Young Connor McKirdy suffers from a variety of chromosome disorders: Chromosome 15q Duplication Syndrome (Dup15q), 17q and 3q23 Chromosome Disorder. Some of the main characteristics of all children affected by Dup15q are seizures (to which Connor has had up to 18 episodes a day), cognitive delays (mental retardation and behavior problems), fine motor delays, speech and language delays, sensory process disorders and anxiety disorders.
There is very little known about 3q23 Chromosome Syndrome and the genes that affect it. Connor, in fact, is so far the only one in the world documented with this disorder, and at present there is no specific treatment that can undo the genetic pattern seen in people affected by these syndromes. However, there is help for Connor, who recently had the opportunity to visit neurosurgeon, Dr. Ron Thibert, in Boston, Massachusetts, who has provided this youngster with a management plan to help control the symptoms of his disorder.
To help send Connor to Boston, Barriere gathered together and held a fundraiser dinner and pie auction on Oct. 12. The funds raised were exceptional, and provided a great assist with the trip expenses, as well as some of the medical costs.
Connor’s mom, Therese McKirdy, stopped by the Star/Journal on Monday to excitedly report that she and Connor are now back home, with “Expectations exceeded!”
“The journey was filled with many wonderful new sights and sounds, but none as great as the hours spent at the clinic,” reported Therese, “Dr. Ron Thibert was as knowledgeable, kind and informative as we had hoped. His colleague, Dr. Morgan, in neurophysiology, was equally helpful in her assessments and diagnosis with Connor’s current and known future physiological issues associated with Dup15. We came home with a list of critical tests that need to be done to manage his heart and kidney dysfunction, epileptic management, dietary requirements, and most importantly peace of mind that we finally have an incredible team behind our sweet boy. We are blessed, and we thank you again Barriere.”
