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"Race against time": something & # 39; I Toronto is trying to raise $ 3 million for the treatment of rare genetic disorders son


It's a desperate race against time, and the race to hope. Terry and George Piravalaki trying to save his son's life, trying to find a cure that does not exist. They intend to raise at least $ 3 million to fund a pilot process in the United States.

Michael 18 months, and his doctors say he & # 39 is the only child in Canada, whose diagnosis SPG50 – is a rare genetic disorder that threatens the ability of the kid to talk, walk and breathe.

Michael's mother Georgia Piravalakis said that he is healthy and happy child, but she and her husband began to notice that do not meet the milestones, do not develop at the same pace as his brothers.

Energetic kid can not go, despite the clear desire to move. He smiles, laughs and molds, but said of his first words. He is healthy as long as it is not from the & # 39 developed fever and does not take the attack, which sometimes takes a few hours to ask the staff of the hospital.

Genetic testing in hospital Sick Children in Toronto found devastating diagnosis in April.

"They told us that you know that he will never reach the level you want it to be reached, it probably never will say" – said Georgia Piravalakis, choking back tears. "He probably will never develop normally mentally. He will probably be in a wheelchair."

"We just cried"

Father Michael said it was the darkest moment in my life.

"Once they told us, and it was like that fog was over our eyes", – said Terry Piravalakis. "It was similar to what you are wearing sunglasses with a touch on the ones that you have not even seen. We just came in and rolled up into balls and just cried."

See how parents refuse:

Terry and George Piravalaki say, to make a diagnosis that their son's rare genetic disorder. 12:43

Guilty – no gene. The only hope: gene therapy, which in theory could replace it. But there is no proven treatment Michael illness. In the world, only 57 reported cases, including Michael, according to pediatric neurology at Boston Children's Hospital.

The disorder is so rare that pharmaceutical companies or government little financial incentive funds research for a cure.

After the search the Internet for any hope of steps, it became clear that Michael's parents to create their own.

"I said," We can not accept this ", – said Terry Piravalakis, his red ablyamanyya eyes full of tears." There was no sit back and watch as it degrades. Just had to go ahead and give him the best chance in life that we could. "

the clock is ticking

The clock is ticking, and the disease does not wait.

Hearing the fear, the parents of Michael caused hundreds of doctors, sent thousands of e-mails, and they did not stop until he found a group of researchers in Dallas who want to try to create a treatment that will replace the missing gene Michael. Gene therapy, which may stop may even cancel degeneration, which is already installed.

Dr. Berg Minasiyan with & # 39 is the leadership team at UT Southwestern Medical Center in Texas, one of several research institutions in the world, which creates customized treatments for rare genetic disorders.

Michael's parents, George and Terry, lost their lives in the hope that gene therapy could save his son, and perhaps also to help others. (Evan Mitsui / CBC)

Pediatric neurologist Dr. Minasiyan left the hospital Sick Children in Toronto, so that he could devote the remainder of his car & # 39; EASURES help children like Michael.

"I think that the loss of a child – it's probably the worst thing that can happen to someone" – Minasiyan said. "And because these parents are hoping that we can do better, so we can stabilize, and in some cases we can even cure them."

In the case of Michael gene therapy it sounds simple, and Minasiyan believes that this is truly a thing. He and his team have the potential to produce a virus that moved the missing gene through the cerebrospinal fluid of Michael and his brain. This will be the world's first such option.

Watch as Dr. Minasiyan discusses gene therapy:

Dr. Berg Minasiyan, a pediatric neurologist at UT Southwestern Medical Center in Texas, talks about the sense of hope that parents despite the dramatic costs of clinical trials for gene therapy. 12:30

"Zamenyayuchy this gene and any percentage of his brain cells, we hope to improve some of these aspects may be, he will be able to walk, there will be less of seizures and not degeneravatstsa, as he does," – said Dr. Minasiyan. "The real answer is: we do not know he would be one of the first if not the first people who ever had this disease, to replace the gene.".

It's not a guarantee, but hope for the staggering costs. A clinical study in the US will cost at least $ 3 million, money that some & # 39; I have to collect. They have accumulated savings and rebuilt his house to finance the first phase of the trial. But they need a lot more.


They started GoFundMe pp and their local communities are organizing a fundraiser on behalf of Michael. One neighbor even knocked on the door with a coin bank.

Piravalaki grateful for every percentage.

"I have taken," said Terry Pivalakis. "We never waited for someone to help us. We thought we would be alone in this journey" …[then] one person talking to another, and now we have all these strange people who help us. I can not express my gratitude. It's unbelievable.

Michael Piravalaki plays Terry's father. (Evan Mitsui / CBC)

It's about saving the life of one child, and it has the potential to help others. Help that society has not only to treat Michael's illness. The study has the potential to be successful in helping other genetic disorder in children, and even the promotion of research on more complex brain diseases in adults, including Alzheimer's disease, said Minasiyan.

According to him, all the work in the field of gene therapy for children based on future therapies.

"Imagine a time when someone has Alzheimer's disease, and we can kind of predict, and we know that, for instance, these 12 genes are responsible, and if we break this set of 12 and fix the three of them, they are no longer will have Alzheimer's, "he said.

"What we are learning right now with these small children with their devastating diseases, it is to reach the point where we can get in adult patients and help them."

Something & # 39; I Pivalaki launched a campaign to raise funds to try to pay for medical tests Michael. (Evan Mitsui)

In the end, the real enemy – time. Even if they collect all the money, it will be at least 18 months before the treatment is approved by the Food and Drug Administration. Michael's parents kept hope that will not be too late.

"This is an extremely urgent", – said Terry Piravalakis. "If we do not get the money, all that means is that Michael will start to lose more feet. It will be relaxed. He will reach out even further. So it's really a race against time .."

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