Race Against Time for Boy Battling Rare, Alzheimer’s-like Illness | Health News

By Dennis Thompson HealthDay Reporter

(HealthDay)

MONDAY, Nov. 2, 2020 (HealthDay News) — Connor Dobbyn is an energetic and loving 12-year-old, but he’s fading away every second.

Connor has Sanfilippo syndrome, a genetic brain disorder in children that experts compare to Alzheimer’s disease.

The boy already has lost some of what he’s learned in his short time on Earth, and every day he loses a little more.

“We’re on borrowed time. They don’t live through their teens,” said his mom, Marisa DiChiacchio, who lives with Connor in West Chester, Pa. “We have six years left, at most.”

Here’s the good news: Researchers think they’ve found a cure for Connor’s type of Sanfilippo, a therapy that replaces the bad gene in his body with a healthy working version.

But they need millions of dollars in funding to test this potential cure. Connor’s parents have set up a GoFundMe page with a goal of $3 million for a clinical trial that could save their son’s life.

“The research is done. It’s like right there, but they need the money to fund the clinical trial,” DiChiacchio explained.

Kids with Sanfilippo syndrome suffer from the build-up of a long-chain sugar molecule called heparan sulfate, which is normally used by the body to build cartilage, connective tissues, nerve tissues and skin, according to the Nemours Foundation.

These kids have a defect in one of the genes that make enzymes needed to break down heparan sulfate. Without those enzymes, heparan sulfate “builds up everywhere in the body and the brain,” explained Cara O’Neill, chief science officer and co-founder of the Cure Sanfilippo Foundation.

As the substance clogs the brain and body, kids begin experiencing the sort of mental and physical decline associated with dementia in seniors. Kids lose knowledge and skills they’ve gained, develop seizures, experience hearing and vision loss, find it difficult to walk and move, and even struggle to chew and swallow food, O’Neill said.

“These kids become nonverbal. They lose their ability to walk and talk. They’re in wheelchairs and in strollers. Almost all of them develop seizures and different movement disorders,” DiChiacchio said. “There’s literally no cure at this point. These kids are dying.”

Sanfilippo syndrome is relatively rare, occurring in about 1 out of every 70,000 children, O’Neill said.

“We think it’s underdiagnosed because it’s usually masked as autism,” said Glenn O’Neill, president and co-founder of the Cure Sanfilippo Foundation. “Kids exhibit the typical symptoms of autism early in life while parents are trying to figure out what’s going on. But then things actually begin actually going backwards, in the wrong direction.”

That’s what happened with Connor. He’d been struggling with developmental delays since he was 1 year old, and at age 5 he received a diagnosis of autism, DiChiacchio said.

But during a psychological evaluation in the third grade, educators were stunned to find a drastic decline in Connor’s IQ, his mom said.

“It was like a bomb went off,” DiChiacchio said. “His average IQ in kindergarten was 100, and

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Black-Owned Gym, Elite Evolution Is Battling to Stay in Hackney and Help Its Community

Hackney was a different place a decade ago. Back in 2010, the area was infamous for being the most deprived borough in London and the sixth most deprived local authority in the country. Back then, to outsiders at least, the mere mention of its name was enough to elicit looks of both sympathy and concern, which, given that it was home to a notorious stretch of road known as ‘murder mile’ and was synonymous with crime, violence and poverty isn’t any wonder. But gentrification works fast in the capital and just two years later, in 2012, the year The Olympic Games was held on Hackney’s doorstep, The Observer commented on how: “The area’s traditional demographic – white working class, Turkish, Asian and Afro-Caribbeans – increasingly share the space with newcomers, who attend arty happenings…and then go for some organic Sussex wine.”

Hackney’s transformation has accelerated in the years since, and the borough is now commended for its social mobility credentials, while the number of mums sipping on “flat whites, nibbling courgette cake and chatting as their kids fight over an abacus” – again witnessed by The Observer– has multiplied too. Like most areas, gentrification has brought positives and negatives, with the main negative in Hackney being that some of the community’s residents and businesses, good people who have been there all along, have been pushed out, while the liberal elite has been transported in. But whoever the borough has been home to, one business has stood firm and continues to offer a place for all local residents to train at affordable prices. Just as it has done since 2010.

When the word ‘black’ is associated with something positive, we should all shout about it

Owned by three born and bred Hackney boys, Afolabi Akinola, Joshua Oladimeji and Emeka Obanye, Elite Evolution is a black-owned gym. It’s important to say that because, as Oladimeji observes, the word black is associated with so many negative narratives, when it’s associated with something positive, we should all shout about it. And what could be more positive than three young, black entrepreneurs who for the past decade have successfully fought to keep their business in Hackney, while holding second jobs in education and the prison system, in order to serve the community that moulded them.

“I felt like it was our responsibility,” says Oladimeji. “We didn’t shy away from that, we believe that we needed to be positive, we needed to be out there and we needed to show that there’s a safe space for anybody to come in and feel like this is somewhere they can train, where they can work out and won’t be discriminated against. [And for trainers] they’re not thinking that they can’t go higher than being just a trainer. They can be managers. They can be owners.”

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Elite

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High school lacrosse player Gavin Schaffer battling cancer

Gavin Schaffer is a junior at Denver South High School fighting Stage 4 Hodgkin’s Lymphoma while using lacrosse as an outlet to heal.

DENVER — With high school lacrosse on hold, club teams have filled the void.   

For one player from Denver South, it’s been a life changing experience.   

“Its kind of just getting away from everything and not really focusing on anything in particular,” says Gavin Schaffer, a junior at South. 

Lacrosse is called the medicine game. Native Americans believe it can lift spirits and heal members of the community. There’s no question the sport helped Schaffer.

“Everyone always has this stereotype that cancer patients can’t really do anything. Like they just sit at home and do nothing,” said Schaffer, days away from starting his sixth chemotherapy treatment. “I just really feel (playing lacrosse is) a way to get out of that and be normal. With all your friends and stuff and not have to worry about what you’re going to have to go through in the next week or two.”

Six months ago, Schaffer was diagnosed with Stage 4 Hodgkin’s Lymphoma. The same disease his sister Lilian battled and beat earlier this year.   

Chemotherapy didn’t keep the 16-year-old from playing lacrosse. After five treatments, he hasn’t missed a single practice or game for his club team, South Elite Amateur Lacrosse.

“I remember at the beginning he didn’t look as well as he does now, but he was still out there fighting and putting in the work just like everybody else”, said Thomas Culhanne, a senior defenseman. 

“There’s no way I could stay at home and do nothing,” said an emotional Schaffer fighting back tears. “Because I just, I just…you know.”

“Chemotherapy takes everything out of you.  And I have absolutely no idea how he does it,” said Evan Westervelt, a junior defenseman. “It’s incredible. Especially the way he performs at such a high level.” 

Schaffer is on track to be in remission by the end of the year. And that’s a good thing, because he has big plans for 2021 as spokesman for the Headstrong Foundation. It’s a non-profit which raises money to improve the lives of those affected by cancer.

“I just feel that if sharing my story will help people donate and help that Headstrong Foundation to help kids who are going through a lot worse than me. Then I feel like it can also cure cancer and give money to research and give these kids homes to help the get treatment to make them get better,” said Schaffer.

Hope is the medicine that lacrosse gave Gavin Schaefer on his journey to good health. He began his final Chemotherapy treatment on Wednesday and was on the field that night helping South beat Kent Denver 11-6.   

They’re now two wins away from a championship.  

For more information on the Headstrong Foundation, including how to donate, click here. 

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