The more we read about CFC (in case anyone is interested, her specific mutation is on the mek1 gene) the more the pieces of the puzzle fall into place! I really don’t think we thought we’d ever see the day when every little thing from my strange pregnancy and early delivery to Mary’s rough skin, strange ribs, and high palate would make sense. But this diagnosis literally fits her to a tee. This is a sweet relief that many parents of disabled children never receive. It is a gift that gives us a better understanding of Mary’s struggles but also equips us going forward to know how to better help her and what to watch out for. CFC is a rare diagnosis but is closely related to a much more common genetic syndrome called Noonan’s syndrome. Both are in a family of syndromes called RASopathies and there is a RASopathies clinic at Cincinnati Children’s Hospital.
Since Mary’s syndrome is a RASopathy, we are hoping we’ll be able to have her evaluated in the Noonan’s clinic in Cincinnati in February. We would appreciate prayer that her appointments going forward would be more substantive and productive in nature. We’ll be needing to make decisions about follow-up care and we’re hoping for a more cohesive team. This team will likely include at least genetics, neurology, gi, cardiology, and a developmental doctor. Please pray that things will line up for quick follow-up. Now that we finally have a little more direction it’s difficult to stomach the idea of waiting months for appointments!
We found out in our research that there’s a biannual CFC conference that will happen this summer in Texas. There’s a family that runs a scholarship program in honor of their CFC daughter who died at the age of 24. We’ve applied for the scholarship. Please pray that everything will work out and we can be there. It sounds like there is a fairly close-knit community that we’d love to meet, not to mention being able to learn from professionals interested and invested in caring for kiddos just like Mary! Such an exciting opportunity.