Navigating the Emotional Rollercoaster of a Rare Disease Diagnosis

I remember that day only in fragments. The weather was bright and sunny, and the examination room felt too warm. The doctor entered and sat on the exam table to talk to us, which struck me as unusual. My mind wandered—does he do this with all his patients, or only when delivering life-changing news? My heart pounded so loudly I could barely hear him as he spoke.

“Her immune system is attacking her body… you’ll be seeing lots of different specialists over the next ten-plus years… life-threatening if not controlled.”

When it was time for questions, I pulled out my notebook. I had written them down, fearing I’d forget. But the answers were hard to hear.

“Will she outgrow this?”
“No. We hope she’ll eventually go into remission, but this will be something she lives with for the rest of her life.”
“What will the flares be like?”
“They can mimic different autoimmune diseases. During one flare, her body may attack her joints. Another time, it could be her muscles, nerves, kidneys, heart, or lungs. It’s unpredictable.”
“How is it treated?”
“Oral steroids to quickly suppress her immune system and low-dose immunosuppressants, with regular bloodwork to monitor her immune function. There will be trial and error.”

Nothing prepares you for this moment—the moment your child receives a life-changing diagnosis. The fear, grief, confusion, and guilt can feel overwhelming. You might find yourself wondering how to cope, how to support your child, and how to create a sense of normalcy in a life that feels anything but normal.

The Emotional Impact of a Rare Disease Diagnosis

When your child is diagnosed with a rare disease, it’s not just their world that changes, but yours too, and that of the entire family. Common emotional experiences include:

Shock and Denial: Struggling to process the diagnosis and hoping it’s a mistake.
Grief for the Life You Imagined: Mourning the loss of the “normal” milestones and experiences you anticipated for your child.
Guilt and Blame: Wondering if you could have done something differently, even when it’s beyond your control.
Chronic Stress: Feeling emotionally and physically drained by the ongoing demands of medical care and the uncertainty about the future.
Shame: Experiencing a sense of shame stemming from feelings of guilt about the diagnosis.

These feelings are natural and valid—but they don’t have to consume you.

Challenges Parents Face

Parenting a child with a rare disease comes with unique challenges, including:

Navigating the medical system and advocating for your child’s needs.
Coping with isolation when friends and family don’t fully understand your experience.
Balancing responsibilities like caregiving, work, and relationships.
Supporting siblings while focusing on the child with the diagnosis.

I remember feeling ill-equipped to handle these challenges. Over time, I leaned into my training as a child and family therapist, applying tools that helped my family navigate these uncharted waters.

Strategies That Helped My Family Navigate the Unimaginable

Here are some strategies that made a difference for us:

Give Yourself Permission to Feel: Suppressing emotions can lead to burnout. We encouraged open conversations about feelings and found ways to express them healthily, like journaling or working with a therapist.
Seek Support Early: Connecting with other parents through support groups or online communities helped reduce isolation and provided valuable insights.
Focus on What You Can Control: Redirecting energy toward areas we could influence—like organizing medical care and establishing routines—helped us cope with uncertainty.
Prioritize Self-Care: Small acts of self-care, like a short walk or mindfulness practice, made a big difference in my energy and outlook.
Celebrate Small Wins: Focusing on progress instead of perfection shifted our mindset and gave us hope.

You’re Not Alone—Let’s Build Resilience Together

Parenting a child with a rare disease is one of the hardest journeys you’ll face. But with acknowledgment, support, and intentional steps, you can create a life for your family filled with connection, hope, and joy.

👉 Start your journey today by downloading my free Resilient Parent Toolkit, a resource designed to help your family thrive.

Get Your Free Toolkit Here

You’re not just surviving—you’re building a life where your family can truly thrive.