Yesterday I talked with the genetics counselor from the University.
Overall, I didn’t learn much that I didn’t already know.
The overall theme of the conversion, that’s a call for the doctor to make and:or decide.
I really wanted to ask the point of the genetics counselor but I was nice and refrained from it.
She explained that he has the mutation for Cowden’s like I already knew. She explained it is associated with the BZ syndrome but said people use those syndrome’s interchangeably.
Then she explained the high risk for cancer but its cancer that is found in adulthood so they would just monitor Sam. The main cancer concern is thyroid. I asked about the need to check his thyroid function. She said that was a call for the doctor to make.
I asked if there was anything we needed to be concerned with now or a few years down the line as she was all about increased risk for cancer. She said no but a call for the doctor to make.
She mentioned autism and I asked if we needed to be concerned about that. Again that’s a call for the doctor if he’s showing signs but said with his delays right now it would hard. I asked if all of his intense sensory needs means anything. She said ask the doctor.
Then she switched gears and said the doctor would need to figure out if I needed to be tested with the high cancer risk and most of the cancers are more female related and that its pretty clear this mutation comes from my side of the family.
So she said to make a follow up appointment with the doctor.
April 17th we visit with her.
Before I was before the counselor said this mutation along with his prematurity explains his delays and rather big head. I found that somewhat interesting being the NICU follow seems to feel that his delays fall out of the realm of his prematurity. The neo thinks he should be caught up to his adjusted age by now.
So back to waiting…
And in other news, I scheduled a appointment with a dietitian as suggested by Speech Therapist Melissa.
That is April 8th.