CDKL5 Spotlight on Olivia

Meet Olivia! She will soon turn One! Mom, Nicole, shares about her sweet daughter.

On the morning of November 26, 2019, when Olivia was just 8 weeks old, I was resting on my bed watching her sleep. She had been restless the prior night so I wanted to lay with her to try and ensure she got the proper rest. My husband Billy was already at work and our son Will had just left on an adventure with his nanny. About 15 minutes after Olivia fell asleep she started to shake rapidly from head to toe, all her muscles tensed up, her face turned beat red, her breathing became extremely short… I thought she was going to die.

I quickly picked her up in my hands, I thought she wasn’t getting enough air so I started CPR (not what I was supposed to do and not knowing what was happening my Mother’s intuition had me start with the proper child CPR), I quickly then dialed 911 as I did 2 breaths and compressions on our daughter Liv. Just about a minute later she went limp, completely limp, and became super pale. The emergency dispatcher advised to stay with her and make sure she was safe, the paramedics were on their way and to put away any animals and open the doors so they can get in. I tried to focus on what they were saying all while trying to make sure Olivia did not die, I continuously told Olivia “stay with us baby girl, don’t die.”

The paramedics and firemen quickly arrived as I was making the frantic call to my husband to return home.

They advised Billy to drive safely and Olivia was in good hands. We were rushed to the closest hospital and at that time her color had returned to her cheeks and she was wide awake. Upon arrival, the doctor began a round of tests (blood panel, Urine panel, CT scan of her head, and a chest x-ray) that all came out clear.

After being in the ER for a little over an hour, Liv fell asleep in my arms on the ER bed. She then began to have her second seizure. I yelled for the doctor and the staff all rushed in, they confirmed indeed it was a seizure. They started her on medication and transferred us to the Pediatric ICU. We stayed there for several days as they ran additional tests, the only thing that came back positive was the Rhino Virus which is a strain of a common cold. The pediatric neurologist suggested the seizures could be caused by the virus and her being so young and little. They decided to release her home on seizure medicine for 10 days as the virus ran its course. We had never thought in a million years we would ever have to witness our 8-week old daughter go through so much, so soon. We didn’t realize that was just the beginning of the real culprit and her lifelong fight with CDKL5 Deficiency Disorder.

The seizures persisted so they increased her medication then added a secondary med on top of that. They had her readmitted and we then decided to agree to additional testing that included much more invasive procedures, additional EEG’s, a Spinal Tap, and an MRI. Initially, they all came back clear. Thereafter, the second long visitation we were referred to the neurology department at another hospital, where we stayed for about 4 days while Olivia went through even more Blood tests, EEGs, and another Spinal Tap.

Based on the second spinal tap results the doctors then thought she had Glut1 Deficiency Disorder which could be rectified by the keto diet. All we needed to confirm the diagnosis was the results from the epilepsy genetic panel test she had done weeks prior. We luckily were able to go home the day before Christmas while we waited for the test results, we were so thankful to be able to celebrate the holiday at home.

We opted to wait for the genetic results to come back before being admitted to start the keto diet, as we wanted to make certain we were making the right decision for Olivia.

The results came back on Friday 1/10, it was a phone call I’ll never forget. The neurologist who initially saw Olivia was the one to order the genetic test so the results came from him. He left me with this “It’s not what we originally thought, it’s something I have never heard of before, it’s called CDKL5 Deficiency Disorder.” Over the weekend we were left to the infamous Google. Thankfully, I found a wonderful CDKL5 website along with a mother who is local and guided me to a support group on Facebook which became my lifeline of information.

The more I researched, the more and more I felt mortified and devastated at our daughter’s diagnosis. The endless thoughts of “what did I do?” “Could I have done something differently?” “Was this my fault?” etc was hard on my heart, emotionally, and mind as well. However, I had to stay strong for our daughter and family. In most cases this disorder is what they call de novo, meaning it was a random mutation that didn’t come from either parent. There is nothing we could have done to prevent it. Just to be sure, we both got tested for the gene and both came back negative.

We have since been on an extreme journey to find the best therapies, all possible treatments, and research studies overturning every possible rock and boulders for our sweet baby girl. We, unfortunately, haven’t yet found the right combination of meds that will stop her seizures, as she has 2-3 per day, but from what I have read it’s usually forever revolving as the seizures types tend to change.

There is a vast spectrum of severity with CDKL5 and we won’t really know where Olivia falls on the spectrum for a few years.

There are various symptoms of CDKL5, the most prominent is seizures, but also includes mental and physical delays: some don’t walk, some don’t talk. As of now, Olivia has daily nocturnal seizures (literally seizures in her sleep) which she can spit up or vomit during or have something called SUDEP (sudden unexpected death during epilepsy) so yes… I’m tired cause I sleep with one eye open. She has signs of Cortical Vision Impairment (CVI), which means her brain and eyes don’t make the proper connection to identify what she is seeing, so when she looks at something she may look at it through the corner of her eye because peripheral vision develops first. She has the tendency to look down a lot because it’s hard for her to see when her body is working so hard to do other things like sit up, and she doesn’t make eye contact or track items well, however, she does love light which is wonderful to see and a beautiful smile that lights up the room. She has physical motor delays, she doesn’t bear weight on her arms, she isn’t able to sit up on her own yet, she has a hard time reaching and grabbing objects and can’t bring objects to her mouth.

We do several different types of therapies a day and incorporate it into our daily activities/routines. Will is an amazing big brother and helps all the time. We find it brings them closer together as siblings, they share some powerful moments. Our daughter brings a special light to our whole family we didn’t even know we needed. We are so blessed in many ways.

To the parents of children newly diagnosed, you can do this!

At times you will feel defeated, you will be bogged down with endless paper trails, therapies, appointments, research, but don’t forget to enjoy your child. Enjoy each and every second. Make therapies and learning fun and playful. Don’t deprive them of the one thing that we are all fighting for, their health (mental as well) and happiness. Endless cuddles and snuggles, it’s good for the both of you. Life is precious and no one journey is the same. Don’t ever allow anyone to tell you your child can’t do something, take them to that birthday party, take them to that sporting event or book reading, and if you have to leave early or excuse yourself because they had a bad seizure and threw up so be it. Clean them up, comfort them, and get back to enjoying the things you were before. Don’t let this disorder stop you and your child from living life to the fullest.

We are so thankful to the parents and children of CDKL5 before us who have paved the way. We will never stop looking for a cure. At the same time, this disorder does not define her, she defines it. Thanks for reading and please educate your friends and family, especially your children who make up the community Olivia will grow up in.