Man with rare form of motor neurone disease receives first dose of Tofersen, urges wider access
Conaire Quinn, 38, who has a nine-year-old daughter, received the drug at Altnagelvin Hospital and says more people should be able to get the treatment
A 38-year-old man from Ballynahinch has received his first dose of a drug for a rare form of motor neurone disease (MND) and is calling for the treatment to be made available to as many patients as possible.
Conaire Quinn, who has a nine-year-old daughter, received his first Tofersen treatment via lumbar puncture at Altnagelvin Hospital in mid-August. Quinn said the diagnosis has made him acutely aware that "my time is precious" and that the drug could give him more quality time with his family.
Quinn said he first noticed symptoms around the time of the Covid-19 pandemic when he felt his foot dropping. He described stumbling while walking, difficulty getting upstairs and ongoing abdominal pains and cramps. He said the moment that prompted him to seek medical help came at a Manchester United match, when he was pulled up from the terrace and immediately told by clinicians it was likely a neurological issue.
He said he initially thought the problem might be a sports injury but that subsequent investigations led to the MND diagnosis. Quinn has urged that Tofersen be made freely available to as many eligible patients as possible, saying it could extend meaningful time with his young daughter.
Tofersen is intended for a rare form of MND associated with mutations in the SOD1 gene and has been the subject of clinical trials and regulatory review in several countries. The treatment is administered directly into the spinal canal by lumbar puncture and is designed to reduce the levels of the SOD1 protein believed to play a role in the progression of the disease.
Clinicians monitoring patients receiving the drug collect data on neurological function and side effects to assess benefits and risks over time. For patients with progressive conditions such as MND, early intervention can be an important consideration when assessing potential treatments.
Access to new therapies for rare neurological diseases has been a subject of debate in health systems worldwide, as regulators, clinicians and patient groups weigh clinical evidence, cost and availability. Quinn and other patient advocates say that decisions about access should prioritize those who could benefit, particularly where a treatment offers the prospect of slowing decline or extending meaningful life with loved ones.
Quinn said the treatment gave him hope and that he wanted others with the same diagnosis to have the same opportunity. He will continue to be monitored by his clinical team following the initial administration.
Health services and regulatory bodies will consider clinical data and practical arrangements as they determine how and when to make treatments like Tofersen available more widely. For patients such as Quinn, the question of access remains immediate: he and his family are awaiting further assessments and the course of treatment while urging policymakers to consider broader availability.