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.

The following 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 caring for a child with a similar condition.
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Finding Support

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

  • The Genetic and Rare Diseases Information Center (GARD)
  • The National Organization for Rare Disorders (NORD)
  • European Rare Disease Organization (EURORDIS)
  • Genetic Alliance
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Social Media in the Rare Disease Community

Social Media has had a huge impact on how information is shared in the rare disease community. Following a diagnosis, patients and families turn to social media to connect, share stories, and provide resources and support to similarly affected individuals 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 on topics important to the rare disease community and try to educate and share best practices. They also host a series of RARE webinars and podcasts.

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Connecting to Research

Rare disease research is hard because access to patient information is limited due to so few people with 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.

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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 generated by Global Genes aimed 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. For more information visit here.
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Additional Resources

Future Planning and Housing resources:

  • The ARC: 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: a non-profit organization that pairs teen volunteers with children, teens, and young adults with special needs for social programs.

Caregiver support:

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

Sibling Support:

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

Advocacy Organization:

  • Autism Speaks: An organization that sponsors autism research and conducts awareness and outreach activities aimed at families, government, and the community. They have a great index of resources, click “Resource Guide” on the top right-hand corner of the home page and select your state. They also have an Autism Response team that can provide assistance with local resources (ie. legal support, financial resources, provider recommendations etc.) and can be contacted at 888-288-4762.
  • Easter Seals: A non-profit organization with services including; 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.