The world’s oldest person known to be living with the rare disease MSMD, today welcomed the announcement of an NHS rare disease collaborative network dedicated to sharing expertise on the condition.
Geraldine, a retired teacher aged 75, was one of the first in the world to be diagnosed with MSMD (mendelian susceptibility to mycobacterial disease).
MSMD is a rare genetic disease that affects the immune system, increasing risk of severe infections.
Geraldine’s twin sister, Elizabeth, is also thought to have had MSMD, but died in 1966 before the condition was known about. She died of an infection, aged 17, after five years in hospital.
People with MSMD can develop severe infections in different parts of their body. For Geraldine, this has usually been her spine. When she was 15, she spent a year in hospital in Edinburgh alongside her twin under the care of renowned physician Sir John Crofton.
In 1982, an infection made Geraldine's spine so weak that she needed to be immobilised in a plaster bed. She was unable to leave the bed for 22 months, while the infection was treated and her spine healed.
In the early 1980s, Dr Dinakantha Kumararatne became involved in Geraldine's case. He made early clinical observations that helped to define MSMD.
Dr Kumararatne, who joined Cambridge University Hospitals NHS Foundation Trust (CUH) in 2000 as a consultant immunologist, helped identify Geraldine's condition and continues to be involved in her care.
Around 150,000 people in the world are estimated to have MSMD, but many are currently undiagnosed. The disease is extremely difficult to diagnose as its severity varies greatly between people.
MSMD is caused by genetic changes that weaken the body’s defences against infections. People with MSMD are particularly at risk of infections caused by a group of bacteria called mycobacteria. This includes bacteria that cause tuberculosis.
Without specialist care, people with MSMD develop multiple, long-lasting infections that can quickly become life-threatening. In some cases, the infections are caused by species of bacteria that would typically be harmless to humans.
Like Geraldine, people with MSMD often depend on treatment involving long-term, carefully monitored use of antibiotics. More severe cases can require bone marrow transplants.
Rare disease collaborative networks (RDCNs) are an important part of the NHS architecture initiated by NHS England.
The new RDCN for MSMD will play a key role in advancing diagnosis and treatment for this complex disease. Led from Cambridge, the network also includes Oxford and Newcastle. The network will also increase alignment between paediatric and adult care.
Geraldine describes the network as a brilliant idea. She said:
I’m alive today because I’ve had access to specialist care. I was lucky, I knew the right people who understood what was wrong and were able to get me the treatments I needed. This network will help more people to get that vital support.
RDCNs bring people with rare diseases together with leading scientific and clinical expertise to improve our understanding of rare diseases, the effects they have on people, and to help improve care and support for patients.
It will be led by Dr Effrossyni Gkrania-Klotsas a consultant in infectious diseases at CUH, who provides specialist care for people with MSMD.
By encouraging collaboration and raising awareness in the UK and beyond, this network will make a huge difference for people with MSMD. By working together we hope that many more people can be diagnosed and treated sooner. We don’t just want to improve care but also to make it more accessible so that patients can get the specialist support they need closer to home.
Dr Gkrania-Klotsas
The UK already plays a leading role in advancing our understanding of MSMD, thanks to a unique combination of research and clinical expertise.
Partners in the RCDN include clinical and academic experts on mycobacterial infections and regulation of the immune system:
- Dr Smita Patel, consultant immunologist at Oxford University Hospitals NHS Foundation Trust
- Professor Sophie Hambleton, honorary consultant in paediatric immunology and infectious diseases at The Newcastle upon Tyne Hospitals NHS Foundation Trust
- Professor Andres Floto, honorary respiratory consultant at Royal Papworth Hospital NHS Foundation Trust and Professor of Respiratory Biology, University of Cambridge
- Professor Lalita Ramakrishnan, Professor of Immunology and Infectious Diseases, University of Cambridge
Rare disease collaborative networks are a vital aspect of how NHS England delivers meaningful support for the more than 3.5 million people in the UK affected by rare conditions. By bringing together multidisciplinary teams with outstanding knowledge and expertise in rare diseases, these networks deliver impactful research, improve care and deliver maximum benefit for patients.
John Stewart, National Director for Specialised Commissioning at NHS England
At CUH, the RCDN team will include Dr Kumararatne and Dr Rainer Doffinger, a consultant clinical scientist in immunology, who has collaborated internationally to develop tests to diagnose MSMD.
Geraldine has been under the care of the team at Addenbrooke’s Hospital since 2000. She lives near Basingstoke and stays active with the help of her pets including two Shetland ponies and a rescue dog called Alice.
Find out more about Rare Disease Day and the importance of supporting the 1 in 17 people that are living with rare diseases.
Sally and Dylan's story - Bringing together care for adults and children
Sally, age 41 from Thurrock, Essex, is another patient with MSMD. She was first referred to Addenbrooke’s aged 17. Her son, Dylan, also has the condition.
Thanks to advances in understanding MSMD, Dylan was able to be tested at birth so he could start treatment right away. The support both Sally and Dylan receive from the team at Addenbrooke’s allow them to live normal lives.
Speaking about the RDCN, Sally said: “I was nine when I first started to feel unwell. It wasn’t until I was 17 that I was referred to the team in Cambridge by a doctor that had heard about Dr Kumararatne’s work.
“The network could make a huge difference, helping more people like us to get specialist care, and ensuring more people understand the condition. We get excellent support at Addenbrooke’s. If more doctors knew about the condition, it would save us a lot of stress and frustration, and it’d mean other people with MSMD can get help sooner.”
The RCDN brings together specialist teams working with both adults and children. This will help more people with MSMD to get diagnosed sooner, and will enable greater support for families affected by MSMD allowing more children to be diagnosed soon after birth.