Happy 1 Month Ryman, we can’t believe you have already been here for one month.
We are so blessed to have this beautiful baby girl. She has definitely given us an exciting 30 days.
We finally got the results from Baylor yesterday that Ryman does in fact have CPS1 deficiency.
What does this mean? Well, the same thing that we have been planning for, a liver transplant is the only option. CPS1 is one of the most difficult urea cycle disorders to manage long-term due to the instability of ammonia levels. In order for Ryman to have CPS1 she had to have gotten one bad gene from me and one bad gene from Jeremy, or it could in an extremely unlikely scenario have been a freak mutation. They sat Jeremy and I down today to try to explain what mutations each of Ryman’s genes have. One of the genes has a mutation that has only ever been documented in one other person and the second gene has a mutation which has never been documented before. Yet another ‘Of Course’ moment. She is such a special girl :). Jeremy and I will have blood work done once we are back in Nashville to determine which mutation came from me and which mutation came from Jeremy. They also talked about what Ryman’s future would like as far as having children goes. No matter what she will pass along a bad (mutated) gene to her children. Therefore, if she were to have a child with someone else who has 1 bad gene then there would be a 50% chance that their child would have a urea cycle disorder. If she were to have children with someone who also had a urea cycle disorder, the doctors said they have seen this before – WHAT?), any children they had would definitely have a urea cycle disorder.
Ammonia level was in the 50’s today so the plan is to check it again tomorrow morning, give her Sunday off and then check it again on Monday morning. If all goes well we will take her to Georgetown on Tuesday to meet with the transplant team and we will head home after that appointment. We are meeting with them so Ryman can be listed on the transplant list on Thursday. They wanted to go ahead and list her so we can get the best possible liver for her, this gives them the ability to be really picky and find the perfect match.
Once we are back in Nashville we will be outpatients at the genetics clinic at Vanderbilt. Dr. Morgan spoke with Jeremy yesterday and made us feel much better about Ryman being back in Nashville. We are not sure how often we will start out testing her ammonia levels but we are confident that Dr. Morgan and the genetics team at Vandy are going to take great care of our little girl. They got her stable before we left for DC and have been in communication with Children’s National since we got here.
Ryman passed her car seat test and she even got to take a nap in it today. We are hoping she likes it as much as it seemed because our drive home Tuesday will be 11+ hours. Jeremy’s knuckles are going to be very sore!
We thank God tonight for our Ryman Ali. We are so proud to be her parents!
Lots of love, Brandy