Desirae and CDKL5

By Nancy, Canada, February 28, 2014

Hello, This is the story of my beautiful granddaughter Desirae, she has CDKL5.

On September 30th, 2011 her life with us began just like that of any other “normal” baby , but it wasn’t long after that we noticed something was horribly wrong. At just 5 weeks old my daughter brought Desirae to the Emergency department, our baby girl was having seizures. Diagnosed with Epilepsy, we were devastated.

Months went by, trying drug after drug and her seizures were still not under control, we were informed Desirae had drug resistant Epilepsy , the summer just before her 1st Birthday her seizures started to look different, and she was miserable. We immediately got in touch with the Neurologist team and emailed a video of one of Desirae’s seizures, sure enough, they confirmed what we thought, Desirae was now having Infantile spasms (Infantile spasms is an uncommon epilepsy syndrome that typically begins in infancy. Infantile spasms is considered to be a "catastrophic childhood epilepsy" due to the difficulty in controlling its symptoms and the developmental problems that can occur as a result of the condition). After failing 2 different medications, Desirae went on to start a heavy dose of injectable steroids to conquer the spasms. Desirae celebrated her Birthday with just a quiet family get together, the steroids shut down her immune system and we weren’t taking any chances of her catching anything from any other children

After getting her Infantile Spasms under control, Desirae was still having regular seizures. At one of Desirae’s neurologist appointments her doctor’s thought she may have what they call Cortical dysplasia of the left frontal lobe (when the top layer of the brain does not form properly)

Desirae’s neurologist/team decided they wanted her admitted to the hospital and have her hooked up to a video EEG monitor. This was in hopes of capturing a seizure so they could better determine where they were occurring – we were told Desirae may be a candidate for surgery, if they could pinpoint the area in her brain, but that all came to an END! On the 5th day (the day she was being released) we were told that Desirae’s seizures were coming from both sides of the brain and then it came! Genetic testing that was done 6 weeks prior came back... Desirae was diagnosed with CDKL5! (a rare X-linked genetic disorder that results in early onset, difficult to control seizures, and severe neuro-developmental impairment. Most children affected by CDKL5 suffer from seizures that begin in the first few months of life. Most cannot walk, talk or feed themselves, and many are confined to wheelchairs, dependent on others for everything. Many also suffer with scoliosis, visual impairment, sensory issues and various gastrointestinal difficulties)

I’m thankful everyday that Desirae isn’t the extreme case. My little girl is happy, alert, laughs and loves cuddles... and with continued support from all those that love her, her doctors, therapists and aids we will continue to fight and one day hope for a cure!

Share this

Share your photos, videos and your experiences!

Be part of Rare Disease Day by sharing your story with others and sending a message of solidarity! You can write about your story and also submit photos or a video testimonial.
X

Share your story




(To find the english name and more information about your disease, click here). Start typing the English name of your disease. Please choose from the suggestions that appear. If your disease is undiagnosed please write ‘undiagnosed’, or if you would like to list multiple diseases, please type in a list separated by commas.