do not know her IQ, but I treat her as if she is just every bit a perfect 9 yr old girl in a body that won't work with her



[kymmee19]

@ctysmmy - Hi! Are you a part of our facebook private group for cdkl5? I am so glad to hear you found seizure control! what wonderful news! what we have found is that every kids with cdkl5 is so different!

[kymmee19]

@ceylin2010 - thanks for watching! are you a part of our facebook cdkl5 group?

[kymmee19]

@TheShasiti of course i was afraid, but i choose to not live a fear driven life. while i am sure chemicals and dyes could cause issues, i do not feel they are what caused a gene to not develop correctly. thank you for watching :)

[kymmee19]

@Kaydonette - Hi! Thank you for your comment! How did the appointment go? Were they willing to test? We have a facebook support group that has members whose children have yet to be dx but have symptoms. If you are interested please contact me knothdurft at gmail

[kymmee19]

@LeeAnn26852 - Hi! I'm glad you found my video! Just so you know we have a facebook support group for parents of kids with CDKL5! If you are interested in the link please email me at knothdurft at gmail dot com :) (oh and all our kids seems to sit with their legs crossed! it is the cutest thing)

[LeeAnn26852]

Thank you so much for sharing your story. I have a 21 year old son Zachery that was finally diagnosed at 17 years of age with CDKL-5. Our special children are so similar, but the thing that stood out and brought a smile to may face is that Lilly and Zach both cross their legs!! We call Zach pretzel boy! Our stories are incredibly similar....Thanks again for making people aware of the daily struggles our children endure every second of the day. You have a beautiful family.

[Kaydonette]

Thank you for sharing this video, We have been searching for 6 years for i Dx for our daughter. She has almost every symptom of CDKL5. We have a Drs. appt. on the 23rd and i will be asking for her to be tested for CDKL5!!!