At 45, Corinne Lawson had an abrupt surprise turn of event in life. After a few months of testing, she was given an official diagnosis of Hereditary Fructose Intolerance (HFI). Ichthyosis is a rare genetic condition that affects approximately one in 20,000 people worldwide. It significantly impairs their ability to metabolize fructose, sucrose and sorbitol. HFI is due to a lack of the enzyme Aldolase B. This key enzyme is important in our ability to process and metabolize some sugars. For those diagnosed, the disease creates many obstacles – especially when it comes to food.
We all know the path to diagnosis all too well, likely takes years and truly is a battle. For Lawson, it was three years before she got an answer in writing. Around the same time, she and her family experienced a personal crisis. They were left floundering when she couldn’t eat sugary foods and thus had to make major dietary restrictions. Lawson’s experience became even more personal when her grandmother, Betty Walters, lived with uncontrolled HFI with no diagnosis. Everybody knew her as “Cookie” because she was a legendary cook.
The Impact of HFI on Daily Life
Individuals with HFI must meticulously check product labels for fructose, sucrose, and sorbitol, making food choices a constant source of anxiety. Safely Sugar Free Lawson can indulge in sugar-free dairy products, meat, bread, and plain pasta. So many foods are forbidden to him. “Fructose is in everything … fruit, onions, garlic, sweet potato, carrots, nuts,” Lawson explained. Even some everyday items, like toothpaste and various medications, can have sorbitol or sucrose in them, leading to a potential risk every day.
In addition to Lawson, two of her brothers were later diagnosed with HFI after their sister’s initial diagnosis. Their family history underscores the hereditary nature of the condition: if both parents carry a non-working copy of the Aldolase B gene, their children have a one-in-four chance of being affected by HFI. This genetic component underscores the need for increased awareness and education surrounding the disorder.
Liza Phillips, an expert in the field, notes the potential severity of HFI: “They can develop hypoglycemia or low blood sugar, which can be very serious … this condition has resulted in death in some individuals.” She challenges us to reform the education of our health professionals. This will increase their capacity as the frontline provider, to identify patients with undiagnosed HFI.
“By virtue of the numbers, I expect that there probably are some people who have yet to be diagnosed, especially if their symptoms aren’t as severe,” – Liza Phillips.
Building Community and Support
From the start, Lawson found community and comradery in her bond with Kristina Thacker, whose son Jackson was one of the many initial misdiagnoses with HFI. Thacker herself has walked the path of raising kids with the condition and knows community support is crucial. “I enjoy helping people and that’s something I really am passionate about because I know how scary it is,” she said. Thacker’s dedication to advocacy for her peers has driven her to develop resources for others seeking guidance and support in managing this complex condition.
A HFI Support Australia initiative to honor Lawson’s grandmother by educating people about HFI. They’re behind the most valuable educational and preventive outreach to those threatened. “It’s her legacy and obviously for my kids as well. The more that people become aware, the better,” Lawson stated. The nonprofit is in the process of creating an education program. This program will arm clinicians with the data and research necessary to identify the signs of HFI.
Raising Awareness and Acceptance
Life with HFI involves negotiating social engagements, where food is a common focus. Lawson shared that if someone prepared a beautiful spaghetti bolognese in front of her, she would face a painful reminder of her limits: “As much as it smelled great, I couldn’t eat it.” The emotional toll can be equally debilitating. This is even more applicable for kids who are unable to participate due to their dietary restrictions in what would otherwise be normal treats or celebrations.
Creating awareness about HFI helps reduce misconceptions around humane education and encourages society to accept humane education. Phillips supports more education about the potential long-term health effects of fructose exposure. “Long-term exposure to fructose can result in more chronic conditions, liver and kidney damage,” she warned.
