Metabolically Speaking

Metabolically SpeakingRare conditions, Real stories.Finding Her Voice in Early Adolescence With PKUWith Norah and StaciAt 11 years old, Norah is learning to navigate early adolescence while living withPKU - balancing school, friendships, jazz band, sports clubs, and the desire tosimply fit in. With support from her Mom, Staci, she’s building confidence andindependence as she learns to manage her condition and advocate for herself.In this episode, Norah shares what it really feels like to grow up with PKU, fromsleepovers and celebrations to managing formula and explaining her condition toothers. Together, Norah and Staci reflect on how their family works as a team tobalance responsibility, independence, and daily PKU care.Join us for this uplifting conversation on Metabolically Speaking, a reminder thatchildren living with PKU don’t want sympathy, they want understanding, normalcy,and the chance to thrive on their own terms.Show NotesFind out more about Cambrooke:www.cambrooke.com/aboutwww.linkedin.com/company/cambrooke-therapeuticswww.instagram.com/ajinomoto_cambrookewww.facebook.com/AjinomotoCambrookeGet in touch with us: [email protected] Baker:www.instagram.com/phenylketonuriaandmewww.linkedin.com/in/maridithbakerwww.facebook.com/maridith.bakerResources from Norah and Staci:NPKUA Mentor Program: Mentor | NPKUAMetabolically SpeakingRare conditions, Real stories.

Metabolically SpeakingRare conditions, Real stories.Thriving with Isovaleric Acidemia: Micah’s Journeywith Justin HensleyThis month on Metabolically Speaking, we’re joined by Justin, who shares hisfamily’s deeply personal journey of parenting a child with Isovaleric Acidemia (IVA). Justin explains what IVA is and how his son, Micah, was diagnosed through newborn screening. He discusses the challenges his family faced as first-time parents, including an early metabolic crisis that resulted in permanent neurological impact, and the fear and uncertainty that followed.The conversation covers the realities of navigating care in the early stages, whenlimited guidance meant Justin and his wife had to quickly become advocates andexperts in their son’s condition. Justin speaks about the process of grieving thefuture they once imagined for Micah, while simultaneously fighting for the care heneeded to survive and develop.A central theme of the episode is the role of nutrition as the foundation of metabolic care. Justin shares how nutrition impacts Micah’s energy, focus, emotional regulation, and overall comfort, and why the quality of formula and nutritional support matters. He highlights the impact that accessing the right nutrition, including support from organisations such as Cambrooke Care, has had on Micah’s symptoms and quality of life.We also discuss the importance of community and advocacy, the organisations that have supported Micah’s ongoing development, and what Justin hopes for the future: dignity, stability, increased awareness of metabolic conditions, and equitable access to high-quality nutrition.This episode offers reassurance for families at the beginning of their journey,reminding listeners that they are not alone, and that a diagnosis does not define the person or the caregiver.Show NotesFind out more about Cambrooke:Metabolically SpeakingRare conditions, Real stories.www.cambrooke.com/aboutwww.linkedin.com/company/cambrooke-therapeuticswww.instagram.com/ajinomoto_cambrookewww.facebook.com/AjinomotoCambrookeGet in touch with us: [email protected] Baker:www.instagram.com/phenylketonuriaandmewww.linkedin.com/in/maridithbakerwww.facebook.com/maridith.bakerResources from Justin:Organic Acidemia Association – we care for the rareNational Organization for Rare Disorders | NORDHome | Newborn ScreeningCAMBROOKEcare Reimbursement

This month on Metabolically Speaking we’re joined by Sarah Chamberlin, founder and Executive Director of flok Health and parent to a daughter with PKU. A recurring theme on the Metabolically Speaking podcast is the power of community, and this episode is no exception. We explore the story behind flok; why it exists, what it hopes to change, and how its name represents people coming together for protection, support, and progress. Sarah shares how flok is determined to drive research and improve care for everyone in the metabolic community. We discuss what it means to advocate for something and explore how this may differ as someone living with a metabolic condition and someone supporting or caring for others. Sarah breaks down how storytelling, data sharing, and asking for help can empower individuals. She also emphasises that advocacy isn’t one-size-fits-all: sometimes it’s loud, sometimes it’s quiet, but being transparent about what you need is key. Diving into the science and history, we revisit the low protein diet, a cornerstone of metabolic care since newborn screening began in the 1960s. Every individual’s dietary needs differ, and teaching children the “why” behind their restrictions is essential for confidence, flexibility, and independence.Yet, despite decades of progress, current healthcare systems continue to fall short. Coverage for formula and low-protein foods remains inconsistent, impacting families’ daily lives, opportunities, and even personal decisions such as career and marriage. Diet is central to treatment, and it is healthcare.We celebrate innovations that support families, such as digital tools like the flok app that helps build real-time patient histories, offering new ways to understand day-to-day experiences and inform future care.Looking ahead, Sarah shares her hopes for the future: that baseline needs are met, that access to formula and low-protein foods is no longer a battle, and that understanding and acceptance become standard. Rare disease can be isolating, but coming together, whether online, in person, or through shared stories, creates comfort, community, and growth. Every situation is unique, and every experience matters. Whether you’re living with a metabolic condition, supporting someone who is, or simply seeking a deeper understanding of the community, this conversation is full of honesty, hope, and the reminder that none of us are alone.If you’d like to learn more after listening, you’ll find resources and links in the show notes below. Thank you for joining us! Show Notes  Find out more about Cambrooke: www.cambrooke.com/about LinkedinInstagramFacebookGet in touch with us: [email protected] Baker:Instagram LinkedinFacebookResources from Sarah: Welcome to flok Research  flok | Appflok Together | Facebookflok Health | FacebookPatients & Providers for Medical Nutrition Equity Instagram.com/flokhealthapp

This month on Metabolically Speaking, we’re joined by Stephanie Hacker, a Metabolic Dietitian and Newborn Screen Program Manager at the University of Miami. With years of experience supporting individuals with inborn errors of metabolism (IEMs), Stephanie is passionate about helping people live active, balanced, and fulfilling lives. In this insightful episode, Stephanie and host Maridith Baker explore the powerful connection between physical activity, health, and quality of life. Whilst research into IEMs and fitness remains limited, Stephanie shares that evidence on the benefits associated with being active is universal. Whether it’s walking, dancing, lifting weights, or simply taking the stairs, movement is essential, and there’s something for everyone.Stephanie shares practical guidance on how to approach exercise safely and sustainably, highlighting the importance of teamwork with your metabolic care team and finding activities that bring joy. We dive into the science of fuelling correctly for exercise. Stephanie explains why carbohydrates are key for energy and how replacing amino acids after activity supports muscle recovery. Whilst debated by many, nutrition timing is considered very important, and for people with IEMs, medical foods or formula can serve as their most effective “sports supplement”.Through inspiring real-life stories, including that of a young boy with PKU who went from dreaming of playing baseball, to being recruited for Division 1 and minor league baseball teams all whilst maintaining healthy Phe levels, Stephanie demonstrates that with the right support, anything is possible.At its heart, this episode is about empowerment through movement. Whether you’re living with an IEM, supporting someone who is, or simply looking to be inspired to move more, this conversation will leave you motivated to take that next step. If you’d like to know more after listening, you’ll find resources and links in the show notes below. Thank you for joining us!   Show Notes Find out more about Cambrooke:www.cambrooke.com/about www.linkedin.com/company/cambrooke-therapeuticswww.instagram.com/ajinomoto_cambrookewww.facebook.com/AjinomotoCambrookeGet in touch with us: [email protected] Baker:www.instagram.com/phenylketonuriaandmewww.linkedin.com/in/maridithbakerwww.facebook.com/maridith.bakerResources from Stephanie:World Health Organization: Physical ActivityImportant notice: Listeners should consult their medical providers prior to making any changes to their activity or treatment plans.

This month on Metabolically Speaking, we’re joined by Brittany Murray, a doctoral graduate, public speaker, and nurse practitioner at one of the world’s leading pediatric institutions. She’s also living with PKU.  In this inspiring episode, Brittany shares how she’s come to see her condition not as a limitation, but a gift. From her early involvement in the PKU community to building a career in healthcare, Brittany uses her experience to empower others living with rare metabolic conditions. Her journey is one of purpose, passion, and advocacy.Together with host Maridith Baker, Brittany explores the power of community, including friendships, shared experiences, and support systems that remind us that we’re never alone. We take a deep dive into the everyday realities of living with PKU: balancing protein levels, managing hunger, and finding satisfaction in familiar staples such as french fries. Brittany’s practical insights and lived experience shed light on what it truly means to live fully and freely with PKU.At the heart of this episode is empowerment. Brittany’s approach to healthcare is rooted in empathy and education and her philosophy of “blame the disease, not the patient” reminds us of the transformative impact of understanding and support. As Brittany beautifully puts it, “Your rare condition is your superpower.” Whether you’re living with PKU, supporting someone who is, or simply seeking knowledge and inspiration, this episode will leave you feeling uplifted and encouraged.If you’d like to know more after listening, you’ll find resources and links in the show notes below. Thank you for joining us! Find out more about Cambrooke: www.cambrooke.com/about LinkedInInstagramFacebookGet in touch with us: [email protected] Baker:InstagramLinkedInFacebookResources from Brittany:NECPADFLOKNPKUAPerspectives and Insights Into Phenylketonuria: Patient Narratives About the Early Years Following Newborn Screening - click hereNew England Consortium (Transition to Adulthood toolkit resources):Transition Toolkit — New England Consortium of Metabolic Programs PKU and Exercise:The exercising patient with phenylketonuria: Considerations and research recommendations - ScienceDirect  PKU-Sports-Nutrition-April-2018.pdf PKU dietary handbook to accompany PKU guidelines | Orphanet Journal of Rare Diseases | Full Text

This month on Metabolically Speaking, we’re joined by pediatric neuropsychologist Dr. Kendra Bjoraker. With specialized expertise in rare genetic and metabolic conditions, Kendra has dedicated her career to supporting individuals and families as they navigate challenges, celebrate strengths, and hold onto hope.Kendra, and host Maridith Baker, dive into the realities of living with both a mental health condition and a metabolic condition, and how persistence, adaptation, and cognitive flexibility are essential parts of the journey. From formal definitions of depression and anxiety to stark statistics and practical coping strategies, Kendra sheds light on what it means to care for our mental health, just as we do our physical health, and how this can look different at every stage of life. She talks about the emotional, psychological, physical, and spiritual processes involved following lifelong and life changing diagnoses.At the heart of this conversation is connection and hope. Kendra leads us through her simple 5-4-3-2-1 activity to reset and recenter and shares with us her own quote on hope and the powerful story behind it; “When all you need is a drop of hope; and many times, a drop is all you have... For without hope there is nothing.”   Whether you are living with a lifelong condition or supporting a loved one, this episode offers validation, encouragement, and tools you can carry with you forever. If you'd like to know more after listening to this episode, you'll find resources and links in the show notes below. Thank you for joining our conversation.Show Notes • Find out more about Cambrooke:o Cambrooke About Page o Cambrooke LinkedIn o Cambrooke Instagram o Cambrooke Facebook • Get in touch with Cambrooke: o   [email protected] • Dr. Kendra Bjoraker: o   Bjoraker Neuropsychology Consultants, PLLC | neurological care• Maridith Baker:o      www.instagram.com/phenylketonuriaandmeo      www.linkedin.com/in/maridithbakero      www.facebook.com/maridith.bakerOrganizations that Educate and Offer HelpNational Alliance on Mental Illness 1-800-950-NAMI (1-800-950-6264)Anxiety and Depression Association of America 1-240-485-1001National Institute of Mental Health 1-866-615-6464Centers for Disease Control and Prevention Division of Mental Health 1-800-CDC-INFO (1-800-232-4636)American Psychological Association 1-800-374-2721American Psychiatric Association 1-703-907-7300https://www.anxiety.orghttp://www.childanxiety.nethttps://locator.apa.orgNational Suicide Prevention Lifeline 1-800-273-8255

Welcome to the very first episode of Metabolically Speaking!We’re kicking things off with an inspiring conversation you won’t forget. Our first guest is a community advocate, leader, and founder of Cambrooke; Lynn Paolella. In this episode, Lynn shares her experience on receiving not one, but two PKU diagnoses in her family and how those life-changing moments ignited the creation of Cambrooke, a global innovator in the field of advanced medical nutrition. She shares the highs, the lows, and all of the moments in between. Joined by host Maridith Baker, we explore the defining moment that shaped Lynn’s journey into creating low-protein foods and formulas. From classroom anecdotes to huge milestones, Lynn shares her why. She delves into her desire to provide better, palatable nutrition options for her children and families living with inherited metabolic disorders, and how her and her husband’s mission was driven by love and determination.At the heart of this episode is a powerful theme; community. Through cooking meet ups with other PKU Mom’s to working alongside healthcare professionals to develop good-tasting, low protein options, Lynn shares how building a community has been the secret ingredient in her story. Lynn’s unwavering commitment to supporting families navigating life with rare metabolic disorders is nothing short of extraordinary. Whether you’re a parent, a patient, or just curious to know more, this episode is here to educate, inspire, and uplift. If you'd like to know more about Lynn and Cambrooke after listening to this episode, you'll find resources and links in the show notes below. Thank you for being here with us from the very beginning.Show Notes Find out more about Cambrooke: •   www.cambrooke.com/about o      www.linkedin.com/company/cambrooke-therapeuticso      www.instagram.com/ajinomoto_cambrookeo      www.facebook.com/AjinomotoCambrooke•      Get in touch with Cambrooke: o   [email protected] • Lynn Paolella: o   www.linkedin.com/in/lynn-paolella-a827b510• Maridith Baker:o      www.instagram.com/phenylketonuriaandmeo      www.linkedin.com/in/maridithbakero      www.facebook.com/maridith.baker• New England Connection for PKU and Allied Disorders (NECPAD): o   https://www.necpad.org/ • National PKU Alliance (NPKUA)o   https://www.npkua.org/ • Floko   https://flok.org/ • Patients and Providers for Medical Nutrition Equity o   https://nutritionequity.org/ • California Coalition for PKU and Allied Disorders o   https://www.ccpkuad.org/ • E.S.PKUo  https://www.espku.org

Living with a metabolic condition is about embracing more. More things you can do, more you can enjoy, and more adventures along the way. Metabolically Speaking unpacks the perceived challenges facing individuals and families living with inherited metabolic conditions. Host Maridith Baker, who knows firsthand what it means to live fully with PKU, brings her unique spark, energy and deep curiosity to every conversation. Through expert interviews and shared experiences, each episode blends metabolic knowledge with practical advice. Covering topics such as identity, relationships, mental health, advances in research and the ordinary moments that make life extraordinary. Subscribe to Metabolically Speaking to join your tribe, breaking through barriers and living without limits. Help others find this community by leaving a review or sharing with a friend.