Resources for Parents of Children with Rare Conditions

Parenting any child comes with challenges. However, parents of children with undiagnosed or rare disorders can easily find themselves adrift without a compass to chart a path forward. For example, suppose your child has a condition not described in scientific literature. In that case, you can find yourself in an information desert, grasping for anything to help you navigate your journey to ensure the best for your child.

It can also be isolating. Parents caring for a child with a rare or undiagnosed condition don’t feel the solidarity experienced on awareness days or connect with people wearing disease-related ribbons and plastic bracelets. In addition, they rarely feel connected to other families due to research protocols that keep scientific findings quiet until they’re published and health privacy laws that prevent genetics labs from connecting families with the same condition.

The good news is that you’re not alone. Fortunately, multiple resources offer ways to connect, information to educate, and advocacy tools. Of course, everyone’s situation is different, so what works for one person may not work for everyone. Hopefully, you can find something helpful for your situation.

Websites

Several websites offer credible information for parents. For example, some sites can connect parents with up-to-date research information, others make it possible to connect with others through voluntary registries, and some sites enable parents to get aligned with advocacy issues.

• Information
  • TGen Center for Rare Childhood Disorders
    • Knowledge is power. Learn about medical breakthroughs, the latest scientific advancements, and how you can be part of this exciting work.
• National Center for Advancing Translational Sciences (GARD) 
  • Reliable, easy-to-understand information is available at GARD, a genetic and rare disease information center. Funded by the National Institutes of Health (NIH), NCATS, and the National Human Genome Research Institute (NHGRI), the website includes a special section for patients, families, and friends.
• National Organization for Rare Diseases (NORD)
  • NORD offers an online resource center for patients and families affected by rare diseases, including a library of facts sheets, infographics, free webinars, and other helpful materials to guide you through your journey.
• Registries
  • Rareshare is an online community of support where you can exchange information and find and give support.
  • Rare Connect offers a global online community to connect around issues affecting people when dealing with a rare condition.
  • MyGene2 is a grant-funded, nonprofit website where families, researchers, and clinicians can connect and share information about rare genetic conditions at no cost. 
  • GenomeConnect is an online patient registry where individuals can securely share their genetic and health information.

Social Media

Facebook and other social media platforms have groups that allow families to connect. You can also access up-to-date research and information by including the hashtag #RareDiseases or be part of the conversation by following @ncats_nih_gov and @ORDR.

Publications

Various publications are available both digitally and in print, including guides and books that may offer valuable information and support.

• The Circle of Care Guidebook for Caregivers of Children With Rare and Serious Illnesses provides helpful resources and organizations that support caregivers.
• Parenting a Child with a Life-Limiting Illness is a toolkit that delves into multiple issues caregivers may encounter.
• An Ordinary Day: Kids with Rare Genetic Conditions by Karen Haberberg 
• Extraordinary! A Book for Children with Rare Diseases by Evren and Kara Ayik 
• Chromosome Kids Like Me by Annette Fournier
• Don’t Call Me Special by Pat Thomas
• Prince Noah and the School Pirates by Sikle Schnee

Advocacy

• Rare Disease Advisory Councils (RDACs)

• NORD coordinates statewide advisory boards to address the needs of rare disease patients and families by allowing stakeholders to make recommendations to state leaders on critical issues, including the need for increased awareness, diagnostic tools, and access to affordable treatments and cures.  

• Everyllifefoundation.org is dedicated to empowering patients and families to advocate for science-driven legislation and policy to advance diagnosis, treatments, and cures.

While by no means a comprehensive list of resources, we hope you find helpful information through these multiple channels that empower you to become as educated as possible on your child’s condition and get much-needed support.

Your support enables the Center to provide genomic testing for families at no charge. Your cash donation, participation in a fundraising event, gifts of stock, or securities all allow the Center to continue its groundbreaking research leading to discoveries that mean a better future for children with rare childhood conditions. Even simply sharing the message with friends, family, and associates can help provide families with knowledge and support.