A mother desperate to save her sick son

Photo Hugo Duchaine
Julie Monette holds the hand of her son Matthew, aged 10, that she wants to heal his rare neurodegenerative disease.

Hugo Duchaine

Wednesday, December 6, 2017 01:00

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Wednesday, December 6, 2017 01:00

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The mother of a 10 year old boy suffering from a rare genetic disease that prevents her from walking and eating is ready to do anything to the save, up to try an experimental treatment tested only on mice.

“There’s nothing else […] It is a chance that one takes, but it is the only one we have,” says Julie Monette, stroking the hair of her son, Mathieu.

He is suffering from the neurodegenerative disease gangliosidosis GM2 variant AB, a diagnosis that he has received at Sainte-Justine hospital after more than two years of reviews.

A disease so rare, that it would currently be the only known case in the world, according to his doctors, shows his mother.

“This is the lottery of bad luck “, said with a smile resigned to the 41 years old woman.

The resident of Sainte-Justine-de-Newton, in Montérégie, has even launched a campaign sociofinancement to raise the million dollars necessary to a researcher from Kingston, Ontario, to develop an experimental treatment.

“It is scary, because it is only at the stage of the mouse, but I believe in it,” says Ms. Monette, about the work of Dr. Jagdeep Walia. It was found by chance by searching the internet during one of his many sleepless nights searching for a miracle for his son, which would have more than two years to live.

“When you do say that your son will not know the teenager, it is the end of the world “, breath Julie Monette.

Everything changed In 5 years

The researcher was working on the other forms of gangliosidosis, a little more widespread, before discovering the existence of Mathieu.

Up to the age of 5 years, his boy had led a completely normal life, supporting his mother. She recalls that he would wake up always with a smile on his lips and he even liked the broccoli. More than anything, he loved to ride with his ATV for a child.

And then, quietly, he began to have difficulty speaking and knocked around. He also began to have seizures. The Newspaper had also met the family four years ago when she fought to have the money to adapt his home. Still without a diagnosis at the time, she couldn’t receive grants.

The family is now fighting to get treatment, then the disease is technically incurable. It now takes an experimental drug that seems to slow the progression of the disease, while he is fed and confined to a wheelchair.

“He is trapped in this little body that is no longer responding […] It is clueless, and helpless,” said Ms. Monette, the tears in the eyes.

$1 million

This is why she has launched a campaign on the website Go Fund Me. She wants to raise the money needed for the researcher to move forward as quickly as possible, as early as next year.

“I’m going to pick up me, the million, I can’t believe that a question of the money is going to prevent my son to live “, she advocates.

Then, if the treatment is working and allows him to give a better life to his son, ” says Julie Monette, it will be available for the next child with the same disease, as rare as it is.

Funding very difficult to find

The researcher who tries to find a cure against the disease of the son of Julie Monette recognizes that funding is difficult to obtain for a rare disease.

“The people don’t feel that it is important “, said the doctor Jagdeep Walia, who works for Queen’s University in Kingston, Ontario.

The disease gangliosidosis GM2 variant AB is so rare, he continues, that the researchers do not know its frequency.

He adds that genetic diseases are similar, such as Tay-Sachs or Sandhoff, can be found in a birth over 300, 000 or 400 000, but this calculation is impossible for the GM2 variant AB.

The son of Julie Monette is the only patient diagnosed of which he knows the existence.

There is no foundation dedicated to raising funds for research against this disease, as there is for those of the heart or cancer, for example.

Photo courtesy

Dr. Jagdeep Walia, Researcher

Encouraging results

Dr. Walia intends to apply for research grants to the government next year.

However, he explains that he always welcomes the help of a patient who would like to contribute and expedite the process.

The disease gangliosidosis GM2 variant AB is caused by the absence of a gene, which prevents the production of a protein, which in turn allows to eliminate lipids in the brain. This accumulation of lipids in the central nervous system destroyed then of the cells.

“Our results [on mice] are encouraging and have shown that we can do to stop the accumulation of fat,” says Dr Walia.

On humans

It injects a capsule into the blood, a bit like a vaccine, which is able to produce the missing protein. A concept, he says, who has worked in clinical studies for other diseases.

He should test the process on humans to see if it can stop the progression of the disease and even restore motor skills lost to the sick.

However, this is not a miracle cure, he warns. The damage already incurred to the brain remain to be irreversible.