‘I am hopeful': Belfast woman with rare disease raises £7k for research and campaigns for access to new drug
Only around 200 people across the island of Ireland are known to have the often life-limiting condition, which worsens over time, affecting the sufferer's mobility and speech.
Walking has become difficult for Clare due to FA, but earlier this year she completed 168km on a static exercise bike — the distance between Belfast and Dublin — and raised over £7,000 for FARA Ireland in the process.
'There's no cure or anything for Friedrich's,' Clare explained.
'So all the money raised for the charity FARA Ireland goes towards research. I wanted to do something to raise awareness, but also raise funds.
'I set my target as £500 and I ended up raising over £7,000. I was delighted.'
Clare had been experiencing some symptoms with her balance and speech for a couple of years before her official diagnosis. She was also familiar with what to expect, as four of her father's siblings also have FA.
Friedreich's ataxia is an inherited neurodegenerative disease that damages the nervous system, particularly the spinal cord, peripheral nerves and cerebellum.
It's caused by a genetic defect and is passed down from both parents, meaning it's an autosomal recessive disorder.
'I am hopeful... I know there is so much research being done into Friedreich's ataxia'
'Although most people with FA get diagnosed at a young age, my dad's siblings were older too, so that made me think that it could be a possibility, but I was still surprised when it was formally diagnosed through genetic testing,' Clare explained.
'Late-onset FA is a strange mix of feeling sad about the diagnosis and worrying about the future, and feeling happy that I had such a great life with no limitations until now.
'I'm lucky I'm still kind of working full time and I'm still able to drive at the minute, but walking, especially on uneven ground, has become quite hard. I cannot use stairs without a banister and I can't walk downhill.
'I would have really taken certain things for granted up until a couple of years ago — going to a concert or just going out for dinner or whatever. So everything is a wee bit more pre-planned in that sense.'
Despite the adaptations she has had to make to her life, Clare wants to emphasise her optimism and hopeful attitude — and she wants to help other people with FA feel the same.
'I am very positive. I know there is so much research being done into Friedreich's ataxia and other neurological conditions, so I am very hopeful that the lives of people with FA and other ataxias will be changed for the better.'
While Clare's father doesn't have FA, he is a carrier of it; about one in 60 people in Northern Ireland are thought to be carriers, while only approximately 30 people in NI have the condition.
Clare added: 'We always thought my dad was maybe a carrier. But you have to have two parents who are carriers. So whenever my genetic test came back positive, my parents got tested and it turns out my mum was a carrier too. There was no family history or anything there.'
In June, the Medicines and Healthcare Products Regulatory Agency (MHRA) approved the drug Omaveloxolone (Omav) for the treatment of FA in those aged 16 and over. This follows approval from regulators in the United States in 2022 and the European Union in 2024.
While still in its early stages, clinical trials show that it effectively slows down the progression of FA by 50%. However, the National Institute for Health and Care Excellence (NICE) has not approved the drug, and so it cannot yet be distributed here.
The Ataxia UK charity has written an open letter to Health Secretary Wes Streeting requesting interim access to the drug for FA patients in the UK.
Clare hopes to encourage local MPs in NI to help raise the issue and speed up the process, which she believes could take years. The coding system that is currently used in Irish hospitals does not have a specific code for FA, so FARA Ireland is aiming to find out the exact number of people in Ireland with FA to help with drug approval.
'The more FAers we can prove we have in Ireland, the greater the ethical responsibility on the government to provide funding for the drug for FA,' the charity stated.
'People with FA should have the same human rights as those without FA.'
Try Our AI Features
Explore what Daily8 AI can do for you:
Comments
No comments yet...
Related Articles
Daily Mirror
2 days ago
- Daily Mirror
'I saw rainbows and forgot I was a mum - now I won't see son grow up'
Clare Smerdon, 37, was diagnosed son after her son Teddy's first birthday A woman has revealed how her brain tumour caused her to "forget" she was a mum, after experiencing flashing lights and rainbow-like patterns in her vision led to her diagnosis. Clare Smerdon, 37, was diagnosed with a grade 4 astrocytoma - just weeks after her son Teddy turned 13 months old. Doctors informed her that the aggressive tumour was life-limiting and Clare was terrified she would never get to see Teddy grow up. While awaiting surgery to remove the tumour, she confessed she was "acting completely out of character" and "forgot I was a mum". However, two years later, she has beaten the odds and proudly watched her four year old son don his uniform and enter the gates of Barton Hill Academy for his first day of school. Clare, from Torquay, Devon, said: "When I received my diagnosis, I didn't think I'd be alive today to see Teddy start school. This is such a huge milestone for us. I no longer feel like I am dying and feel incredibly lucky, but I know others may not get the same chance." Clare's symptoms first manifested in early 2022, when she began seeing flashing lights and rainbow-like patterns across her vision. She said: "I felt as though people didn't understand what I was going through. I was desperate to find out what was causing the immense pain in my head and changes in my vision." In July 2022, an MRI scan at Derriford Hospital in Plymouth revealed a 7cm brain tumour. She said: "When I got the diagnosis, I remember thinking that I'd just had a baby and I wanted to be around to watch my son grow up for as long as I could. Then the wait for surgery was horrendous. I was losing myself and acting completely out of character. "I even forgot I was a mum. Teddy spent more time with his dad and we drifted apart. That was heartbreaking." In August 2022, Clare underwent a gruelling six-hour operation at Derriford to remove the tumour, followed by an intense six weeks of radiotherapy and chemotherapy. She said: "Two weeks after surgery I returned home and doctors confirmed I had a grade 4 astrocytoma, which is also classified as a glioblastoma. On hearing the pathology results I knew my life was over. "The treatment made me sick, and I could only stomach a meal in the evening. At the same time, I got to spend more time with Teddy and we were both getting to know each other again." A routine scan in August 2023 delivered the devastating news that she had just two to three years to live. Clare said: "The thought of not being here to watch Teddy grow is destroying. I'm not sure if another operation is something I want due to the implications that come with it. "My eyesight is already compromised and my speech has been impacted, so now I just watch and wait. There are so few treatment options for brain tumour patients and the ones we do have are invasive and often life-changing. "I've looked into clinical trials abroad, but for most working-class families, the cost is impossible. I'm angry and frustrated at how little support and research funding there is." Clare has now teamed up with Brain Tumour Research and will participate in the charity's Walk of Hope this September. She said: "I want to do everything I can to help fund the research that will lead to better treatments and, ultimately, a cure. If sharing my story and taking part in fundraising encourages even one more person to join the cause, it will be worth it. That's why I'm calling on the government to increase funding for research into brain cancer, more must be done." Letty Greenfield, community development manager at Brain Tumour Research, said: "Clare's story is a powerful reminder of both the personal impact of a brain tumour diagnosis and the urgent need for change. We are so inspired by her strength and determination. Brain Tumour Research is committed to funding sustainable research at our dedicated Centres of Excellence, but we also campaign for the government to increase funding. It's only through increased investment that we can accelerate new treatments and, ultimately, find a cure." Brain Tumour Research is campaigning for an annual national expenditure of £35million to bring brain cancer funding in line with other cancers, such as breast cancer and leukaemia. A JustGiving page has been established by Clare to raise funds for Brain Tumour Research ahead of the Walk of Hope in September.
Wales Online
2 days ago
- Wales Online
Woman 'saw rainbows' and 'forgot' she was a mum before 'destroying diagnosis'
Woman 'saw rainbows' and 'forgot' she was a mum before 'destroying diagnosis' Clare Smerdon was given the news soon after her son's first birthday Clare Smerdon with Teddy (Image: Brain Tumour Research/SWNS) A woman says her brain tumour made her "forget" she was a mum - after flashing lights and rainbow-like patterns in her vision led to her diagnosis. Clare Smerdon, 37, was diagnosed with a grade 4 astrocytoma - just weeks after her son Teddy turned 13 months. Doctors told her the aggressive tumour was life-limiting and Clare feared she would never get to watch Teddy grow up. While waiting for surgery to remove the tumour, she said she was "acting completely out of character" and "forgot I was a mum". But two years on, she has defied the odds and proudly watched her son, now four, put on his uniform and walk through the gates of Barton Hill Academy for his first day of school. Clare from Torquay, Devon, said: 'When I received my diagnosis, I didn't think I'd be alive today to see Teddy start school. This is such a huge milestone for us. I no longer feel like I am dying and feel incredibly lucky, but I know others may not get the same chance." Clare's symptoms first appeared in early 2022, when she began experiencing flashing lights and rainbow-like patterns across her vision. She said: 'I felt as though people didn't understand what I was going through. I was desperate to find out what was causing the immense pain in my head and changes in my vision." Article continues below Clare had an MRI scan at Derriford Hospital in Plymouth, which revealed a 7cm brain tumour, in July 2022. She said: "When I got the diagnosis, I remember thinking that I'd just had a baby and I wanted to be around to watch my son grow up for as long as I could. Then the wait for surgery was horrendous. I was losing myself and acting completely out of character. "I even forgot I was a mum. Teddy spent more time with his dad and we drifted apart. That was heartbreaking.' Clare Smerdon with baby Teddy (Image: Brain Tumour Research/SWNS) In August 2022, Clare underwent a six-hour operation to remove the tumour at Derriford, followed by six weeks of radiotherapy and chemotherapy. She said: 'Two weeks after surgery I returned home and doctors confirmed I had a grade 4 astrocytoma, which is also classified as a glioblastoma. On hearing the pathology results I knew my life was over. "The treatment made me sick, and I could only stomach a meal in the evening. At the same time, I got to spend more time with Teddy and we were both getting to know each other again.' A routine scan in August 2023 revealed she had just two to three years to live. Clare said: 'The thought of not being here to watch Teddy grow is destroying. I'm not sure if another operation is something I want due to the implications that come with it. Clare Smerdon (Image: Brain Tumour Research/SWNS) "My eyesight is already compromised and my speech has been impacted, so now I just watch and wait. There are so few treatment options for brain tumour patients and the ones we do have are invasive and often life-changing. "I've looked into clinical trials abroad, but for most working-class families, the cost is impossible. I'm angry and frustrated at how little support and research funding there is.' Clare is now working with Brain Tumour Research and will take part in the charity's Walk of Hope in September. She said: 'I want to do everything I can to help fund the research that will lead to better treatments and, ultimately, a cure. If sharing my story and taking part in fundraising encourages even one more person to join the cause, it will be worth it. That's why I'm calling on the government to increase funding for research into brain cancer, more must be done.' Clare Smerdon taking part in Walk of Hope (Image: Brain Tumour Research/SWNS) Article continues below Letty Greenfield, community development manager at Brain Tumour Research, said: 'Clare's story is a powerful reminder of both the personal impact of a brain tumour diagnosis and the urgent need for change. We are so inspired by her strength and determination. Brain Tumour Research is committed to funding sustainable research at our dedicated Centres of Excellence, but we also campaign for the government to increase funding. It's only through increased investment that we can accelerate new treatments and, ultimately, find a cure.' Brain Tumour Research is calling for a national annual spend of £35million to bring brain cancer funding in line with other cancers, such as breast cancer and leukaemia. A JustGiving page has been set up by Clare to help raise money for Brain Tumour Research ahead of the Walk of Hope in September.
Belfast Telegraph
4 days ago
- Belfast Telegraph
‘I am hopeful': Belfast woman with rare disease raises £7k for research and campaigns for access to new drug
Clare Sheeran, from the south of the city, was diagnosed with Friedreich's ataxia (FA) two years ago, at the age of 44. Only around 200 people across the island of Ireland are known to have the often life-limiting condition, which worsens over time, affecting the sufferer's mobility and speech. Walking has become difficult for Clare due to FA, but earlier this year she completed 168km on a static exercise bike — the distance between Belfast and Dublin — and raised over £7,000 for FARA Ireland in the process. 'There's no cure or anything for Friedrich's,' Clare explained. 'So all the money raised for the charity FARA Ireland goes towards research. I wanted to do something to raise awareness, but also raise funds. 'I set my target as £500 and I ended up raising over £7,000. I was delighted.' Clare had been experiencing some symptoms with her balance and speech for a couple of years before her official diagnosis. She was also familiar with what to expect, as four of her father's siblings also have FA. Friedreich's ataxia is an inherited neurodegenerative disease that damages the nervous system, particularly the spinal cord, peripheral nerves and cerebellum. It's caused by a genetic defect and is passed down from both parents, meaning it's an autosomal recessive disorder. 'I am hopeful... I know there is so much research being done into Friedreich's ataxia' 'Although most people with FA get diagnosed at a young age, my dad's siblings were older too, so that made me think that it could be a possibility, but I was still surprised when it was formally diagnosed through genetic testing,' Clare explained. 'Late-onset FA is a strange mix of feeling sad about the diagnosis and worrying about the future, and feeling happy that I had such a great life with no limitations until now. 'I'm lucky I'm still kind of working full time and I'm still able to drive at the minute, but walking, especially on uneven ground, has become quite hard. I cannot use stairs without a banister and I can't walk downhill. 'I would have really taken certain things for granted up until a couple of years ago — going to a concert or just going out for dinner or whatever. So everything is a wee bit more pre-planned in that sense.' Despite the adaptations she has had to make to her life, Clare wants to emphasise her optimism and hopeful attitude — and she wants to help other people with FA feel the same. 'I am very positive. I know there is so much research being done into Friedreich's ataxia and other neurological conditions, so I am very hopeful that the lives of people with FA and other ataxias will be changed for the better.' While Clare's father doesn't have FA, he is a carrier of it; about one in 60 people in Northern Ireland are thought to be carriers, while only approximately 30 people in NI have the condition. Clare added: 'We always thought my dad was maybe a carrier. But you have to have two parents who are carriers. So whenever my genetic test came back positive, my parents got tested and it turns out my mum was a carrier too. There was no family history or anything there.' In June, the Medicines and Healthcare Products Regulatory Agency (MHRA) approved the drug Omaveloxolone (Omav) for the treatment of FA in those aged 16 and over. This follows approval from regulators in the United States in 2022 and the European Union in 2024. While still in its early stages, clinical trials show that it effectively slows down the progression of FA by 50%. However, the National Institute for Health and Care Excellence (NICE) has not approved the drug, and so it cannot yet be distributed here. The Ataxia UK charity has written an open letter to Health Secretary Wes Streeting requesting interim access to the drug for FA patients in the UK. Clare hopes to encourage local MPs in NI to help raise the issue and speed up the process, which she believes could take years. The coding system that is currently used in Irish hospitals does not have a specific code for FA, so FARA Ireland is aiming to find out the exact number of people in Ireland with FA to help with drug approval. 'The more FAers we can prove we have in Ireland, the greater the ethical responsibility on the government to provide funding for the drug for FA,' the charity stated. 'People with FA should have the same human rights as those without FA.'
