Quinlan’s Story

When a child is born with four doctors in the room during the birth, there are certain expectations for that child that have already been formed. Quinlan was a high risk pregnancy due to observed delayed fetal growth. After birth, life threatening developmental issues were immediately evident. So began the life of a child with an as yet undiscovered rare disease.

One of our first contacts after the NICU was with genetics and Dr. Boycott’s team. We never expected to need a geneticist, but the experience was warm and caring. Through careful questioning, we explored Quinlan’s initial diagnosis and pursued the tests for what seemed to be CHARGE Syndrome. When those tests came back negative, this prompted Dr. Boycott to submit Quinlan and parents to genetic sequencing to discover the true cause. This contributed to the discovery of an entirely new rare disease, Mandibulofacial Dysostosis with Microcephaly, or MFDM for short.

We are deeply indebted to Dr. Boycott and her team for their time and care when dealing with such a sensitive situation. They provided essential guidance when evaluating Quinlan’s prognosis and future care plan as well not giving up on discovering the true cause of his condition. Our hearts would never have laid at ease not knowing the source of this condition or whether it could be passed on again in future children. 

- Quinlan’s Dad