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Positivity and Pragmatism

  • Mark and Melissa Perez have two children, Clara (age 9) and Mayer (age 6), and a brilliantly realistic yet hopeful and positive outlook on newborn screening (NBS) and all that NBS conditions entail:

    I interviewed Melissa Perez as she prepared lunch and iced drinks for her kids and answered Mayer’s questions about the Weather Channel and the continuing rainstorm. Perez commented on how she loves summer days, getting up late and going to bed relaxed—days that will soon be interrupted by the always-exciting first day of a new school year.

    By all measures, there is nothing too out of the ordinary about the Perez family—with one exception: their son Mayer has PKU. For the first week of Mayer’s life, his parents had no reason to suspect that their son had a metabolic disorder. At six days old, however, Mayer was diagnosed with Classic PKU through Florida’s newborn screening program.

    At the time, Mark and Melissa Perez —who now begin each day preparing medical formula for Mayer along with a fresh pot of coffee for themselves—had little to no familiarity with the condition. “I think I’d read a blip about newborn screening when I was pregnant with Clara, but honestly when you’re in labor, it’s the last thing you’re going to be thinking about. I’m not even sure I knew a newborn screening was conducted on him,” Perez said.

    Not having newborn screening on their radar, the family was taken aback when a call came from Shands at the University of Florida with the screening results. “I repeatedly asked the genetic counselor who she was, why she was calling, and how to spell ‘phenylketonuria,’” Perez said. “After the initial shock, we went down to Shands, where everyone—the counselor, the metabolic geneticist, the dietitian—was wonderful, comforting and helpful.”

    The team at Shands helped Perez continue to nurse until Mayer self-weaned when he was a year old. “A lot of moms with PKU kids are scared to nurse because it’s hard to measure phenylalanine levels in breast milk and easier to feed them perfectly measured formula. But we worked with our dietitian and constantly monitored Mayer’s levels,” she said.

    The same dietitian has stayed with the family through the years, helping them adjust to Mayer’s tricky dietary needs. “I’m constantly thinking about what I’m going to feed him next—constantly thinking about making low protein bread and ordering modified rice,” Perez said. “At birthday parties and Christmas celebrations, my goal is always to make something PKU compatible that looks like the original food.”

    Although their son’s condition forces the Perezes to cook from scratch more and buy processed food less often than the average household, they strive to maintain a sense of normalcy in Mayer’s life. “We do not treat our son differently than we treat our daughter—we have the same levels of expectation for both and let each experience successes and failures,” Perez said, though she admitted it is hard not to coddle her youngest.

    Additionally, the couple, focusing on “healthy choices, not deprivation,” forgoes negative statements in favor of factual yet positives one. They opt for labeling foods ‘low in protein’ or ‘high in protein’ instead of ‘not regular’ or ‘regular.’ Instead of saying to Mayer, “No, no—you can’t have that,” they say, “That’s not healthy for you.” And Mayer has caught on to this strategy like a champ, refusing certain foods with the rationale, “I have PKU; that food isn’t healthy for my body.”

    From time to time, Perez will sit Mayer down for fun, interactive lessons and games on measuring phenylalanine in food. Six years into the journey, she has found a marvelous support network of moms from all over the country, each with unique talents to bring to the table on how to best care for PKU children. Through them, she has been introduced to Cook for Love and Cambrooke Foods—reliable resources for a PKU diet.

    Though the Perezes are bravely and successfully navigating their way through life with PKU, Melissa Perez acknowledges that there can be a dark and taxing side to the condition—one that she is determined to avoid. For starters, the PKU diet is expensive—costing affected families roughly $7,000-$8,000 more annually than unaffected families. A seventeen-ounce bag of modified rice for Mayer costs $9.99, whereas a 2-pound bag of rice from a neighborhood grocery store costs just a little over $2. And then there are even more expensive ingredients, such as wheat starch and tapioca starch.

    Due to the costly nature of this diet and its inconvenience, Perez paints a stark, true reality for a large number of PKU patients. “Many do not conform with the diet and just try to eat vegetarian, especially if their parents do not have the money or after they are too old to be covered by their parents’ insurance,” Perez said. “This turns into a vicious cycle as these individuals start to deteriorate cognitively when they do not eat right. This makes it difficult for them to hold down jobs, possibly leading to anxiety and depression—which is oftentimes treated by prescription drugs leading to addictions.”

    So, to play a part in breaking this cycle, Perez advocates. She advocates for her son at the start of every school year, to make sure his teachers are aware of his condition but also aware that they need to treat him as impartially as possible.  She advocates on a statewide stage, rallying hundreds to send emails with the simple message of “save babies for less than a million dollars” to the Florida legislature that wanted to cut funding for genetic testing centers. And she advocates on a national stage, flying to DC to speak on behalf of the Medical Foods Equity Act, which would help families deal with the cost of the special PKU diet (because, as Perez puts it, “Medical formula is an essential to someone with a metabolic condition as insulin is to a diabetic”).

    Passionate about the cause and contagiously optimistic, Perez continues to work toward awareness of newborn screening in general and PKU in specific. Her perspective is one of positivity plus adjustment and pragmatism:

    “Right after Mayer’s birth, it was easy for me to get ahead of myself and start worrying about the ‘what ifs’—and sometimes I still do,” Perez said. “But I realized that instead of thinking about what in the world we’d serve at Mayer’s wedding reception many years from now, right then, he needed to be breastfed, and that was what I was going to focus on. We’re taking it one day at a time.” 

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