When a young fan approached internationally renowned soccer Luis Suarez in the Spring of 2016, Suarez hardly could have known how much he’d contribute to this awareness. In promising to kick a goal and and dedicate it to the young girl with PKU, Suarez introduced tens of thousands of his fans to this oft-misunderstood genetic condition.
Phenylketonuria or PKU is a genetic metabolic disorder (1 in 15,000 births) which prevents those affected from properly digesting phenylalanine (phe), one of the amino acids in protein. If a baby born with PKU goes untreated, their body will turn phe into a dangerous neurotoxin, causing irreversible brain damage. Prior to 1968, when the test was developed, people with PKU often became severely disabled, requiring institutional care. Today, thanks to early detection via the newborn heel prick test, and comprehensive management through diet, people with PKU can live complete, fulfilling lives.
In proclaiming, “Yo Apoyo PKU,” or “I support PKU,” in ink across his yellow jersey, the Barcelona striker joined forces with those who live with PKU everyday. Living with PKU means limiting protein intake–often to only a few grams per day–drinking a medical formula to provide safe protein and nutrients the rest of us get from food, and keeping close track of everything eaten in a day. This is a diet for life; teens and adults who go off diet risk intellectual and physical health.
Living with PKU has never been more manageable. There are special low-protein foods and online communities to provide support. These advances remind us of the need to never stop asking. To continue searching. To never take no for an answer. But there are still barriers to good care: medical formula and low-protein food — which can cost 3-5 times regular food — are poorly covered by insurance, and society increasingly understands food allergies and gluten-free diets, PKU restrictions are in an expensive class by themselves – with serious consequences if one is unable to comply.
The many faces of PKU tell one extraordinary story – one of adaptation, and the power of the application of medical knowledge.
Each year, National PKU News provides scholarships to young adults living with PKU. The recipients of these scholarships have risen to the challenge of PKU management. Their predecessors could have been institutionalized – these young adults are instead college-bound.
In the words of Sydney Barba, awarded a 2016 scholarship:
“For many years I hated the fact that I was different. For me it felt like I was different in an aspect that was universal – food. Everyone eats, and eating is associated with socializing. It bothered me that my friends could order pizza and watch a movie and I had to weigh my 100 g of carrots to snack on. Recently my attitude toward PKU changed. Instead of looking at it as a curse, I realized having PKU is a blessing. Thanks to PKU I have known for many years what I want to do with my life. I want to become a geneticist and work with thousands of children with genetic disorders.”
My daughter Isabel has PKU, and I developed an online diet management system, HowMuchPhe.org, to help those with PKU. PKU is very manageable. We’ve just adjusted to a ‘new normal’ which is really, particularly compared with what others go through, not difficult to live with.
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