Rare Disease Day: Sisters battling rare condition renew £500,000 appeal to pay for pioneering treatment

Two sisters battling a rare life-threatening disease are renewing their appeal to help pay for pioneering new treatment.

Verity Grainer, 33, and her sister, Zillah Scorer, 39, suffer with a rare degenerative genetic condition know as MNGIE (mitochondrial neurogastrointestinal encephalomyopathy).

The condition is so rare there are only around 200 documented cases worldwide. Sadly, their eldest sister, Gail, succumbed to complications of the disease in 2021, aged just 42.

Unfortunately there is no proven treatment available on the NHS. However trials of a pioneering treatment known as Enzyme Replacement Therapy conducted 2019, could help.

It has been approved for compassionate use but costs an estimated £500,000, with an appeal set up 12 months ago to help pay for treatment for both Verity, who lives in Wrestlingworth, and her sister. The appeal has now been re-launched to mark Rare Disease Day on February 28.

The treatment works by encapsulating the missing enzyme (thymidine phosphorylase) in red blood cells, allowing it to survive long enough without the body’s immune response breaking it down.

Verity’s husband Josh said: “This treatment has been given approval via St George’s University Hospital in London and we have a neurologist signed up to oversee the trial. The huge sum will cover the neurologist, the continued manufacturing of the enzyme and any patient costs.

“We have established a crowdfunding page and have been overwhelmed by the response having raised over £175,000. This is great, but we acknowledge that our target is enormous and we need all the help we can get in sharing our story and raising awareness of this unfamiliar condition.

He added: “Time is not on our side. We have witnessed first-hand how unmerciful and cruel this condition is, having seen Gail succumb to this disease in January of 2021 and my wife is now beginning to experience some of the more sinister symptoms of this condition.

"Verity is an incredible and brave human. Despite her diagnosis she continues to remain positive and is the most fantastic mother to our son, Noah. She is a teacher at Tannery Drift First School, in Royston, and throughout the pandemic she continued to teach in the classroom, putting her life at risk to look after her class.

"We have had so many donations and messages of support with one of the pupil’s parents set to run his second marathon for our cause.

“I know I couldn’t live with myself without knowing I’d tried everything to help my wife and our family and for any help in spreading our story as far and wide as possible.”

Verity recalls: "I was just really stunned after getting the diagnosis. My first thought was what can I do to fight it?"

“Getting this treatment would give me hope and time to see my baby boy grow up. My sister died when she was in her early 40s. If that happened to me, Noah would be 12.

"If it could stop the decline and keep me where I am, that would give me a future”

Both Verity and Zillah would need to attend hospital every four to six weeks for treatment, allowing them to lead a fuller life.

You can read more and donate via their JustGiving page here