]It’s time for another Cdkl5 Spotlight! Meet birthday girl Baybeblue! Mom, Cynthia, shares about her wonderful daughter and their amazing journey.
Baybeblue was born January 11th, 2007 and was a typical pregnancy and birth. She scored 9 on her apgar because the doctor said he has never given a baby a 10. Now that I look back there were signs that something was different, but I just dismissed them. Blue didn’t make eye contact and never smiled or laughed at me. At 2 1/2 months old she had her first seizure and my life was forever changed. My beautiful baby girl was put on a long list of seizure meds and became almost completely unresponsive to me. I was told she may never walk or talk based on her early onset of seizures.
Baybeblue’s life included daily therapies and doctors appointments. I even traveled to Stanford University twice to get answers, but left discouraged both times. Blue started getting colds that turned to pneumonias and had long hospital stays almost back to back. She switched through so many seizure meds that I lost count. We tried the keto diet, but it was unsuccessful. Blue was still having 80-100 seizures a day.
At one point she developed a condition called hypocalcemia. Doctors were unable to figure out why and were unable to treat it. They exhausted all options and sent her home on a saline diet to constantly flush the calcium out of her body which was now in her bloodstream. We just wanted her to be comfortable as long as she could survive.
I was a single mom and felt completely lost.
They couldn’t give me many answers because no one in the world had this happen before. I decided I wanted to know Blue less sedated before she left me. The keto diet was removed and we slowly weaned one med at a time. To everyone’s surprise, Blue got healthier and the seizures reduced and the hypercalcemia just magically disappeared! She was cured and she was happy. For the first time in her life I saw the real Baybeblue and she smiled at me! She was truly happy.
Blue continued with weekly physical therapy, eye therapy, and a few other therapies until she was 5. It seemed to me that the more I treated Blue like a typical girl the healthier and happier she got. We acted as a normal family and took her camping and to the beach and we learned that she loves being free in water the most. Her neck float allowed her to feel free and she could swim all around by herself. She also loves music and starred in her own music video for her Make-A-Wish!
After her Wish I realized how much Blue loved to be a star and I sought out a dance studio that would be willing to work with her. We found one and Blue began dance lessons. It was the most beautiful amazing experience I’ve ever had in my life! Watching her enjoy her life and enjoy being alive was all I ever wanted for her. She made friends and memories and has blown everyone away with her progress. She also started watching live pearl shows about a year ago and she absolutely loves it. Pearl Allure has become a huge part of her life. She collects real pearls from oysters and lights up when her show is on.
We didn’t receive Baybeblue’s diagnosis until she was 9 years old.
Due to her hypocalcemia her bones became extremely brittle and began to break from her seizures. She was hospitalized due to the desperate need to either make her bones stronger or stop the seizures to prevent further breaks. A genetic test panel had just coincidentally become available to us because it was finally covered by insurance. They asked me if i was interested in giving it a try since one of the tests on the panel was a condition I had brought up when she was 3 – Cdkl5 Disorder. I had seen a girl on the internet and she just reminded me so much of Blue that I had asked the doctors if they thought she might have Cdkl5 Disorder.
It was so rare years ago that we couldn’t afford the test for it because it wasn’t covered by insurance. In the meantime I had convinced myself that there must have been a lack of oxygen or another reason for Blue’s challenges. I had accepted that I would never know why. A few weeks went by and I received a phone call from Blue’s neurologist himself. He said he wanted to be the one to tell me that she had tested positive for Cdkl5 Disorder. The world stopped in that moment. There was nothing I did wrong or the doctor did wrong, there was no mistakes…it wasn’t an accident.
Baybeblue was a perfectly perfect child with CDKL5.
I never knew how much peace a diagnosis could bring. I instantly had answers and a community and a place where we belonged. I knew how and why and understood Blue better than I ever had before and I began looking at her symptoms as her characteristics instead. There was nothing wrong with her. This was exactly how she was supposed to be. My efforts to try and improve her downfalls turned into exaggerating her good qualities. Our goal was now to increase quality of life and celebrate every part of who she is.
The next goal to protect her bones brought on a new idea. They told me as she grew bigger her bones would break more and more and getting calcium back in her bones would be impossible. I gathered my information and presented the doctors with the idea of growth attenuation. The theory was that if her bones weren’t growing longer then maybe they would grow stronger and denser. Several endocrinologists and a hearing up against the hospital and the ethics committee resulted in them agreeing to the treatment. Blue started growth attenuation treatment 2 years ago and completed it in a year and a half. She has not had a broken bone since she began the treatment years ago and is absolutely thriving! The growth stunting was the best thing I ever did for her future. She is full grown at 11 years old. 4 ft tall and 40 lbs.
Currently I use cbd treatment which helps more than anything else ever has. I also use essential oils on her and she gets acupuncture and chinese realignment regularly. She eats a diet of Nourish plant based all organic gluten free food and drinks only Fiji water which has increased her alertness. Besides Cdkl5 I would consider her totally healthy with no hospital stays in over 2 years! My biggest fear in life used to be that she would leave me. Now I’m starting to truly think she could outlive me!
She is my rock and my inspiration for everything. She has friends all over the world that follow her story and have been inspired by her.
The community that came along with this diagnosis has meant the world to me. I have grown attached to Blue’s Cdkl5 brothers and sisters and love following all there stories. I’m am so grateful for all I have learned from the other Cdkl5 parents. I hope Blue’s story can inspire others to follow their heart and find their own path through Cdkl5 Disorder. There is no perfect way to do this, only what is right for you and your child. My advice to other parents who recently received this diagnoses is to reach out. Connect with other Cdkl5 families and ask every question you have. No question is silly and you never know, one answer could change your life. Do your own research and don’t hesitate to speak up to advocate for your child. You know your child better than anyone!
The diagnosis of CDKL5 for us was not a life sentence but the greatest gift of all.
You can follow Baybeblue’s journey on her Facebook page Baybeblue Battling CDKL5