On February 11, 2015 we welcomed our fourth child into the world about two weeks early. She appeared completely healthy, weighing 6 lbs. 6 oz. We were surprised she was a girl, as my husband and I spent the entire pregnancy preparing for a boy. For 20 minutes we soaked in the joys of “new parenthood”, processing that we had a third daughter. Then our world began to crumble. Our brand new baby was having difficulty breathing, which resulted in being transferred to the NICU (neonatal intensive care unit).
My husband and I settled on the name Sonya Ahava, after my paternal great grandmother, a strong woman who lived a long and healthy life. During Sonya’s time in the NICU, she had a lumbar puncture, multiple blood draws, and various other tests all indicating she had an infection, but there was no known cause. I noticed questionable eye movements that made me on edge but I was told, “babies do weird things.” By day two I noticed her little foot would shake rapidly. It was so quick that by the time I called the nurse over, the shaking stopped. When there were no more shakes, the unusual eye movements continued. After eight days, Sonya was discharged home, but I felt something was not right. Two weeks later, my worst fears were confirmed—Sonya was having seizures.
By the time Sonya was a month old, she had endured a continuous EEG, an MRI, blood draws, numerous lumbar punctures and genetic testing. The neurologist recommended some of these tests to rule out possible causes of epilepsy in an infant. I never entertained that a genetic test would indicate a potential cause of her seizures because my husband and I were tested for genetic carrier disorders. No family members had an infantile seizure disorder—and she just looked too “typical.” A month later, the neurologist handed us a paper and two research articles with “CDKL5” highlighted—those five characters changed our lives forever.
CDKL5 (Cyclin Dependent Kinase Like-5) is a fancy string of characters to represent a gene located on Xp22.13 (which means, in the short (p) arm of the X-chromosome, at position 22.13). It is an X-linked dominant mutation affecting primarily girls, although some boys are able to survive pregnancy and do live with a CDKL5 mutation.
The purpose of the CDKL5 gene is to provide instructions for making a protein that is essential for normal brain development and function. Children who have a CDKL5 mutation often present with early onset seizures (usually within the first few months) and a myriad of other symptoms including (but not limited to) gastrointestinal difficulties, difficulty eating and sleeping, cortical vision impairment, infantile spasms, respiratory difficulties, limited or absent speech and/or decreased muscle tone. The majority of diagnosed children with a CDKL5 mutation are unable to survive or lead typical lives. We will learn the full impact of Sonya’s specific mutation as she gets older.
Sonya is now 21 months old. She has brown hair and beautiful blue eyes. Somewhere along her journey, she adopted the nickname Sonzee Bear. She has a smile that lights up a room and a unique giggle that is music to our ears. She is unable to sit, walk, talk, eat or be a typical toddler. She has such a severe case of gastroparesis that she is unable to tolerate any foods in her stomach. She is completely intestinally fed with a tube that goes through her nose into the jejunum portion of her intestines. Sonya has spent over 50 days in the hospital since birth. She has only experienced around two months (total) of seizure freedom in her life.
Despite these obstacles, our family continues to carry on. This special needs life is not one I dreamed of or planned for, but I realize it serves a purpose. As a mother, the reality of the situation can be blurry and terrifying, requiring us to fasten our seatbelts and make sure the harness is snug on Sonzee’s personal rollercoaster that has an unknown course. Sonya’s siblings are 3, 5, and 6, and have handled the last 21 months with amazing spirits, incredible attitudes, and extreme flexibility. We are open and honest—and encourage questions and discussion of feelings. We don’t know how long Sonya will be here with us, so we do our best to balance her medical needs with an emphasis on quality of life. Being a parent of a child with special needs is not something I asked for, but I have gained strength, a new perspective, a wealth of knowledge, and a refocused view on what’s really important in life. This would never have occurred without our Sonzee Bear.
Randi Zaila is a mom of four and hopes to spread awareness of CDKL5.