Metabolically Speaking

7. Finding Her Voice in Early Adolescence With PKU with Norah and Staci

Metabolically Speaking Rare conditions, Real stories. Finding Her Voice in Early Adolescence With PKU With Norah and Staci At 11 years old, Norah is learning to navigate early adolescence while living with PKU - balancing school, friendships, jazz band, sports clubs, and the desire to simply fit in. With support from her Mom, Staci, she’s building confidence and independence 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, from sleepovers and celebrations to managing formula and explaining her condition to others. Together, Norah and Staci reflect on how their family works as a team to balance responsibility, independence, and daily PKU care. Join us for this uplifting conversation on Metabolically Speaking, a reminder that children living with PKU don’t want sympathy, they want understanding, normalcy, and the chance to thrive on their own terms. Show Notes Find out more about Cambrooke: * www.cambrooke.com/about * www.linkedin.com/company/cambrooke-therapeutics * www.instagram.com/ajinomoto_cambrooke * www.facebook.com/AjinomotoCambrooke Get in touch with us: MetabolicallySpeaking@cambrooke.com Maridith Baker: * www.instagram.com/phenylketonuriaandme * www.linkedin.com/in/maridithbaker * www.facebook.com/maridith.baker Resources from Norah and Staci: * NPKUA Mentor Program: Mentor | NPKUA Metabolically Speaking Rare conditions, Real stories.

6. Thriving with Isovaleric Acidemia: Micah’s Journey with Justin Hensley

Metabolically Speaking Rare conditions, Real stories. Thriving with Isovaleric Acidemia: Micah’s Journey with Justin Hensley This month on Metabolically Speaking, we’re joined by Justin, who shares his family’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, when limited guidance meant Justin and his wife had to quickly become advocates and experts in their son’s condition. Justin speaks about the process of grieving the future they once imagined for Micah, while simultaneously fighting for the care he needed 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 Notes Find out more about Cambrooke: Metabolically Speaking Rare conditions, Real stories. www.cambrooke.com/about [https://rebrand.ly/19cad9] www.linkedin.com/company/cambrooke-therapeutics [https://rebrand.ly/5b618e] www.instagram.com/ajinomoto_cambrooke [https://rebrand.ly/e00a0a] www.facebook.com/AjinomotoCambrooke [https://rebrand.ly/243d84] * Get in touch with us: MetabolicallySpeaking@cambrooke.com * Maridith Baker: www.instagram.com/phenylketonuriaandme [https://rebrand.ly/48a2c9] www.linkedin.com/in/maridithbaker [https://rebrand.ly/626beb] www.facebook.com/maridith.baker [https://rebrand.ly/564e73] * Resources from Justin: Organic Acidemia Association – we care for the rare [https://rebrand.ly/organic-acidemia-6f3050] National Organization for Rare Disorders | NORD [https://rebrand.ly/dc9b23] Home | Newborn Screening [https://rebrand.ly/newborn-screening-c73c31] CAMBROOKEcare Reimbursement [https://rebrand.ly/cambrookecare-43bcdd]

5. Personal Advocacy, Collective Progress: A New Era in Metabolic Care with Sarah Chamberlin

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 [https://rebrand.ly/ajinomoto-cambrooke-0b6e87]  * Linkedin [https://rebrand.ly/feedview-9b3686] * Instagram [https://rebrand.ly/581507] * Facebook [https://rebrand.ly/1766d3] * Get in touch with us: MetabolicallySpeaking@cambrooke.com [MetabolicallySpeaking@cambrooke.com] * Maridith Baker: * Instagram [https://www.instagram.com/phenylketonuriaandme]  * Linkedin [https://rebrand.ly/1bfff6] * Facebook [https://rebrand.ly/log-facebook-72f8cb] * Resources from Sarah:  * Welcome to flok Research [https://rebrand.ly/research-95bd12]   * flok | App [https://rebrand.ly/113294] * flok Together | Facebook [https://rebrand.ly/log-facebook-43f598] * flok Health | Facebook [https://rebrand.ly/3bec2e] * Patients & Providers for Medical Nutrition Equity [https://rebrand.ly/nutrition-afdf3e] * Instagram.com/flokhealthapp [https://rebrand.ly/b9a535]

4. Redefining Limits – Breaking Fitness Barriers in Metabolic Conditions with Stephanie Hacker

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 [https://rebrand.ly/ajinomoto-cambrooke-3e8123]  * www.linkedin.com/company/cambrooke-therapeutics [https://rebrand.ly/aa2805] * www.instagram.com/ajinomoto_cambrooke [https://rebrand.ly/398a76] * www.facebook.com/AjinomotoCambrooke [https://rebrand.ly/f66f93] * Get in touch with us: MetabolicallySpeaking@cambrooke.com [MetabolicallySpeaking@cambrooke.com] * Maridith Baker: * www.instagram.com/phenylketonuriaandme [https://rebrand.ly/2f79bd] * www.linkedin.com/in/maridithbaker [https://rebrand.ly/e27d4e] * www.facebook.com/maridith.baker [https://rebrand.ly/log-facebook-a91b8b] * Resources from Stephanie: * World Health Organization: Physical Activity [https://rebrand.ly/physical-activity-564cb6] * Important notice: Listeners should consult their medical providers prior to making any changes to their activity or treatment plans.

3. From Patient to Practitioner – A PKU Story of Purpose, Passion, and Practice with Brittany Murray

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 [https://rebrand.ly/ajinomoto-cambrooke-ac1f66]  * LinkedIn [https://www.linkedin.com/company/cambrooke-therapeutics/posts/?feedView=all&utm_content=Episode%203%20] * Instagram [https://www.instagram.com/ajinomoto_cambrooke/?utm_content=Episode%203%20#] * Facebook [https://www.facebook.com/AjinomotoCambrooke?utm_content=Episode%203%20] Get in touch with us: MetabolicallySpeaking@cambrooke.com [MetabolicallySpeaking@cambrooke.com] Maridith Baker: * Instagram [https://www.instagram.com/phenylketonuriaandme/?utm_content=Episode%203%20#] * LinkedIn [https://www.linkedin.com/in/maridithbaker/?utm_content=Episode%203%20] * Facebook [https://www.facebook.com/maridith.baker] Resources from Brittany: * NECPAD [https://www.necpad.org/?utm_content=Episode%203%20] * FLOK [https://flok.org/?utm_content=Episode+3+] * NPKUA [https://www.npkua.org/?utm_content=Episode%203%20] * Perspectives and Insights Into Phenylketonuria: Patient Narratives About the Early Years Following Newborn Screening - click here [https://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.32110?utm_content=Episode+3+] * New England Consortium (Transition to Adulthood toolkit resources): Transition Toolkit — New England Consortium of Metabolic Programs [https://rebrand.ly/transition-toolkit-8955d8]  PKU and Exercise: * The exercising patient with phenylketonuria: Considerations and research recommendations - ScienceDirect [https://rebrand.ly/95f4f4]   * PKU-Sports-Nutrition-April-2018.pdf [https://rebrand.ly/cce07f]  * PKU dietary handbook to accompany PKU guidelines | Orphanet Journal of Rare Diseases | Full Text [https://rebrand.ly/pku-342728]