Whenever a child in Utah is born with PKU, an inherited (genetic) metabolic disorder where the body cannot process the amino acid phenylalanine, the health department (with the permission of the parents), notifies my friend Amy Oliver so she can step in to help. Phenylalanine or “phe” is found in every type of food, and the higher the protein content, the higher the phe content. If phe is allowed to build up in the body of a person with PKU, it causes irreversible brain damage and results in severe mental retardation. People with untreated PKU are unable to function on their own and end up living in institutions. PKU occurs in about 1 in every 15,000 births.
Understandably, families who hear this diagnosis can be overwhelmed and in need of information and reassurance. That’s where Amy comes in handy. She’s not a geneticist or a public health nurse, but she has some real expertise as a mom with two kids who have PKU. The good news is that if the diagnosis is made early (and in the U.S. it is because of mandatory newborn screening laws since the 1960s) and treatment is started immediately, people with PKU can lead healthy and productive lives. In this sense, it is a disease with a cure, but the cure is pretty labor intensive for the families. The treatment for PKU is lifelong and it requires the person to restrict the amount of phe consumed in his or her diet. This means that people with PKU can never eat legumes, dairy, meat, fish, nuts, and grains. The diet consists of limited amounts of fruits and vegetables, foods specially modified to be low in protein, and a very expensive medical formula that provides protein without the phe. It also requires that every bite of food be weighed or measured as each person with PKU has a maximum amount of phe that they can eat each day. The average person with PKU can eat only the equivalent of 6-7 grams of protein a day. That’s less than the protein in a single string cheese!
I asked Amy about the diagnosis process for her daughter:
I first learned about PKU when my pediatrician’s office called following the birth of my daughter. She was 8 days old and we were informed that she had a “positive” result on her newborn screening test for phe. We were instructed to take her immediately to the local children’s hospital to have a blood test done to confirm the diagnosis. That same day we received a call from the Department of Health informing us that we had been scheduled for a two hour appointment with the genetics team for the next day. To say it was overwhelming is an understatement. The good news is that my daughter has a milder form of PKU, but she still must follow a restricted diet for the rest of her life. After my daughter was diagnosed, I was basically left on my own to figure out how to deal with PKU. Now, the genetics team is great and offered lots of help, but they don’t live with PKU. My daughter was 8 months old before I met a single person with PKU! And I have to say that meeting another PKU family and seeing that their child was doing well and looked like any other child was one of the most reassuring things that could have happened to me. It was so nice to talk to someone who understood what it was like to count each and every cheerio and weigh uneaten, mangled banana.
In addition to being a mom, Amy is a part-time litigator in Salt Lake City. Practically, this means that she has a wide array of skills from being an expert on princess dress-up costumes and Star Wars action figures, to knowing her way around federal bureaucracy and health and charitable donation laws and regulations. She’s also tenacious and tough as nails. (I learned this when we first met as rivals in a French trivia contest in Jr. High—she won—and later as debate partners at Olympus High School.) Amy is committed to making sure that other families receive reassurance and help earlier than she did, and she’s using her varied and admirable skill-set to do it. In 2008, she formed the Intermountain PKU and Allied Disorders Association (IPAD). www.go-ipad.org. It is a 501(c)(3) non-profit organization that provides support and educational events to families living in the Intermountain region. She tells me that “we’ve had a busy three years. We’ve hosted family day at the zoo, an insurance information meeting, a low-protein luncheon at Buca di Beppo, a social event at a basketball game, an afternoon at a dinosaur museum, and our first-ever fundraiser, Putt for PKU! We also provide a ‘PKU Starter Kit’ full of information to every family at the time their child is diagnosed with PKU.”
Speaking of the starter kit, Amy got a call from the health department not long ago regarding a young family, students at BYU, who had just heard a positive PKU diagnosis of their newborn. Amy called the mother, let her know about IPAD, and offered to bring her the starter kit and talk to her about life with PKU. Amy told her to take some time getting to know her baby, and to call Amy when she was ready. “Can you come tomorrow?” the new mom responded. Amy drove down to Provo with a starter kit and found the baby, parents, and both sets of grandparents eagerly waiting for her arrival. As relieved as they were about meeting Amy, talking about the disease, and receiving the educational material, they got their best dose of hope meeting Amy’s secret weapon: bright-eyed, vivacious, talkative, moppet-haired, precocious, four-year-old, PKU positive Claire. I’m not exaggerating when I say she is utterly adorable and shockingly smart. For a family who has heard about the possibility of mental retardation of their new child, this real-world demonstration of the efficacy of treatment and the possibility of normal growth, and this personal connection with other families who are struggling with similar issues, is incredibly important and reassuring.
I asked Amy why she did it. As the mother of two children (and since starting IPAD, she’s added a third, a baby boy who also has PKU), and a part-time lawyer, I don’t think she had a lot of spare time and was just searching around for a hobby. She wanted to help others, and she knew she could do it. But she also honestly told me “I suppose the ‘social work’ analysis is that in a situation where I couldn’t do anything about the fact that my daughter had PKU, I could form an organization and help others. I suspect that this last reason is a primary motivator for most non-profits started in response to a loved one’s health challenges.”
This last idea intrigues me. My job is in the development world. We manage large programs in post-conflict countries to develop basic rule of law and criminal justice systems. (Did I mention that Amy and I also went to law school together…) We are trying to bring about societal change that will benefit every citizen of the country. The type of “heart and soul” charity work that Amy does only affects a very small population of people, but the benefit is profound. Somehow the patchwork of ordinary people with ordinary lives choosing to help a few others in a meaningful way, born out of the honest desire to do nothing but assist those in need, adds up in the aggregate to a profoundly better world, where millions of people are served by their fellow citizens who can. I’m glad to be a citizen of a world with so much targeted charitable work going on. My life is better for it.
Meanwhile, Amy’s IPAD group is chugging along with an active schedule, and she reports higher than anticipated participation.
While I had hoped for some small successes in these areas during the first couple of years, I’m actually amazed at what we’ve been able to accomplish so far. We’ve only been around for three short years and yet we’ve had a real impact in our community. When I started the organization, I had no idea if anyone would ever come to an event we sponsored. Well, we had 150 people at our very first event! That is an amazing number, especially when you consider how few people actually have PKU. And we’ve had consistently high levels of participation since then.
IPAD is working closely with other PKU alliance groups around the country to lobby Congress to require insurance companies to cover the incredibly expensive medical food necessary to treat PKU. Amy also sponsored two cooking classes this year to teach to PKU families how to make tasty low-protein meals at home. Her husband Brian (the only cool kid in my Jr. High GT science class, another high school debate alum, and now a Salt Lake ER doctor) has entered a 25 hour endurance mountain bike race to raise money for IPAD (see details about the race, and information about pledging here www.pkuheroes.org.) As other families hear a PKU diagnosis, there is now a large organization waiting to welcome them and help support their children.
Do you have questions for Amy about PKU or her organization? How have you benefitted from small charitable organizations, or how have you seen them benefit your community? How can we as a blogging or church community encourage more local activism?