Meet Jack!
The journey to our 17-year-old son Jack’s diagnosis of Smith-Kingsmore Syndrome took 15 years to accomplish. It was one we never expected to take.
During my pregnancy, the obstetrician noticed Jack’s head was measuring much larger than is typical. His body showed markers for Down syndrome and dwarfism, however, both tests came back negative. We were told he just had a big head like Mike! Jack was induced at 36 weeks 3 days gestation due to low amniotic fluid and topped the scales at 8 lbs 14 oz.
In 2003, at his 1-year check-up, the pediatrician told us that Jack had significant global developmental delays. The doctor’s opinion was that we shouldn’t “waste our money” on the cutting-edge genetic testing of that time. He thought the science wasn’t advanced enough just then.
The doctor’s opinion, though heartbreaking, was entirely correct. Smith-Kingsmore Syndrome wouldn’t be discovered until 2013 and Jack wouldn’t receive a diagnosis until 2018.
Over the years, Jack has taught us about who he is without saying a word. He loves to cuddle, swim and listen to music like his favorite band Coldplay. He can bounce on his exercise ball for hours. And the man can put away more meatballs in a single sitting than anyone else I know!
The diagnosis didn’t change who he is, but it has helped us access the care he needs. We are grateful to the talented specialists at Cincinnati Children’s Hospital. They have provided our family with a well-considered array of medications, research and support. Jack’s sleep has dramatically improved over the recent past. His headaches and periods of agitation, which used to happen multiple times per week, have been almost entirely eliminated. Jack’s quality of life can only improve through these encouraging developments.
That is why Mike and I, along with 3 other families, serve on the Smith-Kingsmore Syndrome Foundation Board of Directors. Our mission compels us to create a financial environment to encourage medical breakthroughs in such areas as sleep, epilepsy and communication. We want to support all of our SKS families and create awareness of this rare genetic anomaly. The Smith-Kingsmore Syndrome Foundation was not created just for four families–it is for all of our families. Our SKS community, through the Smith-Kingsmore Syndrome Foundation, can create a sunny world of hope for children affected by Smith-Kingsmore Syndrome. Together, we can change the world!
Written by Kristen, Jack’s mom
