We had Mary’s appointment in Cincinnati on Thursday. We’re very grateful for the opportunity to work with a doctor who is well-versed in RASopathies and has even worked with CFC patients before. Dr. Prada was thorough and took plenty of time explaining things to us and answering our questions. We also saw Dr. Kruger who is the neurologist that works with Dr. Prada in the RAS clinic once a month. He was also very thorough and helpful.
Dr. Prada referred us to endocrinology, orthopedics, a new gi, and would like Mary to have another echo. This sounds somewhat overwhelming. But mostly it’s a huge relief. I’ve felt for a while that Mary should see an endocrinologist and an orthopedic and had even looked into doing a repeat echo. However, not knowing which direction to push in and all testing usually coming back “mostly normal”, I was really running out of steam and it seemed Mary’s doctors mostly thought I was asking for unnecessary things. Some of the tests and interventions we’ve done have felt like agonizing decisions at the time and there wasn’t much confirmation afterwards that we did the right thing. It’s gratifying to know now that each of those things are recommended for kids with CFC upon diagnosis. We feel that God has directed our path and we’re grateful for where He’s brought us.
The biggest question going forward is what is causing Mary’s regular regressions. I haven’t written about them before I don’t think, mostly because I don’t understand what is happening. She tends to have weeks at a time where she suddenly loses skills we had been working on and becomes very irritable. Those who interact with her on a daily basis all agree that she seems to be in pain during these times. But there’s no way of telling the source of that pain. These periods are very disruptive to Mary’s overall progress and this would not be considered a normal progression for kids with CFC. So currently everyone’s main concern is trying to understand what is causing it.
Dr. Prada also explained to us that the digestive struggles of kids with CFC tend to be about the hardest part of the syndrome to manage. He said it takes a lot of trial and error. Interestingly, this also felt like confirmation both that we’ve been doing the right things and that I’m not crazy for feeling that it’s been extremely hard to manage. Thanks in large part to our wonderful dietician, we’ve really made progress over time even if it has been slow. And now that slow progress feels like success instead of failure. 😊
Thank you for your ongoing prayers and concern. And stay tuned for further updates!