Community members are organizing a fundraiser to help get a young boy from Barriere and his family to go to Boston for important medical treatment.
The young boy, Connor, 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. Probably the most concerning is the frequency of sudden death in these children.
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. The genes affected include ones that are related to reduced muscle tone and psychiatric disorders such as schizophrenia.
At present there is no specific treatment that can undo the genetic pattern seen in people affected by these syndromes. However, a neurosurgeon, Dr. Ron Thibert, in Boston has devoted many hours to the research, and clinical management of the syndrome. Earlier this year he opened a clinic at Massachusetts General Hospital in Boston.
The family has been very fortunate to have the Dr. Thibert consult with their Kamloops pediatrician in regards to the management of Connor’s seizures. Connor now has the opportunity to visit the clinic and have a consultation with Dr. Thibert later in October. He and his clinic will provide Connor with a management plan in order to control his symptoms.
There will be a dinner for Connor in the Legion basement on Oct. 12 from 5:30 – 7 p.m. with a pie auction to follow. There will also be music and a social upstairs thereafter.
Dinner will be by donation and if you would like to donate a pie or any other contribution, please call Bev Murphy at 250-819-5684.