Family raising awareness about rare disease

By Alejandra Pulido-Guzman on May 21, 2022.

LETHBRIDGE HERALDapulido@lethbridgeherald.com

A Coalhurst family is raising awareness about a rare disease that affects about 1 in 100,000 – 200,000 children a year and is trying to make May 23 its official awareness day.
Two-year-old Harrison Blake was diagnosed on Dec. 10, 2021 with GM1 Gangliosidosis, a rare disease that is passed on genetically by each parent having a gene that carries the disease.
Monday will be the first ever international GM1 Gangliosidosis Awareness Day and Iowa, Colorado, Arizona, and Michigan have already officially proclaimed May 23 and Harrison’s mother is trying to get Alberta do the same.
“When I reached out to the Cure GM1 Foundatiown to connect with families in Canada for support and to have more advocacy, I was surprised to learn that at this time, Harrison is the only child alive in Canada connected to the Cure GM1 Foundation,” said his mother Brittany Blake.
Blake said the way the disease present itself is by developmental regressions, mobility deterioration, seizures, visual impairments and essentially just neuro-degeneration until death.
She explained that the disease is classified into three types, the first type is called infantile which is diagnosed really early and it is the most severe type with a life expectancy between 18 months to two years old. Type 2 is split into 2A and 2B.
“Harrison is type 2A which means we saw his regression start at about one years old and he has a life expectancy right now of roughly mid to late childhood so about 5 to 10 years,” said Blake.
Harrison turned two years old on May 19, 2022.
“From the time he was born until one years old he was seemingly a normal baby, meeting most of his milestones, happy, healthy, our first kid so we were thrilled,” said Blake.
She said her husband Ken and herself were really excited to be new parents, but one day they noticed he stopped meeting his developmental milestones.  
“He hadn’t really started feeding himself, he had rolled over once or twice and then kind of just stopped rolling over. He was learning to stand a little bit but was standing in a kind of really strange position like it was really hard for him to do on his own and he wasn’t pulling himself up to furniture,” said Blake.
She said he was not crawling or moving around and that is when they became concerned.
“I took him to the doctor, started a bunch of different tests so they thought he might have had a whole bunch of different types of disorders and things but we couldn’t really pinpoint it,”
She said at that point she was pregnant with her second child so they decided to go ahead with genetic testing.
“Fast forward to December, I gave birth to Greyson on Dec. 6, 2021 and on Dec. 10 we got Harrison’s diagnosis, so we were devastated. I had a four-day old baby and we were just adjusting to being parents of two kids and we learned that our first son has a terminal illness,” said Blake.
She said Greyson was tested and he does not have the disease, but they learned that he is a carrier of the defective gene. Greyson was born with a condition called Craniosynostosis that he will need head surgery for in the summer/fall.
“We’ve got a lot on our plate,” said Blake.
She said in March 2022 Harrison was selected to go to Toronto to do some pretesting to see if he would qualify for a genetic trial, because right now for GM1 there is no effective treatment but unfortunately he did not qualify.
“That was really tough, they’re still in the trial phase so there’s no guarantee that it would have done anything, but with this being such a rare disease we really wanted to participate in the trials to get Harrison a fighting chance and to help progress the search for treatment or cure,” said Blake.
She said so far Harrison is not medically compromised, his organs are still functioning but she has to do everything for him as he has no muscle tone so he cannot sit or speak and his food has to be purée.
“He lost his ability to talk. He was just starting at one years old to say a few words and those are gone now and yeah he’s just developmentally affected so far so we’re ‘lucky’ but eventually we will start to see things deteriorate,” said Blake.
She said the fact that there is not much awareness of the disease makes it hard to search for a cure and that is why her family is advocating for May 23 to be recognized as GM1 Awareness Day.
So far, a foundation in the United States called the Cure GM1 Foundation has created a social media package for the day of recognition for people to participate by changing their profile pictures and other social media related activities.
“People can make donations, there’s an app called Charity Miles where people can walk to raise funds for GM1 and basically right now the goal of it is to just bring awareness to the disease itself and as it becomes more internationally and worldwide recognized there will be events that will take place down the line,” said Blake.
She is also hoping to get some help with medical expenses for her two children as their appointments take place at the children’s hospital in Calgary and they live in Coalhurst and for that she has created a Go Fund Me page and she has been sharing Harrison’s journey on Facebook.
For more information visit the following links.
https://curegm1.org/about-gm1-gangliosidosis/
https://curegm1.org/downloads—international-gm1-gangliosidosis-awareness-day/
Harrison’s Go Fund Me page 
https://gofund.me/949a4c35
Harrison’s Heroes – Facebook page 
https://www.facebook.com/groups/346825593600244/?ref=sharehttps://www.facebook.com/groups/346825593600244/?ref=share&exp=7ffb

Follow @APulidoHerald on Twitter

4
-3

Comments are closed.