Looking beyond disability

Abstract

June 30, 1998: it is a beautiful summer day. My husband and I, pregnant with our second child, are in the doctor’s surgery watching our developing daughter by ultrasound. That bright and sunny day soon turns cloudy when the geneticist cuts short our daughter’s “performance” and recommends amniocentesis. He expresses concern about her hands. They don’t seem to be opening. We had never considered amniocentesis, yet in 2 minutes my husband and I have to make a decision. Although we know we would never terminate the pregnancy, the fear of getting bad news is overwhelming. For 7 days we agonise over all the potential problems, while trying to hold on to our hope. We are healthy; I am taking good care of myself. Yet, my maternal instinct tells me that something is wrong. When the results come back normal, I challenge their accuracy, especially after learning that amniocentesis doesn’t identify every possible chromosome abnormality. My intuition grows stronger when another ultrasound finds a hole in my growing baby’s heart. Although a common defect and fairly easy to repair, it is more devastating news. Then at 7·5 months, our little girl we eventually name Kasey, has to be delivered by caesarean section because of a lack of amniotic fluid. As I am being wheeled into the operating room, I pray that she will live. My request is simple: please take me instead of her. I’ve had a good life, just give this innocent little girl a chance. Weighing in at just over 2·5 lb, Kasey uses every ounce of energy to survive. Her determination and wonderful disposition both impress and touch her carers. She endures more problems than a typical premature baby because of her heart defect and subsequent respiratory issues. Despite these challenges, Kasey doesn’t give up. After spending 71 days in the neonatal intensive care unit, including having surgery to control blood flow to her lungs, Kasey finally comes home. Her fight doesn’t stop there. Kasey is admitted to hospital because of seizures, severe bouts of pneumonia, and for three operations: open heart surgery, eye surgery, and nissan fundoplication. In the midst of these treatments, my suspicions are confirmed; further genetic testing uncovers a chromosome deletion called 1p36. Simply put, a section on her first chromosome is missing—one of the largest deletions uncovered by geneticists studying this syndrome. Although her prognosis is unclear, Kasey will need care for the rest of her life. Amazingly, this chromosome deletion was to have an enormous positive effect on our lives. May 13, 2001: it is a beautiful spring Mother’s day. Looking back over the past 3 years, I’m so thankful that the amniocentesis results were inaccurate. Since we didn’t learn of Kasey’s diagnosis until she was 9 months old, we were able to get to know, love, and admire Kasey as an individual, as our daughter. We didn’t allow doctors to define her for us. Children teach us so much, and Kasey is no exception (figure). She continuously shows how powerful the will to live is. She relishes every moment of joy, for she learned early on how hard life can be. Her positive attitude has held the family together. She has given us hope that extends beyond her disabilities. She has created a bond that will hold us together no matter what obstacles are thrown our way. Fortunately, her seizures have stopped, her heart is whole, she no longer wears glasses, she only contracts pneumonia once a season, and she doesn’t have reflux. From a mother’s perspective, Kasey’s future is bright. She receives treatment and will soon go to a public school. We will allow Kasey to show us her potential, rather than labelling her “severely mentally retarded” and casting her off to be locked away from society. We haven’t lost the most important element to dealing with this situation: hope. My father once asked, if I could ever make Kasey “whole”, would I? Without any hesitation, I answered: absolutely not. Adding the missing genes would make Kasey a different person, a stranger. I don’t question Kasey’s limitations, but rather relish in her abilities. I believe Kasey’s experiences will show those she meets how she is making a difference. She has a purpose. While we don’t know what tomorrow holds, we intend to allow Kasey to live life to the full. I recently gave birth to our third daughter, Morgan, who is happy and healthy. On this Mother’s day, I feel I am the luckiest person in the world. All my children teach me invaluable lessons. Whereas at one time the thought of having a disabled child devastated me, today I feel so fortunate that I was chosen to receive such a beautiful gift. Kasey Tillisch, who enjoys all the pleasures of a typical 3-year-old