Brady was born in July 2005 and, to our surprise, popped out with a head full of blonde, curly hair. He weighed 7 pounds 4 ounces and was absolutely beautiful. The next few days filled us first-time parents with worry as Brady struggled to maintain his body temperature and to find the strength and coordination needed to suck and swallow. However, after 5 days in the hospital our new little family headed home to start our life together.
Brady was very colicky and had trouble digesting typical formula. We assumed he was just a high maintenance baby and eventually found alternative formulas and ways to feed our beautiful boy who didn’t like to eat. However, at Brady’s six month check up, his pediatrician stated that Brady had very low muscle tone and directed us to meet with a developmental pediatrician. The appointment that followed confirmed the fears we had been brushing aside for months. Brady was not developing and, based upon some distinct facial features, likely had a genetic syndrome of some kind.
After six months of exhausting genetics testing to rule out some very scary, terminal diseases, Brady was finally diagnosed with 1p36 deletion syndrome. As the many doctors and specialists we had seen had little information about this syndrome, we were overjoyed to find other families online whose children were living and thriving.
Today, Brady is 5 years old and attends Kindergarten in the local school district. He has epilepsy which is well controlled with medication, and a smile that can light up any room. He learned to walk at the age of three and now even runs and jumps, although navigating stairs is still a work in progress. While Brady has not yet attained verbal speech, he understands almost everything spoken to him and communicates via sign language, a communication device, and some very effective methods of manipulating adults with his smile or kisses.
Despite his limited expressive communication skills, Brady is in there. He is a force to be reckoned with and has learned his colors, shapes, letters, and can spell his name on his “talker.” He has an uncanny ability to remember directions and places, as well as any promise his parents make to reward him for good behavior. Brady’s greatest loves in life include buses, goats, dogs, other kids, and fast food chains too numerous to list. He is well known at several neighborhood stores and restaurants and is, quite simply, the greatest thing to ever happen to our family.
1p36 Deletion Syndrome is a chromosome disorder characterized by moderate to severe intellectual disability, delayed growth, limited speech ability and distinct facial features. It is estimated that this syndrome occurs in one in every 5,000 to 10,000 births. For more information on this syndrome, please visit http://www.1p36dsa.org/
