Tia’s Story
When Tia was diagnosed with phenylketonuria (PKU) as a baby, her parents did not know anything about the rare genetic disease. They were upset and worried about their daughter’s future. Fast forward 20 years, Tia is thriving as a student at the University of North Carolina at Chapel Hill, where she studies political science.
Someone with PKU has a variant in the PAH gene that prevents the body from metabolizing, or breaking down, phenylalanine (Phe). Phe is an amino acid found in dietary protein and some artificial sweeteners. When Phe builds up in the brain, it can be toxic, leading to significant neurocognitive impairment. People with PKU must adhere to a low-Phe diet, which is very difficult to maintain.
Like others with PKU, Tia had to navigate some of the social challenges of living with a rare disease. She recalls starting a new school and classmates labeling her as the “girl with PKU” after looking her up on the Internet. She remembers Googling herself and seeing that the only results associated her name with PKU. At that moment, she made a commitment to not let PKU define her.
While Tia understands there is an important neurocognitive component of PKU, she is discouraged by PKU being referred to as a disease that affects the brain because she believes it puts her at an automatic disadvantage when someone learns she has PKU. Throughout her life, Tia has worked hard to overcome this perceived disadvantage by adhering to a strict low-protein diet to protect her brain. Tia mentioned that veering off diet even a little can result in episodes of confusion, mind fogginess and intense migraines, which can last several days. Tia says, “When people say PKU is a cognitive disability, it is not my case at all because I take care of myself. For me, high protein levels mean lower grades.”
Tia is fortunate to have supportive friends and family who have become educated on the disease and even advocate for the PKU community. She is also grateful that her family can afford medical foods and special Phe-free formulas, which are needed for her body to develop and function properly. Unfortunately, she has learned this is not the case for everyone.
Tia has kept a pulse on the PKU community by attending patient advocacy events or through social media. As a young girl, she recalls meeting a child whose parents cooked them a meal containing protein because they were uneducated about the disease. She also heard “horror stories” of people’s friends encouraging them to go off-diet. Tia has and will continue to tell others, “You need to find people who accept you and PKU.”
Tia sees how expensive her formula, medical foods and medicine are. She also knows how difficult insurance coverage can be in some states and situations. She understands that some people struggle to afford treatment or do not live in close proximity to clinics. As a PKU advocate, she is trying to shed light on the impact of these economic disparities as well as other issues.
For instance, Tia believes quicker return times for blood Phe levels are needed. A person with PKU is advised to have regular blood tests to measure Phe build-up in the blood. The results provide important information that can affect diet and medications. For example, when Tia began a medication designed to lower her blood Phe levels, a delay in getting her blood work back meant she didn’t know she was eating too little protein and she experienced hair loss as a result.
Tia described her hair falling out as a really difficult time but was glad she could warn others about her experience. She is also happy she has been able to adjust her diet, and her hair has grown back.
Tia is proud of where she is in life. She attributes this to her commitment to not let PKU define her and the support of her family and friends. She continues to be an advocate for herself and others.