Rare Disease Day 2020 is recognized on the “rarest” day of the year - February 29th.
This is the 13th year that Rare Disease Day has been observed globally, and its mission continues to focus on awareness-building activities. As this is the first Rare Disease Day since initiating our pheNIX gene therapy clinical trial for phenylketonuria (PKU), Homology focused its awareness-building activities on better understanding the challenges patients and families living with PKU face with the highly restrictive, low-protein diet. PKU is an inborn error of metabolism in which phenylalanine (Phe), an amino acid obtained exclusively from diet, cannot be metabolized. People with the severest and most common form of PKU, called classical PKU, must adhere to an onerous low-protein diet to prevent toxic accumulation of Phe, which can lead to progressive and severe neurological impairment.
Leading up to Rare Disease Day, Homology employees participated in a “Low-Protein Challenge.” Employees chose a day to eat and prepare food in line with the restrictive classical PKU diet. Employees shared their honest experiences during the challenge, inspiring one another to discuss what it must be like living with PKU.
“A diet is never fun, but this diet, even just for a day, was the most restrictive and difficult one I could imagine,” stated Cara Mayfield, Sr. Director, Patient Advocacy and Corporate Communications.
Other common themes that employees shared from the Low-Protein Challenge included:
- Failed on their first try
- Felt tired and hungry
- Requires advanced planning and meal preparation
- Nearly impossible to eat out at a restaurant
Homology also recognized Rare Disease Day by organizing a “Low-Protein Potluck.” A common theme we hear from people living with PKU is that food-based social events and celebrations are particularly challenging. Homology employees showed their support by sharing a low-protein dish, and Homology will make a donation to an effort that helps PKU patients access medical food and formula.
These challenges helped remind us of the heroic efforts it takes patients and families to manage a strict PKU diet. On Rare Disease Day, and every day, Homology is dedicated to our mission to cure genetic diseases, including PKU.