Latest news with #LouGehrig
Daily Mail
2 days ago
- Health
- Daily Mail
I let my mother die after she was diagnosed with rare disease... it was shockingly easy
On the morning of Barbara Goodfriend's death, friends and family gathered at her house, laughing at old stories and sharing tears over her decision to end her own life. The New Jersey native had spent her life working in fashion and raising her daughter, but in April, the widow, 83 at the time, was diagnosed with Amyotrophic Lateral Sclerosis (ALS) - a rare neurodegenerative disease that causes progressive paralysis of the muscles. Also known as Lou Gehrig's disease, the condition, which affects about 30,000 Americans, affects the nerve cells in the brain and spinal cord - causing loss of motor function and eventually respiratory failure. There is no cure and those who are diagnosed with it die within three to five years. However, Goodfriend's case was severe and she was given just months to live. Doctors told her she likely wouldn't live through autumn. Rather than spend the last remaining months of her life suffering, the grandmother-of-two decided to end her life using Medical Aid In Dying, also known as MAID, nine months after her diagnosis. Goodfriend said: 'What am I going to give this up for? To be in a wheelchair? To have a feeding tube? I wish I had more time to live, but I don't want more time as a patient.' 'I hope that something will get done, something will be accomplished, so that others can have the privilege that I'm having,' she told CBS News. MAID is an end-of-life option provided to terminally ill Americans in California, Colorado, Hawaii, Maine, Montana, New Jersey, New Mexico, Oregon, Vermont, Washington and the District of Columbia. It was legalized in New Jersey in 2019. While the CDC is yet to announce how many people died of MAID in 2024 across the states where it is legal, officials reported 1,216 deaths in 2021. Since the law took effect in 2019, a total of 287 people have used MAID to die in New Jersey. The option for MAID is only given to those who have less than six months to live, have decision-making capacity to request the option, give informed consent and are residents of the state where it is legal. An attending and a consulting physician then determine if the patient is medically eligible for MAID. If found eligible, the patient needs to submit three requests to opt for MAID to their attending physician - two oral requests and one written request for final approval. The process involves a combination of drugs, including digoxin, diazepam, morphine, amitriptyline and phenobarbital into the body. They slow breathing and heartrate down eventually to the point of stopping. According to the law, patients must self-administer these drugs. They normally do this by mixing the powdered medications in two ounces of juice and drinking them - which is what Goodfriend opted to do. It usually takes between five to 20 minutes for all the medications to stop the heart from beating, however, many people die within the first few minutes, depending on the severity of their illness. After she made her decision to opt for MAID in November 2024, she noted that none of her family members, particularly her daughter, Carol Getz Abolafia, tried to stop her. Abolafia later told CBS News that even though the decision to let her mother go was the hardest thing she had done, she ultimately respected Goodfriend's wishes to opt for MAID and die in comfort. She said: 'I think the hardest part in all of this, for me as her only child, is to support something so difficult and so contrary to what you want to do. 'The ultimate love that you can give somebody is to respect their wish, to live the way they wanna live, and to die the way they want to die.' As the day of her death came closer, Goodfriend spent a week with her family saying goodbye. 'It's been a week of family, friends. We've done a lot of crying, all of us, but we've laughed. We've enjoyed being together,' she said. Dr Robin Plumer, who has attended nearly 200 MAID deaths in New Jersey, assured Goodfriend she would go to sleep after drinking the drugs and it would be a 'peaceful, dignified death.' 'So, here we are today, and what a strange day this is - that somebody gets to pick the day that they're going to die,' Dr Plumer added. As her teary-eyed family surrounded her in her bedroom, Goodfriend died on November 15, 2024. According to a Gallup poll, about two-thirds of Americans support MAID as an end-of-life choice. But groups such as United Spinal Association fight against the legalization of MAID or what they call 'assisted suicide.' But Goodfriend said before her death: 'If it's not a good idea for you, don't consider it, but there has to be a way for those who want it.
Yahoo
6 days ago
- Health
- Yahoo
This experimental drug could help young people with a rare and aggressive form of ALS
An experimental drug could help young people with a rare form of ALS, researchers at New York's Columbia University Irving Medical Center announced on Thursday. Known as 'ulefnersen,' the therapy showed promise in treating patients with FUS-ALS, which is caused by a genetic mutation in a gene called FUS. The gene provides instructions for making a protein and plays a crucial role in cellular processes. While the mutations are only responsible for between one and two percent of ALS cases, they cause some of the most aggressive forms of ALS that begin in adolescents and young adults. Fewer than 30,000 people in the U.S. are living with ALS, which is also known as amyotrophic lateral sclerosis or Lou Gehrig's disease, while 5,000 people are diagnosed each year. The nervous system disease affects nerve cells in the brain and spinal cord, leading to a loss of muscle control that gets progressively worse. The exact cause of the disease remains unknown, but a small number of cases are genetic. There is no cure and it is, eventually, fatal. 'When testing new drugs for ALS, we do not expect to see clinical improvement,' neurologist and scientist Neil Shneider said in a statement. 'What we've seen in one patient is really unprecedented functional recovery. It's surprising and deeply motivating for us, the ALS research community, but also the community of ALS patients.' Shneider, who developed the drug in collaboration with the biotech company Ionis Pharmaceuticals, published his findings in the peer-reviewed journal The Lancet. Starting as an effort to help a single patient, the case series was small, including just 12 patients who were treated with the drug. Two of the patients showed a remarkable response to the drug. A young woman who had received injections of ulefnersen since late 2020 regained the ability to walk unaided and to breathe without the use of a ventilator, both previously lost to ALS. The medical center said she has lived longer with this disease than any other known patient with this juvenile-onset form of FUS ALS. A man in his mid-thirties was asymptomatic when he began treatment, but tests of electrical activity in his muscles indicated that symptoms would likely emerge imminently. However, after three years of treatment, he has yet to develop FUS-ALS symptoms and the abnormal electrical activity in his muscles has improved. Lastly, the researchers found patients experienced an up to 83 percent decrease in a protein called neurofilament light — a biomarker of nerve damage — following six months on the drug. 'These responses show that if we intervene early enough and go after the right target at the right time in the course of disease, it's possible to not only slow disease progression, but actually reverse some of the functional losses,' said Shneider. 'It's also a wonderful example of precision medicine and therapeutic development based on science and an understanding of the biology of disease.' While most of the other symptomatic patients did not survive their disease, Shneider said that 'several apparently benefited from the treatment. The progression of their disease slowed, and they lived a longer life as a consequence.' There were no serious adverse events related to the drug and a global clinical trial is now in progress. At least 25 patients have been treated with the drug around the world, including the dozen in Shneider's case studies. It was first tested six years ago in an Iowa patient named Jaci Hermstad. The drug was originally named for her. 'Now we are eagerly awaiting those results, which we hope will lead to the approval of ulefnersen,' Shneider said.
Hans India
6 days ago
- Health
- Hans India
Experimental drug shows promise of treatment for young patients with rare form of ALS
Treatment with an experimental drug has shown significant improvements in young patients with a rare form of Amyotrophic Lateral Sclerosis (ALS) -- a progressive neurodegenerative disorder, said a team of US researchers on Friday. ALS, also known as Lou Gehrig's disease, is a rare disorder that affects nerve cells in the brain and spinal cord, leading to the loss of motor neurons causing difficulty with movement, balance, coordination, and potentially even breathing. While experimental therapies have so far slowed down the disease or halted its progression, the new treatment using ulefnersen (previously known as jacifusen) -- showed that functional losses in young patients can be reversed. "When testing new drugs for ALS, we do not expect to see clinical improvement," said neurologist and scientist Neil Shneider at Columbia University. But, "what we've seen in one patient is really unprecedented functional recovery. It's surprising and deeply motivating for us, the ALS research community, but also the community of ALS patients," he added. Data from 12 patients -- all treated with the novel therapy for a rare form of ALS caused by a genetic mutation in a gene called FUS -- were presented in a case series published by Shneider online in The Lancet. Though these gene mutations are responsible for only 1-2 per cent of ALS cases, they cause some of the most aggressive forms of ALS that begin in adolescents and young adults. In patients with these mutations, toxic FUS proteins accumulate in the motor neurons that control the patient's muscles, eventually killing the neurons. Two of the patients in the published case series showed a remarkable response to the experimental therapy, ulefnersen developed by Shneider in collaboration with California-based Ionis Pharmaceuticals. One young woman, who has received injections of the therapy since late 2020, recovered the ability to walk unaided and to breathe without the use of a ventilator, both previously lost to ALS. She has lived longer with this disease than any other known patient with this juvenile-onset form of FUS ALS. The second patient, a man in his mid-30s, was asymptomatic when he began treatment, but tests of electrical activity in his muscles indicated that symptoms would likely emerge soon. In three years of continuous treatment with the experimental drug, the man has yet to develop any symptoms of FUS-ALS and the abnormal electrical activity in his muscles has improved. Overall, after six months of treatment, patients in the series experienced up to an 83 per cent decrease in a protein called neurofilament light, a biomarker of nerve damage. "These responses show that if we intervene early enough and go after the right target at the right time in the course of the disease, it's possible to not only slow disease progression but actually reverse some of the functional losses," Shneider said. Though most of the other symptomatic patients in the series did not survive their aggressive disease, Shneider said "Several apparently benefited from the treatment. The progression of their disease slowed, and they lived a longer life as a consequence." The case series also showed that the drug is safe and well tolerated, with no serious adverse events related to the drug. Following the results from the first of these patients, a global clinical trial of the drug is now in progress. "Now we are eagerly awaiting those results, which we hope will lead to the approval of ulefnersen," Shneider said.
Yahoo
6 days ago
- Health
- Yahoo
Health Alliance Medicare Advantage plans set to end, impact over 33K people
CENTRAL ILLINOIS (WCIA) — Three months ago, Carle Health announced that its healthcare plans through Health Alliance will end by the end of the year. Now, the health system says Health Alliance Medicare Advantage plans will end by Dec. 31, 2025 as well. Carle Health said coverage for current Medicare Advantage members will remain unchanged through the end of the year. Insurance expert breaks down implications of Health Alliance's discontinued services 'This decision reflects the challenges facing provider-owned health plans in the current insurance and economic environment,' Carle Health said in a news release. Medicare Advantage replaces Original Medicare. It's sold and managed by private insurance companies. People who qualify for Medicare include people 65 or older, or those with a disability, End-Stage Renal Disease (permanent kidney failure requiring dialysis or a transplant), or ALS (also called Lou Gehrig's disease), according to the Department of Health and Human Services. Carle Health previously said Medicare Advantage would continue. But, after they 'concluded their comprehensive strategic and financial analysis,' that decision changed. The decision impacts 33,332 Medicare Advantage members, according to Carle Health. 'Our decision to exit the insurance market comes at a time when market dynamics and plan designs have made it increasingly difficult for provider-owned health plans to remain sustainable,' James C. Leonard, MD, Carle Health president and chief executive officer, said. 'We're proud of the service our health plans have delivered for decades, and especially proud to have connected people to the care they've trusted through every stage of life. That legacy continues as Carle Health focuses our efforts on delivering exceptional care and positioning Carle Health for long-term strength and impact.' Carle layoffs set to begin in July on 'rolling basis' in Champaign WCIA has reached out to Carle Health to find out what services or help Carle Health plans to provide Medicare Advantage users when it's time for them to choose a new coverage option. The health system said they maintain relationships with other Medicare Advantage plans. And, when it's time to explore new coverage options, Carle said they will provide resources to help. 'For Carle Health patients wishing to stay connected to their care teams, we will be providing helpful enrollment information during the Annual Election Period at We are focused on a thoughtful and supportive transition for our members,' Carle Health said. Copyright 2025 Nexstar Media, Inc. All rights reserved. This material may not be published, broadcast, rewritten, or redistributed.
Yahoo
21-05-2025
- Health
- Yahoo
Day of Action on May 22 Highlights Need for Visibility of ALS
May is Awareness Month for Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig's disease WASHINGTON, May 20, 2025 /PRNewswire/ -- In honor of ALS Awareness Month, I AM ALS is rallying the nation on Thursday, May 22 for a Day of Action to shine a light on the devastating realities of Amyotrophic Lateral Sclerosis (ALS), amplify the voices of those affected, and galvanize Americans around our urgency for change. The theme "ALS is here, but so are we" invites advocates, families, and allies to share their powerful stories and take personal actions to build awareness, connection, and hope. Ways to Participate on May 22: Submit an Op-Ed: Use I AM ALS's easy-to-use op-ed template and guidance to submit your story to your local/regional media outlets. Amplify on Social Media: Change your profile photo to the campaign image, and post your story, photos, or videos using the hashtags #ALSisHere and #SoAmI. Tag @iamalsorg to help spread the message even further. Tell Your Story: Share how ALS impacts your life—focus on one real, raw, and resonant aspect. Encourage friends and family to do the same. Educate Your Community: Spread key facts using these graphics about ALS to raise awareness. Support the Cause: Encourage donations to and promote I AM ALS' Congressional funding priorities. Be Bold: Whether it's dyeing your hair blue or hosting a local film screening (learn more about how to host a screening of "For Love & Life" here), creative and courageous acts are welcome and celebrated. "On May 22, we're asking people everywhere to stand with us, speak out, and show up," said Andrea Goodman, CEO of I AM ALS. "ALS is here, but so are we. We are storytellers, visionaries, advocates, and dreamers—and we're not going anywhere. This Day of Action is about community, truth-telling, and visibility." ALS, otherwise known as Lou Gehrig's disease, is a progressive and 100% fatal neurodegenerative disease that affects nerve cells (neurons) in the brain and spinal cord, leading to muscle weakness, paralysis, and eventually death. Approximately 6,000 people in the U.S. are diagnosed with ALS every year. It is projected that the number of ALS cases worldwide could increase by almost 70% by 2040 (source). About I AM ALSI AM ALS is a nonprofit organization leading what STAT News called the most successful patient advocacy campaign this century. We built a community movement to harness collective power and find treatments and a cure for ALS faster, while also creating lasting, systemic change. Our focus is on three areas: Advocating for federal policy change to drive research, support, and treatments for ALS. Improving quality of life by providing volunteer and support opportunities to advocates and people living with ALS. Mobilizing and empowering advocates to raise awareness about ALS and other neurodegenerative diseases, and increase visibility of the ALS experience. Learn more at View original content to download multimedia: SOURCE I AM ALS Error in retrieving data Sign in to access your portfolio Error in retrieving data Error in retrieving data Error in retrieving data Error in retrieving data
