My CHEO Story
My son was continuously monitored by a growing team of specialists throughout pregnancy, birth, and on into the present. Evidencing concerning growth patterns in utero, the pregnancy was flagged as high risk. Numerous doctors were on hand at the delivery and numerous severe physical issues were evident within minutes.
My son spent the next three months in CHEO’s NICU and other units receiving life saving surgeries, being analysed by doctors from every department, while continuously updating myself and my wife on new discoveries being made each day.
While diagnosed fairly early with CHARGE Syndrome, this was based on a close match in symptoms, genetic testing suggested this wasn’t the correct diagnosis. Further genetic tests including both parents found his condition to be a new syndrome, finally identified in 2012 on a report with his geneticist’s name proudly printed on it, Dr. Kim Boycott, among others.
The medical issues facing my son were numerous and many of them would have been lethal if it were not for the intense monitoring by the doctors present at the birth and in CHEO. My son is alive today because of the hard work of the medical professionals of this city. The persistence of our geneticist, Dr. Kim Boycott, helped us to move from not knowing what afflicted my son to revealing his condition to be a new genetic mutation, not inherited from either parent. While this did not lead to any sort of cure, knowing the base cause of the issue provided significant relief to my family. It was nice to finally have a name for his condition, even if it was fantastically hard to pronounce: mandibulofacial dysostosis with microcephaly(MFDM).
We now have a medically stable, happy child who looks forward to waking up each day, who does not resent his condition, and who is warmly embraced by his fellow school mates as he makes his way in this world of discovery. As his father, I hope my son’s progress in life can be used by the research community to improve the treatment and care for new children born with MFDM.
As his father, I hope my son’s progress in life can be used by the research community to improve the treatment and care for new children born with MFDM.
Why I'm involved
The field of genetics is a field of great interest. Whether others relate to a personal experience with my son’s journey, or those of other young people I’ve met over the years, I’d like to help.
- Patient and Family Advisory Committee Member 2018-2019
- Research Project reviewer: Mental Health
- Patient and Family Advisory Committee Member 2019-2020
- Research project Reviewer – Rapid Access to the CHEO Data Warehouse Through Data Synthesis
- Patient and Family Advisory Committee Member 2020-present
- Research project Reviewer- Pandemic pivot to virtual visits in pediatric diabetes: Successfully replacing in-person appointments?
- Research project Reviewer – Development of an Oral Reovirus-based Vaccination Platform for COVID-19
- Research project Reviewer – Transforming Health Information and Research Synthesis through Technology and Teamwork during the COVID-19 Pandemic: Development of Two Open-Access Databases
- Research project Reviewer – What is known about the use of social media by families with genetic diseases: A scoping review
- Patient Representative for Unveiling of CHEO Research Strategic Plan 2020-2024
- Research Project Reviewer – Implementation of Patient-Reported Outcome measures into the Pediatric Non-Malignant Hematology Clinic