Joshua Hartley 30 and Nathan Hartley 28 and their two brothers had bone marrow transplants as children but have experienced health challenges.
Brothers Joshua Hartley and Nathan Hartley are calling for more research into XLP, a rare and severe, inherited condition that 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 with some developing 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, Nathan, Daniel and Luke, who were diagnosed with XLP in 2003, as their best option to cure the condition. All four brothers, Joshua 30, Nathan 28, Daniel 26 and Luke 22 had ‘successful’ bone marrow transplants as children, but have had some complications and ongoing health problems as a result of these. David and Allison Hartley have since set up the XLP Research Trust to support families affected by XLP. The charity, Action Medical Research, has for several years been funding research to try and develop an alternative to bone marrow transplants to help more boys with XLP.
X-linked lymphoproliferative disease (XLP) is a rare inherited condition that affects an estimated one in every million boys worldwide.1 Boys affected by XLP are at an increased risk of developing recurrent life-threatening infections with some developing a type of cancer called lymphoma and some a severe inflammatory syndrome called hemophagocytic lymphohistiocytosis (HLH) which can be rapidly fatal.2,3 While XLP is rare, it is a devastating disease and untreated, sadly 70% of boys with the condition lose their lives by 10 years of age.1 While a bone marrow transplant can cure the condition, it can be challenging to find a good match and a bone marrow transplant is a long and complicated process.4 Therefore more options to treat and ultimately cure XLP are urgently needed to help more boys survive the disease.
Joshua Hartley says, “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 Hartley 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 experienced mental health challenges. Nathan explains “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 and this has helped.”
Action Medical Research has for many years funded research into gene therapy for XLP. Gene therapy aims to repair changes in genes that cause disease by inserting a functioning copy of the affected gene into a cell’s genome (DNA) to make up for the altered copy.5 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 and there is no risk of graft versus host disease (GvHD) which can cause significant problems after a bone marrow transplant.
With the help of Action Medical Research funding, Professor Claire Booth, Mahboubian Professor in Gene Therapy and Paediatric Immunology at UCL GOSH ICH and Consultant in Paediatric Immunology, Great Ormond Street Hospital, has carried out research into a new T-cell gene therapy, with some promising results. She explains: “We have carried out extensive laboratory tests on our new T-cell gene therapy, with encouraging results and are aiming to start a clinical trial in 2023, with the hope of developing a cure for boys with XLP that will enable them to live normal lives. We are also exploring newer gene editing technologies to develop even safer and more effective ways to treat patients with XLP.”
“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,” says Dr Caroline Johnston, Senior Research Manager, Action Medical Research.
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About Action Medical Research
Action Medical Research is the leading UK-wide charity dedicated to saving and changing children’s lives through medical research. For 70 years we’ve helped pioneer ways to prevent disease and develop treatments benefiting millions of people. Our research has helped to beat polio in the UK, develop ultrasound in pregnancy, fight meningitis and prevent stillbirths. But we urgently need to develop more new treatments and cures for sick babies and children and we can’t do it without you.
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About the XLP Research Trust
The XLP Research Trust was established in 2005 to help and support other families whose lives have been impacted by XLP and to fund medical research.
About the Hartley family
- In November 2003 David and Allison Hartley’s four sons Joshua – aged 11, Nathan – 9, Daniel – 7 and Luke – 3, were diagnosed with a rare genetic condition known as X-Linked Lymphoproliferative Syndrome (XLP1). The family were told that the only life-saving cure would be a bone marrow transplant. All their sons were treated at Great Ormond Street Hospital.
- Joshua, now aged 30, had a bone marrow transplant in June 2004 aged 12. The transplant itself went very smoothly, although there were some complications including Graft Vs. Host Disease and the impact of being on a prolonged course of steroids. Joshua is now registered disabled. Joshua obtained a BA in Childhood Youth and Community Studies and a Masters in Disability studies. He currently works as a support worker for young adults.
- Nathan, now aged 28, had a bone marrow transplant in October 2005 at the age of 11. He achieved 11 GSCEs but has experienced challenges with his mental health and is currently looking for work.
- Daniel, now aged 26, had his transplant in 2005 aged 11 and now works as a chef.
- Luke, now aged 22, had two bone marrow transplants – one when he was aged 7 and then when he was 8. He is also now a manager at a local restaurant.
References
1. Great Ormond Street Hospital for Children, “X-linked lymphoproliferative disorder (XLP1),” GOSH, Oct 2018. [Online]. Available: https://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/x-linked-lymphoproliferative-disorder-xlp1 . [Accessed August 2022].
2. XLP Research Trust, “XLP1 & XIAP Info,” XLP Research Trust, Dec 2020. [Online]. Available: https://www.xlpresearchtrust.org/learn/more-info. [Accessed August 2022].
3. Medline Plus, “X-linked lymphoproliferative disease,” US National Library of Medicine, [Online]. https://medlineplus.gov/genetics/condition/x-linked-lymphoproliferative-disease/. [Accessed August 2022]
4 NHS. What happens. Stem cell and bone marrow transplants. Available at: Stem cell and bone marrow transplants - What happens - NHS (www.nhs.uk). [Accessed August 2022].
4. NHS. What happens. Stem cell and bone marrow transplants. Available at: https://www.nhs.uk/conditions/stem-cell-transplant/what-happens/. [Accessed August 2022].
5. MedlinePlus. What is gene therapy? Available at: https://medlineplus.gov/genetics/understanding/therapy/genetherapy/. [Accessed August 2022].