Update on Genetic Counselor Visit

     Back in December Charles and I met with a genetic counselor to go over all of Charles' medical history. We discussed his hemophilia, heart condition and the fact that he was born with no spleen. My doctor wanted us to meet with the counselor, Nancy, so that we could figure out the likelihood of Furrby inheriting Charles' medical issues. We also had numerous ultrasounds (at least two per visit!) so they could look at our precious babe. Well, Nancy's goal was to attain Charles' medical records from Riley's children's hospital so that she could get all of the information she needed. Things tend to get fuzzy and lost in translation after 14 years since the last visit!

     Well, Nancy called me yesterday and let me know that after more than a month and a half she finally got his records! She said the whole stack was probably three inches thick! She explained some stuff to me that really clarified some things for us. 

1. Charles has a mild case of Type A Hemophilia. This means that it is x-linked and passed to him from his mom. Our son has NO chances of inheriting this from Charles! If we have a daughter then she could be a carrier of it so we would get her tested at some point but that is obviously not a concern for us now! The best news is we don't have to get his cord blood tested and he can be circumcised with no concerns.

2. Charles' heart condition was explained to me as a transposition of his veins meaning the blood wasn't flowing in the right directions, therefore not getting to where it was needed. While this is all true, I found out there is more! (My man is so complicated!) His heart was rotated and not in the right place in his chest...and it is in these cases of heart rotation that doctors find the patient missing their spleens. That is the case with Charles. This news is good to know for our clarification but there is about a 30% chance of Furrby inheriting this or a condition like it. Nothing diagnostically will change for now in Furrby. The doctor doesn't believe that Furrby's heart is rotated or out of place and from what he could tell the blood was flowing properly so they beileve he is fine and has a spleen. We will have the pediatrician thoroughly examine him and decide where to go from there!

     This is all good news and I'm so glad to be understanding my husbands conditions better! Nancy is going to send us his records to keep and to give to his new doctors here. I'm really excited to read through the records...she said the doctors had a bunch of notes on him and even refer to him as Chucky (like his family does) in the notes! How cute is that? Nancy also told use that every time we are pregnant we should come in to see a pediatric cardiologist just to check on the baby's heart...again, not something we need to worry about right now but probably sometime in the future!