'Having hope is really important': Cork woman on Huntington's breakthrough

Éadaoin Berkeley: 'I think it’s really good news and a great success story for myself and others in the Huntington's community.' Picture: Chani Anderson

A breakthrough treatment for Huntington’s disease has been welcomed as "hope for the future" by a Cork woman living with the devastating condition.

Huntington’s disease, a degenerative illness that runs in families, has been treated successfully for the first time in a gene therapy trial. 

Éadaoin Berkeley, aged 38, who received her shock diagnosis just 18 months ago, said of the breakthrough: “I think it’s really good news and a great success story for myself and others in the Huntington's community."

“Having hope is really important for the future.” 

She is hopeful it will mean better quality of life for people like her and could even "perhaps reduce the fatal consequences of the illness for some.” 

The disease can lead to dementia and paralysis among other life-changing symptoms. Up to now there has been no treatment. About 1,100 people in Ireland are directly affected at any one time and another 3,000 family members at risk. 

Éadaoin Berkeley is hopeful the breakthrough will mean better quality of life for people like her. Picture: Chani Anderson

“It means that there will be brighter opportunities to live a fuller and healthier life without some of the devastating impacts of the disease,” Ms Berkeley said. This will be especially true for future generations of patients, she hopes.

The disease, caused by a single gene defect, steadily damages brain cells over time. People whose parent has Huntington’s have a 50% chance of developing it.

This new gene therapy slowed the progress of the disease by 75% in patients after three years, University College London Huntington's Disease Centre discovered. 

Patricia Towey, Huntington’s Disease Association of Ireland’s Information and Services Coordinator, also welcomed the news. “The uniQure’s AMT-130 trial update is a very exciting development,” she said on Friday.

“We haven’t had such positivity since the gene was discovered in 1993. 

This is a really significant breakthrough with Huntington’s disease research because it is the first time ever that the course of the disease has been halted, that has never happened before.

She pointed out, however, that this is early days, saying: “We do need to contain our excitement until the therapy is licensed and available.”

She expects this treatment, like most new drugs, will be expensive initially.

“The cost and complexity of delivering this therapy is a concern,” she acknowledged. But if we measure this against the cost and complexity of Huntington’s disease, it is a choice that should be straightforward.” 

In the short term she called for investment in health services, saying getting help is “a significant challenge” now. There should be two specialist nurses in Ireland, but one is on long-term leave and no funding was offered for cover.

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This has left one nurse, based in Beaumont Hospital, covering the whole country. “If you compare that with Scotland, with a similar population, they have 20 specialist nurses or social workers working directly in the community,” Ms Towey said.

Scotland also has about 10 dedicated clinics while Ireland has none. “We need to address the lack of support for families currently and look at how we can deliver future life changing therapies,” she urged.

“Huntington’s disease researchers say that this exciting breakthrough will no doubt encourage other companies to get involved in developing therapies. This truly wonderful news brings great hope for the future.”