Yesterday Molly went to Children's for her 3 month check. She had a clear CT scan! Yay!
We did receive the results of the genetic testing. As suspected, Molly has a pathogenic mutation in the SDHD gene, diagnosed as paraganglimoa-pheochromocytoma (PGL-PCC).
What does this mean?
- It explains the formation of the tumor on her adrenal gland earlier this year.
- It indicates that she is susceptible to other tumors throughout her life.
- It means she may have inherited it from one of her parents, and so Lucy will also be tested.
- It means she likely inherited it from Kyle because it almost always only presents with tumors when inherited from the father, so Kyle will also be tested.
- Molly and any of the others who show the mutation will receive annual MRIs to scan for tumors to catch them early.
- The types of tumors associated with this syndrome rarely spread, so typical treatment is surgery alone.
- Molly can pass the mutation to her (future) children (50/50), but they are unlikely to develop tumors, only will be carriers, since she is the mother.
- Now we know.
As I've mourned this news and what it might mean for 3 of the people I love most, I also remind myself that I've been living with diabetes for 15 years. That disease is way more dangerous, and I'm fine. It just still kinda sucks, and I'm a little sad.
Hopefully we will know for sure about Kyle and Lucy in the next month and can begin monitoring them, as we will continue to watch Molly.
We are blessed to have great health insurance, so our out of pocket for Molly maxed out at $2000. The genetic tests are not covered, so that kind of sucks, but I'd still rather know.
I'm grateful for this platform and social media to keep me connected to friends near and far, especially for the past several months. No one hear has had Covid 19, and we've all gotten to spend a lot of quality time together.
