CDKL5

 

After 5 months of searching we finally have a diagnosis. 

CDKL5, aka CDKL5 Deficiency Disorder (CDD). A rare genetic mutation on both boys CDKL5 gene. The uncontrolled seizures, GI issues, Cortical visual impairment, global developmental delays can now all be explained by their genetic mutation. I don’t have the words to express how awful this is to learn. There is no cure. Many of those diagnosed with CDKL5 will never walk, or talk, some will never sit unassisted, and it seems boys are affected more severely- only time will tell us how severely the twins are impacted.

So now what? Therapy is our best shot at getting these boys mobile – to me the more mobile they are the better the quality of life, not only for them but also for our family. They are in physical therapy 2 times a week, and vision therapy 1 time a week. We are working to get the boys into Occupational and Speech therapy. I have been researching about intensive therapies that are available and hope to take the boys to a Napa Intensive Therapy in the next year. 

Our current neurologist here in Florida wants to treat the seizures more aggressively than we would like so we are looking into CBD oil, the Ketogenic diet. She has also never worked with a patient that has CDD so as a parent it is hard taking advice from someone with no experience. Which brings me to where we are now- Prior to our diagnosis we were trying to get the boys into Boston Children's Hospital. We were in the process of having their files reviewed by the Brain Development and Genetics Clinic but then we got their genetic test results. Thankfully Boston Children's has a CDKL5 Center of Excellence and the took us right in. 

Derrick, the twins and I are traveling to Boston Children’s Hospital to see a team of doctors at their CDKL5 clinic on October 20th. While there we will talk with a genetic counselor about their mutation. We will also meet with a neurologist that specializes in CDKL5,  Dr. Heather Olson.

Everyone asks how I'm doing. I really hate that question- because how would you expect someone to be that just found out her beautiful boys might never speak, sit up or walk? I am devastated by this, truly heartbroken. I'm grieving a life I envisioned. But we are ok. We are determined to give them the best life possible.  We are hopeful and will continue to live the life we were living before the boys were diagnosed. We have two other children that count on us and they deserve the best- we all do. 

I am going to start writing about our journey to keep friends and family posted, but also to raise awareness. So many things could have been done differently along the way that ultimately delayed our diagnosis. But that story is for another day.

We are praying for two miracles and hoping you all continue to keep them in your prayers.

-Ashley Klein