Cerliponase alfa

[We are in the process of arranging for cerliponase treatment of a 4 1/2 year old boy,]

A family from California is feeling hopeful for their four-year-old son who was born with the same rare disorder that killed their first-born. 

Ely Bowman was born with Batten’s Disease, a rare nerve disorder that typically causes seizures, speech loss, paralysis and eventually an early death.

His brother Titus died from the same condition when he was just six, and there is no known cure.

But in 2016, Ely was selected to participate in a groundbreaking drug trial in Ohio that will hopefully slow down the progression of the disease, if not stop it completely.

So on September 27, just 10 days after his older brother’s death, Ely and his parents, Bekah and Danny, flew from their home in Irvine, California to Columbus to start treatment…

Titus and Ely were born with late infantile Batten’s disease, meaning they had a normal birth and did not start displaying symptoms until they were between two and two-and-a-half years old.

At that age, Titus started having trouble speaking and became incredibly clumsy.

Then at three-and-a-half he started having seizures and eventually completely lost the ability to speak, to move and even to eat.

His parents said they took him to doctors and specialists for more than 14 months before finally reaching a conclusion.

‘Once we found out and I looked  up symptoms it clicked, he was textbook,’ Bekah told Daily Mail Online.

‘He’d been to so many doctors before that who told us first that he had epilepsy, that he was autistic, and other things. But this diagnosis made sense.’

The family was heartbroken, and learned that the disease was caused by a genetic mutation passed down by both parents.

‘So it’s rare that a child has it at all,’ Bekah explained.

‘But because we both had the mutation there was a 25 percent chance of passing it on, so we had Ely tested even though he wasn’t showing any symptoms yet.’

The tests came back and confirmed that their second son had the same condition. When he reached two-and-a-half he started showing the signs.

Like his brother, Ely’s speech started to become delayed and he started getting clumsier. Instead of walking flat, Ely walks on his toes.

‘Doctors told us that a lot of times siblings with Batten’s follow the same timeline, so we were expecting these things to come about when they did,’ Bekah said.

On September 17, 2016, Titus died in his sleep from complications caused by Batten’s disease.

Just 10 days later, the family had to get on a plane to head to Columbus, Ohio, because Ely had been accepted into a drug trial.

‘It was a whirlwind. We were feeling hope and joy for Ely being accepted into the trial, but also pain and grief for the loss of our first child,’ Bekah explained.

For the next six months the Bowmans traveled in between Irvine, California and Columbus, Ohio, every 14 days for enzyme transfusion therapy.

The treatment replaces some of the enzymes that Ely’s body cannot produce and clean up the waste buildup in his cells.

Drugs are administer through a port in his brain, which was put in surgically…

‘Ely is four now and hasn’t had a single seizure, which is almost unheard of. His brother had already started having them when he was at that age,’ Bekah said.

‘So far he isn’t changing really. He’s not getting better, but he’s also not getting worse which I think is more notable.’

After the six months of traveling across the country twice a month for treatment, the family was relieved to hear that they wouldn’t have to do that any longer.

The Children’s Hospital of Orange County was picked as the second location in the country to start treating Batten’s patients with enzyme transfusions…

Ely will continue undergoing the enzyme transfusion treatment for the rest of his life unless doctors find a cure.

The drug is now out of its trial phase – which means it is covered by insurance – but even still it is expensive, so to raise money for the treatments Ely’s family is crowdfunding.

Even though Ely has some speech and learning delays, Bekah said he acts like a normal and happy child.

‘He doesn’t know, and he’s incredibly joyful,’ she explained.

‘He just spreads joy wherever he goes, and his brother was the same way.’

Speaking about Titus’s passing, Bekah said she isn’t sure whether or not Ely fully understood his death.

‘Before his brother died, they were best buddies. They did everything together,’ she explained.

‘So when Titus started to get really sick and couldn’t really be a big brother anymore,  Ely was frustrated at first, then eventually got used to it.

‘He would get up in Titus’s chair with him and bring toys so he could help him play. It was a very big boy thing to do for such a little boy,’

The night Titus died, Ely came back for one extra hug after he’d been put to bed, which his mother said he didn’t normally do.

And the next morning, she said he looked for his brother all over the house, not fully understanding why he couldn’t find him.

‘We were easy with him, but also very frank, you know we told him Titus went to heaven and that we were very sad,’ Bekah said. 

Now it’s been nearly a year since Titus’s passing, and Bekah said there’s still a strong bond between the brothers.

‘He still watches videos on my phone of the two of them when they would play together, and he still looks at a book of photos we have of the two of them, so there’s definitely still the memory there,’ she explained.

http://gearsofbiz.com/battens-disease-california-boy-undergoes-drug-trial/13985

See:  http://childnervoussystem.blogspot.com/2017/04/cerliponase-alfa-for-late-infantile.html