Latest news with #Friedreich'sAtaxia
New Indian Express
7 days ago
- Health
- New Indian Express
Madras HC allows 28-week abortion for disabled rape survivor; says case ‘can brook no delay'
CHENNAI: A pregnant woman with 80% disability, who was raped by her neighbour, terminated her 28-week foetus on Tuesday after the Madras High Court allowed her to undergo the procedure. Under the Medical Termination of Pregnancy Rules, termination of foetus is allowed only up to 24 weeks. The woman is suffering from Friedreich's Ataxia, a rare neurological condition that has led to paralysis of her limbs and 80% permanent physical impairment. The woman's mother did not notice her pregnancy in the early stages because of her condition. After noticing bodily changes, the woman took her daughter to the Government Medical Hospital in Chengalpattu where doctors confirmed that she was in her 28th week of pregnancy. Though the police registered a case against the accused for rape and criminal intimidation, the doctors at the hospital refused to terminate the pregnancy citing rules. The mother later moved the Madras High Court, seeking direction to the hospital to terminate her daughter's pregnancy. The woman cited pregnancy due to rape and her daughter's medical condition for seeking the court's intervention. Justice D Bharatha Chakravarthy, in his order, said that the woman, being a rape survivor, is entitled for medical termination of pregnancy. He further said that the outer limit of 24 weeks need not be held as a barrier in this case since the woman's mother noticed it only after 24 weeks because of her medical condition. The only consideration that has to be made is the matter of risk associated with the continuation or termination of the pregnancy by a Medical Board that can be constituted by the Dean of the Government Medical College Hospital, Chengalpattu, the court had ruled recently.
NZ Herald
24-05-2025
- Health
- NZ Herald
Billionaire's family backs Friedreich's Ataxia research fundraiser for friend Flynn Mitchell
As he tried to get into the house, his wheelchair kept sliding backwards. With no one expected home for another four hours, Mitchell was left stranded in the cold. 'There was no way I could get up there. It would've been dangerous [but] if I'd stayed outside I would have frozen to death,' Mitchell said. 'I finally managed to open the door but couldn't get the wheelchair in, so I crawled into the house and pulled the wheelchair behind me. When I got in, I was freezing. I broke down and I bawled my eyes out. I thought, 'I can't do this anymore.'' Fundraising for a cure Mitchell, who graduated last week with a Bachelor of Entrepreneurship from Otago University, has Friedreich's Ataxia (FA)- a progressive, incurable neurodegenerative muscular disorder. There is currently no cure, and billionaire Graeme Hart's granddaughter Jemima Hawkesby, 21, is one of a group of Mitchell's closest friends raising awareness and funds for research into the disorder. They have a team, 'For Flynn,' in the Lend Us Some Muscl e campaign - to raise funds for future research and clinical trials. 'We are a group of mates in our early 20's from all over New Zealand, taking on the Lend Us Some Muscle Global Challenge 2025 for the second year running' says the blurb introducing their fundraiser. 'Flynn's one of the strongest, most determined people we know, and this is our way of backing him, and showing him how proud we are of his strength.' Hawkesby told the Herald, 'We want to help Flynn walk again. Each team will complete physical challenges like walking, running, golfing, swimming, and yoga- sadly all activities that Flynn and others with FA can no longer do.' So far, the friends have raised more than $16,500 of their $30,000 target. 'My friends keep me grounded.' Hawkesby and Mitchell boarded at Selwyn College, Otago in 2022 and instantly clicked, Mitchell confiding in her about why he chose to be in a wheelchair. Says Hawkesby: 'He got tired of people harassing him and taking the piss out of the way he walked. He knew he would end up in a wheelchair and thought, 'why wait'? It gets to me when my friends say, 'we're going on a hike' and obviously I can't go. Flynn Mitchell 'He was like a fourth brother to me. Flynny is one of us - we forget he's in a wheelchair. He shows up for everyone no matter what he's going through' Hawkesby said. 'I've had to take him to hospital a few times because he's been drunk and fallen out of his chair and banged his head. He doesn't like asking for help, but he always takes time to check in on me every day.' Mitchell says being around close, non-judgemental friends keeps him grounded. 'When I started walking funny, before I got a wheelchair, quite a few friends dropped off.' But his genuine friends stood by him - 'friends like Jemima, Jules and Xavier, my childhood friend from King's College.' I'd love to be a father one day. I'd like to be able to talk properly and be able to dance on two feet and walk without having to rely on my friends to lift me upstairs. Flynn Mitchell Hawkesby - public relations leader for Antipodes - now lives in Wellington with her partner Jesse Tashkoff, an all-rounder for the Wellington Firebirds. The pair caught up with Mitchell in Dunedin last week, when Hawkesby graduated with a Bachelor of Commerce and Mitchell with a Bachelor of Entrepreneurship. Hawkesby's grandmother, 'Mama' Robyn Hart - wife of Graeme Hart - has donated to the campaign and told the Herald Mitchell is much-loved by his friends. 'I admire him and his 'can do' attitude. One day he came to see me at home and announced there was going to be a drug that could reverse many of his FA symptoms. The look of hope on his face and the tears in his eyes as he told us was so special.' Hart told the Herald her fondest memory of Mitchell was at her granddaughter's 19th birthday. 'Drinking shots with Flynn in Dunedin - he out-drank me! That's not an easy thing to do' Hart said. One of Mitchell's university friends, Jules Aitken, 21, accompanied him to Melbourne last year for annual tests, treatments and monitoring. 'You never truly understand how much FA affects Flynn's daily life until you see it. I got a real insight being with him 24/7. Flynn will never talk about it or complain but you see how much more difficult it is for him.' 'For the Lend Us Some Muscle campaign we're trying to cover the length of NZ which is 1600 kilometers from the top to the bottom which is 8.6 kms a day. What motivates me is if my legs and feet are sore and I'm in pain and I don't feel like a run, I think how privileged I am to be able to exercise and raise money for my mate who would cherish the opportunity to go for a run.' The rare condition Friedreich's Ataxia is a life-shortening, progressive neuro-muscular disorder, and there isn't a cure yet. Mitchell's heart is fragile; he has lost co-ordination and the ability to walk, and talk clearly. It's the simple things he grieves the most. 'I used to be fully independent. I sailed, I could walk to the beach, play football in the park. It gets to me when my friends say, 'we're going on a hike' and obviously I can't go.' In New Zealand, as many as 1 in 90 people may be carriers of the gene. The diagnosis Mitchell grew up in St Heliers, Auckland, with his parents, Scott and Gesa, and his two younger brothers, Peer,19 and Yonas, 18. Gesa says when she first learned of her son's diagnosis, she couldn't breathe. 'It is hereditary, but we don't know anyone in our families who has it,' she told the Herald. 'It was quite a process for Flynn to be diagnosed. When he was 12, I noticed he was skinnier and shorter than the other boys, but I wasn't worried. Then he started losing his balance, and after he did the Ironman in 2013, he was struggling to breathe big-time. That was the first sign of hypertrophic cardiomyopathy which is part of FA.' Gesa describes her son as clever, kind curious, with a big smile on his face - a lover of marine life. She said it was devastating to see him unable to do the things he loves most: run, cycle, sail, ski and hike. 'You have to think outside the box. Last year, we took Flynn to the Sahara Desert,he didn't want to ride on a camel because it wasn't sustainable or 'the right thing for the camel,' so we put his wheelchair on the back of quad bike because Flynn didn't think it was ethical putting a wheelchair on top of a camel.' Mitchell hopes to finish his master's next February and start a business protecting the natural world and being amongst animals like his hero, Sir David Attenborough. He wants to fall in love and have his own family. 'I'd love to be a father one day. I'd like to be able to talk properly and be able to dance on two feet and walk without having to rely on my friends to lift me upstairs. 'I would love not to rely on anyone.' Carolyne Meng-Yee is an Auckland-based investigative journalist who won Best Documentary at the Voyager Media Awards in 2022. She worked for the Herald on Sunday from 2007-2011 and rejoined the Herald in 2016 after working as an award-winning current affairs producer at TVNZ's 60 Minutes, 20/20 and Sunday.
Yahoo
25-02-2025
- Health
- Yahoo
Advocates, patients spread awareness during National Rare Disease Week
HARTFORD, Conn. (WTNH) — Advocates and patients with rare diseases spent Tuesday morning talking with lawmakers and educating the public as part of National Rare Disease Week. One of the best speakers at the Capitol Complex was also the youngest. Anay Vaidya is 9 years old and has hemophilia, a blood disorder. 'Where, like, your body has this mutation, so the blood can't clot properly unless you have the medications,' Vaidya explained. There are more than 7,000 rare diseases worldwide. Advocates and patients came to Hartford to call for more help from the state government. Vaidya may be just nine, but he's seen major progress in treatment during his lifetime. 'Before, I had to take two shots a day, then once a day,' Vaidya said. 'Then I had to do it every two days, but now, because of the advancements, I have to do it once a week.' Progress is also being made at the state level in addressing rare diseases. The state created an advisory council on rare diseases. That formed in the past couple of years. During this legislative session, lawmakers look at ways to fund the council better. One would allow the council to take donations and not rely on state funding. Another would allow rare disease patients to enroll in the HUSKY health plan regardless of income. Others deal with treatment, and the council is all about raising awareness. 'As well as information to the community so people can get diagnosed quicker and not have to go through a long journey to figure out what their real issues are,' said Dominic Cotton, a rare disease advocate on the advisory council. Mary Caruso's children were diagnosed when they were young. Alex and Sam have Friedreich's Ataxia, which causes progressive damage to the nervous system. 'We were able to learn to adapt to the progression and still live our lives and do good things,' said Caruso, a North Branford resident. One of those is to remind everyone that patients are people, too. As Vaidya says, just people with a disease. 'Just because someone has one, they don't have to be separated, and we should just all be aware of it,' Vaidya said. Which is why it's so important for him to keep telling his story. Copyright 2025 Nexstar Media, Inc. All rights reserved. This material may not be published, broadcast, rewritten, or redistributed.
Associated Press
05-02-2025
- Health
- Associated Press
Rare Disease Patients Face Barriers in Access and Care
People with Friedreich's ataxia face debilitating symptoms, too few medical specialists and too many health insurance barriers, physicians explain in new policy paper WASHINGTON, Feb. 5, 2025 /PRNewswire/ -- An FDA-approved medication can now treat Friedreich's ataxia, but health plan barriers and formulary exclusions keep many patients from receiving it. In a white paper by the Alliance for Patient Access and the Friedreich's Ataxia Research Alliance, titled " Friedreich's Ataxia: A Rare Condition Facing Common Access Challenges,' physician authors outline the disease's debilitating symptoms as well as the treatment challenges that accompany it. The rare genetic condition often begins in childhood and affects the brain, heart and neurological system. After years with no dedicated treatment option, the FDA approved omaveloxolone in 2023. Hailed as 'an exciting step forward for the FA community,' the medication remains out of reach for many patients. Some health plans have excluded the new drug from their formulary. Others cover it but only with onerous prior authorization and step therapy protocols, which delay care for patients already struggling with the disease's symptoms. These barriers compound existing challenges. Finding a specialist or clinician who can diagnose Friedreich's ataxia, given its rarity, remains difficult. Clinician knowledge gaps and transportation challenges often mean delayed diagnosis or misdiagnosis. 'Due to the progressive nature of Friedreich's ataxia, people living with the condition cannot afford delays in access to knowledgeable healthcare professionals or treatment,' says Kellyn Madden, patient engagement manager for the Friedreich's Ataxia Research Alliance. 'The FA community has partnered for many years with researchers to bring treatments forward. This white paper marks a significant step in raising awareness and advocating for policies that facilitate access to this care.' The white paper proposes several potential policy solutions, including: Limits on health plan utilization management Expanded coverage for telehealth Support for innovation and more opportunities for children to participate in clinical trials STATEMENT FROM JOSIE COOPER, EXECUTIVE DIRECTOR OF THE ALLIANCE FOR PATIENT ACCESS: 'Patients with Friedreich's ataxia deserve access to innovative treatments and patient-centered care. With health plan barriers negatively impacting these patients' physical and mental health, policy change is critical.' The Alliance for Patient Access is a network of policy-minded health care providers who advocate for patient-centered care. The Friedreich's Ataxia Research Alliance (FARA) is a national, public, 501(c)(3), nonprofit, organization dedicated to the pursuit of scientific research leading to treatments and a cure for Friedreich's ataxia.
