There are moments that feel so ordinary, so ordinary they remind me of my life before Jackie. It’s as if everything is back to how it was…back before the pain. I immediately become sad…the pain sets back in and the truth reveals its ugly self. I birthed a son, a beautiful son. Grief is an extremely hard journey. You prepare yourself for certain deaths that you will mourn in your lifetime, but this one I never saw coming.
Here is the email I received today to better explain the conversation we had with the genetic team. If any of you still had questions hopefully this will help:
“As we discussed, exact recurrence risk is a tough question to answer without yet knowing a cause. Generally, when a child has significant medical concerns, and neither parent has a history of similar issues, the condition is either transmitted by autosomal recessive inheritance, or it was a something that developed new in the child and was not inherited at all. Autosomal recessive means a genetic change for the same condition was inherited from mom and from dad. If this is the case, there would be a 25%, or 1/4, chance that a future pregnancy would be affected. I have attached a diagram that may help to show where the 25% risk comes from in those cases. If the condition was something that happened new in Jackie, then there would be <1% chance that it could happen again.”
“Another form of inheritance that we did not discuss, autosomal dominant inheritance, refers to conditions when only one gene change is needed for someone to develop a condition. In this case, we usually see transmission from an affected parent. In those cases, there is a 50% recurrence risk for each pregnancy, because there is a 1/2 chance that the affected parent passes on their genetic change, and a 1/2 chance that they pass on their normal gene copy. Rarely, with some autosomal dominant conditions, it is possible for an affected parent to have an autosomal dominant condition but to be very mildly affected, and their diagnosis could be missed until they pass the condition to a child who has more severe medical concerns. This is called variable expressivity, meaning that a condition can affect people differently, even within the same family. That is a very rare situation, and especially because you and Jack do not have histories of any minor concerns like Jackie’s, and his were were so significant, we can very likely rule out this form of inheritance, and the 50% recurrence risk, without yet knowing the exact cause.”“This leaves us with a 25% or <1% chance of this happening again.”
We love you Jackie!
#thisoneisforJackie #chdawareness #mysoniswatching