A ROMSEY family plagued by a rare and severe inherited illness have called for further research into the condition - years after a series of lifesaving surgeries.

Brothers Joshua and Nathan Hartley are pushing for more progress to be made made on XLP, a potentially fatal disorder which affects the immune system.

The disease is caused by a single faulty gene and affected boys have an increased risk of developing recurrent life-threatening infections and a type of cancer called lymphoma.

Symptoms can be treated but the best option is a bone marrow transplant that can cure the condition.

However, this depends on finding a good donor match, which can take time and is not always possible.

The boys’ parents, David and Allison Hartley, led a call out for bone marrow donors for their four sons, Joshua, 30, Nathan, 28, Daniel, 26, and Luke, 22, who were diagnosed with XLP in 2003, as their best option to cure the condition.

Hampshire Chronicle: David and Allison Hartley with their son, Nathan David and Allison Hartley with their son, Nathan (Image: Action Medical Research)

All four brothers had ‘successful’ bone marrow transplants as children, but have since suffered complications and ongoing health problems as a result.

David and Allison set up the XLP Research Trust at the time to help find a cure for the condition and ensure other families don't have to suffer the same ordeal.

A charity called Action Medical Research has, for several years, been funding trials to try and develop an alternative to bone marrow transplants to help more boys with XLP.

Now, as part of World Marrow Donor Day which took place on Saturday, September 17, Joshua and Nathan want that work to be accelarated to help save even more lives.

Joshua said: “I was 12 when I had my transplant and because of my 9/10 match, it saved my life. However, there were setbacks, I missed a year of school and developed Graft versus Host Disease, where the donor cells attacked my cells.

"I also developed a skin condition called scleroderma, where my skin has become thicker, which has affected movement in my hands, ankles, and legs. I take quite a few drugs to manage this condition. Even though I am registered disabled, I’m happy to be alive, there needs to be more research into new treatments for XLP.”

Nathan had his bone marrow transplant aged 11. He experienced a reaction to one of the medications and had to be put in a medically induced coma. Although Nathan has recovered physically from the bone marrow transplant, he has since experienced mental health challenges.

He said: “I started to suffer mental health problems at college and I had to leave university as I had a mental breakdown. I now realise that the bone marrow transplant had a bigger impact on me than I thought. I get flashbacks about the treatment and suffer from panic attacks. I have been seeing a counsellor and I am part of mental health support groups which has helped.”

While XLP is rare, it is a devastating disease and, when untreated, 70 per cent of boys with the condition lose their lives by the age of 10. 

One possible cure which is being explored is gene therapy. One of the key benefits of gene therapy is that it uses the patient’s own cells, so there is no need to find a well-matched donor. Risks of further complications following the transplant are also lowered.

Action Medical Research funding has already helped progress studies into such treatments at Great Ormond Street Hospital, with a clinical trial pencilled in for 2023.

Dr Caroline Johnston, senior research manager at Action Medical Research, said: “Action Medical Research is committed to funding research into rare childhood diseases like XLP to help families like the Hartleys.

We are really excited to see how research in this area is developing and are proud to be helping to work towards a cure for boys with XLP.” 

To find out more visit action.org.uk