I have procrastinated in writing Aubree’s story for this Spotlight. I enjoy writing and am never hesitant to be involved in anything related to CDKL5 Awareness, but for some reason I kept putting off writing this. As I finally sat down today in the few free moments I have with 3 busy girls 6 and under, I very quickly realized the root of my procrastination. Putting onto paper, or my laptop as it is, the story of how our CDKL5 Deficiency Disorder journey began is hard. Words on the screen explaining how your world came crashing down are heart-wrenching to see and the emotions I felt while experiencing this story in real-time came flooding back just as raw as they were the first time.
Here is Aubree’s Story…
Aubree and her fraternal twin, Abigail, were born on February 25, 2014. They were both perfect in every way with no sign of the storm that was to follow.
On Easter Sunday when Aubree was just 7 weeks and 5 days old, she had her first seizure. It was short, only about 10 seconds long, and the others who saw it that day thought it was just the normal baby twitching they do in their sleep. I, her mother, was holding her when it happened and my mommy instinct told me it wasn’t normal. I called her pediatrician who told me it was likely sleep myoclonus (the normal baby twitches), but to take her to the ER if it happened again and it didn’t seem normal. The following night just before 10:00 p.m., she did it again and this time it was much more obvious it was not “normal” baby twitching. Her back was completely arched, eyes open and fixated, and all of her extremities were rhythmically twitching. I yelled for her dad, Troy, that she was doing it again and we needed to go to the ER. I called my parents who live about 20 miles away and my mom got to our house in record time to stay with Abigail and their older sister Brynlee while we went to the ER with Aubree. I remember my mom hugging me as I broke down as the reality that something could be really wrong overcame me. It would be the first of MANY breakdowns over the first year of Aubree’s life.
When we got to the ER at Blank Children’s Hospital, which is thankfully only about 20 minutes from our house, they very quickly took Aubree to a room to begin assessing her. They started an IV, took blood, did a CT-Scan of her head…and she had 2 more seizures. She was admitted to the hospital so she could be seen by neurology the next day and determine if she really was having seizures.
The following day we met Dr G, a Pediatric Neurologist at Blank, for the first time. Aubree, ever the one to be accommodating, had a seizure while he was talking to us. Dr G had them run a million tests—blood draws, urine catheterization, lumbar puncture, brain MRI— to search for a cause for her yet to be confirmed seizures. These tests all came back normal. Aubree was placed on a video EEG to look at the electrical activity in her brain. When Dr G returned to see us he confirmed what we already knew, Aubree was having seizures. The good news, her brain activity was completely normal between seizures. With everything else being normal, we were told she likely had Benign Epilepsy of Infancy and would outgrow her seizures by age 2. She was started on Keppra, an anti-seizure medication, and we got to take her home after a 5 day stay at Blank Children’s Hospital.
We saw Dr G often. We increased her Keppra. We ran more tests. We still didn’t have a definitive answer for Aubree’s seizures.
At Aubree’s 4 month well-child check with her Pediatrician, Dr L, I voiced concern about Aubree’s eyes not aligning well. Abigail had already outgrown that newborn “cross-eyed” behavior, but we continued to see it in Aubree. He assured us this was normal up to 6 months old but referred us to Pediatric Ophthalmology just to be sure. Other than the obvious seizures, we had no other concerns about her development.
At 6 months when Aubree went to see Dr G we reported some concerns over some delays. She could roll, but was not even close to being able to sit—a skill her twin had mastered at 5 months. At this point we were told that with the addition of some developmental delays, we could no longer say this was a Benign Epilepsy of Infancy and we needed to dig deeper. This meant a referral to the Pediatric Neurology Department at the University of Iowa Children’s Hospital.
When Aubree was 7 months old we took her to see Dr C at the University of Iowa. We instantly loved him. We went over her entire history, including all the tests that had been run in her short life. He did a thorough physical exam. He told us he was going to run the only 2 tests that had not been done—one to rule out a muscular dystrophy and the other, genetics. The muscular dystrophy test would be back within a couple days. Genetics would take 4-6 weeks. Aubree has absolutely zero outward physical signs of a genetic disorder. She is perfect. We, along with Dr C, thought it unlikely anything would come back abnormal on the genetic panel. Relief, but still wary as to what was causing Aubree’s symptoms.
Fast forward to November 13, 2014. I will preface this paragraph by saying as Aubree’s mom my instinct from the beginning of this storm was that there was something “bigger” going on. I listened and I hoped and I outwardly told people “they say it’s probably a benign epilepsy”. Inside I KNEW it wasn’t. I KNEW someday we would learn this wasn’t just some seizures she would outgrow. I KNEW but I was NOT prepared for someone else to tell me this. I do not remember a lot of the conversation I had with Dr C that day. What I do remember is locking myself in the bathroom so my then 2-year old couldn’t get in while I cried, okay bawled, while I spoke to him. That day we learned Aubree has a large deletion on one of her X chromosomes. The very medical way of saying it is a 737kb deletion on Xp22.13 affecting the CDKL5, RS1, PPEF1, PHKA2, and GPR64 genes.
The less medical way—she has CDKL5 Deficiency Disorder. The mom way—my perfect baby will never have the life I dreamed for her.
The following months were a blur. I cried….a lot. I would hold Aubree and cry hysterically because it wasn’t fair for her to get this diagnosis. I would cry for her sisters and how they wouldn’t experience the “normal” sister bond. In the middle of this grief, we lost all control of Aubree’s seizures. We had to pull her from daycare. I had to take an extended personal leave of absence from work to care for her and make arrangements for our future. We added more seizure medications. We had hospitalizations. Our lives were turned upside down.
Many months later our new “normal” began. I started working only weekends in my job as a nurse and Troy worked during the weekdays. This enabled us to pull everyone from daycare which helped tremendously with Aubree’s overall health. We got into a routine of therapies and doctor visits. We had our first trip to the CDKL5 Center of Excellence at Colorado Children’s Hospital. We found a rhythm and life moved forward.
That period of grieving is now a distant fog. What Aubree has taught us all in her 5 years on earth is far more beneficial than any lesson in my 38 years. We know unconditional love. We know acceptance. Our entire family are better humans because of Aubree. She is our middle child and is the center of our family. Because of her we have met some of the most amazing people—doctors, therapists, nurses, fellow CDKL5 parents, and the list goes on. It truly takes a village, and our village is pretty darn amazing.
We continue to chase seizures and they constantly change in type and presentation. We make medication changes. Just before Aubree turned 2, we transferred her neurology care to Dr C. We loved Dr G, but his clinic did not support the use of cannabis products and we needed guidance. We added in cannabis derived oils which have been nothing short of miraculous for her.
Aubree gets therapies at school and through Blank Children’s Hospital. ALL of her teachers and therapists are amazing. We celebrate every inch-stone she achieves. She LOVES school! She will be finishing preschool this month and will start Kindergarten this fall. She loves classical music and Beauty and the Beast. She loves books. Her favorite place is outside with the sunshine on her face. Her favorite person in the entire world is her Grandpa Joe….mom comes in second place. She loves to eat and if she’s hungry she will let you know about it! She likes the window down so the wind can blow in her face when she’s in the car. She doesn’t like shoes and she hates her AFOs! She is constantly complimented on her fiery red hair. She is the Princess and she knows it. She is our love and our light and the world is a better place because of her!
-Kari, Aubree’s Mommy
You can follow them on Facebook at Aubree’s Army