Latest news with #rareDisease
Associated Press
10 hours ago
- Health
- Associated Press
High School Athlete's Mysterious Illness Leads to Rare Diagnosis of idiopathic Multicentric Castleman Disease (iMCD)
iMCD is one of the main subtypes of Castleman disease BRIDGEWATER, NJ, UNITED STATES, August 12, 2025 / / -- Idiopathic multicentric Castleman disease (iMCD) is a rare, sometimes life-threatening disorder that affects all ages. Its symptoms often resemble those of malignant lymphoma, autoimmune, or infectious diseases, making it difficult to diagnose. Avion entered a high school of over 3,000 students as a star football player but was soon derailed with a mysterious illness that led to multiple hospitalizations and surgeries, and eventually a stay in one hospital for much of the school year. Despite multiple misdiagnoses and invasive treatments, his condition worsened. Only after his hematologist-oncologist consulted national experts was he accurately diagnosed with idiopathic multicentric Castleman disease (iMCD)—the hospital's first and only confirmed case to date. While bedridden, Avion kept up with schoolwork thanks to a dedicated tutor. He eventually returned to school in a wheelchair and slowly regained his strength. Now preparing for college, he's focused on mentoring young athletes facing similar challenges. The kNOw iMCD campaign aims to raise awareness and improve recognition of this rare disease to help reduce diagnostic delays and connect patients with proper care. Learn more about iMCD at or from the Castleman Disease Collaborative Network at Recordati Rare Diseases Media Relations email us here Visit us on social media: Instagram Facebook LinkedIn Legal Disclaimer: EIN Presswire provides this news content 'as is' without warranty of any kind. We do not accept any responsibility or liability for the accuracy, content, images, videos, licenses, completeness, legality, or reliability of the information contained in this article. If you have any complaints or copyright issues related to this article, kindly contact the author above.
CBS News
2 days ago
- Health
- CBS News
After daughter's devastating Batten diagnosis, Minnesota family fighting to find cure
A Victoria, Minnesota, family is channeling their heartbreak into hope. When Dan and Stephanie Born welcomed their daughter Helen into the world, they felt their family was finally complete. Helen Born was spirited from the start and has always loved pink, hugs and all things "girl." Now, that spirit is helping Helen Born — and her parents — fight an unimaginable disease. "It's been a really, really difficult year," Stephanie Born said. It was around age 2 that Dan and Steph Born started to notice some changes. Helen Born was a bit clumsy, and her speech was delayed. Last summer, the seizures started. By age 4, doctors delivered a diagnosis the Born family had never heard of: CLN2 Batten disease — a rare, degenerative and fatal neurological disorder with no cure. "We never thought our world would come crashing down with a diagnosis," Dan Born said. "You could just see it in the doctor's eyes." Batten disease affects just 200 to 300 children in the U.S. It's caused by a deficiency of the TPP1 enzyme, which breaks down waste in cells. Without it, the waste builds up and slowly kills cells, taking away motor function, sight, speech and, ultimately, life. Doctors told the Borns their daughter may not live past the age of 10. "I can't unhear that," Dan Born said. "And I can't live with that." Since her diagnosis, Helen Born has been receiving enzyme replacement therapy every two weeks at Mayo Clinic — the only child there currently undergoing the treatment. Shortly after the diagnosis, a port was surgically placed in her brain to administer the infusions, which aim to slow the disease's progression. But the treatment is not a cure. "This is the best she'll ever be until we find something else," Stephanie Born said. "It's a disease that absolutely robs kids of their childhood." The Borns refused to accept that Helen's diagnosis is the end of her story. "The first night after the diagnosis, there was just this beautiful, pink sky," Dan Born remembered. "Helen has always loved pink. I remember Steph, one of the first nights, said, 'That's a sign from God that he's going to take care of Helen.'" That moment inspired the creation of Helen's Pink Sky Foundation — a nonprofit dedicated to raising money for Batten disease research. In just a few months, they've raised $1 million. None of it goes toward Helen Born's medical care. Every dollar supports research grants, with three institutions already receiving funding. Their goal: raise another $8 to $10 million over the next three years. "We are just getting started," Stephanie Born said. "I think we're challenging things in certain ways that people haven't seen before. That we're going to get a different outcome. I will think nothing less than us finding a cure." The foundation has sparked nationwide support. Hundreds of people across the U.S. are hosting "Pink Lemonade Stands for Helen." During the Indy 500, where Helen Born's cousin and uncle are part of a race team, her story was featured — drawing 10,000 views to the foundation's website in a single minute. The momentum is vital. And in the face of this relentless disease, their fight burns brighter than ever. "We're fighting every day for Helen," Dan Born said. "And we're going to continue to fight for Helen. We can't accept anything else." Helen's Pink Sky Foundation is hosting a fundraising gala Oct. 25 at Hazeltine National in Chaska, Minnesota.
Daily Mail
6 days ago
- Health
- Daily Mail
Disgraceful behavior of health committee who cruelly banned dying girl, 10, from taking only meds that were helping her
A disgraced health committee is facing backlash after 10 members resigned to protest a little girl with a rare disease being supplied with her vital medications. The scandal unfolded in British Columbia, Canada, in recent months after Charleigh Pollock, a 10-year-old girl living with terminal Batten disease, began taking a medication named Brineura. The medication does not cure Batten disease, a rare childhood condition affecting the nervous system, but slows its progression and prevents seizures and other severe side effects. Charleigh's family and doctors said that her condition visibly improved while taking the drug, and she was able to finally enjoy her childhood by being able to play outside and go back to school. But in June, Canada 's Health Minister Josie Osborne severed her family's funding for the medication as she cited 'no clinical evidence' that Brineura actually helped. The decision sparked outrage as Charleigh's family and doctors said they could clearly see her improvement, with the public even circulating a petition that gained thousands of signatures. The public pressure led Osborne to reverse her decision in July - a move that pleased almost all, except for British Columbia's expensive drugs for rare diseases (EDRD) committee. Ten members of the committee, who are anonymous medical professionals, have now resigned in protest to Osborne restarting Charleigh's medication as they claim the minister 'politically interfered' with her care, reports the National Post. The young girl's case has made national headlines in Canada amid scrutiny on its healthcare industry at large, also including controversies surrounding the nation's rapid expansion of euthanasia. Many criticized Osborne even after she U-turned on Charleigh's care, claiming she acted only out of political pressure. When her medication funding was stopped, Charleigh's family and friends launched a GoFundMe as it was the only way to help her receive the only drug that helped. The fundraiser, which topped $72,000 CAD at the time of writing, said that she desperately needs Brineura 'to keep her alive and have quality of life.' Batten disease is a rare condition that tragically usually only affects children, causing a myriad of health problems in the nervous system including seizures, neurological disorders, loss of motor skills and weight loss. The terminal disease often means children diagnosed with the condition only live into their early 20s, and Charleigh's fundraiser notes that the money will eventually go toward 'end of life care in the future.' Charleigh is the only child in British Columbia with Batten disease, and the fundraiser says that while Brineura does not cure her, it 'keeps her seizure-free and full of joy.' 'It is giving Charleigh more time, more stability, quality of life and more memories with the people who love her,' her family wrote. The Daily Mail has contacted the EDRD board for comment. Amid outrage over the EDRD board's handling of her care, British Columbia Premier David Eby said that he is now considering overhauling the drug panel entirely. Eby told CTV News that he was dissatisfied with the board's callous approach to the situation, and said he did not like that the committee members are anonymous. 'We need to make sure that it works in a way that it's the experts that are making those decisions, and that is taking place in a way that's transparent and understandable to the public,' he said. 'It did not work that way in the Charleigh case. We had two groups of experts fighting it out. One very publicly. One a secret committee within the ministry of health, speaking only through politicians. That doesn't work.' 'I am supportive of the health minister's decision to not let this child get caught between a battle between two experts, and I hope that the experts who are on the committee and who have left the committee are willing to work with us to identify a structure that's going to work for them.'
Yahoo
05-08-2025
- Health
- Yahoo
Dystrophic Epidermolysis Bullosa Market Analysis and Forecast, 2025-2035: Topical Therapies Dominate DEB Market as Vyjuvek Secures Leading Position
The global dystrophic epidermolysis bullosa (DEB) market is expanding due to increased awareness, advanced diagnostics, and innovative treatments like Vyjuvek, a topical gene therapy by Krystal Biotech. DEB, a rare genetic condition causing fragile skin, is being diagnosed earlier thanks to improved genetic screening and non-invasive imaging. However, the high costs and limited options for advanced disease stages remain challenges. North America leads the market with superior healthcare infrastructure and ongoing clinical research. The demand for DEB treatments is rising, driven by gene and cell-based solutions. Dublin, July 24, 2025 (GLOBE NEWSWIRE) -- The "Dystrophic Epidermolysis Bullosa Market - A Global and Regional Analysis: Focus on Therapy Type and Region - Analysis and Forecast, 2025-2035" report has been added to global dystrophic epidermolysis bullosa market is driven by rising awareness, advances in early diagnosis, and improved treatment options. DEB, a rare genetic disorder characterized by fragile skin that blisters easily, significantly impairs quality of life and can lead to severe complications such as chronic wounds, scarring, and increased risk of infections. Advances in genetic screening, biomarkers, and non-invasive imaging techniques are enabling earlier and more accurate diagnoses, which is driving the demand for more targeted therapeutic interventions. Additionally, innovations in gene therapy, such as Vyjuvek, and cell-based treatments are offering new hope for patients, improving skin healing and reducing the burden of the challenges including the high costs of novel therapies, limited treatment options for advanced stages of the disease, and variability in patient responses complicate treatment regimens for dystrophic epidermolysis bullosa. Additionally, the rarity of the condition and disparities in healthcare infrastructure limit access to timely and standardized care, especially in low- and middle-income countries. Despite these obstacles, increasing government and private sector investments in rare disease research, along with rising awareness campaigns, are driving market growth by improving early diagnosis, enhancing patient access to treatments for Dystrophic Epidermolysis Bullosa (DEB), such as gene therapies such as Vyjuvek, significantly improve skin healing and reduce blistering, enhancing patients' quality of life. Early diagnosis through advanced genetic screening and non-invasive imaging enables personalized care, while digital health tools and telemedicine improve monitoring and treatment adherence. These advancements are transforming DEB into a more manageable condition, improving patient outcomes and reducing healthcare topical therapies hold the highest market share. This can be attributed to the approval and adoption of Vyjuvek (eremagene geperpavec), a topical gene therapy developed by Krystal Biotech. This approval has positioned Vyjuvek as a leading treatment option, contributing to the dominance of topical therapies in the DEB America holds the highest market share in the dystrophic epidermolysis bullosa market, driven by the region's advanced healthcare infrastructure, robust reimbursement policies, and the presence of leading pharmaceutical companies actively developing and commercializing DEB therapies. Additionally, North America benefits from a high prevalence of DEB, extensive clinical research activities, and a well-established patient support network, all contributing to its leading position in the Drivers for the Global Dystrophic Epidermolysis Bullosa Market: Growing awareness is leading to earlier diagnosis and more identified cases of DEB. Gene therapies and cell-based treatments such as Vyjuvek are addressing DEB's genetic roots, creating demand for innovative solutions. Enhanced diagnostic tools enable quicker and more accurate identification of DEB. Early detection facilitates timely intervention, driving treatment demand. Global initiatives supporting rare diseases, including DEB, are increasing treatment access. Limitations for the Global Dystrophic Epidermolysis Bullosa Market: Advanced therapies, such as gene and cell-based treatments, come with high price tags, limiting their accessibility. Despite progress, gene and cell-based therapies for DEB are still in the early stages of development and are not widely available. The approval process for novel therapies in DEB can be slow and complex, hindering the timely availability of new treatments. Key Market Players and Competition SynopsisA detailed competitive landscape analysis helps organizations benchmark their market standing against key players. By understanding the strengths and weaknesses of competitors, companies can position themselves more effectively in the global dystrophic epidermolysis bullosa market. Leading players in the global dystrophic epidermolysis bullosa market include: Krystal Biotech Castle Creek Biosciences Abeona Therapeutics Amryt Pharma Phoenix Tissue Repair InMed Pharmaceuticals Eloxx Pharmaceuticals RegeneRx Biopharmaceuticals Phoenicis Therapeutics BPGbio Key Topics Covered:1. Global Dystrophic Epidermolysis Bullosa Market: Industry Analysis1.1 Market Overview and Ecosystem1.2 Epidemiological Analysis1.3 Key Market Trends1.4 Regulatory Landscape1.5 Pipeline Analysis1.6 Market Dynamics2. Global Dystrophic Epidermolysis Bullosa Market (by Therapy Type), Value ($million), 2023-20352.1 Gene Therapy2.2 Cell-Based Therapy2.3 Topical Therapies2.4 Small Molecule Therapy2.5 Others3. Global Dystrophic Epidermolysis Bullosa Market (by Region), Value ($Million), 2023-20353.1 North America3.2 Europe3.3 Asia-Pacific3.4 Rest-of-the-World4. Competitive Landscape and Company Profiles4.1 Competitive Landscape4.1.1 Mergers and Acquisitions4.1.2 Partnership, Alliances and Business Expansion4.1.3 New Offerings4.1.4 Regulatory Activities4.1.5 Funding Activities4.2 Company Profiles Krystal Biotech Castle Creek Biosciences Abeona Therapeutics Amryt Pharma Phoenix Tissue Repair InMed Pharmaceuticals Eloxx Pharmaceuticals RegeneRx Biopharmaceuticals Phoenicis Therapeutics BPGbio For more information about this report visit About is the world's leading source for international market research reports and market data. We provide you with the latest data on international and regional markets, key industries, the top companies, new products and the latest trends. CONTACT: CONTACT: Laura Wood,Senior Press Manager press@ For E.S.T Office Hours Call 1-917-300-0470 For U.S./ CAN Toll Free Call 1-800-526-8630 For GMT Office Hours Call +353-1-416-8900
Yahoo
30-07-2025
- Health
- Yahoo
Lower bridge, ferry costs mean less of a barrier for people going off-Island for health care
Living with a rare disease that comes with chronic pain hasn't been easy or cheap for P.E.I. resident Christine MacFadyen. Just leaving the province to get treatment came with a hefty price tag of $50 to cross the Confederation Bridge — a cost that added up quickly, given that she's been unable to work and has had to make the trip for the past 16 years. MacFadyen has granulomatosis with polyangiitis, or GPA, which causes swelling in small blood vessels. The bridge toll, along with the cost of gas and hotels, has meant a major financial strain for her family. She estimates she had to cross the Northumberland Strait to the mainland roughly 25 times a year. The cost associated with travelling off-Island for health care eventually pushed MacFadyen's family into bankruptcy. WATCH | Cheaper bridge and ferry trips will help people who have to leave P.E.I. for health care: "Sometimes we didn't have the money to go across the bridge and that was a barrier to getting the proper health care," she said. That toll to cross the bridge to New Brunswick will fall to $20 as of this Friday, following an announcement by Prime Minister Mark Carney this week. Fares for passengers, cars and commercial traffic on the ferry service between eastern P.E.I. and Nova Scotia will also go down by 50 per cent. MacFadyen no longer has to cover the bridge toll herself thanks to Hope Air, an organization that provides financial support to Canadians who need to travel to access medical care. While she said the toll reduction will make a difference for others like her who have to travel out of province for health care, she thinks the cost should be free for anyone receiving medical treatment that's not available to them in this province. "If [treatment is] not available on the Island, then we have no other choice," MacFadyen said. The P.E.I. government does offer some out-of-province travel supports to Islanders, depending on their income, to cover costs like flights, ferry passes, gas cards, bus tickets and meals. In a statement to CBC News, the province said it gave out 1,420 bridge passes and 44 ferry passes last year to people travelling for health care. 'The number one side effect of cancer is debt' Grappling with debt from health-care expenses impacts more than just those with rare conditions. Heather Mulligan, the Canadian Cancer Society's senior manager of advocacy for Atlantic Canada, said the organization often hears from Islanders who say the financial support available to them is not enough. "The number one side effect of cancer is debt," Mulligan said. Many people living with cancer on the Island have no choice but to travel out of province to get the care they need. Mulligan said some patients go to off-Island appointments every month. She said lowering the bridge toll will eliminate some of the barriers patients face when accessing medical care. "Reducing the bridge fees and reducing the ferry fees not only is an affordability announcement, one that is meant to bolster tourism and interconnectedness, but it eliminates a financial barrier that some Islanders have to face when accessing an essential care like cancer care," Mulligan said.
