Latest news with #SanfilippoSyndrome
BBC News
16-05-2025
- Health
- BBC News
Hull parents 'devastated' after girl, 5, gets dementia
A Hull family said they wanted to raise "as much awareness as we can" after a five-year-old girl was diagnosed with a rare form of childhood dementia. Stuart said the family was "absolutely devastated" when his daughter Tilly was diagnosed with MucoPolySaccharidosis (MPS3A) or Sanfilippo genetic condition affects the cells in the brain and has no and 12 family members are taking part in the Three Peaks challenge this weekend to raise money and awareness. Tilly's parents, Pam and Stuart, found they were both carriers of the gene that causes the life-limiting, progressive fatal disease which affects just one in 70,000 live births. "Now we are over the shock of what that means for our family long term, the only thing we can do is raise as much awareness as we can by sharing events like this and raise as much money as we can to support the MPS Society," Stuart said."By doing this challenge, we hope to raise awareness of Tilly's condition as it is still pretty much unknown in the UK and hopefully raise funds to help the MPS Society continue supporting people and families affected by MPS, through research, support services and raising awareness." Tilly is currently the only child in Hull with the condition and is being treated at the Royal Manchester Children's on Friday, the family will attempt to scale Yr Wyddfa (Snowdon), Scafell Pike and Ben Nevis in the shortest possible to highlights from Hull and East Yorkshire on BBC Sounds, watch the latest episode of Look North or tell us about a story you think we should be covering here.
Yahoo
01-03-2025
- Health
- Yahoo
Mahomet mothers concerned with federal cuts impacting rare diseases
MAHOMET, Ill. (WCIA) — Friday was national Rare Disease Day, a time when advocates call on lawmakers to push for better treatment and funding for the 10,000 rare diseases impacting millions of Americans. 'The day just brings advocacy and awareness to the public and also people in the government where research and funding is happening,' said Abbey Houser, parent of a child with a rare disease. 'We're happy for a sentence;' Champaign man gets 31 years in prison for 2021 shooting Ashley Nash is a kindergarten teacher at Middletown Prairie Elementary in Mahomet. She's also a mother to a daughter with Sanfilippo Syndrome: A hyper-rare genetic disorder affecting one in 70,000 children, including Kinley. 'It's similar to childhood dementia,' Nash said. 'So, she will peak, which she has, and then she continues to lose the skills that she's gained.' Houser is another mother in Mahomet who has experience with rare diseases. Her daughter Caroline has Coffin-Lowry Syndrome. 'It affects her cognitively, physically,' Houser said. 'It's a genetic condition and X-linked, and as a female with it, that means that females fall in a range of abilities. I would consider her mildly affected.' Events for Rare Disease Day were supposed to happen this weekend in the nation's after federal layoffs and funding freezes within the FDA and National Institute of Health, it was postponed indefinitely. 'It made me more paranoid about eating;' UHS students react to 9 food violations 'The concerns are that when we're making cuts at those agencies, the funding going toward rare diseases, and all diseases, will be impacted for research and supporting people that have these conditions,' Houser said. 'It's concerning because of the needs of Sanfilippo kids or any type of rare kiddos that need that support,' Nash said. 'It could be nursing, it could be medical supplies, anything in that regard.' Both Houser and Nash joined thousands of Americans in adding their signatures to a petition from the EveryLife Foundation. It pushes government officials to provide a steady stream of support towards the cause. 'We signed a petition hoping that Congress knows that it's important to save these kids' lives,' Nash said. The petition from the EveryLife Foundation was delivered to Congress on Friday with more than 11,000 registered signatures. Copyright 2025 Nexstar Media, Inc. All rights reserved. This material may not be published, broadcast, rewritten, or redistributed.
