The Beginner’s Guide to Rare Disease

If you were just diagnosed with a rare disease or you are feeling you may remain undiagnosed as you continue to search for answers, you are bound to be wondering what can I do?

We often hear “there is no guide book for this”. It’s so hard to know where to begin to find more answers.
Here are a few attempts to guide you suggested by some people who have been there.

Mackenzie Abramson
Senior Manager, Research Programs Communications at Global Genes

“The most helpful resource that I have discovered as my diagnostic odyssey and undiagnosed journey has continued throughout my adult life is The Global Genes Rare Concierge Program. In the face of a diagnosis I had never heard of, and frankly, had no mental or physical capacity to address, the rare concierge guided me to available research so that I could make informed decisions about next steps.”
– Mackenzie Abramson (lives with EDS and other rare conditions).

“The guidebook we all say doesn’t exist? It does exist now. The “Circle of Care Guidebook for Parents of Children with Rare or Serious Illnesses”. I love this robust, comprehensive guidebook. I wish it had existed years earlier when my son was first diagnosed.

Daniel DeFabio
Director, Community Engagement at Global Genes

This book was created by the National Alliance for Caregiving in partnership with Global Genes to help caregivers wade through the myriad of challenges that come with caring for a loved one living with a rare disease.”
– Daniel DeFabio (dad to Lucas who had Menkes Syndrome).

Circle of Care Guidebook for Parents of Children with Rare or Serious Illnesses

“When someone we love is diagnosed with a rare disease it can feel like we’ve suddenly been dropped into an alternate universe filled with unknowns, new language, and a “before and after” that changes everything. Global Genes offers guidance, advice, and community. What so many of us want is to know that we’re not alone, that others have walked a similar path and that while each of our maps looks different, we will learn how to navigate what’s ahead. My book, Breath Taking: A Memoir of Family, Dreams, and Broken Genes, offers that reassurance.

Jessica Fein, author, rare mom

It’s like having a conversation with someone who’s been through it and figured out how to create a life of joy and meaning even in the midst of the uncertainty rare disease throws at us. ”
– Jessie Fein, rare mom, author, writer for Courageous Parents Network, Huffington Post and Psychology Today.

Watch CPN’s In the Room Talk with Jessica Fein

Lauren McCabe
Associate, Marketing & Communications at Global Genes

“When I was diagnosed with Multiple Hereditary Exostoses (MHE) as a kid in 2000, I didn’t have a support system of resources or connections. Now in my 20s, Global Genes has become a valuable resource for me to find my patient advocate voice – especially since my child may soon get the same diagnosis as me.

Global Genes, its blogs, and its storytelling resources have allowed me to read and take in other narratives of RARE parents and their families. Since coming across Global Genes, I feel more confident than ever that the experiences that me and/or my child may go through due to MHE are important to share with others in the rare disease community, and that wouldn’t be true – or even possible in some ways – if it weren’t for the vast channel of empowerment that Global Genes has built over the years!”
– Lauren McCabe (lives with MHE)

Shannon Bennett
RARE Concierge Patient Navigator at Global Genes

“When my daughter Kenzie was first diagnosed with a rare condition, I wasn’t made aware of many resources and had very little direction. Quite frankly for me, this newly diagnosed phase was a very dark period filled with bewilderment and despondency. Even now, like many people affected by a rare disease, I still struggle with finding my way when met with such unique challenges. I recently took a course called “From Surviving to Thriving,” provided by the Child Neurology Foundation, and I wish that I had known about this organization earlier in our journey. The Child Neurology Foundation supports families affected by neurologic conditions and given that a large percentage of rare, genetic disorders are neurological in nature, this is an invaluable resource for families.”

Be sure to read Shannon’s article:
To the Newly Diagnosed: Top 5 Things You Should Know

Jessica Patay, rare mom and founder of Brave Together

“Some of the guidance that can be found in my book, Becoming Brave Together, truly demonstrates how community is your lifeline. Community is everything, and community is the only way through, as Megan Loden, contributing author says. The rare disease journey can be isolating and lonely. We must find our people, who truly “get us” and understand what we are going through. Community not only provides helpful information, but more importantly, support and validation. As well as, hopefully, sparking inspiration for self-compassion and true self-care practices that preserve and protect your mindset and health for the long-haul of caregiving.”
– Jessica Patay, founder of Brave Together and host of the Brave Together podcast

When we asked Jessica for resources that would help someone new to rare disease, she had so many to offer we thought she should get her own page for them.  Please read The Beginner’s Guide to Rare Disease, Jessica’s Version here.

Here’s some additional reading (and viewing, and listening) that we’ve found helpful.

Rare Disease Caregiver Resources

A Rare Dad’s Guide to Minimizing Hospital Hassles

Courageous Parents Network (CPN) has dozens of Guides to help you. Find them here. 

And if your rare condition includes neurological impacts, CPN has mapped resources for each phase of the NeuroJourney from:
Adapting to Diagnosis, Building Strengths, Adjusting to Changes and on through to Navigating Decline

Global Genes’ Toolkit  Gene-Based Diagnosis 101: How to Successfully Navigate the Diagnostic Journeywill guide you through

• Genetic Testing: Getting to a Diagnosis,
• Diagnosis or No Diagnosis – What To Do Next?,
• Making Informed and Shared Decisions About Genetic Testing & Clinical Trials
  Plus there is a corresponding one hour webinar video on these topics.
  Diagnosis or No Diagnosis – What To Do Next?   
  Making Informed and Shared Decisions About Genetic Testing & Clinical Trials

 Books

• “Becoming Brave Together”
• “Everything No one Tells You About Parenting a Disabled Child”  by Kelly Coleman 

Podcasts

• Kara Ryska’s Special Needs Moms podcast episode 184: (released Feb 7, 2024) “Everything Nobody Tells you about Raising a Disabled Child” with Kelley Coleman
• ONCE UPON A GENE – Episode 065 – Beginner’s Guide to Rare Disease
•  ONCE UPON A GENE – Episode 094 – The 12 Commandments to guide you when you’re starting a rare disease patient advocacy group.
• Stronger Everyday #418: Start Here This is specific to Hao-Fountain syndrome but really the tips apply to most rare diseases.

Video
Coping with the Challenge of Rare Disease, With or Without a Diagnosis — 2023 RARE Advocacy Summit

Beginner’s Guide to Community Activation — RARE Advocacy Summit 2023