Melanie, mom to 12-year-old Masen, shares the unexpected path to her son's diagnosis with Homocystinuria (HCU) after a routine eye exam revealed something "off." What followed was months of uncertainty, a rare diagnosis few providers had even heard of, a crash course in low-protein diets and metabolic formulas, and two back-to-back eye surgeries to prevent further damage. With gentleness, honesty, and deep advocacy, Melanie describes how they adjusted as a family, how Masen built resilience, and how finding community changed everything. A story of early detection, parent intuition, and the power of connection.

Why this episode matters

Rare disease reality: What it feels like to navigate a diagnosis most clinicians have never seen

Caregiver intuition: How a parent's sense that "something isn't right" can spark life-saving action

Practical communication: Age-appropriate ways to explain health changes, procedures & dietary needs

Health equity & systems gaps: When newborn screening misses what should have been caught

Hope forward: The resilience of kids—and the strength families build together

What You'll Learn

• Early signs Masen showed (or didn't show) before diagnosis

• How a routine eye exam led to life-changing discoveries

• What HCU is, and why newborn screening only catches ~50% of cases

• How metabolic diets work—and why the formula is so hard for kids

• Talking to kids about scary changes in simple, honest language

• Navigating back-to-back eye surgeries

• How parents balance their own needs while supporting their child

• Building resilience without expecting perfection

• The power of community: conferences, meetups, Facebook groups

• Advocating for improved newborn screening for future families

Timestamps

00:00 Meet Melanie & Masen: family intro, life in Vancouver
01:23 Sports, hockey, and life surrounded by nature
01:56 Routine eye exam → the moment everything changed
03:38 The optometrist's concerns & the start of uncertainty
04:01 Google panic, calling providers, needing answers
04:55 Keeping fears private during COVID
07:38 Mother's Day call: the rare diagnosis finally revealed
07:47 What HCU is and why newborn screening misses it
10:45 Treatment basics: low protein & metabolic formula
11:19 Explaining diagnosis to an eight-year-old
13:14 Parenting through fear while staying regulated
14:52 "Eat the prawns in the pantry"—navigating food changes
17:29 Building resilience while validating hard feelings
18:31 Finding community online & through HCU conferences
20:41 Masen meets other kids with HCU
22:33 Advocacy: improving newborn screening across Canada
24:28 Social media vs. real-life progress
24:58 Masen's eye surgeries & long-term vision care
27:46 What parents can request if concerned about HCU
30:22 Trusting your care team & staying curious
30:51 Who Masen is beyond a diagnosis
34:22 Where to learn more about HCU

Melanie shares that…

• "My heart was racing. I knew something was off."

• "Most doctors have never even heard of HCU."

• "The formula tastes terrible, but it keeps him healthy."

• "You can be proud of your child's resilience and still wish they didn't need it."

• "This should have been caught at birth—we want to change that for future kids."

Resources & Links

HCU & Metabolic Disorder Communities

• HCU Network America (Instagram: @hcunetwork_america)

• CANPKU+ (Instagram: @canadian.pku)

SupportSpot App (by Child Life On Call)

Procedure guides, coping plans, journals, and parent resources to help families feel prepared and advocate with confidence.

Meet the host: 

Katie Taylor is the co-founder and CEO of Child Life On Call, a digital platform designed to provide parents, kids, and the care team with access to child life services tools and resources. She is a certified child life specialist with over 13 years of experience working in various pediatric healthcare settings. Katie is the author of the children's book, and has presented on the topics of child life and entrepreneurship, psychosocial care in the hospital, and supporting caregivers in the NICU setting both nationally and internationally. She is also the host of the Child Life On Call Podcast which features interviews with parents discussing their experiences throughout their child's medical journey. The podcast emphasizes the crucial role of child life services in enabling caregivers both at and beyond the bedside.

Instagram.com/childlifeoncall

 

The Child Life On Call Podcast is for informational and educational purposes only. The content shared in each episode, including stories, discussions, and interviews, is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay seeking it because of something you heard on this podcast. The views and opinions expressed by guests on the Child Life On Call Podcast are their own and do not necessarily reflect those of Child Life On Call. Child Life On Call does not endorse any specific medical treatments, procedures, or opinions shared in the podcast. If you or your child are experiencing a medical emergency, call 911 or seek immediate medical attention. By listening to this podcast, you acknowledge that Child Life On Call and its affiliates are not responsible for any decisions made based on the information provided.

Facebook.com/childlifeoncall

linkedin.com/in/kfdonovan