A toddler who spent the first three years of his life in and out of hospital has been diagnosed with a rare genetic condition.

Before Ralph was even born, concerns about the size of his head were raised during mum Bernice’s 20-week pregnancy scan.

After being delivered by caesarean at Northampton General Hospital in March 2023, he underwent months of scans, testing and physiotherapy before doctors eventually diagnosed him with PTEN Hamartoma Tumour Syndrome (PHTS), a condition his paediatrician admitted he had never encountered before.

In the months following, Bernice and Ryan spent as much time as they could learning about PHTS, which causes benign growths, a large head and higher risk of developing some cancers.

Bernice said: “Ralph’s paediatrician was extremely honest with us and explained he had never heard of it either.

“He gave us some wonderful advice but most importantly suggested we find out as much information as we can. He said we should join groups, research doctors and learn as much as we could to advocate for Ralph in a world where conditions like PTEN are widely unknown.

“We took his advice and spent some time trying to get our heads around the fact this is now very real, scary and unknown, but the best thing we could do was to educate ourselves and the people around us for Ralph.

“We were both tested to see if we carried the gene mutation and discovered neither of us did and it was not inherited.”

When Ralph was just two-years-old he visited hospital more than 17 times, for stays stretching anywhere from five days to two weeks.

Research suggests his condition makes him more susceptible to immune and respiratory problems, and he is now receiving treatment from respiratory, ophthalmology, ENT and urology specialists, along with care from physiotherapists and paediatricians.

The family says one of the turning points of their journey was finding the PTEN UK and Ireland Patient Group.

It is funded by Jenes for Genes, an annual charity campaign where people donate to wear denim in aid of genetic conditions.

Bernice added: “We know this is the start of Ralph’s journey but he is such a wonderfully happy and smiley boy who absolutely loves life.

“Finding the patient group has truly changed our lives in so many ways. We are so supported by the entire community. The resources and knowledge we have been able to access has shaped how we support Ralph and understanding this condition.

“Due to the complexity of Ralph’s condition and the amount of hospital support and appointments he has, I have taken a break from my career as a teacher to focus on caring for and supporting Ralph.

“As a family this diagnosis has changed everything, but with the help and support of the patient group community we know we are not alone. We are so grateful for the work Jenes for Genes do in helping to fund its work.”

Visit jeansforgenes.org to find more about the event and take part from September 14-20.