The Millers' Story
In 1997 things were going well. Amy was a personal trainer at a retirement community wellness center and I was in my second year of teaching so we felt financially secure and enjoyed what we were doing for a living. The following year our daughter Natalya was born. A few weeks after her birth I came home to hear Amy say, “I think Natalya had a seizure today”. Our whole world changed at that point. Natalya was slow to reach milestones (if she reached them at all) and it was obvious to us that something was very wrong. Sixteen years and three genetic tests later Natalya finally received a CDKL5 Deficiency Disorder (CDD) variant diagnosis.
CDKL5 is the cyclin-dependent kinase-like 5 gene, and CDD is a rare diagnosis that was first identified in 2004. It is caused by mutations in the CDKL5 gene found on the X-chromosome. Since females have two X-chromosomes (while males have an X and a Y chromosome), CDD most commonly occurs in females. The CDKL5 gene provides instructions for making a protein that is essential for normal brain and neuron development. The CDKL5 protein acts as a kinase, which is an enzyme that changes the activity of other proteins by adding oxygen and phosphate atoms (a phosphate group) at specific positions. Researchers have not yet determined which proteins are targeted by the CDKL5 protein. 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. They are dependent on others for everything. Many also suffer with scoliosis, visual impairment, sensory issues and various gastrointestinal difficulties.* Obviously, it is devastating for the families of affected individuals.
We are fortunate that Natalya has a CDD “variant” diagnosis since she is able to walk, talk and feed herself but she does require 24/7 care. She loves music and other performing arts, enjoys outdoor activities, and has a wonderful sense of humor. In fact, Amy and I gave her the nickname “Goose” at a very young age because she has a definite silly streak in her.
During the time I was teaching, I left the house by 6:00 a.m and rarely arrived home before 5:00 p.m., so Amy prepared Natalya for school before she left for work and then took care of her after school needs each day. This was a difficult task, so after 20 years of teaching I retired at the end of the 2015 school year so that I could take on more of Natalya’s care. This also opened up an opportunity for me to be elected to the board of directors of The International Foundation for CDKL5 Research (IFCR). We are an all-volunteer board made up of parents with children diagnosed with CDD. IFCR is a 501(c)(3) non-profit that funds research on a global scale in search of a cure for CDD.
In the summer of 2018 I was informed that the CR Warriors 4 Change had chosen the CDKL5 Center of Excellence at Children’s Hospital Colorado as the charity they wanted to focus attention on for 2019. This Center of Excellence is where Natalya and other individuals from around the country with a CDD diagnosis receive therapy, and their families receive expert assistance to help them understand the complications associated with present and future physiological and medical issues. I am overwhelmed to know that our clinic was chosen and on behalf of my wife, myself, and especially all those affected by CDD, wish to express our gratitude. I am proud to be a graduate of Washington High School – Class of 1980. We are a fantastic group of people making the world a better place!
Paul, Amy, and Natalya Miller
*International Foundation for CDKL5 Research web site.