Latest news with #childhooddementia
Yahoo
30-06-2025
- Health
- Yahoo
'She Stopped Talking At 2': 5-Year-Old's Dementia Diagnosis Began With These Early Warning Signs
A grandparent has opened up about the early warning signs that led to her grandchild's devastating dementia diagnosis. Sabrina Peake said her granddaughter Esmay Ford, who is five, stopped talking at the age of two. She was also constantly 'picking up colds', remaining ill 'for weeks at a time', and her hair was falling out in 'big clumps', according to the Mail Online. Esmay's mum Alisha Morris was concerned for her daughter, so she took her to the doctor's and was told she had an autoimmune disease and overactive thyroid. But after genetic testing more recently, the family were given the heartbreaking news that their daughter has Sanfilippo syndrome, a rare form of childhood dementia. Children with this disease lack an enzyme which breaks down large sugar molecules. As the molecules accumulate in the cells of the body, they cause irreparable damage to the organs, including the brain. Childhood dementia occurs because of progressive brain damage. It is caused by over 100 rare genetic disorders, which children are born with, according to the Childhood Dementia Initiative. It's estimated one in every 2,900 babies globally is born with a condition that can cause childhood dementia. Unfortunately, because of the nature of the disease, many children diagnosed with the cruel condition don't live past 18 years old. The symptoms are similar to those in adults, and can include: Memory loss Confusion Trouble concentrating, understanding, learning and communicating Personality changes Disturbed sleep Behavioural issues such as hyperactivity Emotional issues like anxiety and fear. There are also specific clinical features of Sanfilippo syndrome, such as: Coarse facial features / coarse and thick hair Frontal bossing (prominent forehead) Macrocephaly (a larger sized head) Chronic nasal congestion Toe-walking Seizures Hearing loss Lack of fear (of danger) Gastrointestinal discomfort and colic Increased food intake or nursing. Esmay's family, who are based in Devon, said her condition will progressively worsen. They are currently raising funds to take her to Disneyland and also buy specialist equipment to care for her, like a modified bed. The Sanfilippo Children's Foundation notes: 'As the brain gets progressively damaged, children experience severe hyperactivity, disordered sleep, loss of speech, cognitive decline, cardiac issues, seizures, loss of mobility, and finally death, usually before adulthood.' Esmay's grandmother Sabrina Peake told the Mail Online: 'We've had to come to terms with the fact that we will lose her, and that things will be extremely tough going forward as she gets worse. 'Our biggest fear aside from losing her at such a young age, is watching her suffer.' It's estimated that 700,000 children globally live with childhood dementia. In the UK, it's estimated 204 die from the disease each year. The Sanfilippo Children's Foundation said there is no treatment or cure for those with a diagnosis, however several clinical trials have already been completed or are underway. So far, the foundation said gene therapy looks to be the most promising. 'My Child Is Worried He's Not Real. He Ended Up Sobbing Because Of It' It's Not Social Media – What Teens Say Is Damaging Their Mental Health Most Dementia Risk Starts In Childhood And Even Infancy, Scientists Warn
BBC News
18-06-2025
- Health
- BBC News
Wiltshire family's mission to help child, 9, with rare disease
The family of a nine-year-old girl with a life-limiting illness has launched a mission so she will be able to make special memories with her loved from Swindon, Wiltshire, has a rare type of Batten Disease, a neurodegenerative condition that is often referred to as a form of childhood a bright and bubby toddler, she can no longer walk, can only say a few words and is going blind. Her family wants to raise about £3,600 for an improved buggy that would allow her to visit beaches and other locations with difficult terrains. Her father Dave said Addy shows "love without boundaries" and that the opportunity to share that love with people outside would "bring her alive". Addy currently has one wheelchair and her parents, who are working with charity New Life to raise the money, have said the new buggy will give her "extra support" as her condition deteriorates. Since her diagnosis at the age of four, her father Dave said adjusting to her needs has "completely changed their lives".Addy's family have "given up jobs, moved house and moved schools" in order to be able to provide her the best has also made extensive changes to the family home so that Addy can be "safe, well and enjoy life". Earlier this year, Addy's family were told she would continue to get access to a drug which she began taking as part of a trial, and is helping to keep her mother, Hayley, said the new buggy would allow the family to take the next step of introducing Addy to new environments such as "woodland walks and the beach"."Her [current wheelchair] is brilliant, but it is limiting." [The weight of Addy and her chair] "is just way to heavy to go down to the beach. The wheels would just sink in the sand," she said. She added the family had "wonderful friends" who had already contributed towards the cost of the new equipment.
BBC News
16-05-2025
- Health
- BBC News
Swindon girl with Batten Disease will continue to get vital drug
A family has been told their child will continue to get access to a drug which she began taking as part of a trial, and is helping to keep her Addy Clarke, from Swindon, has Batten Disease - a rare degenerative disease that has no agreement has been reached that existing patients will continue to have the drug Brineura, which costs £500,000 per patient per year, via the it has not been recommended for future patients "due to its high price and the limited evidence of long-term effectiveness", said the National Institute for Health and Care Excellence (NICE). Addy's mother Hayley Clarke said she is "absolutely thrilled and relieved and so thankful" at the news but wants to get access to the drug for other children. "There's still another half a fight to go to get it secured for all children, future children most importantly," she said the family could have lost Addy by now, that she should be blind, but her eyesight has been preserved and she can still make herself of the main symptoms of Batten Disease is childhood dementia. "We're just so thankful for the time that this drug is giving us with her," said Hayley, who also told the BBC about her daughter's passions for lions and swimming."I think I'm still processing that it's a yes for our daughter," she added."[I'm] almost trying to be really guarded with hope because we've had too much shattered hope along the way."Hayley said the family has had a lot of support from people around them as well as local hospice charities and the council. The family went with other with members with Batten Disease to Westminster to ask for continued access to guidance from NICE did not recommend using it for future patients due to cost and long-term effectiveness, but said it had reached a deal with the NHS and manufacturer BioMarin for those already using it and anyone signed up by the end of 2025. Helen Knight, director of medicines evaluation at NICE said: "We know this is not entirely the news people in the Batten Disease community were hoping for. However, this is not the end of the story. We will continue to work with all parties towards a solution."The charity Batten Disease Family Association said it was pleased with the agreement, but said as the NICE guidance is a draft and not final, it will continue to push to make Brineura accessible to all children who need it.
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.
