We always knew our little girl was one in a million.
We just never quite realized what that really meant.
Katy was born March 5, 2005, appearing to be in good health except that both of her hips had been dislocated due to the stress of a breech position in the womb.
On her fourth day in this world, doctors fit Katy into a Pavlick Harness in our first attempt to get her hips to work back into place naturally. Each month, we moved up to more and more significant braces with the hope of a non-surgical solution. By June, her right hip had settled into it’s socket. Her left hip had other ideas, though. In July of 2005, when she was just five month’s old, Katy underwent an open reduction procedure to repair her left hip.
After three long months in a cast that stretched from her bellybutton all the way down to her ankles, doctors expected our little girl to immediately begin to roll and crawl. None of this happened. Eventually we brought Katy in for an MRI of her spinal cord and her brain to see if there was a neurological reason for her lack of movement and development.
While we were there, it took doctors and nurses more than two hours to get an IV in our little girl that day. She has never been the same around hospital personnel since.
About a year after her surgery took place, Katy – now one-year-old – began speech, physical and occupational therapy through the First Steps program in St. Louis. She still could not sit up on her own and had no mobility. She had trouble eating, could not speak and could not pick up small items without help. We were still working under the assumption at this point that Katy was just delayed due to her surgery and the cast that kept her immobile for three months.
On March 2, 2007, however, all of that changed. Michele (Katy’s Mommy) took Katy into see her orthopedist for what we believed to be a routine check-up. It was at this appointment that the doctor, after working with Katy for a few minutes, asked Michele how she was dealing with the diagnosis of cerebral palsy. Somehow, while we were never informed of our first neurologist’s initial diagnosis for our daughter, our orthopedist was. It was a devastating day for us. Unfortunately, it was also only the beginning of a whirlwind third year of Katy’s life.
In November of that year, Katy underwent her first electroencephalography (EEG) – a test that measures and records the electrical activity of her brain. Before we were home from the hospital for even 20 minutes, our pediatrician called to inform us that Katy showed evidence of seizures and we needed to see a neurologist immediately. (We found a new one, by the way.)
Eventually we discovered that the test – while abnormal – gave no real evidence of actual seizures. As almost an afterthought, Katy’s neurologist decided we shouldn’t wait any longer to order a major blood test to determine if there was some sort of genetic deficiency. By this time, we had already seen a geneticist at Cardinal Glennon Hospital and received tests back – all negative – for a number of different genetic issues. The test Katy’s neurologist was ordering was a complete analysis of her chromosomes.
So back to the hospital for more blood tests we went. On March 8, three days after her third birthday, test results confirmed that Katy suffers from a deletion on chromosome 6. Her official karyotype is 46,xx, del (6) q13q14.2. What this means in simple terms is that a part of chromosome 6 has been wiped out between sections 13 and 14.2. What this means in terms of Katy’s future… no one really knows.
On March 25, at a meeting with genetic counselors at Cardinal Glennon Hospital in St. Louis, her official diagnosis (from cerebral palsy) was changed. After hours and hours on the computer, we are in contact with only one other living person with this exact defect. We have found evidence of possibly three others in the world right now from a number of medical journals going back to 1972. All of these articles merely report on conditions and symptoms. We know of no doctors in the world currently doing research into this deletion. In total, we know of approximately 85 cases in the world right now of deletions anywhere on chromosome 6, with 75 percent of the cases existing on the long arm of the chromosome.
In short, we know basically as much about Katy’s condition as her doctors do.
Katy is now five years old. She still can not walk or talk although she has made significant strides in the past year. Evidence suggests that her deletion affects only her voluntary muscles. Along with the physical, occupational, speech and music therapy sessions she receives at the Early Childhood Development Center, we have also found huge improvements by using swimming therapy and horse therapy on a weekly basis.
Katy’s use of music therapy has made a profound change in the way Katy communicates and in the way Katy’s teachers communicate with her. Tests have shown us that Katy focuses nearly 350% better – on almost anything – when it can be done to music. Since this was discovered, Katy’s vocalizations have improved by incredible amounts. The little girl that screeches or grunts still comes out every once in a while in frustration; but more importantly, Katy actively tries to imitate language with us now. Her teachers have taken to singing questions to Katy instead of merely asking them. While Katy still communicates using sign language, or what we’ve always referred to as “Playing Charades with Katy,” we are now concentrating on developing her spoken language skills as much as possible.
Today, we are still in the process of discovering where Katy’s condition will lead us in the upcoming years. It’s both a blessing and a curse to have no historical basis to go on. On one hand, we have no preset ideas of what she can’t accomplish; but we also don’t know what will work best.
So she, her three brothers and one sister, will just keep working towards whatever comes our way.
Updated May 13, 2010