These were not the words we were expecting after our first scan with our second child. The baby was just 12 weeks in the making and the scan that was supposed to be the most exciting bit, really wasn't. What it did end up being was the start of a new journey for our baby and us. Months of monitoring, scans, measurements and procedures to try and establish exactly what was 'wrong' with the child I was carrying.

Fast forward to week 30 of my pregnancy and we meet a genetics consultant, Tessa who proclaimed as soon as we walked into the room: "Whatever this baby has, your husband has too". It was then, finally, we were given a name, a syndrome - Gorlin Syndrome. A genetic condition with a host of possible different physical issues that may or may not be present at birth or develop in our new baby. A definitive diagnosis would be made upon the baby's arrival when they would take blood for testing. He (because by now and the various tests we had undergone we were told we were expecting a boy) was induced due to his large size head (we later found out this is quite a common trait for GS sufferers) and our gorgeous son was born by caesarean section - turns out there was no way I was going to deliver him naturally – despite any best efforts!

Fast forward 20 years and life with not one, but two men with GS (my husband was formally diagnosed aged 35 shortly after we met Tessa) has been a bit of a roller coaster to say the least. Finding medical support was hard to start with, no one seemed to know what Gorlin Syndrome was and if they did it was in the deep, dark study books of their training. Gorlin Syndrome is a genetic condition most likely inherited, in our case my husband was the first mutation, and our son (but interestingly not our eldest child) inherited the condition from him. The two types of Gorlin Syndrome are called PTCH1 and SUFU. We are in the PTCH1 sort, the blood tests confirmed this.

For us, this rare disease has meant being managed by a multi-discipline team in both London and Guildford hospitals. Our wonderful Maxillofacial Department carrying out an annual X ray (or if we are lucky a CT scan – as this provides a safer, more targeted radiation dose which is better as exposure can lead to increased number of BCCs – basal cell carcinomas), I think the current tally is of over fifty jaw cysts needing removal by general surgery between the two of them. Secondly, we see the Dermatology Department twice a year to have a full body check for anything suspicious either new or old on the skin, we have lost count how much skin has been removed to taking the BCCs and a good margin away. We joke about patchworks, but it isn’t really all that funny. Add to this they both have several fused ribs, palmar pits on their hands and feet plus of course the large head size which means no matter how many places you order from, finding hats to keep them out of the sun is an impossible task!

What I've learned about the rare disease isn't necessarily what it throws at you, but having the right medical professionals and community support. That is why I decided to become a Trustee of the Gorlin Syndrome Group (GSG), to help raise awareness of this rare disease and to support others with the condition. If you would like to learn more visit our website www.gorlingroup.org

-ENDS-

Notes to Editors

The purpose of this release is to raise awareness of a very rare disease for Rare Diseases Day on 28th February 2026. Our charity is wanting to increase awareness of our support group to those who may have recently been diagnosed or have been living with the condition unsupported for many years.

Please include our logo and if possible photo of author and son.

Thanks so much for your support, we are hoping to build up a registry in the UK to enable access to new medical trials to people with this disease.

For further information please contact: Claire Brunt - claire@gorlingroup.org

Logo

Images

Tags

More Like This

New insights highlight unmet needs for people living with Lennox-Gastaut syndrome and significant burden of the disease

Pierre Fabre Laboratories, committed to combating rare pediatric diseases via innovative therapies

Discovery of cancer risk associations for six novel genes

Stephen McGann launches health check for Liverpool’s most common, undiagnosed genetic condition

Report highlights economic benefit of population-based screening for genetic haemochromatosis in Northern Ireland

NEW TESTS TO IDENTIFY HEREDITARY CANCER RISKS TO BE LAUNCHED

Charity launch large-scale public awareness campaign for genetic condition with 1 in 10 at risk across Northern Ireland

The Progeria Research Foundation and Forge Biologics Announce Manufacturing Partnership to Advance Gene Therapy for Children with Progeria