While Sarah Chamberlin napped with her newborn baby daughter Isabel in August 2013, it felt easy to ignore a ringing phone. A mother with a daughter in preschool, Chamberlin was relieved at the opportunity for rest. Her apparently healthy baby was just 5 days old. Chamberlin remembers being happy but exhausted.
A few minutes later, her husband called to say that the hospital had called and that Isabel had tested positive for phenylketonuria (PKU).
The “routine” newborn heel prick had turned up results that were anything but.
Today is Rare Disease Day. Among these diseases is phenylketonuria or PKU, a genetic metabolic disorder which prevents those affected from properly digesting phenylalanine (phe), one of the amino acids in protein. A baby with PKU (1 in 15,000 births per year) 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.
This story is that of a mother’s determination to help her child – and in so doing, help others. A web developer, Chamberlin created HowMuchPhe.org — an app to aid in PKU dietary management. Because those with PKU must limit protein intake, often to only a few grams per day, knowing how much protein is in a food and keeping track of what’s eaten is essential.
HowMuchPhe.org launched in July 2014. It allows users to look up phe and protein values in food and calculate intake. Users can record foods, export data to share with their dieticians, and record their frequent blood test results to keep track of their progress. Each time a blood test comes back, a dietician may adjust protein intake to keep levels within the preferred range. PKU patients consume a phe-free medical formula that provides the remainder of their required protein.
When HowMuchPhe.org launched at the National PKU Alliance (npkua.org) national conference, Chamberlin told the audience that she had a lot of anxiety and a real sense that she’d lost control. She said that HowMuchPhe.org was her way of regaining some control.
In recalling the early difficult days, Chamberlin remembers being overwhelmed. Although she was assured that PKU could be managed through strict adherence to a low protein diet, she remained worried. Says Chamberlin:
“During the initial visit to Mt. Sinai, they told us there were support groups and lots of wonderful people who would help us get used to and manage the diagnosis. I remember when we were driving home, I said to my husband, ‘I’m sure all the people in the support groups are lovely. But I don’t want to meet any of them,’ meaning I didn’t want to have to meet any of them. Over the next several days I cried a lot, mourning what I’d hoped would be a carefree life for my daughter.”
Chamberlin spent the months that followed Isabel’s diagnosis understanding the strict dietary restrictions managing PKU would entail. As she came to understand PKU better, she became less fearful. As she became more educated, she felt more empowered.
Chamberlin discovered the seminal work of nutritionist Virginia Schuett of National PKU News, who literally wrote the book on managing PKU: The Low Protein Food List for PKU.
Chamberlin worked with Schuett and PKU News board member Jeb Haber to develop HowMuchPhe.org.
Chamberlin has learned to navigate a restrictive diet with a toddler:
“We weigh all of Izzy’s food to the gram, and I carry a tiny scale in my purse for when we’re out and about. Perhaps because it’s all she knows, Izzy is very patient. Even before she was verbal, she’d point to a food to ask whether she was allowed to have it, and wait for us to weigh it and give it to her. We established a special shelf for Izzy’s ‘free foods’ — foods that are very low in phe or free-phe — that she can help herself to at any time. Lucky for all of us, french fries are relatively low-phe, and available everywhere. Marshmallows, known as ‘mar-mars,’ are also another favorite.”
Isabel’s future is bright. Says Chamberlin:
“PKU is very manageable, and I don’t think Isabel will be limited by it at all. We, and she, will find ways around any barriers that PKU presents. In general we’ve just adjusted to a ‘new normal’ which is really, particularly compared with what others go through, not difficult to live with.”