Over the past two weeks, we've met with pediatric genetics and pediatric endocrinology to get updates and make a plan for Ginny's care concerning the CAH. While we didn't learn anything game changing, its always nice to talk to her doctors and feel on top of her condition.
Last week, we met with the pediatric genetic specialists at the children's hospital. I wasn't sure what to expect for this appointment, but it turned out to be a lot of family history questions and then answering any questions I had. The big question I had was, "What now?" What do we do from here? What can we expect? Will things change for her over time? What will this look like as she grows? The answer?
They're not completely sure.
I get it, this condition looks slightly different for everyone that has it. For Ginny, despite knowing that she has the common form of 21-hydroxylase deficiency doesn't excuse the fact that her presentation is not totally typical. She requires a very low dose of medication, yet when her initial blood work was done, her hormone levels were all over the place. Suffice to say her genetics specialist and her endo are both interested in watching this play out for her as she grows. Not the comforting answer I was looking for, but I guess it'll do. She's growing, developing, and happy. What else could I really ask for?
The specialist requested that Jeff and I get blood work done to label out our CAH related gene mutations. Since this is a recessive disorder, both of us needed to contribute a gene to Ginny in order for her to have the disease, but knowing exactly what is going on with our genes will give an overall clearer picture. He wasn't as concerned about testing Charlie at the moment, but asked us to defer that question to Ginny's endo.
The best news we got from the appointment was about future children. With these being our genes, we can't control what would be passed to another child, should we have more. The genetic specialist did say, however, that Ginny's condition was mild, completely controllable, and would never affect her quality of life over time. It should not impact our decision to have additional children should we want to.
Today, was her endo check up. Every few months, she needs to go in for a height and weight check and to make sure her meds are still at the right dosage. Though these appointments will space out more as she gets older, she'll need to see an endo for the rest of her life. Luckily, I really like her endo and all the nurses are ridiculously sweet.
Turns out, the doctor isn't concerned about Charlie at all. With how often he's been sick and through his various surgeries, if he had CAH we'd certainly know by now. Well, that's good news. He also talked about Ginny's genetic results and the communications he's had with a doctor/researcher colleague out at UC San Francisco. This is a little confusing, so hang in there. Ginny's condition is very rare. Within that realm, however, her cause of adrenal insufficiency is common (21-hydroxlase deficiency). The exact allele that is causing that deficiency, however, is extremely rare. The lab that processed her genetic work up, one of the largest labs for this kind of testing, has only seen 13 cases of it.
What does that mean? Maybe a little, maybe a lot. It does mean that its really freaking crazy that Jeff and I both had this extremely rare gene. Needless to say, we've been asked by 2 different doctors if we're related. Um, no.
Her endo is going to try and find out information about the other cases to help us get a picture of what her future will look like. They're still curious about her odd symptoms. One of them being an abnormally high progesterone level at birth that has been slowly declining over the past year and the absence of an enlarged clitoris (the presence of which is a very common trait for CAH girls) until 3-4 months old. He thinks that her high progesterone levels were masking what the excess androgens would have typically done to her body, but he doesn't know why. We'll be doing another round of blood work in May to test her progesterone and ACTH suppression.
In the meantime, we have a healthy, growing baby girl. She's 19 lbs 10 oz, 28 1/2 inches long. She's coming down off a growth spurty week of sleeping and eating and is finally filling out 12 months size clothes.
Her next appointment is in July, which may come with a new med dosage, depending on how much she grows. Otherwise, keep on chugging along!