Beyond the Diagnosis: The Critical Need for Mental Health Support in the Rare Community

Ronda and her daughter, Raeah

May is Mental Health Awareness Month, so Global Genes reached out to mental health professionals in the rare disease community for their expertise. Ronda Thorington, LPC, has contributed to a variety of mental health efforts provided through Global Genes events and webinars, and provided her expertise in this contribution:

Mental health and wellness is a vital aspect of our well-being, but is often overlooked, and doesn’t receive the same attention as our physical health. My professional experience as a licensed mental health therapist has shown me
the necessity of advocating for the mental health needs of clients in their communities. Personally, as a parent of a child with mixed connective tissue disease, I’ve seen the gaps in our healthcare system firsthand. Although the system is equipped to manage her medical condition effectively, it frequently falls short in addressing her emotional needs. This discrepancy underscores the urgent need for comprehensive mental health support, especially for those living with or caring for someone with a rare disease.

The mental health impacts of a rare disease diagnosis are far-reaching and common. Statistics show that rare disease patients and their caregivers experience higher rates of stress, anxiety, and depression than the general population. These challenges are compounded by factors such as delayed diagnosis, the need to consult multiple specialists, and ongoing uncertainty about health and future prospects. My own family’s diagnostic odyssey led us to several children’s hospitals across various states all while trying to maintain a degree of normalcy for my other two children, the youngest of whom was an infant at the time. This along with managing a newly formed psychotherapy practice and a marriage was overwhelming, and there were moments when I didn’t think I could keep my head above water.

If you are one of the lucky ones to get a diagnosis — up to 50% of rare disease patients never arrive at one — the reality of living with a rare disease can deepen feelings of despair and helplessness, compounding emotional distress. In the early stages of my daughter’s illness, our life was consumed by medical appointments, treatments, and testing. Her health quickly declined, and eventually, she became unable to attend school and was homebound from 2nd to 5th grade. This period was marked by profound grief and anxiety, making it clear to me that her emotional well-being and that of our family needed to be a priority.

That was 12 years ago. Throughout this time, my interactions with various medical providers often led to suggestions that I formalize my services for families impacted by rare or chronic diseases. Initially hesitant, I soon realized through working with clients referred to my practice who also incidentally had rare diseases that my personal experiences enhanced my professional impact. Understanding the nuances of living with a rare disease enabled me to offer genuine support and empathy. It was a strength, not a weakness.

This realization led me to establish Resilient Parent Consulting, where I help families navigate the emotional challenges of a child’s rare disease diagnosis. Through my work, I aim to bridge the gap between clinical support and the real-world needs of families navigating rare and/or chronic disease, ensuring that every family receives the comprehensive and compassionate care they deserve. This approach not only supports families in crisis but also enriches the community by fostering a deeper understanding of the complex interplay between physical health and mental well-being.

During this Mental Health Awareness Month, it is important to remember that robust mental health support to patients with rare diseases and their families is not just necessary—it is crucial. The unique and relentless challenges we face as rare disease patients and caregivers can lead to profound psychological distress, which often goes unaddressed due to the scarcity of specialized resources. Recognizing and actively addressing these mental health needs can dramatically improve quality of life. It is essential that we build a more supportive healthcare ecosystem that encompasses not only the physical but also the emotional well-being of those impacted by rare diseases. By ensuring accessible and empathetic mental health support, we affirm the value of comprehensive care, fostering an informed and resilient community.

Ronda Thorington, LPC, has over 20 years of experience as a Licensed Professional Counselor, working with individuals across the lifespan. She leads a successful private practice, specializing in treatment of children and families. In 2012, her life was forever changed when one of her three children developed mixed connective tissue disease at four-years-old. Ronda’s focus shifted after experiencing firsthand the lack of mental health resources for patients and families impacted by rare and/or chronic disease. She founded Resilient Parent Consulting to use her clinical expertise and personal insights to coach and consult with families facing life-changing medical diagnoses. Her coaching offers tools and strategies for resilience, self-advocacy, and hope, aiming to help families overcome overwhelm and lead fulfilling lives that are not defined by a diagnosis. When she’s not working, you can find Ronda hanging out with her husband and her three teenage children or in the kitchen experimenting with new recipes. Connect with Ronda at www.resilientparentconsulting.com; by email at [email protected]; on Facebook and LinkedIn at Ronda Thorington Parent Coach, and on Instagram @rtparentcoach.

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