Lisa, now age 21, was diagnosed via prenatal amniocentesis to be a carrier of inverted duplicate 15 chromosome by Dr. Aubrey Milunsky at the BU School of Medicine in Boston. But in 1990 it was not clearly known what her diagnosis would be. It was initially thought that she might have either Angelman syndrome or Prader-Willi syndrome. After Lisa was born we were referred to a Prader-Willi clinic at the Spaulding Rehab run by the late Dr. Robert Wharton. Through evaluations by Dr. Wharton and his clinic both Angelman and Prader-Willi syndromes were ruled out. Lisa was diagnosed with idic(15) when she was 18 months old at the Children’s Hospital in Boston. Lisa was also born with scoliosis (curvature of the spine) and wore an upper body brace from age 3 to age 11, when she had surgery to have two steel rods attached to her spine. Since her surgery, she does not have to wear the brace. Lisa’s early years were faced with the typical challenges of our idic(15) children, fighting for early intervention, evaluations, and all of the required therapies to help Lisa develop her skills as early as possible. We did continue to see Dr. Wharton for many years, and he became Lisa’s medical advocate for us assisting with evaluations and recommending therapies she required to develop her to her greatest potential. Although Lisa does have some autistic mannerisms, she was not diagnosed with autism.
Lisa has surpassed beyond all expectations from what any of the doctors expected of her based upon her diagnosis. As parents we always expected the most for her and we have always required that from our school system as well as from ourselves. We have learned to challenge her and expect only the highest results, and some are achieved and others not quite. Her achievements include swimming lessons at an early age (4) and she is now a good swimmer, her joy of various video games, horseback riding, skiing, ice skating and gymnastics. She received her 1st Dan Black Belt in TaeKwonDo and is working towards her 2nd Dan Black Belt. She has participated in Special Olympics for track, horseback riding and gymnastics.
Lisa has a brother Michael, two and half years older than her, who will graduate soon with a masters degree from UMass Lowell. Michael was always willing to show her how to swim to the bottom of the pool to grab the colored rings as well as being patient with her when teaching her how to use the game controller so she could drive a motorcycle in a video game. Michael also enjoys skiing with Lisa, which is not something that we ever thought they would be able to do together.
As with many of our idic(15) children, Lisa does have seizures. However, she did not have her first seizure until the week after her 18th birthday. She had generalized tonic/clonic seizures for a period of 1.5 years and with various adjustments in medications she has now been seizure free for the past 1.5 years.
Lisa continues to learn new skills and her vocabulary never ceases to amaze us. She does possess the gift to chat endlessly and when friends stop by, she is a gracious hostess offering everyone a cup of tea! And last but certainly not least, Lisa provides unconditional love for her family and her friends.