The story of Randi
My formal education is in Speech Language Pathology, which my husband jokingly tells me is the exact reason our fourth child was born with an unexpected rare genetic disorder known as CDKL5 (Cyclin Dependent Kinaise Like 5). To give you a brief background, CDKL5 is found on the xp22 region of the X-chromosome. The gene was initially known as STK9 (Serine- Threonine Kinase), however, in 2003 the gene was linked to Infantile Spasms and mental retardation and so the name of the gene was change. There are between 600-1000 documented cases in the world. My husband and I joke that our daughter won the genetic lottery. CDKL5 is a rare orphan disorder. As CDKL5 becomes more known, there are more adults and children being tested and diagnosed.
Within a day of birth I noticed that Sonya’s ankle would shake, but by the time I would call a person over to look at her, it would stop and they would tell me “baby’s do weird things”. I had an overwhelming sense that something was not right, after all I did have 3 children at home that did not do this weird thing, but it wasn’t until she was 4 weeks old that I received confirmation that what I had been seeing were in fact seizures.
She has been on the equivalent of adult dosages of her anti-epileptic medications (Keppra and Topamax). The side effects of these drugs are no joke. We have tried many roads to attempt seizure control and so far, all have failed. She has been fortunate to have 72 hours of seizure freedom one time in her one year 2 weeks of life. She is classified as Failure to Thrive since she has limbo-ed between 14.1 and 14.14lbs since she was 6 months old. She has a minimum of seven diagnostic codes written on her medical chart. She is unable to sit without assistance or hold a bottle without assistance; she is unable to hold her head up for more than 5 seconds at a time. She will always be behind developmentally, her life expectancy is unknown, and whether we will be able to ever gain control her seizures is unknown.
There is NO cure.
Rare disorders such as CDKL5 need to be given the appropriate recognition. We need more funds, more research capabilities, and we need to raise more awareness to help all the families with children who suffer from the deficits of CDKL5. It is imperative we shine a light on all rare diseases to give everyone a chance!
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