Costello Syndrome Curve Ball

Daisy has Costello Syndrome -  a very rare genetic syndrome with around 250 reported cases worldwide.  It's caused by a sporadic mutation of an oncogene. An oncogene is a gene that causes cancer, children with Costello Syndrome have a 15% increased risk of developing cancerous tumours, we live with this risk every day.  This week Daisy nearly became one of the costello statistics.

We have been concerned for a long while that we might have been missing something with the pain Daisy gets from her bladder and abdomen, the protocol for children with Costello Syndrome is that they should have regular ultrasounds to check for tumours, and with any unexplained pain or lumps there should be a high index of suspicion for tumour development.  So last Tuesday I took Daisy along for her screening ultrasound to our local hospital, Theo was off school that day, recovering from one of his migraines so I brought him along too to distract her.

We call ultrasounds "jelly on the belly" and over the years Daisy has had hundreds of them and is very used to them, we go along to outpatients,  say hello to the staff and hope to see the nurse we always refer to as "JennyfromXray", we have a picture of Jennyfromxray with Daisy as she had her first ever ultrasound at only a couple of days old.