New charity launched to support families affected by rare genetic condition MORC2

Anna-mai Andrews has launched global charity MORCure after her daughter Amber was diagnosed with MORC2, an ultra-rare genetic condition, in 2022.

MORC2 affects the nervous system, including the brain, spinal cord and nerves. It can cause movement difficulties, sensory problems and changes in brain function that affect learning and understanding.

Amber’s early years

Anna-mai’s pregnancy with Amber was no different from her pregnancy with her son, Sammy. However, Amber’s birth during the Covid pandemic was complicated by an emergency undetected breech delivery, despite passing all her newborn checks.

As a baby, Amber suffered severe eczema and cradle cap, but there were no obvious signs of her underlying condition. At six months old, following routine vaccinations, her leg suddenly swelled to twice its normal size. Initially doctors believed the condition could be treated under local anaesthetic, but after seeking advice from family members working in healthcare,  Amber underwent emergency surgery.

The family’s first year with Amber was particularly difficult, coming just months after Anna-mai lost her father.

Anna-mai said, “The baby physical milestones for Amber kept being pushed back as they were putting it down to her leg infection although I kept questioning why she couldn’t sit up without falling over and couldn’t understand why she hated the baby swing. There were lots of things that didn’t make sense. During her first year she had many serious infections and was given IV antibiotics four times. I said this isn’t normal however I kept being told I was anxious parent. Amber then got Chickenpox and was so poorly she got a secondary infection and was nearly sent home with sepsis. I thought at this point she was going to die. It was a hideous time. At the time we were in a national health crisis. It was not a great time to have a really sick child as the services were so stretched.”

Receiving a diagnosis

After months of uncertainty and further testing, the family sought help from a private neurologist for genetic testing. Amber became only the second person in the UK to be diagnosed with MORC2-related-disorder.

Reflecting on the diagnosis, Anna-mai said, “It was a time of relief, but at the same time the diagnosis came with more questions. Initially the Doctors thought Amber had Ataxia-telangiectasia, which is a life limiting condition so M2RD seems like a better prognosis. I appreciate so many of the little things she can do like walk from one room to another when I was told she wouldn’t walk at all. We also received confirmation that Sammy didn’t have the rare genetic condition which was huge relief.”

Amber later underwent brain scans, a full heart ECG and an invasive nerve test.

Anna-mai explained, “Her Dad took her for the nerve test. He said it was horrendous as she was screaming throughout, he compared it to the electric shock treatment used in war zones. Amber’s treatment plan started with a blank canvas with us being told we could try this or that experimental treatment. After Amber started having tremors, we were offered for her to take Parkinson’s drug Levodopa (L-Dopa) but this had unknown and potentially dangerous side effects for children. Seeing her tremor was very scary, we were afraid she was going to start seizures”.

Living with MORC2

Now seven, Amber attends Trinity School, where she wears leg braces, a splint on her right foot and uses crutches alongside ongoing medication.

Anna-mai said, “Just to get out of the house is a real challenge and managing the blisters, particularly in the heat last week is tough. Trinity have been amazing, she has most wonderful teaching assistants who have been with her since Reception. She is truly loved at that school”.

The family were also delighted to enjoy their first skiing holiday together this year, alongside Amber’s older brother Sammy, aged nine.

Launching MORCure

Determined to improve support for other families, Anna-mai founded MORCure to fund research and provide a global support network for people living with MORC2.

The charity has partnered with the Medical School at the University of Cambridge on a dedicated research project led by leading scientist Dr Yorgo Modis, Professor of Virology and Immunology. The partnership was made possible through trustee David Beadle, whose pharmaceutical and therapeutics career created links with Cambridge.

Speaking at the charity launch at Harpsden Court, Dr Modis said, “I’m delighted to have entered this partnership with MORCure. What we’re doing is to apply a combination of state-of-the-art computational approaches, and some of these are assisted by AI. It’s really empowering because it’s allowing us to do things at a rate that we didn’t think was possible a few years ago. Progress is happening – we’re using molecular dynamics simulations. This is a long-term endeavour and it’s not going to be easy. I’m optimistic for the next few months and years – we are already publishing papers. We’re already understanding how things work. But to develop a medicine is a long-term composition, and it’s not going to be easy, but I look forward to the challenge.”

Anna-mai added, “Cambridge is a source of amazing innovation. Dr Modis has done so much more than others that I have worked with and the support he has offered us.”

Looking ahead, she hopes the charity will not only help fund treatments but also ensure families never feel isolated.

“I hope alongside that we offer support and friendship, understanding and a listening ear so no one is alone. I don’t want families to be in crisis on their own. Peer support is so important. Amber’s prognosis is really unknown as there is not enough evidence yet. It is just something we are all living with and living in the moment. She is vulnerable and we don’t know why she doesn’t repair from infections and why her immunity is so low.”

Thanking everyone who attended the launch, Anna-mai said, “It was amazing for Gigi and Ian to host and there was a real sense of community. We have received some wonderful fundraising pledges including an amazing pledge from the Deputy Mayor that she will choose MORCure next year when she is Mayor.”

To find out more about MORCure, visit https://morcure.org/.