Elijah’s story

Two-year-old Elijah Middleton was born with a rare genetic condition called PTEN hamartoma tumour syndrome (PTEN / PHTS for short). There is no cure or treatment available for this condition, which has wide ranging symptoms and carries an increased risk of certain cancers.

Parents Becky, 30 and Tim, 31, from Carmarthenshire, first noticed Elijah wasn’t meeting his developmental milestones during his eight week check-up. Elijah was born weighing 10lb 1oz and with a very big head and at eight weeks old his muscle tone was too low to support his head. He also had delayed motor development. He was referred to a paediatric consultant where he had a number of tests and assessments and then onto a geneticist who straight away suspected PTEN syndrome. PTEN syndrome is caused by changes in the PTEN gene, which is a tumour suppressor. An alteration in this gene can lead to non-cancerous tumours and increase the lifetime risk of some types of cancerous tumours too. Elijah’s genetic testing came back positive, and the family got a diagnosis in October 2022, when he was 15 months. By then his gross motor skills and speech and language were very delayed.

Becky explains: “After the geneticist explained what PTEN was and the symptoms associated with it, it sounded so much like Elijah. We were almost expecting to hear that the test was positive for PTEN, but it was still a massive shock. We all had blood tests, including our eldest son Asher, who is four, but none of us have the condition. We really don’t know what the future holds as it can cause fatty lumps which can be cancerous. So far Elijah has just had a scan on his abdomen for lumps. He has vomiting episodes which means he loses weight. He always seems to be poorly as his immune system is not great.

“There is a lot of guesswork in looking after Elijah as he doesn’t communicate his needs. He has very few words so can’t tell us if he is hungry or thirsty. He struggles to understand that a ball means we play, or a bath is bath time. He doesn’t always respond to speech, but it is too early for an autism diagnosis.”

Speech and Language have been supporting him and providing strategies to better support Elijah and his family. The family are waiting for a referral to a dermatologist to check Elijah’s skin for lumps that may become cancerous. When he is around seven, Elijah will be monitored for any lumps on the thyroid gland. He has physio for his low muscle tone, balance, co-ordination and hypomobility. During the summer he will have six weeks of hydrotherapy. He is also having hearing tests and waiting to have an overnight pulse oximetry sleep study.

Becky says: “The diagnosis period has been very stressful on family life. Tim now works at home, he’s a Learning and Development Advisor, so he can help when he can, but it’s not easy. I’m with Elijah 24/7. I have to get in the bath with him as his muscle tone is too low to sit safely. He slumps when he is eating and bathing. We are waiting for a specialist highchair and bath chair which will make a big difference. My family are an hour away and Tim’s family are in Shropshire, so we have no family close by. Going out and doing normal family activities are so difficult for us. We hadn’t been on a holiday together with the children due to Covid and then it just seemed too scary and daunting.”

The couple applied for the Sandcastle Trust’s programme Sandcastle Memories, which offers respite for families living with a rare genetic condition, in the form of UK breaks and days out.

The Sandcastle Trust wanted to help Becky and Tim create special memories with Elijah and Asher and were able to arrange a week’s stay in May at Calcite Cabin, Trevassack Lake in Cornwall.

“I broke down in tears when I heard we had been granted the holiday,” Becky says. “After all the assessment and diagnosis, we had gone through a rollercoaster of emotions, for the Sandcastle Trust to say you can get away, have a break from the hospital appointments and take a step back and just be a family, was such a blessing for us all.”

“The house was perfect. It was gated off and Elijah could crawl around safely. We went to soft play, an aquarium and visited a farm. The beach was so close we were back and forth to it every day. It was nice to see Elijah’s face light up. We also walked around the Lizard and took a trip to Newquay. The area is beautiful and so peaceful. Then once bedtime hit Tim and I chilled out in the hot tub.”

Becky adds: “The boys loved the holiday and for us it helped us to relax and was great to give our minds some respite. We had been feeling a lot of anxiety about what the future would be like but the week in Cornwall gave us a breather from our everyday life, it changes your outlook and your ability to cope with the condition. It gave us confidence, look what we could do in a week! We can’t thank the Sandcastle Trust enough.

“Amazingly Elijah tried to stand up in the sand which was really exciting for us as he wasn’t standing independently before. He seemed so much more engaged and enjoyed spending time as a whole family. It was such a great week!”