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Patient voice

MNGIE: Verity Grainger’s mission to raise funds for a life-saving therapy

by Geoff Case

MNGIE: an ultra-rare, life-shortening genetic condition

MNGIE (mitochondrial neurogastrointestinal encephalomyopathy) is an ultra-rare life-shortening genetic condition in which a gene mutation blocks the production of a particular enzyme, causing a build-up of metabolites in the blood that damages mitochondria. MNGIE impacts many areas of the body and causes it to slowly degenerate. The disease is incredibly rare with fewer than 200 cases documented worldwide.

MNGIE (mitochondrial neurogastrointestinal encephalomyopathy) is an ultra-rare life-shortening genetic condition
Zillah, Verity and Gail

Verity Grainger’s long diagnostic journey

Verity was diagnosed with MNGIE in 2016, but it was many years before this that her symptoms started.

Verity remembers gastrointestinal issues beginning in her late teens, with symptoms such as vomiting, stomach cramps and diarrhoea. She has always been petite, and doctors regularly tried to increase her BMI but without success.

Verity’s gastrointestinal symptoms continued to plague her life into her twenties and became more frequent and disabling. Her husband, Joshua, describes how debilitating Verity’s symptoms had become by 2014 when he first met her: “Her symptoms were crippling. It seemed any meal attempted would be shortly followed by excruciating stomach cramps, bloating, diarrhoea and vomiting. It was so distressing for me to see someone in so much pain.”

Alongside these unpleasant symptoms, Verity was continuing to lose weight, and this prompted a return to the doctors. She had several tests to try to find out the cause of her weight loss and why it was from such unusual places.

Verity was referred for an endoscopy and colonoscopy, but it was impossible to take a biopsy properly as her intestines were too inflamed. Despite this, Verity was told that it was almost certain that she had Crohn’s disease, and she was prescribed a course of steroids—this condition shares many of the same symptoms as MNGIE.

Sadly, Verity’s condition worsened, and she was rapidly losing weight. In December 2015 she was hospitalised; her body was rejecting anything she ate, and she needed medical intervention to help regain her strength. Before Verity’s discharge from hospital, she was taken off steroids and put on an immunosuppressant drug, azathioprine, to calm her immune system.

Very shortly after, in January 2016, Verity developed an extreme fever and rapid heart rate and was rushed back into hospital. Doctors were baffled as to what was causing these symptoms and began an intensive search for answers. After five nights of severe illness and intensive care, the doctors realised that Verity had been having an allergic reaction to the azathioprine. This was something they had never seen before.

One of the tests carried out during the investigation was a brain scan, and this revealed abnormalities. Consequently, doctors performed blood tests to rule out the possibility that Verity might have the very rare condition MNGIE. But that diagnosis—thought to be so unlikely in Verity’s case—was confirmed.

Verity’s eldest sister, Gail, was also diagnosed shortly afterwards. She had been a mystery to the gastro team, who seemed unable to work out why she was experiencing such severe symptoms and weight loss. After Verity’s diagnosis Gail was asked to have a brain scan and blood tests that sadly showed she too had MNGIE. It was not until 2019 that her elder sister, Zillah, was also diagnosed with this incredibly rare condition.

Tragically, Gail died in January 2021 from complications of MNGIE. She was only 42 years old. Gail and Verity were incredibly close, and the family all miss her greatly; Verity’s son, Noah, knows her now as Aunty GG in the stars.

MNGIE (mitochondrial neurogastrointestinal encephalomyopathy) is an ultra-rare life-shortening genetic condition
Gail and Noah

Enzyme replacement therapy: a costly but life-saving treatment

The diagnosis of such a rare condition was, of course, a terrible shock for Verity. Understandably, when she discovered that treatment options were seriously limited, Verity felt isolated and scared. She has been offered a bone marrow transplantation, but this comes with considerable risk. Verity says that “a previous trial of this in patients with MNGIE was overwhelmingly unsuccessful and the results of this make for grim reading”.

However, much more promising results have been achieved in clinical trials of enzyme replacement therapy, and this is a much safer treatment.

Enzyme replacement therapy works by encapsulating the missing enzyme in red blood cells before it is given to the patient by intravenous infusion. If the enzyme were directly injected into the bloodstream, the body’s immune system would recognise it as a foreign protein and rapidly break it down. Encapsulating the enzyme in red blood cells enables it to evade the body’s immune response, allowing it to survive long enough for the treatment to work. Thanks to the infused enzyme, the body is now able to remove the mitochondria-damaging metabolites from the bloodstream.

Enzyme replacement therapy has now been approved for compassionate use, but at approximately £500,000 it is a very costly treatment. Having seen first-hand the devastating consequences of the disease, with Gail’s untimely death, Verity and her family are determined to fight MNGIE, regardless of cost. If they can raise those funds for the life-saving treatment at St George’s University Hospital in London, it will help not only Verity but also her sister, Zillah.

Drawing deeply on her inner strength, Verity continues to work as a primary school teacher—which she has done throughout the pandemic—while she uses crowdfunding to raise funds for a life-saving treatment on compassionate grounds. Driven by her desire to see her little boy grow up but weakening with each day, Verity knows that time is not on her side.

MNGIE (mitochondrial neurogastrointestinal encephalomyopathy) is an ultra-rare life-shortening genetic condition
Verity and baby Noah

Verity Grainger can be found on Facebook and Twitter.


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