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A Rare Diagnosis Journey: Collagenous Gastritis and IGG deficiency (250)- Alexis' Story

Episode 250 Published 1 year, 2 months ago
Description

What if every milestone your child was supposed to reach came with countless curve balls? For Alexis Kaplan, motherhood quickly turned into a journey of advocacy, strength, and unwavering love as she navigated her daughter Gabby's complex and rare health conditions.

In this moving episode, Alexis shares:

✅ The moment her newborn was rushed to the NICU with a collapsed lung ✅ How her daughter's recurring infections led to a diagnosis of immunodeficiency and collagenous gastritis ✅ The emotional toll—and strength—of being the medical historian and advocate for a medically complex child ✅ How weekly infusions, therapy, and figure skating are helping her daughter thrive ✅ Her advice for parents facing rare, chronic, or undiagnosed conditions

This is a must-listen for anyone caring for a child with complex medical needs, healthcare providers who want to better understand the family perspective, and parents looking for inspiration and connection.

Timestamps & Key Topics

⏱️ [00:00] – Meet Alexis Kaplan Mother of two, former PR pro, and fierce advocate for her daughter Gabby

⏱️ [03:00] – From a Healthy Start to a Medical Emergency Gabby is born with a spontaneous pneumothorax and was immediately taken to the NICU

⏱️ [08:00] – Life After NICU The strange silence in the hospital room and the emotional weight of an unexpected start

⏱️ [10:00] – Feeding Struggles and Early Signs Something Was Wrong Eczema, weight loss, food intolerance—and a mother's instinct in full force

⏱️ [14:00] – The Fevers Begin Raging fevers, unrelenting illness, and a trip to the ER that revealed double pneumonia and RSV

⏱️ [19:00] – ENT Visits, Hearing Loss, and the Power of Child Life From audiology tests to the first Barbie from a Child Life Specialist—how support changed their hospital experience

⏱️ [22:00] – Asthma, Immunology & The First "Red Flag" Gabby's pulmonologist recommends deeper testing, leading to a pivotal moment in her diagnosis journey

⏱️ [24:00] – Periodic Fever Syndrome & Tonsillectomy A working diagnosis leads to aggressive treatment—but symptoms persist

⏱️ [26:00] – Gastroenterology, Scopes & the Search for Answers A rare diagnosis: collagenous gastritis—so rare, the doctor had never seen it before

⏱️ [29:00] – The Diagnosis That Changed Everything Immunoglobulin deficiency is confirmed, leading to weekly subcutaneous infusions at home

⏱️ [31:00] – A Grey's Anatomy Ritual & Finding Control Gabby takes charge of her infusions, watches Grey's Anatomy, and finds a routine in the chaos

⏱️ [32:00] – Advocating for the Right Medication Alexis does her own research and fights for biologic treatment to manage Gabby's symptoms

⏱️ [34:00] – Reflecting on Strength, Resilience & Motherhood The mental toll of advocating, comforting, and never giving up—and watching her daughter skate through it all

⏱️ [36:00] – TikTok Tips & Empowerment in the Hospital Line Gabby empowers other kids at the clinic with simple strategies to get through shots and IVs

⏱️ [37:00] – Final Reflections: Curveballs, Advocacy & Support How Facebook groups, therapy, and the power of asking questions help Alexis keep going

Resources & Links

📌 Follow Gabby's Skating Journey: @gkapskates on Instagram 📌 Follow Alexis' New Blog: @keep_throwing_curveballs 📲 Learn About the SupportSpot App: SupportSpot on the App Store

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