If you are considering having children, it’s wise to consult with a genetic counselor for screening and testing before conception. Here’s why: there is a plethora of deadly and/or seriously problematic genetic disorders out there that you can pass on, unknowingly, to your children. One such genetic condition is Gorlin-Chaudhry-Moss (GCM) syndrome.
Even though this inherited disease is sooooo rare that scientists have not been able to even identify the genetic mutation, and no genetic test is available, people who have a family history with GCM might still want to talk with a genetic counselor.
With fewer than four cases documented in the scientific community since the 1960s, it’s highly unlikely that a biotech or pharmaceutical company will open their treasure chests to fund development of a treatment for GCM. After all, it costs approximately 1 billion dollars to research, develop, and bring a drug to market; they’re gonna want a big return on their investment. Okay, makes sense, I guess… So yeah, GCM is an EXTREMELY rare condition.
For those few parents who believe they may be carriers of the disease, a genetic counselor can offer suggestions and make recommendations about how to best weigh your options before deciding to have a child. You can read more about the statistics of passing on the disease HERE. If you suspect you may be a carrier because it runs in your family, it means that you are asymptomatic but you could have a 50% chance or greater of passing it on.
Symptoms of GCM (which are usually present at birth) include:
- Eye, dental, and genital (labia) abnormalities
- Craniofacial abnormalities
- Congenital heart and pulmonary abnormalities
- Cognitive issues
- Short fingers and toes
- Hearing loss (conductive)
These are serious things to consider, so why not reach out for the professional expertise of a genetic counselor? Having support from someone who can provide both emotional support and empowering information can make a huge difference. You can learn more about genetic counseling by clicking HERE.
My heart goes out to anyone who’s been touched by GCM and any other rare disease—especially the parents.
