CDKL5 Spotlight on Noah

It’s time for another CDKL5 Spotlight! Meet Noah from Tennessee! Mom, Jennifer, shares about her precious boy!

Noah was a huge surprise to our family. We thought we were done after my daughter, Addison, was born due to severe complications I had after her birth. Noah was born on a beautiful October morning, with no complications to him or myself. He registered high Apgar scores and I had a perfectly healthy pregnancy and ultrasounds.

Noah was 3 weeks old when I noticed the first visible seizure. I work in the medical field, so I was able to pick it up quickly and get him straight to the pediatric ER in my home town. I was very frustrated at the answers we were getting from the medical staff, basically they had no idea why he was having seizures because all testing was normal. After a month of ER visits and admits, my husband and I decided to find another neurologist that would listen to our concerns. Noah was almost 2 months old when we sent in blood work for genetic testing of seizure conditions.

His diagnosis day was January 3, 2018. His neurologist came into the hospital room and sat down with a solemn look on his face. He then gave us the diagnosis and cried with us. We were glad to have an answer, but not CDKL5, in which there was no cure. At that point we felt like we had the rug pulled out from under us and that we all would have a difficult life navigating all that CDD entailed. We knew that it affected boys more profoundly than girls, and we could already see that Noah was not hitting milestones.

Noah is now 22 months old and even though our daily lives can be a huge struggle, we wouldn’t trade him for anything. My husband and I both work full time jobs as well as taking care of Noah when we get home. We have an amazing babysitter, who loves Noah as if he was part of her family. We try to make our lives as normal as possible, for not only Noah, but our 6-year-old daughter. Normalcy is very difficult with CDD, because when a seizure hits you have to stop anything you are doing to be there with your child. We have had long bouts of seizure freedom, but every day we are on edge for when the next shoe is going to drop.

Noah is currently associated with our Tennessee Early Intervention System that provides 4 therapies a week until he turns 3 years of age. He gets Developmental, Speech, Physical and Occupational. We have seen inch-stones with each therapy session and make lifelong friends in the process. Every new thing we find that Noah can do we celebrate because these inch-stones are as wonderful as the milestones in other children. Our babysitter is wonderful to incorporate what we do in therapy at home with Noah on days he does not have therapy sessions. We have lots of noise making toys and adaptive equipment such as a stander to help get him any forward development that we can.

We found out early on that private insurance through my employment, was not going to be very helpful at all for any of the things my son needed.

If you are healthy our insurance is great, but if you are not, then you must fight and fight daily for coverage. Our current private insurance does not cover the hospital his neurologist is on staff at or one of his medications because it is a compounded medication. We have to fill out lots of paperwork every 6 months so that they will hopefully approve and cover as an in-network coverage. Our insurance also does not pay for therapies, adaptive equipment, or any nursing/home health.

This past general session of our Tennessee Legislation, a group of families with special needs children fought our government for a Katie Beckett waiver. All other states in the U.S. have a waiver of some sort that helps working families with special needs children. We were one of the 10 families that were in the spotlight in our state in our newspapers, on the new channels, sending emails, making calls, making flyers about our son, and meeting in person with our legislators. It was a battle we were not sure we would win because of the opposition. We believe that what helped us get this legislation passed was the fact that we made them look us and our children in the eye when we told them our story and our struggles. It is very hard for someone not to feel compassionate about your child and situation if they do not see firsthand what your daily life entails.

Noah had a seizure with every lawmaker we met with this past February. They were able to see what CDD looks like on a daily basis. Our local lawmakers fought hard for our families throughout the general assembly. I do believe, without their full support, we would not have passed this bill this year in the state of Tennessee. We still have a ways to go in eligibility and division of monies with the program, but we feel so much better about being able to stay in the state of Tennessee and not having to move to get more help for our son.

We still have a hard time coming to terms with Noah’s CDD diagnosis, but we love him fiercely. We will fight for him always to make sure he has all of his needs met. Our advice for parents of children recently diagnosed is, YOU ARE NOT ALONE. Please sign up for the Facebook groups. They have helped us tremendously when we have felt there was no more hope for Noah’s future. You love your child the same, whether they are neuro typical or not. Our children just pose a difficulty in a different way compared to neuro typical children.

Jennifer Ledford, O.D.