The story of Charlotte
Our daughter Maisie has Cardio-facio-cutaneuous Syndrome, a rare rasopathy which was caused by a change in her BRAF gene (Maisie’s variant is c.770A>G p.(Gln257Arg).
We didn’t know Maisie had this syndrome before she was born, but at our 12 week scan her nuchal fluid was 9.3mm and we were told there “would be something”, however testing was negative and didn’t provide any clues.
After Maisie was born a combination of genetic testing and assessment by a genetic counsellor concluded that Maisie had CFC Syndrome.
As his only sibling, our Son Arthur knows Maisie isn’t developing as those without a genetic change do; but he doesn’t know a sibling any differently and so Maisie is just Maisie to Arthur and he is wonderful with her (when he isn’t gaming!)
As parents we have strived to learn everything we can about RASopathies, CFC Syndrome and all the individual medical concerns that Maisie has. We have become her advocates as well as parents and adapt with the changes that come. We even started a blog in the hope that it would help others navigating their journey with this rare syndrome too.https://www.google.com/url?https://m.facebook.com/JourneyintotheunknownCFCsyndrome/
Whilst CFC = Heart, Face, Skin, RASopathies can affect every part of the body, in fact GARD lists 127 different reported symptoms https://rarediseases.info.nih.gov/diseases/9146/cardiofaciocutaneous-syndrome.
To learn more about CFC Syndrome please visit www.cfcsyndrome.org