The Liv-A-Little Foundation is in the midst of their Paint the Town Purple campaign in support of the Cystinosis research. The campaign runs until the end of August. 

Hub Staff

Saugeen Shores stands out along the Lake Huron shoreline communities with a mysterious purple hue this month, thanks to the Little family of Port Elgin. In July of 2011, Olivia Little was diagnosed with Cystinosis, a rare metabolic disease affecting only 2,000 individuals worldwide. Patients with Cystinosis are unable to release the buildup of the amino acid, cystine, in their cells which eventually leads to organ failure. Purple is Olivia’s favourite colour and has become symbolic of the Liv-a-Little Foundation, a not-for-profit organization founded by Erin and Chad Little, Olivia’s parents, with a mission to find a cure for Cystinosis.

The Liv-a-Little Foundation has organized countless fundraisers since its inception in 2013. Their biggest event, the Swing, Shoot & Liv Golf Classic is entering its seventh year and to date has raised over $600,000.

The Littles were introduced to the Cystinosis Research Foundation (CRF) in 2012, where they were surrounded by optimism and fellow warriors in the battle against this debilitating disease. At the CRF Day of Hope Conference in California, the Little family met Dr Stéphanie Cherqui who has devoted her work to discovering a cure for Cystinosis and other multi-systematic genetic disorders through stem cell and gene therapy.

After seven years of dedicated fundraising and unwavering faith, the Liv-a-Little Facebook page posted an announcement in January of 2019 from the CRF confirming the FDA approval for human clinical trials for stem cell and gene therapy treatment for Cystinosis. The post was accompanied by a simple comment from Erin Little, “This is EVERYTHING!!!!!”

On June 20, 2019 the California Institute for Regenerative Medicine (CIRM) approved a grant of almost $12 million for Cherqui to carry out a clinical trial on a gene therapy treatment for Cystinosis at the University of California, San Diego (UCSD).

In a July 28 interview, Erin Little elaborated on the clinical study and what this means to her family.

The study officially opened this month, seeking applicants who are 18 years or older with Cystinosis. They’re looking for two participants to start but may include up to six, explained Little. Once individuals are approved for the trial they will need to first cease their Cysteamine eye drops which are used to deplete the buildup of cystine crystals on the cornea. The crystal buildup in the eyes will be used as a marker for the study, said Little, to confirm if the treatment is working or not. After two months without the eye drops, the patients will go through chemotherapy before undergoing ex-vivo gene therapy in a patient’s own blood stem cells to genetically modify the mutated gene CTNS, the gene responsible for Cystinosis. The stem cells will be reintroduced into the patient with the now functioning CTNS gene and will then work to reduce the cystine buildup throughout the body’s tissues.

“The benefit of using the patient’s own cells,” noted Little, “is that the body won’t reject the treatment."

Another positive aspect to the study is that it presents minimal risk to the patient. “The biggest risk of the study,” Little stated, “is that they’ll get Cystinosis.”

With the limited amount of research funding, the presentation of this grant added an extra bit of confidence to the clinical trials to be led by Cherqui and her lab. “They’re not handing out much funding these days for medical research,” said Little. “The grant is a good sign.”

When asked if this recent milestone will alter their fundraising goals, Little replied, “We’ll fundraise until we have the answer." Although Little is confident in a promising outcome of the study she said, “We’re not going to stop until it’s final.”

The clinical trial will reach completion in four years. Little mused about the possibility of Olivia being released from the clutches of Cystinosis when she turns 14. Although much of the Town of Saugeen Shores and the Cystinosis community are well aware of the impacts this disease has had on Olivia and the devastating risks if a cure is not found, Olivia will tell you she’s a healthy kid. From the beginning, Erin has stood by her decision to not allow her daughter to be defined by her disease. Olivia has grown to be a confident, compassionate 9-year-old whose own curiosity will soon discover the truth.

The 2019 Swing, Shoot & Liv Golf Classic will take place on September 14 at the Saugeen Golf Club in Port Elgin. This year, the Littles will be inviting other local not-for-profit groups on to the green who are helping to enhance the community such as the Interact Club, the Bruce County Playhouse and Jumpstart. Little expressed how fortunate they are to have such a loyal support system that has made the tournament a successful event year after year. She views this as a way to help others benefit from the Foundation they’ve worked hard to build.

Anyone interested in participating in this year’s Swing, Shoot & Liv Golf Classic, visit livalittlefoundation.com/golf.