Each year, billions of dollars are spent on medical research and development to better understand and treat various diseases. How much of this money goes to rare diseases? For medical specialists, their patients, and their families facing the daily reality of chronic illness, it certainly doesn’t feel like enough.
Receiving a life-altering and terminal diagnosis only to find out there has been little progress in finding a cure is a devastating reality for many families. Sherine Blackford, mother of 4-year-old Loic, is facing this reality after doctors diagnosed her son with a rare genetic disease called “Pantothenate kinase-associated neurodegeneration,” or PKAN.
Blackford is determined to provide her son and others with this rare disease a fighting chance by raising awareness and funds for gene therapy, a promising treatment option that could potentially save his life. As she navigates the unknown world of rare diseases, Blackford advocates for research and access to innovative treatments.
The Struggle of Rare Diseases
Around 7,000 rare diseases affect 25 to 30 million Americans and 300 million people globally, but disease prevalence and difficult diagnoses limit funding and research. As if diagnoses weren’t enough, one 2019 U.S. Government Accountability Office report estimates rare diseases cost Americans $966 billion due to lengthy medical diagnoses, loss of income, and palliative treatment.
For those affected by these diseases, the struggle can be immense. Many rare diseases have limited treatment options and are not well understood, which can significantly impact the quality of life for both patients and their families. Ultimately, they can be left feeling uncertain and hopeless.
For Loic’s PKAN diagnosis, Sherine was heartbroken to learn what experts typically expect of those with the disease. Instead of accepting defeat, she boldly pushes for more resources, continued research, and access to potential cures by raising the necessary funds.
Loic’s Story
Loic Thomas Blackford was born in Bozeman, Montana, on Oct. 23, 2020. From the very beginning, he charmed everyone around him with his sparkling eyes and magnetic personality. However, significant developmental challenges began to surface as he grew. By the time Loic was 14 months old, his parents had noticed severe delays, including issues with balance, an inability to pull himself up or move around furniture, and a lack of speech or babbling.
Loic underwent extensive evaluations and tests, but no clear answers emerged. Then, on May 25, 2023, Loic’s family received heartbreaking news that he had PKAN.
PKAN affects 1 to 3 children per 1 million globally. PKAN strikes in childhood with devastating severity. For children with PKAN, the muscle spasms and dystonia are relentless, often causing excruciating pain as they feel trapped in bodies that won’t obey. PKAN is, in many ways, like a childhood version of Parkinson’s but far more aggressive and debilitating.
Despite his challenges, Loic continues to shine. Like most 4-year-olds, he is cognitively able to understand conversations and concepts. He has a growing vocabulary but finds it difficult to speak, so he communicates through sign language and an AAC device. His joyful personality remains a light in his family’s life. Yet, the future weighs heavily on his parents. They grapple with the cruel reality of this condition, for which there is no cure. Current treatments offer only palliative care, and promising research remains years away.
The Road to a Cure
Determined not to accept her son’s fate and use her skills as a lawyer, Blackford turned to medical research. She discovered that gene therapy had great potential for treating PKAN and could potentially change her son’s life trajectory.
Early in her journey, Blackford connected with a team of PKAN pioneers at Oregon Health & Science University (OHSU). OHSU had already completed initial proof-of-concept experiments in PKAN mice, laying the groundwork for their collaboration. Blackford then began outreach by sending letters to research institutes to see who might be interested in advancing gene therapy for PKAN and working with her and the OHSU team to find a cure. “I wasn’t hopeful about getting responses,” she admits.
Thanks to her efforts, UMass Chan Medical School expressed interest in partnering with OHSU. Each university has unique expertise to help Loic and others. OHSU’s Dr. Susan Hayflick, a medical geneticist, is a leading expert in PKAN. Dr. Hayflick helped identify the gene affected and has conducted extensive mouse model research necessary ahead of clinical trials. At the University of Massachusetts, the Horae Gene Therapy Center has successfully collaborated in creating gene therapies for other rare genetic neurological disorders.
OHSU’s Allison Gregory, MSC, CGC, says, “Sherine did an amazing job finding a suitable partnership that brings us closer to a cure for PKAN. She also took over fundraising, as this has been our biggest hurdle in making advancements, with a goal of $5 million.” Blackford founded Loving Loic Foundation, a 501(c)(3) organization dedicated to raising the necessary funds.
Paving the Way for Gene Therapy
Blackford’s determination and fundraising efforts pave the way for groundbreaking gene therapy research on PKAN. Through her perseverance and passion, she has brought much-needed attention and funding to this disease.
Blackford says her efforts do not stop at PKAN. She aims to continue raising funds and awareness for other rare diseases, ensuring that families like hers have hope and access to potential treatments. Her resilience and dedication are inspiring and serve as a reminder that one person can make a significant impact in the fight against rare diseases.
The Power of Motherly Love
Blackford’s love for Loic has made her a fierce advocate, not just for him but for other children with PKAN. She tirelessly works toward donations and awareness for the disease, organizing events like golf tournaments, auctions, and galas. Through her efforts and community support, they have raised over $1.65 million so far.
Sherine Blackford inspires many parents facing the challenges of a rare disease diagnosis. Her determination to find a cure for PKAN and raise $5 million for groundbreaking gene therapy research is paving the way for potential treatments not only for her son but also for countless others affected by this devastating condition.
Through their heartbreak, they remain steadfast in their determination, knowing they will find a breakthrough to save Loic and others like him. For now, the family cherishes every moment with him, fully committed to their mission to make a difference.
