From Screening To Storytelling: One Mom’s Advocacy Journey

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GENETIC ALLIANCE BY AMELIA MULFORD

In a distant jungle, Max the monkey swings from vine to vine with his pals Minnie and Mo in search
of a lagoon to take a swim. He quickly realizes that he is falling behind his friends and feeling sluggish.

As Max discovers, he has medium chain acyl-CoA dehydrogenase deficiency, or MCADD. MCADD, as explained in the children’s book Max the Monkey Has MCADD, is a rare genetic metabolic disease in which the body is unable to properly convert fats into energy after expending its sugar supply. Without the necessary enzyme that breaks down fats, Max’s energy stores are quickly used up to the point of exhaustion.

Max the Monkey Has MCADD is the product of collaboration between Joanna Helm and Laurie Bernstein, dieticians at Children’s Hospital Colorado metabolic clinic, and Kay Kelly, mother to two boys, one of whom has MCADD. Kay’s son was first identified through Colorado’s newborn screening program when he was only three days old. The screen flagged his enzyme levels as abnormal, which prompted his physician to spring into action.

As for many families impacted by congenital conditions, the news that something was wrong with her seemingly healthy child came out of the blue for Kay. She vividly recalls the phone call that rattled her homecoming bliss. She and her newborn had just been discharged from the hospital and they were enjoying celebratory cake and ice cream at home with many excited family members, when her husband excused himself to take a call. Kay remembers her anxiety surged after hearing her husband ask, “Will he be able to live a normal, healthy life?”

A long-time writer and frequent diarist, Kay took to her keyboard to document this earth-shaking news on her personal blog. That initial entry soon spurred a spinoff blog centered on her experience as parent to a child with special health needs, fittingly titled MCADD for Moms (mcaddformoms.blogspot.com). As Kay learned more about MCADD and what the diagnosis meant for her family, she recorded findings, lessons learned, and the feelings that arose with each new twist and turn. She quickly discovered that despite the initial shock that the diagnosis evoked, MCADD was not something to cower in fear from – especially when armed with knowledge and a first-rate care team.

“Before they started screening for disorders like MCADD as part of the newborn screening program,” she wrote shortly after her son’s diagnosis, “kids would die from this disorder. Not our son. He is going to be fine because everyone knows how his body works differently and can factor that knowledge into his care.”

It was through these initial encounters with her son’s pediatrician and metabolic specialists that Kay first came into contact with the lifesaving potential of newborn screening and its expansive reach that touches nearly all four million babies born in the United States each year. She learned that of these babies, more than 1 in 300 come into the world with a serious but treatable condition detectable through newborn screening. This screening is a routine part of neonatal care that takes place 24 to 48 hours after birth. It involves a heel stick to collect a small blood sample, a hearing test, and pulse-oximetry to measure the amount of oxygen in the baby’s blood. And, while newborn screening programs are operated independently by each state’s health department, they receive recommendations from the federal level by way of the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC).

Fueled by appreciation for the screen that saved her son’s life, Kay pursued ways to become more involved. She applied and was selected for the 2013 cohort of the Consumer Task Force on Newborn Screening with Baby’s First Test, which prepares participants to become effective advocates in their communities. Kay’s year on the Consumer Task Force afforded her more than just the opportunity to develop a newborn screening project: it introduced her for the first time to fellow parents of kids with rare disorders, several of whom were already active members of the newborn screening community.

For Kay, her motivation to bring Max the Monkey to life stemmed from a combination of typical toddler picky eating and a lack of the vocabulary to discuss MCADD in a way that would be accessible to her young sons. It was important to her that her affected son understand why he needed to eat and be able to articulate those needs when he wasn’t with her or her husband. She had trouble enough explaining the complexities of MCADD to other adults, let alone to a two-year-old.

“As parents, we’re used to having a book to explain things,” Kay notes. “There are dozens of books telling kids about moving from a crib to a bed or learning how to use the potty.” However, there wasn’t yet a single kid-friendly book about MCADD, so Kay set out to create one.

Kay says that when crafting the plot of Max the Monkey, she drew inspiration from family walks to the park, where her son with MCADD would lag behind his older brother. In the book, Max is too tired to swim with his friends after his long journey through the jungle, so he stops to rest by a tree. A wise elephant approaches Max and tells him that he needs to eat at frequent, regular intervals to sustain his energy throughout the day. Like Kay’s son, Max wears a medical alert bracelet. These parallels helped drive home the message to Kay’s son that he and Max are alike: they both have MCADD. As a result, both face unique needs requiring mindful management, but not worry.

That realization – “I have MCADD, just like Max” – was evident in her son’s behavior. Kay says that by reading the story of Max with her son, he has learned to own his condition and express those concepts that once lacked defined language. She remembers the rewarding moment when her son first told his pediatrician that he had MCADD; he had a sore throat and needed his throat to stop hurting so he could eat. In addition, Kay’s older son understands why his younger brother gets bedtime snacks every night and special treatment when he’s not feeling well. In clear cut terms, his brother has MCADD and he doesn’t. Simple as that.

“In retrospect, it seems silly that we didn’t have those words and didn’t think to use those words until we went through the process of writing this book,” says Kay. “He has MCADD, so he needs to eat to have enough energy. It’s amazing how those few words made such a huge and immediate difference.”

Kay hopes that Max the Monkey will reassure parents confronted with the uncertainty of an abnormal newborn screen or a diagnosis. Her family’s story has a happy ending, an uplifting example of the success of early detection amidst the tide of alarmist messages and medical jargon. Kay remembers when she first searched “MCADD” online, the top hit was a memorial site. While such spaces are unquestionably important for grieving parents and an essential part of many disease communities, Kay aims to restore some balance to the MCADD realm with an infusion of optimism.

Four years have passed since Kay completed her year on the Consumer Task Force, and nearly two since Max the Monkey Has MCADD hit the online shelves. Her affected son is a vigorous five-year-old enjoying an active summer full of outdoor activities. Nevertheless, neither time nor her dual roles as mom and project manager at a national laboratory has slowed Kay’s course. She lectures to public health students at the University of Colorado to offer a family perspective on newborn screening, presented at a newborn screening education and engagement summit in Washington DC, and spoke before the ACHDNC to advocate for more timely screening. Through her blog, she has also encouraged fellow parents to take part in newborn screening legislative efforts.

Gratitude is the unwavering value that drives her work. Since sharing her story, that sense of gratitude that has buoyed Kay and her family through their journey has spread to others who have discovered Max the Monkey. Kay has received dozens of emails from other MCADD families thanking her for the book and telling her that they liked it so much, they bought additional copies for their school library or metabolic clinic.

“I feel like I was a grateful person before, but that has been multiplied a hundredfold by this experience,” Kay says emphatically. “We absolutely owe our son’s life and health to newborn screening. There’s no question about that.”

Max the Monkey Has MCADD is available for purchase on Amazon.com. To learn more about the book and Kay Kelly’s journey as an MCADD mom, visit mcaddformoms.blogspot.com.

ABOUT THE AUTHOR:
Amelia Mulford is the Program Assistant for Expecting Health, Genetic Alliance’s maternal-child health initiative. Expecting Health houses Baby’s First Test, the national clearinghouse for newborn screening information. Amelia is interested in the ways that health systems can support families and individuals as authorities on their own medical experience. She received her BA from Lewis & Clark College in Portland, OR and plans to pursue a career in genetic counseling.