Navigating the World of Rare Disorders

Knowing the cause of your child’s neurodevelopmental diagnosis can be a relief. But, a new genetic diagnosis can also be stressful, scary, and overwhelming. It is normal to have a wide range of emotions about a new diagnosis. It is important to remember that there is no right or wrong way to cope, and we all adjust to information differently.

Here are suggestions to help you begin to adjust to your child’s diagnosis:

• Acceptance. Focus on your child’s overall well-being, not just on their genetic condition. Your child has a unique personality, strengths, and characteristics.
• Education. Understanding the genetics of your child’s condition can be a challenge. It’s important to work with your medical team to develop a clear understanding of the new diagnosis. This will help you develop a clear course of action.
• Coping. Every parent has their own style of dealing with stress and caring for their child. It may be helpful to share your feelings with a family member, close friend, or mental health provider.
• Support. In addition to family and friends, online or in-person support groups can help you overcome feelings of isolation and allow you to connect to others that are caring for a child who has a similar condition.

Finding Support

Members of support groups and advocacy organizations know firsthand the effect that a rare genetic diagnosis can have. We at Simons Searchlight host gene-specific Facebook groups on the genes that we study. Since we recently added groups for several gene changes, you might find that you are the only person in the Facebook group. More people will join Simons Searchlight and these Facebook groups as genetic testing becomes more available and as more people get a diagnosis through SPARK. The patient advocacy organizations listed below are additional resources that support the rare disease community.

• Genetic and Rare Diseases Information Center, GARD
• National Organization for Rare Disorders, NORD
• European Rare Disease Organization, EURORDIS
• Genetic Alliance

Social Media in the Rare Disease Community

Social media has had a huge effect on how information is shared in the rare disease community. After a diagnosis, patients and families turn to social media to connect, share stories, and provide resources and support to similarly affected people from across the globe.

Global Genes, NORD, and EURORDIS use their strong online presence to promote rare disease research and advocacy through social media campaigns and events.

Global Genes has also developed a series of RARE Toolkits to educate and share best practices on topics that are important to the rare disease community. They also host a series of RARE webinars and podcasts.

Connecting to Research

Rare disease research is hard because access to patient information is limited due to the small numbers of people who have each condition. Also, many medical technologies are available through hospitals and specialists, but some of the newer treatments and therapies are only offered through research and clinical trials. If you enroll in Simons Searchlight, our team will notify you about new research studies when they become available. Listed below are some online resources that you can use to find ongoing clinical trials.

• ClinicalTrials.gov is a database that provides the public with current information on clinical research studies.
• The International Rare Disease Research Consortium connects researchers and organizations working on rare disease research as they develop new therapies and methods for diagnoses.

Staying Alert to Information

Learning everything you can about the condition is an important next step in your journey. The resources below include information on research, policy, clinical trials, and personal stories from patients and clinicians.

• RARE Daily is a news bulletin published by Global Genes that aims to eliminate the challenges of rare diseases through education and activism.
• You may want to set up a Google Alert allowing you to receive email notifications any time Google finds new results on a topic that interests you.
• You can also set up author-publication or subject alerts from PubMed to be notified when a new journal article is published on a topic of interest.

Additional Resources

Future planning and housing resources:

• The ARC is a national community-based organization, with many local chapters, for people with intellectual and developmental disabilities. It is a great source for information on policy, disability rights, and services.

Peer support and mentorship:

• The Friendship Circle is a non-profit organization that pairs teen volunteers with children, teens, and young adults who have special needs for social programs.

Caregiver support:

• Family Voices is a national organization that matches parents that have a child who has a similar disability, chronic illness, health concern. Please visit their website to find more information about your local chapter.

Sibling support:

• The Sibling Support Project is a non-profit organization that aims to support the brothers and sisters of people who have special needs. Please visit their website to find more information about your local chapter.

Advocacy organizations:

• Autism Speaks is an organization that sponsors autism research and conducts awareness and outreach activities for families, government, and the community. To access their index of resources, check their Resource Guide. They also have an Autism Response Team that can provide assistance with local resources, such as legal support, financial resources, and provider recommendations. Contact the Autism Response Team at 888-288-4762.
• The Easter Seals is a non-profit organization with services that include early intervention, inclusive childcare, medical rehabilitation and autism services for young children and their families; job training and coaching, employment placement and transportation services for adults with disabilities, including veterans; transitioning military, veterans and their families, adult day services and employment opportunities for older adults – and much more.