Meet the flok: Maple Syrup Urine Disease (MSUD)

Our “Meet the flok” series profiles the inherited conditions of protein metabolism that make up our diverse community: Classical Homocystinuria, Maple Syrup Urine Disease, Organic Acidemias, Phenylketonuria, Tyrosinemia, and Urea Cycle Disorders. Each article highlights personal stories of resilience and the efforts of advocacy leaders to support individuals facing each condition. We hope this series will educate, inspire, and unite our flok community in a shared mission to improve treatment for our rare conditions.

INDIE, SUSAN, and ADRIAN MAYS

A Life-Saving Test 

Susan and Adrian Mays are proud parents to their daughter Indie. She was born in  2013 in Washington, where routine Newborn Screening is conducted within 48 hours of a child’s birth and recommended again two weeks later. While not mandatory, the repeat screen can identify conditions that may initially go undetected. When Indie’s pediatrician encouraged the follow-up test after her first screening returned negative, Susan and Adrian questioned whether it was necessary. Fortunately, they consented – a decision that altered the course of Indie’s life. 

The Mayses were in the drive-thru at Starbucks when the doctor called with shocking news: Indie’s second Newborn Screening showed elevated levels of the amino acids leucine, isoleucine, and valine in her bloodstream. High levels are an indicator of Maple Syrup Urine Disease (MSUD). A follow-up test looks for a byproduct, called alloisoleucine, to confirm the diagnosis. Adrian and Susan pulled over to absorb the difficult news – neither of them had heard of MSUD, and Indie’s pediatrician candidly shared that it was so rare, she’d only seen the term on her medical exam. Adrian states, “We felt this dynamic shift of what we expected her birth and life to look like, to what it would be like now with this diagnosis.” 

Indie’s pediatrician referred them to the University of Washington for specialized care. After meeting with a geneticist, dietitian, and genetics counselor, the Mayses began their transition from a state of complete ignorance of MSUD, to proficiency in explaining and managing the rare metabolic condition. They learned that Indie had a disruption in the branched-chain enzyme that breaks down leucine, isoleucine, and valine – amino acids found in protein. This results in toxic levels and production of keto-acids that accumulate in the bloodstream and organs. Her genetics team determined Indie had a mild form of MSUD, which explained why her first Newborn Screening was unremarkable. Even with a milder form of the rare condition, without early intervention, she could experience irreversible brain damage, coma, and death. Because Indie’s condition was detected early, she benefited from an immediate treatment regimen that enabled her body to function and develop normally. The treatment consists of a lifelong protein-restricted diet and a medical formula that provides vital protein with amino acids she can't process removed. 

In addition to strict nutrition therapy, Indie has a “sick day protocol:” a revised diet and other practices to support her body’s metabolism. If she catches a gastrointestinal bug, her amino acid levels can rise as her body becomes catabolic, breaking down its own tissues to conserve energy. To combat this, she needs to eat calorie-dense low-protein foods and take amino acid supplements. Sometimes sickness requires a trip to the hospital for monitoring and preventative measures, like IV fluids.  

Susan vividly recalls an instance several years ago when Indie was home sick and began to display unusual behavior. She became disoriented, experienced hallucinations, and lost physical coordination. They drove Indie to the hospital and discovered her blood leucine had spiked to 1200 micromoles per liter– the therapeutic range is under 200. She was admitted, placed on a feeding tube, and kept in the hospital for five days of monitoring. While her condition stabilized quickly, the harrowing experience was a stark reminder for their family of how serious Indie’s condition is, particularly during periods of sickness. Reflecting on the incident, they highlight the need for a device to enable them to check her amino acid levels at home to make informed, real-time decisions about when to seek hospital care.  

Finding Strength in Community and Building Resilience  

Susan and Adrian credit early navigation of life with MSUD to incredible support they received from family, friends, and the MSUD Family Support Group – a worldwide organization that unites families affected by the condition. Seeking resources and guidance from other parents, they forged a close connection with a family whose son with MSUD was only four months older than Indie. They also started attending flok Family Camp when Indie was an infant, as their close friends had a daughter with PKU and encouraged them to join. Susan reflects on the benefit of talking to families from the broader metabolic community saying, “Even though our conditions are separate, there’s a lot of overlap in management and we found tremendous support in finding the similarities between them – not the differences.”  

Today, Indie’s condition remains stable, and she continues to flourish developmentally. The Mayses taught Indie about MSUD early in her life, identifying “yes” and “no” foods and including her in discussions about her body’s nutritional needs. Indie developed solid insight into her condition, and even spoke as a panelist at a Newborn Screening conference alongside Susan to share her experience. Indie discussed her diet and favorite foods, explaining, “I eat this way to protect my body and brain.” Her parents help Indie build confidence with her condition and give her freedom to eat hot lunches at school where she knows which accommodations to make to stay within her daily protein allowance. Adrian says, “At some point she will manage this independently, and so we empower her to understand and know what her responsibilities are.”  

Indie values meeting other kids who “understand what it’s like” to live with MSUD, and similar metabolic conditions. One of her favorite places is flok Family Camp in Oregon, where she can try new low-protein food items, go down the waterslide, and meet other people who share her experience. 

While considerations around low-protein foods and medical formula are a daily reality of MSUD, there is so much more to Indie than her condition. Her parents describe her as creative and positive, sharing that she excels academically, easily makes friends, and enjoys many hobbies. With a bright smile Indie adds, “I love reading books, playing soccer, singing, and playing with my brother.” While her younger brother Lincoln doesn’t have MSUD, he is considerate of her dietary restrictions and when given a low protein treat – saves it for Indie. 

Parents in Action  

Indie’s optimistic, vibrant nature is a testament to excellent support from her family who not only brave this path alongside her, but are also vocal advocates in the MSUD community. Susan asserts, “When it comes to a treatable condition, it feels wrong that a child’s outcome should be decided by what state they live in.” Their family’s personal experience with effective Newborn Screening drives Susan to improve protocols around the country to better detect all types of MSUD, as milder forms like Indie’s can be missed without a second screen. To advance this work, Susan spoke at Rare Disease Day and served as an ambassador for Expecting Health, an organization dedicated to providing families with education on newborn screening practices. She is also a task force member for the Association of Public Health Laboratories that defines best practice for long-term follow-up of individuals with conditions detected on Newborn Screening. Additionally, Susan partners with the Washington State Department of Health, where she met with the lab technicians who analyzed – and remembered– Indie’s rare test results from 2013.  

Adrian serves on the flok board, where he provides valuable perspective as an MSUD parent, and supports development of new tools and research for the broader metabolic community. He emphasizes the unknowns of aging with MSUD, and the limited understanding of its interaction with natural female biological stages like pregnancy, childbirth, and menopause.  

In addition to increased medical understanding of MSUD, Adrian and Susan advocate for federal coverage of medical food through approval of the Medical Nutrition Equity Act (MNEA). These collective efforts are key to securing a better future for Indie, and for everyone living with a rare metabolic condition. While hopeful for advancements in the coming years, they encourage flok families to lean on one another in the present – “Even if your journey looks different than ours, you’re not alone.”  

SUSAN NEEDLEMAN

Susan is 33 years old and lives near Boston, Massachusetts where she cheers on the New England Patriots and passionately advocates for the MSUD community. She has a diagnosis of Classic MSUD, which was detected by the Newborn Screening in 1990. Now a young adult with this rare metabolic condition, Susan finds herself in a unique cohort with optimism, but many unanswered questions about her future, “My generation is the first to have strong treatments as babies, so doctors have no basis for comparison in treating us.” She explains that without the benefits of early diagnosis and dietary management, many older individuals with MSUD have a lower quality of life than younger generations. Susan expresses gratitude for early detection and treatment, but knows there are still significant advancements to be made. She reflects on her diagnosis, daily life with this condition, and her hopes for the future.  

Navigating the Unknown  

Susan was already in metabolic crisis at a week old when her Newborn Screening results showed elevated leucine levels. Her parents returned to the hospital where doctors recommended Susan undergo emergency dialysis. She stayed inpatient for three weeks to stabilize, while her parents absorbed their daughter's unexpected diagnosis. Due to its rarity, few hospitals in 1990 had protocols for management of MSUD. Susan’s parents were instructed to contact pharmacies in the area to find one to supply the medical formula necessary for healthy development of their daughter’s brain and body. They were uncertain where to purchase low-protein food given the few medical food options, or how the diagnosis might impact her life.  

In a pre-internet era where resources were limited, Susan’s family sought peer support through their hospital in Boston and the Pennsylvania Clinic for Special Children. This clinic is well-versed on MSUD due to the large Mennonite population in Pennsylvania – a group which has higher-than-average prevalence of the condition. Fortunately, her parents connected with several families, both locally and across the country, living with MSUD. Their stories and support gave Susan's family tremendous hope for her future, and many are still friends to this day. 

Susan has always maintained a positive outlook on her life with MSUD. "There were no secrets. My parents involved me in discussions about my condition and diet early on,” which helped her feel confident and capable. She also liked the taste of her medical formula and foods, and never felt deprived of meat or other high-protein items. 

Even with adherence to the low-protein diet, Susan still faced the risk of metabolic crisis from sickness and was hospitalized at the ages of two, five, eight, and 24. Susan has a mild learning disability – possibly related to her metabolic crises– that necessitated several years of speech, occupational, and physical therapy, and tutoring in a specialized reading program. These supportive therapies helped Susan succeed in school and later graduate from Wentworth Institute of Technology in Boston with a degree in Computer Information Systems. For those with MSUD and other metabolic conditions, Susan states, “We may need accommodations with our diet and learning, but we are very capable.” 

Adult Life and Advocacy 

In adulthood, Susan manages her condition with diligence, counting the leucine content in her food and doing finger pricks at least once a month to monitor her blood levels – neither of which are straightforward processes. Dietary tracking involves calculation of leucine and protein from content on food labels, and consultation with her dietitian and doctor on new foods in the market. Susan is grateful for recent innovation in dietary tracking with flok app and its food database that provide protein to leucine conversions – “It’s a dream come true for me.”  

And while she takes a blood sample at home, it can only be analyzed at certain specialized labs where the turnaround time can take several days. She emphasizes the community’s need for better testing options – whether it be improved lab capabilities or home monitoring systems that provide immediate results.  

Life with MSUD means there are many things to consider each day – what foods to eat, staying within a leucine and protein allowance, consuming medical formula, and avoiding sickness. These daily obstacles amplify Susan’s passion to engage and support the broader MSUD community. She became Editor of the newsletter for the MSUD Family Support Group – an organization dedicated to connecting families and advancing research and care. She is the Secretary of the New England Connection for PKU and Allied Disorders, and the MSUD Chair for Canadian PKU and Allied Disorders. She also hosts a monthly virtual meet-up for teens and adults with MSUD, showing a commitment to support her community with a forum to share experiences, advice, and hopes.  

Susan’s advocacy also extends to the medical realm, where she often explains her rare condition to medical staff. Given that MSUD can require emergency care during a sickness, she meets many providers unfamiliar with its management. Susan notes a gap in knowledge between pediatric and adult medicine when it comes to rare metabolic conditions, and states more support is needed when transitioning care. She encourages others to be vocal, educate providers, and remember they are the experts of their own body.  

As a successful, thriving adult with MSUD, Susan wants to reassure parents of children newly diagnosed with the condition, “Know that your child will be fine. They may face challenges, but they will live a fulfilling life. MSUD will be a part of who they are, not everything.”  

AMANDA ANDRAOS

Meet Amanda, an energetic 36-year-old, who lives in North Carolina with her husband, works a full-time job she loves, and travels the world at every opportunity. She shares her early adjustment to life with MSUD, how she supports the broader metabolic community, and her hopes for improved research on this rare condition.  

Diagnosis and Adjustment  

When Amanda didn’t sleep or eat well during her first week of life, her mother drove her to University of North Carolina Medical Center for evaluation. She underwent extensive testing and at nine days old, received a diagnosis of Classic MSUD. While Amanda can’t remember those first years of life with MSUD, she does recall asking her mother for permission before she ate anything– “My mother was very clear about what foods I could and could not eat.”  Amanda’s parents were born in Lebanon, and cooked traditional Mediterranean foods for her family – omitting the protein on her plate. She consumed lots of pasta and pancakes as a child, as low-protein food options were extremely limited. She had a strong distaste for her medical formula and often refused it until her mom mixed it with Kool-Aid – a practice she stuck to for many years.  

Reflecting on early adjustment to managing MSUD, Amanda cites taking blood spots at home as one of the most challenging aspects. Lancet technology was less refined and involved a “stabbing” motion, like using an EpiPen, to get the necessary amount of blood on the filter paper. She still dislikes finger pricks to this day. 

Despite uncomfortable blood draws and limited dietary resources during Amanda’s childhood, she thrived with excellent support from her family, and hands-on dietitians and providers. Her condition has remained stable, except for periods of acute illness. Even with careful dietary management and routine bloodwork to check her amino acid levels, Amanda is hospitalized once a year on average due to significant sickness, like the flu. Amanda follows a protocol to prevent hospitalization that involves consuming extra medical formula and very low-protein foods, like mashed potatoes and fruit. If the sickness persists, sometimes a hospital trip cannot be avoided. Amanda now recognizes symptoms from a leucine spike in her blood – “I become nauseated, irritable, and have trouble with concentration and balance.” Her symptoms usually resolve after receiving IV fluids.  

Amanda hopes for development of a drug like Sapropterin – which reduces phenylalanine in the blood of individuals with PKU – for the MSUD community to prevent leucine elevation leading to metabolic crisis while also liberalizing the low-protein diet. Amanda says, “That would be a life-changer for our community.”  

Community Connection  

Amanda graduated from the University of North Carolina Greensboro with a Bachelor's degree in Nutrition, and later earned a Master's degree in Public Health at Lenoir-Rhyne University. Her personal experience with MSUD and academic studies furthered her interest in engaging with the broader metabolic community. She served as an assistant counselor at Emory University’s Metabolic Camp in Atlanta, where she was the only camper with MSUD. She enjoyed the connection opportunity and since has participated in various MSUD events and contributed to organizations defining best practice for management of the condition. She attends in-person symposiums offered through the MSUD Family Support Group and was featured in their newsletter to provide travel tips to community members. She also served on a workgroup at GMDI to develop guidelines for the nutritional management of MSUD.  

Amanda’s current activism involves communication with the international MSUD community through the MSUD Family Support Group’s Facebook page. Fluent in Arabic, she connects with families in the Middle East who receive a new diagnosis of MSUD and turn to the Facebook group for answers and guidance. “People in other countries often have no information on MSUD and think it’s a death sentence. I tell them not to worry – I live with this every day and I’m 37. I have a master’s degree, I’m married, and life is good!”  

Amanda has counseled several individuals and families with MSUD from Lebanon – her family’s birthplace and one of her favorite countries to visit. She maintains contact with them in hopes to one day meet face-to-face.  

Understanding MSUD   

While Amanda is grateful for an early diagnosis and successful management of her condition, she acknowledges many unknowns when it comes to her future. She has experienced an increase in anxiety over the last few years and attributes this to aging with MSUD. There’s minimal medical understanding of how progression through natural life cycles affects amino acids levels and whether MSUD management requires adjustment during those times. “I have no idea how it will play out,” Amanda admits. She often reaches out to other members of her community close in age to learn about their personal experience; in the absence of medical research, conversations with peers are a vital source for what to expect.  

Despite these unanswered questions, Amanda stays optimistic about her future, and those given a new MSUD diagnosis. “If you’re diagnosed early, you can do so much – this condition doesn’t have to hinder you.” Discussing destination options for her next beach trip, Amanda continues to live her life doing what she loves most.