Launch of the GoFundMe campaign for the Stony Plain family whose granddaughter suffers from a rare genetic disease

Content of the article

The Kaisers need a miracle.

Content of the article

On October 4, Heather and Jason Kaiser of Stony Plain were heartbroken to discover that their eight-month-old daughter, Viola, had been diagnosed with an extremely rare genetic condition called Sandhoff disease. They were told that Viola had two to five years to live.

“This is the most devastating news of our lives. It’s the one we’ve been waiting for all our lives. Our whole family loves it to bits and is still in shock over the news,” Heather said.

Sandhoff’s disease is a rare inherited lipid storage disorder that progressively destroys nerve cells in the brain and spinal cord. It is caused by a deficiency in the enzyme beta-hexosaminidase, which leads to the harmful buildup of certain fats (lipids) in the brain and other organs of the body. It affects one in a million people. There is no known cure.

Content of the article

On January 14, 2022, Heather gave birth to fraternal twins, Viola and Roderick. She is also the mother of three teenagers from a former marriage. Within four months, Heather began to notice certain abnormalities in Viola. Unlike Roderick, she had trouble lifting her head, had trouble sleeping, and always seemed tired. While Heather mentioned these concerns to her family doctor during Viola’s regular checkups, she said she didn’t seem overly concerned, attributing Viola’s fatigue to her lack of sleep.

“I’ve been here before (raising babies) and started noticing things that I didn’t with my other kids,” Heather said.

After seven months, Heather’s gut told her something was wrong. She said even strangers wanting to say hello to Viola in public would comment, “she looks tired.” Heather went back to see her family doctor who this time referred her to a pediatrician in Edmonton to reassure her.

Content of the article

In September, Viola underwent a regular pediatric checkup as well as a blood test and MRI scan. The Kaisers heard nothing for two weeks, which they took as a good sign; then the phone rang on the morning of Tuesday, October 4. On the other end of the line was the pediatrician who told Heather and Jason to come to his office immediately with a “support person”.

“At that moment I realized something was seriously wrong. There were a lot of feelings going through my mind trying to figure out what it could be,” Heather said.

Initially, the Kaisers thought Viola might be autistic or cancerous. When they arrived at the pediatrician’s office to find him waiting with a nurse, Heather said her heart sank more and more. He told them he had “very devastating” news to report which immediately brought both parents to tears.

Content of the article

“I still can’t believe it. I’ve always been a hopeful person, so I didn’t expect to hear what I heard that day,” Heather said.

A few days later, the Kaisers met with a geneticist from Stollery Children’s Hospital in Edmonton who told them about a new gene therapy clinical trial for Sandhoff’s disease being developed at Massachusetts General Hospital in Boston, MA. Heather and Jason were put in touch with a trial representative who told them that Viola sounded like a perfect candidate based on her age.

Although the trial representative could not guarantee Viola a place in the study, she told Heather to enroll her daughter as a patient at Massachusetts General Hospital and begin proactively arranging all the documents required to live temporarily in the United States. If accepted, Heather and Viola should move to Boston for four months. Unfortunately, Heather said she was not given any timeline for Viola’s approval. He was also told that there was a chance the trial would end in the meantime.

Content of the article

“There is always a first for a cure. We don’t know the ups and downs of the trial, but we need every kind of hope possible,” Heather said.

With Heather’s maternity leave ending in January 2023, a GoFundMe campaign was launched by close family friend Rebecca Strass on October 12. The goal is to raise $25,000 as soon as possible, which will allow Heather to stay home with Viola as she continues to sort out the next steps. It will also help fund travel and living expenses for the trial, other treatments and any equipment that Viola may need in the years to come. To date, the campaign has raised $3,540.

Following Viola’s diagnosis, Heather said parents should always trust their instincts and be persistent when they think something is wrong with their child. As the Kaisers have no family history of Sandhoff disease or genetic disorder, neither she nor Jason ever had reason to believe that Viola’s childhood abnormalities could be so severe.

To donate to the family, go to gofundme.com and search for “Viola Needs a Miracle”.

[email protected]

https://twitter.com/rudyhowellrepex