Our first child's fatal diagnosis, with a new pregnancy at same time.
The mom of a girl diagnosed with Sanfilippo describes the emotional journey she and her husband went on when they learned their daughter had a rare genetic disease at the same time that they had recently become pregnant again. Would this child be affected? What were their options?
Pediatric Disease: My Genes, My Guilt.
A genetic counselor talks about how it not uncommon for parents to feel guilty for 'giving' a genetic condition to their child. But Guilt is not a helpful emotion. "I can't erase the guilt but I can comfort them and help them understand it. We all carry non-working genes. Our genetics are unpredicatble and non-causatory. Can you really be guilty for something you had no control over?"
Genetics: Considering the 'odds' of having an affected child.
A genetic counselor discusses how the 'official' scientific odds of having an affected child can be 25% likelihood or 50% or 10% likelihood, but for that parent in that moment, it's really 0% or 100%. It either happens or it doesn't. The odds are a scientific reality, but the real understanding is that it CAN happen and it can happen more than once.
More Children? It was important to talk to a third party about what we were thinking.
A mother of a child with Sanfilippo and her genetic counselor talk about what happens once parents know that they are both carriers and have an affected child, and how a genetic counselor can help them weigh all the issues and anxiety involved in the decision to have another child.
Helping families adjust to the genetic diagnosis.
A genetic counselor explains the role of a genetic counselor: a combination of science and medicine and psycho-social support. Helping individuals understand the testing, the results, and what it means for their family. In pediatrics, counselors can travel with the family after the child's diagnosis with a disease for which the parents did not know they were carriers.
It’s one thing to NOT know you’re a carrier, it’s another thing to know you run the risk.
A mother of a child with Sanfilippo speaks candidly about having more children, once you know you have a 25% chance of having an affected child. "We didn't want to bring another child into the world who might suffer from this disease." The genetic counselor notes that this doesn't mean the parents don't love the child who is affected. "It's not disvaluing the life of the child they have." There are just so many considerations.