This February 28th, we at SOPHiA GENETICS can’t help but feel a profound sense of connection with those living with rare diseases. Rare Disease Day isn’t just about raising awareness – it’s about celebrating the incredible individuals who have touched our lives in ways we could never have imagined. Despite facing immense challenges, these real-life superheroes have shown us the true meaning of strength and resilience. By sharing their stories, we hope to inspire others to join us in supporting and celebrating their lives.
Today, we’re honored to share the story of one of our own at SOPHiA GENETICS. One of our colleagues, Ragen, has a dear family friend, Brooklynn, who lives with a rare CDKL5 deficiency disorder. Brooklynn is a beacon of positivity, touching the lives of all who know her. At just 8 years old, she’s a true superhero who inspires those around her with her infectious smile and unwavering spirit. Supported by a loving network of family and friends, Brooklynn lives life to the fullest, bringing joy and happiness to all who cross her path.
“I am part of #BrooklynnsCrew – we have matching t-shirts and support Brooklynn to live a happy life with a rare disease.”
Brooklynn’s rare disease story started when she had her first seizure at 2 months old. The doctors at the ER and the family pediatrician weren’t concerned and said that she had myoclonic jerks that she would soon grow out of. Not satisfied with this assessment, her family managed to record a few seconds of one of Brooklynn’s seizures for another opinion from a neurologist.
The neurologist ordered EEGs, a pH probe procedure, x-rays with barium, a semi-MRI, and an overnight EEG to try and get to the root of the problem. The overnight EEG indeed detected a seizure, and so Brooklynn was started on levetiracetam to manage the seizures. She was seizure free for a month, before another seizure sparked a dose increase, and the same happened after another and another month. Brooklynn ended up receiving the highest possible dose of levetiracetam before an epilepsy specialist switched her to oxcarbazepine.
At this point in their patient journey, Brooklynn’s family saw a geneticist who recommended that when her seizures could no longer be controlled by medication, that they could do genetic testing. Not wanting to wait until the seizures got increasingly worse, Brooklynn’s family requested genetic testing be done straight away. Brooklynn’s exome was sequenced and at 9 months old, she received a diagnosis of CDKL5 Deficiency Disorder.
“Brooklynn’s sister, Madison, is a volleyball player, whose team wears #BrooklynnsCrew shirts for warmups at local and out of state tournaments to show support and help spread awareness.”
Brooklynn’s family discovered that her CDKL5 mutation is extremely rare and were motivated to raise awareness in any way they could. The family began the Believe in Brooklynn Facebook page to share their story, and all Brooklynn’s family and friends are part of #BrooklynnsCrew with matching t-shirts! Brooklynn is now 8 years old and although her seizures, neurodevelopmental delay, and low muscle tone affect her cognitive, motor, speech, and visual function, she leads a happy life and is doted on by her family and friends. She has a great upbeat personality and although she cannot communicate in the typical way, she has no hesitation in letting you know her likes and dislikes. Brooklynn’s sister is a volleyball player, whose team wears #BrooklynnsCrew shirts for warmups at local and out of state tournaments to show support and help spread awareness.
Brooklynn loves riding in the ranger (off-road vehicle) around the ranch and dirt roads – the faster the better! Swinging is also another favorite activity of hers, the higher the better. She is quite the thrill seeker and loves motion! “Sunshine time” is her favorite time of day and sometimes she just lays out with her family for 20 minutes or they go for walks in her wagon with her puppy Coco. Brooklynn also loves being in the water. She will spend hours playing, splashing and floating in the bath or in her swim spa that she received from Make A Wish, San Diego. Traveling is another favorite of hers – she goes out of state with her family multiple times a year for sister Madison’s volleyball tournaments. She loves flying on the plane and always gets a window seat! The craziness at the tournaments with all the whistles, kids screaming, and commotion actually has a calming effect on her, and she seems to take the best naps there.
We sincerely thank Ragen and Brooklynn’s family for sharing her story to raise awareness of CDKL5 Deficiency Disorder on this Rare Disease Day. If you want to follow Brooklynn’s story or donate to her medical fund, check out her Facebook page.
If you would like to learn more about CDKL5, you can visit the International Foundation for CDKL5 Research (IFCR) website for a range of resources, clinical trial information, support information and groups, and to learn how to get involved or donate.