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Horrible Mother's Day - Baby Boy Diagnosed With Rare, Terminal Disease Just Before Holiday

Alzheimer's Disease is thought of as a condition that plagues elderly people. Two heartbroken parents from Boston, Massachusetts recently learned that children can get a rare version of the disease. They're now trying to fight for their son's life.

Sam and Taylor Sakby are new parents and doted on their baby, Purnell, from the moment he was born. Purnell seemed to be healthy, despite a few gastric problems. But when he was six months old, the parents took him for a routine check-up with concerns.

"We noticed he stopped reaching milestones and was actually losing skills. As new parents, we at first thought he'll reach those milestones on his own time," said Sam. "But we were seeing other babies sitting and crawling. Purnell was so far from the normal timeline that we knew something was off."

Doctors sent Purnell to Boston Children's Hospital to meet with genetic specialists. He was later brought to a specialist in New York. After a battery of tests, doctors had a diagnosis for the mom and dad.

The Sakbys were looking forward to their first Mother's Day with Purnell, but the news doctors had for them put a serious damper on the plans. "That's where we were given the devastating death sentence," said Sam.

Purnell was diagnosed with Niemann-Pick Type A, an extremely rare form of childhood Alzheimer's. "Niemann-Pick is rare on its own but having type A is something else," Sam added.

The cause of the disease is genetic and happens when both parents carry the gene. A missing enzyme causes fat to break down, eventually resulting in organ failure. Type A is the most aggressive form and attacks the brain. There are fewer than 1,200 worldwide cases of Niemann-Pick type A. Children born with the devastating illness rarely live to see their third birthday.

Despite the devastating news, Sam and Taylor didn't waste much time feeling sorry for themselves. They began doing research, educated themselves, and started looking into clinical trials. They also started a fundraiser to help put Purnell through expensive gene therapy treatment, which may slow the progression of the disease. The ambitious parents are trying to raise $750,000.

"You think of all the things that your child has ahead of him, and then you hear something like this, and it cuts short all those dreams and wishes," said Taylor. "We want him to have a future, to grow up, to do the small things like saying "mama" and "dada", to more long-term things. You think about him getting married, you know, what he’s going to do for a career."

The clock is ticking; if the treatment doesn't start before Purnell reaches about 18 months old, it'll be too late. He has only five months to go. The Sakbys are hoping to raise the money in time, and are working avidly on their campaign. They say if they don't, they'll give it to another child who needs the therapy.

Source: Daily Mail
Photo: MailOnline

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