麻豆影视

TORONTO -- A new gene therapy for an extremely rare disorder has offered two Canadian children a new chance at life, allowing them to move on their own after years of being trapped within their own bodies.

The disease is called AADC deficiency, and known more commonly as 鈥榩ediatric Parkinson's鈥�. It鈥檚 a debilitating genetic disorder that effectively cuts off communication between cells in the nervous system, affecting movement.

For Rian, a little girl from Toronto, this meant that at four years old, her body was still like a newborn鈥檚 鈥� she couldn鈥檛 support her own head, eat on her own, or play the way other children could.

鈥淪he had absolutely no functional, purposeful movement,鈥� Rian鈥檚 mother, Shillann Rodriguez-Pena, told 麻豆影视. 鈥淚t essentially was like her body was a prison that she was trapped in. And we could see the sparkle in her eye, we could always see that she was in there and the desperation of trying to get her out, and how to help her out 鈥� it was torturous, truthfully.鈥�

Those who have pediatric Parkinson's also suffer from episodes called oculogyric crises (OGC), in which they experience muscle spasms, uncontrollable rolling of the eyes, agitation and even pain.

In a post on her Facebook documenting Rian鈥檚 journey battling this disease, Rodriguez-Pena wrote that Rian suffered from OGCs every three to four days, and that her episodes lasted up to eight hours.

Rodriguez-Pena told 麻豆影视 that it was hard to see her daughter suffer.

鈥淪he was going through panic attacks and just the sheer frustration of wanting to do something and her body not allowing her to,鈥� she said. 鈥淏ecause cognitively, she understands so much.鈥�

Historically, there has been no treatment, just disability and an early death, with the disease often proving fatal.

But in September of 2019, Rian became one of the first recipients of an experimental gene therapy.

And within weeks of treatment, she began to move.

First it was just her head. Then she could hold objects.

Now, at six years old, she can sit on her own. And her mother is blown away.

鈥淚t really is modern day miracle stuff,鈥� she said. 鈥淚t really is. The science is absolutely miraculous.

鈥淲e prayed for years [鈥�] to be able to see it for our girl, and it's incredible.鈥�

In a , posted in January, she opens a cupboard door on her own while sitting on the floor in her family鈥檚 kitchen.

Smiling and laughing, she spins around and reopens the cupboard a few times while her mother, filming, narrates.

鈥淣ew skill alert!鈥� her mother praises her in the video. 鈥淎re you so proud you figured that out?鈥�

And after the treatment, those paralyzing seizures never returned.

It鈥檚 incredible progress, according to Dr. Saadet Andrews, one of many doctors who used to treat Rian in the early years of her life, when she was in and out of the hospital constantly.

鈥淭he improvements since the gene therapy is amazing,鈥� he said. 鈥淪he keeps improving very quickly. To give you an example, from [鈥�] nine months to almost four years of age, she didn鈥檛 do anything. And from a few months of the gene therapy, she just started holding her head and then started slowly sitting up to show us some great improvements.鈥�

How the new gene therapy works is that the genes needed to restore movement are actually put into AADC adenoviruses, and then injected deep into the brain. Once there, the DNA is taken up by cells, and starts correcting the defect.

The therapy is so new that only 23 children worldwide have received this treatment. All of them were treated by Dr. Krystof Bankiewicz, one of the world鈥檚 leading experts in pediatric Parkinson's.

鈥淚 never expected this to be to be as significant as what we are seeing,鈥� Bankiewicz told 麻豆影视.

Bankiewicz is a professor and the director of the Brain Health and Performance Center at the Ohio State University College of Medicine. He described the first ideas that would eventually become this gene therapy in a paper 25 years ago.

鈥淸I鈥檝e] devoted decades of my life to develop this technology and [I鈥檓] very, very pleased that they can change people's lives,鈥� he said.

鈥淲ithout the gene therapy, they would have never been able to achieve the milestones which they have had so far.鈥�

One of the big positives it that so far, it appears that only one treatment is necessary.

鈥淚t鈥檚 a one-time treatment, as far as I can tell,鈥� Bankiewicz said. 鈥淣o one has plateaued, they keep on improving.鈥�

Rian isn鈥檛 the only Canadian to have benefitted from this new therapy. A seven-year-old in Vancouver, B.C., is now learning to walk after her life-changing treatment.

Jasmine suffered from OGC up to three times a week before her surgery, her parents told 麻豆影视 in an email.

鈥淥ur life was dark,鈥� her father, Seila Hok wrote, adding that he had no time to think of his own health, only his daughter鈥檚. He and his wife would take turns to sleep at night so that one of them could keep an eye on Jasmine and make sure she was okay. They suffered abusive comments from their community for having 鈥渁 kid like Jasmine,鈥� which was heartbreaking for them.

The family was able to send Jasmine to receive the new gene therapy in Ohio as part of a clinical trial funded by the lab.

It鈥檚 been 18 months since she received the therapy, and Jasmine is 鈥渁 different Jasmine,鈥� according to her family.

鈥淪he is happier, healthier,鈥� Hok said, adding that she no longer suffers from OGCs, and is able to sit, roll around and eat.

A recent video of Jasmine shows her sitting on an exercise ball on her own, smiling, and vocalizing and grabbing a toy.

In another video sent by the family, she is being trained to walk.

Bankiewicz is awaiting publication of his preliminary study in the coming weeks.

But although this new therapy is extremely promising, there are still numerous barriers to delivering this care, one of them being cost. Therapies for rare diseases aren't profitable, so all this is funded by donations, fund raising and charities, with many other children waiting for treatment.

Rian received her gene therapy not in the U.S., but in Poland, where Bankiewicz 鈥� who is originally from Poland 鈥� was offering surgeries as part of 鈥渃ompassionate use鈥� clinical trials for those who could not wait for the therapy to be offered in the U.S.

鈥淎lthough it was a risky surgery 鈥� it was an eight and a half hour brain surgery in a foreign country 鈥� the risks associated to not having the surgery were far more terrifying,鈥� Rodriguez-Pena said.

She added that it cost the family 45,000 euros 鈥� just under $68,000 鈥� to make the trip for the treatment which Bankiewicz says was done not for profit. Some of it was their own savings, while some was raised through websites like GoFundMe.

鈥淎nd that鈥檚 actually quite a modest price,鈥� she said. 鈥淏ecause when you look at other rare diseases such as [spinal muscular atrophy], the price point is astronomically larger.鈥�

Some charities, such as , help families battling rare diseases to gain access to new treatments like this one. AADC deficiency is one of the ultra-rare diseases that CCF is trying to help cure by supporting new therapies.

鈥淲e want to make sure that what happen to Jasmine and Rian happens for other children,鈥� Laura Hameed, executive director of CCF, told 麻豆影视 in a phone call. "These therapies are clinically promising, but don鈥檛 get the interest of the biotech industry because they are too small, so non-profit is the best way to make sure they are advanced.鈥�

Another barrier is that so few people are aware of these type of diseases. And that鈥檚 one reason that families like Jasmine and Rian鈥檚 are coming forward to share their stories.

鈥淭here's only 130 kids approximately in the world with our disease,鈥� Rodriguez-Pena said. 鈥淎nd the fact that there was a treatment that could so drastically change [Rian鈥檚] quality of life 鈥� I feel like there's a lot of value in sharing that story.鈥�

鈥淭here are still so many kids with AADC disease [who] need to get surgery,鈥� Hok said, adding that the most important thing is for others to learn about this disease and about the new gene therapy that can turn things around.

These families have had their childrens鈥� lives transformed for the better 鈥� and now they鈥檙e hoping to help others transform young lives too.

鈥淚 think gene therapy as a technology and medical procedure is gaining [a] tremendous amount of acceptance right now, and I think success is being seen in multiple diseases,鈥� Bankiewicz said. 鈥淭here are also other disorders outside of the brain which could benefit from this technology.鈥�

He鈥檚 already working on trying to apply this gene therapy to adults with Parkinsons, and hopes that they can expand the current gene therapy to additional sites, so more children can be helped.

Rodriguez-Pena said that the family thinks of Rian鈥檚 surgery day as almost a second birthday.

鈥淚t's as if she was reborn in so many ways,鈥� she said.

After she was treated, Rian got a puppy, who happened to be born on the same day that she had her surgery.

So what is the puppy鈥檚 name? 鈥淏anks鈥�, of course, after the doctor who performed the miracle procedure.