Genetic Deletion | 9q21

Genetic Deletion | 9q21

Disease definition:
A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus.

This was truly our jumping off point into the vast world of Merritt's mystery. A chromosomal deletion previously marked in medical history, but not quite in this fashion. Following microarray testing, it was apparent that many of Merritt's onset issues may be stemming from this genetic deletion. With the help of Dr. Caleb Bupp at Helen Devos Childrens Hospital, we have begun the process of unraveling pieces of her story.

With an understanding that as in many things in our lives, a cure, or solution may never be truly possible, we continue to strive to learn and share as much as we can to help Merritt become the best version of herself.

Back to blog

Leave a comment