Clara was born a healthy baby, except from her being small through pregnancy - she passed all the tests. It was noticed that she had a cleft palate in the back of her mouth and webbed toes But no major concerns.
The main thing we were worrying about was her feeding as Clara had to be fed through a NG tube until her palate was repaired. After seven months, Clara still had not hit her birth weight of 4lb 7oz.
She was sent to Alderhey Children’s Hospital for a peg to be placed to help with growth so she could have surgery for the palate to be repaired. While there, the doctors decided something else was going on.
Clara showed other signs of a syndrome but not knowing what it was. After lots of tests it showed that Clara aspirating regularly and had craniosynostosis which is a fusion of the skull. After weeks of tests the doctors still had no answers. We were lucky, a nurse who had worked on the one other child who had been in Alderhey Children’s Hospital in the last 25 years. She helped us get a diagnosis which unfortunately confirmed our daughter had Smith Lemli Opitz syndrome. This is a life limiting syndrome which stops her producing cholesterol. This has affected the growth of her body and her brain. This also causes problems with the major organs of the body.
Clara has already had numerous surgeries to do with her stomach, her intestines and her palate and will have more in the future. However, she has shocked all of the doctors in her strength of character, she’s a fighter. She shouldn’t do anything but she does. She is sitting, playing, moving, trying to talk and stand even though they told us she wouldn’t do any of these things.
She is a warrior and we are so proud of her.