CDKL5 Spotlight on Rian

Meet Rian! Rian is 2 years old this month! Mom, Danielle, shares about her sweet daughter.

What are some things you do at home to help your child?

Rian loves music so we often sing to her. When she was an infant we played jazz music for her all the time and we would get lots of smiles! For some reason, she loves Laurie Berkner and the Wheels on the Bus song. It’s like instant calming for her when she needs to reset herself.

We also have a swing outside for her when it’s nice out which she loves, but with winters in the northeast, one of our therapists showed us how to create a little hammock swing out of a blanket that we can use really quick for her. She loves it! As soon as we lay her down in the blanket or step out in the garage to go to her swing, we get an instant smile from her and little giggles! Making sure Rian is comfortable and happy is what matters the most to us, so we are always brainstorming ideas on what we can do at home to make sure she is happy.

What sort of therapies has your child done/responded to best?

Rian currently has Physical Therapy, Special Education, Feeding/Speech, OT, and Vision Therapy. She has responded very well to PT and Special Education. She started PT and Special Education therapy at 5 months through the Early Intervention program. She has achieved so much since then. Her therapists really push Rian and it has helped her tremendously on reaching her goals that we never thought she’d be able to achieve. I can honestly say that her therapists are the most compassionate people I have ever met and Rian responds to them so well. Even through our teletherapy sessions, Rian reaches out to them and smiles when hearing their voices.

How do her accomplishments make you feel as a parent?

Hopeful and filled with so much joy! We have learned that with this disorder that there can be many setbacks and we are prepared for that, but seeing Rian reach these ‘inchstones’ makes us feel hopeful that she can keep reaching towards more goals. Every time she moves closer and closer to a new goal we get more and more hopeful that she will achieve it. She is proving that there is no stopping her even with CDKL5.

What is your overall perspective of your child’s diagnosis?

CDKL5 is a disorder with so many UNKNOWNS. We were thrown into this unknown world when Rian started having seizures, and still to this day we are trying to find our ‘new normal’. When we think about this diagnosis, and how it affects Rian, everything just feels heartbreaking. To see your daughter struggle through a seizure, when you have no way of helping her, to see your child try so hard in therapy but not get to where she needs to be, to see her cry when she’s in pain and you try so hard to figure out where that pain comes from because she is non-verbal, to see her put through the multiple EEGs, but then find nothing, it HURTS. But then it goes away because you realize that you have this beautiful child who you love so much and would do anything for.

Do you have any advice for parents of kids that were recently diagnosed?

Advocate! Be your child’s voice! You know your child best, so listen to your gut instinct. I can honestly say there were multiple times where I did not listen to my gut in the beginning and should have because Rian would have ended up getting better care earlier on.

See past the label of the diagnosis, it does not define your child. Rian has done so much in the past year that we thought she never would because of what we knew and were told about CDKL5. Join a CDKL5 support group! It has been so helpful learning about this diagnosis and how it affects each child differently. You may never meet these people, but you feel as though you have a special connection with them because we are all going through the same thing.

Lastly, try to get your child into therapy as soon as possible, do not wait. Therapy has been the best thing for Rian and starting her at such a young age I think has truly helped her get to where she is today.

You can follow Rian’s story on her Facebook page “Rally 4 Rian – CDKL5