When Sarah was born I felt so blessed to have a healthy baby, albeit one with a crazy mop of dark hair! 6 weeks later at our doctors check we were told that her fontanelle couldnt be felt so we were referred to see a paediatrician at our local hospital. At the hospital they were concerned that Sarah’s soft spots had actually closed, and so they sent for a CT scan which they told us confirmed this diagnosis. We were given a leaflet and told to wait to hear from Great Ormond Street. That evening we received a call to say they had been wrong (one of several calls like this), and her fontanelle were not actually closed, but instead she had a small brain which was making her skull so small. She was diagnosed with microcephaly.

After a long wait to get an MRI, and then genetic testing, Sarah was diagnosed with PCH as a result of a deletion in her CASK gene. She was one year old. I quickly found the Facebook group ‘CASK gene support’ and spent many hours informing myself and reading the many positive stories on there. Without the group I would have been lost, since our geneticist couldn’t tell us much about the condition and all the published papers painted a very bleak picture. We have since found that having a CASK daughter is anything other than depressing. It is hard, certainly, but she can be so happy, she is so beautiful and has the best laugh that she makes it impossible to feel sorry for yourself for any length of time.

Check out Sarah Willow’s page on facebook and instagram. Sarah’s mother is the founder of CASK Research Foundation. Read more abAbout Us.