The Morning Blend


Disease With A Restrictive Diet - Where Now New Hope

Posted at 12:00 PM, Dec 16, 2021
and last updated 2021-12-16 12:00:24-05

More than 400,000 people around the world live with PKU[i], a genetic condition that manifests at birth and is marked by an inability to break down Phe (“fee”), an amino acid that is commonly found in many foods. If PKU is left untreated, high levels of Phe become toxic to the brain and may lead to serious neurological and neuropsychological issues, including brain damage, seizures and depression. People with PKU are advised to maintain lifelong control of their Phe levels and follow a diet containing almost no protein to minimize symptoms and prevent damage to the brain.

Hunter, a 35-year-old mother of two, was diagnosed with PKU at just a few days old. Growing up, she struggled with feeling like the odd one out due to her PKU and having to eat different foods than her friends.

At the suggestion of her care team, Hunter joined a clinical study testing a new treatment for PKU. Hunter can talk about her own experience of Phe lowering while on this treatment that was eventually FDA-approved. She had a new option for treating her disease and with it came new experiences, challenges, and opportunities.

Since then, she has been able to enjoy having more options when going out to eat in restaurants and feeling more energized.

Today, Hunter enjoys a rewarding career as a dietician in the NICU at a Boston-area hospital. She tells others with PKU who might be struggling to stick with it, even if they’re feeling challenged, and to consider going back to a clinic if they’ve gone off diet and are experiencing brain fog or anxiety.

Managing PKU can be easier with a little help and guidance, and every person’s experience is different. PKU clinics can help individuals set a treatment plan and learn about treatment options that may be available to them. Hunter and others also encourage those with the condition to lean on their support team – whether it’s family, friends or neighbors – and take it one day at a time.