I met Kaelan when he was 5 years old. He and my younger brother Grant, started their hockey careers together and later became school mates.
Kaelan is the youngest of three boys – his brothers are Taylor and Alex – having just turned 10 at the end of the year. Kaelan is from a huge Hockey family, with both older brothers playing AAA hockey and then Junior A hockey.
Kaelan was diagnosed June 2014 with Friedreich’s ataxia (FA), a debilitating, degenerative neuro-muscular disorder. Only about one in 50,000 people in the United States have FA. There is currently no cure and no treatment, only symptom management.
What causes Friedreich’s Ataxia? FA is an inherited or single gene disorder. Mutations or DNA changes in the FXN gene cause FA.
FA in inherited in an autosomal recessive manner, meaning that individuals with FA have two mutated or abnormal copies of the FXN gene, this means both biological parents must be a carrier of the disease for a child to be affected. It is estimated that 1 in 100 people are carriers, and carriers do not exhibit symptoms of FA. Each such carrier parent has one mutated gene (allele) and one normal gene (allele) in the FXN gene. Because each child gets one of the mother’s genes and one of the father’s genes in this location, there are four possible combinations of the genes passed down to the child or a 25% chance that the child will have FA.
The FA gene mutation limits the production of a protein called frataxin. Frataxin is known to be an important protein that functions in the mitochondria (the energy producing factories) of the cell. Frataxin helps to move iron and is involved with the formation of iron-sulfur clusters, which are necessary components in the function of the mitochondria and thus energy production. We also know that specific nerve cells (neurons) degenerate in people with FA, and this is directly manifested in the symptoms of the disease.
Kaelan is not fully aware of the progression of FA and the family asks that people respect his innocence.
Kaelan is just like any other 10 year old. Kaelan enjoys Xbox, likes the show The Big Bang Theory, his favourite school subject is gym, and he enjoys anything that can be done or played outdoors: “dirt biking, dune buggying, four-wheeling, motocross, fishing, sports – like dodge ball, soccer, basketball, baseball, hockey,” he says.
The Carlson Family is choosing happiness. “This is what he’s got; nothing’s going to change that,” his mother Kelly says. “He needs to own this” She says that there is always some good that comes from the bad and he’s got to find it.
This platform holds a special place in my heart, as I have gotten to know Kaelan and his family so much. Being a singer/songwriter, and as Miss Teenage Lanark County I have had the opportunity to spread awareness at local community events about this rare genetic disease.
Ultimately, If I am chosen as Miss Teenage Canada 2015, I would like to become a FA Ambassador at a national level where I can work with FARA, Friedrich’s Ataxia Research Alliance, to to find a cure, as well as improve the quality of life for FA survivors.
This process would start with creating a good standing relationship with FARA, (currently located in Philadelphia); aligning Fundraising campaigns nationally in Canada to FARA’s current events and utilizing the many Social Media Platforms to spread awareness.
One of the biggest problems the FA families are faced with is the fact that it’s so rare. This national platform will allow me to share Kaelan’ story and message of Choosing happiness to all the families affected by this disease and ultimately help raise the money needed to find a cure.
Choosing Happiness has become the basis for a book Kaelan and Kelly wrote together after his diagnosis and are working on a plan to publish it over the next year; it’s not about Friedreich’s ataxia but about a person’s attitude towards life.
Felcia DeRosa is the fundraising and communications program director at the Friedreich’s Ataxia Research Alliance (FARA), a non-profit charitable organization in the United States that helps fund and provide support for research, drug development, clinical trials and scientific conferences related to FA.
The Carlsons are just one of many families from around the world registered with the U.S.-based organization, fundraising monies to channel into research.
“Our scientists feel like this is a solvable problem,” said DeRosa. “We don’t have an approved treatment trial right now but hope to in the next few years.”
The goal is to find treatments that help slow, stop and then hopefully reverse the disease, she said.
The Carlsons’ hope that by sharing their story, they will help change the lives of others with Friedreich’s ataxia by raising awareness about the disease, which will hopefully lead to more funds for research and eventually, a cure.
Because of him, we’ll find a cure one day for everybody.”
Kaelan Carlson is choosing happiness.