Download the resource as a PDF in English<\/a><\/p>\n Download the resource as a PDF in Dutch<\/a><\/p>\n Download the resource as a PDF in French<\/a><\/p>\n Download the resource as a PDF in Spanish<\/a><\/p>\n This guide covers the steps from genetic diagnosis to finding resources and potential treatments for rare genetic neurodevelopmental disorders. It is designed to help caregivers and families navigate the complicated world of rare diseases.<\/span><\/p>\n Knowing the cause of your child\u2019s 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 \u2013 sometimes conflicting \u2013 about a new diagnosis. It is important to remember that there is no right or wrong way to respond, and we all adjust to information differently.<\/span><\/p>\n Here are suggestions from the Simons Searchlight<\/span> genetic counselors to help you begin to adjust to your or your family member\u2019s diagnosis:<\/span><\/p>\n You may have received your genetic result from a medical geneticist or genetic counselor. If you have questions about your genetic diagnosis, you can find a genetic counselor in the U.S. or Canada at <\/span>NSGC.org<\/span><\/a>. You can also meet with one of the Simons Searchlight<\/span> Board Certified Genetic Counselors. This is a free resource for families to better understand their genetic report findings and discuss complicated concepts and ideas. It is important to note that our team will not be able to provide specific medical advice.<\/span><\/p>\n Parents or caregivers may find it beneficial to connect with others in their rare genetic community. Patient advocacy groups and online communities can provide support and access to other families that are facing similar journeys.<\/span><\/p>\n Families may seek out reliable sources of information, such as reputable websites, books, or conferences, to better understand the disorder, its characteristics, and available resources.<\/span><\/p>\n The patient advocacy organizations listed below are additional resources that support the rare disease community (this is not an exhaustive list):<\/span><\/p>\n USA<\/strong><\/p>\n EUROPE<\/strong><\/p>\n Families and individuals who have rare genetic conditions have the ability to contribute to meaningful research opportunities that could help develop future treatments.<\/span> In the meantime, you can access services that can greatly benefit overall development and well-being. Available resources will depend on where you live but may include early intervention, educational support, developmental programs, speech therapy, occupational therapy, physical therapy, and behavioral therapy. Make sure that you are accessing all the services that your loved one needs from your local government, school, or health care system. Reach out to local providers to learn more about what is available.<\/span><\/p>\n A local doctor may be able to evaluate your loved one’s needs and recommend services like therapy, educational support, adaptive skill training, and assistive equipment that could help them thrive. While caring for someone with a rare disease is challenging, you have the power to improve their quality of life and advance research through your participation.<\/span><\/p>\n Connecting with others through Facebook groups, WhatsApp, or patient advocacy communities is vitally important to find other families like yours.\u00a0<\/span><\/p>\n Patient advocacy organizations<\/strong> are instrumental in providing vital information, resources and a supportive community for families navigating rare genetic neurodevelopmental disorders. Simons Searchlight<\/span> collaborates closely with over fifty organizations, ranging from formal non-profits to active Facebook groups. Their continuous support is essential in expanding and connecting genetic communities, making a lasting impact on research programs including Simons Searchlight<\/span>. We extend our gratitude to these organizations, their leaders, board members, and dedicated volunteers, as their unwavering support strengthens Simons Searchlight<\/span>’s mission.<\/p>\n We encourage you to check the “Support Resources” on your Simons Searchlight<\/span> gene page<\/a> to find your genetic community and other places to connect.<\/strong><\/p>\n An Individualized Management Plan is a customized care plan made specially for one person’s needs. It lists treatments, therapies, and other help that should be given to someone with a certain health condition. The plan is tailored to the specific symptoms and challenges of each individual patient.<\/span><\/p>\n It’s not a one-size-fits-all plan – it’s made just for you!<\/strong><\/em><\/p>\n The goal of an Individualized Management Plan is to give each person the best care and support for their unique situation.<\/span><\/p>\n Some genetic conditions have treatment recommendations available on <\/span>GeneReviews<\/span><\/a>. <\/span>GeneReviews is a resource for doctors and includes relevant and medically actionable information created by experts. If your condition does not have a suggested guideline at this time, an individualized treatment plan is still created for a person based on their medical features. This may involve a combination of medical interventions, therapies (such as occupational, speech, or physical therapy), and educational supports that can help optimize your or your child\u2019s development and quality of life.<\/span><\/p>\n Work closely with your doctor and other specialists to create a care plan tailored to you or your dependent’s symptoms and needs. Together you can find helpful therapies and treatments.<\/span><\/p>\n Since many conditions Simons Searchlight<\/span> studies are rare, your doctor may not have treated someone with the exact same condition before. It is common for doctors to learn along with you. They can research the medical literature and contact experts internationally who know more about the specific condition. Learning together with your doctor is common.<\/span><\/p>\n Better treatment guidelines, an understanding of the condition, and a pathway to a cure are only possible with ongoing research participation from patients. Rare disease research is hard because access to patient information is limited due to the small number of people who have each condition<\/span>.<\/span><\/p>\n Simons Searchlight<\/span>, funded by the Simons Foundation<\/span> Autism Research Initiative (SFARI<\/a>), is an online research registry for over 175 genetic disorders associated with neurodevelopmental conditions, including autism spectrum disorder. <\/span><\/p>\n Participants share detailed medical and developmental information through online surveys<\/span> and can provide an optional blood sample which is used to learn about biological changes. <\/span>Our data scientists analyze the information and share de-identified data with researchers, making it easier for them to access the information they need to advance rare disease research. Simons Searchlight<\/span> developed this guide to help families throughout this process. As a long-running, trusted research program working to better understand rare genetic disorders, we provide information and opportunities for families to contribute to the growing knowledge in this field. <\/span>Learn more and register for Simons Searchlight<\/span><\/b><\/a>.<\/b><\/p>\n Visit your patient advocacy community\u2019s website for information on other potential research studies or clinical trials.<\/span><\/p>\n 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. Listed below are some online resources that you can use to find ongoing clinical trials.<\/span><\/p>\n![\"\"](\"https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2023\/09\/11093004\/Screenshot-2023-09-11-at-1.29.53-PM-e1694455217959-284x300.png\")
<\/a><\/p>\n
\nOverview<\/strong><\/h3>\n
\n
STEP 1: Steps After Getting a Genetic Diagnosis<\/strong><\/h2>\n
![\"\"](\"https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2023\/09\/11093340\/Screenshot-2023-09-11-at-1.33.11-PM-300x174.png\")
Your Genetic Diagnosis<\/strong><\/h3>\nSTEP 2: Where to Start<\/strong><\/h2>\n
You Are Not Alone<\/strong><\/h3>\n
![\"\"](\"https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2023\/05\/18092145\/PEOPLE_man-girl-step-hearts-300x300.png\")
<\/strong><\/h4>\n\n
Education and Information<\/strong><\/h3>\n
\n
\n
Therapy and Interventions<\/strong><\/h3>\n
![\"\"](\"https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2023\/05\/18091812\/PEOPLE_woman-adult-office-1-300x300.png\")
<\/p>\n![\"\"](\"https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2023\/09\/11092228\/DESIGN_ELEMENTS_lt-blue-shape-blue-hole-150x150.png\")
<\/i><\/b>\u201cWe hope that with Simons Searchlight<\/span>, we can really help families understand and use that genetic diagnosis to empower their child and to empower themselves.\u201d <\/em><\/strong>– Jamie Atondo and Rebecca Smith, Simons Searchlight<\/span> Genetic Counselors<\/span><\/em><\/p>\n<\/h3>\n
STEP 3: Creating a Support Network<\/strong><\/h2>\n
Medical Professionals<\/strong><\/h3>\n
![\"\"](\"https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2023\/04\/17111921\/PEOPLE_scientists-globe-300x300.png\")
Collaborating with a team of medical professionals, including medical geneticists or primary care providers, specialists for medical conditions, and therapists, can provide comprehensive care and guidance for your or your child’s specific needs.<\/span><\/p>\n\n
Financial Assistance<\/strong><\/h3>\n
![\"\"](\"https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2023\/09\/11092211\/PEOPLE_family-finance-300x300.png\")
Exploring financial resources, such as insurance coverage, government programs, grants, or foundations dedicated to rare genetic disorders, can help alleviate the financial burden associated with medical expenses and therapies. Need more help? In the U.S., you can request a social worker to assist you with applying for financial assistance programs based on your family’s hospital and state. Explore more U.S.-based financial resources below (we hope to add more international resources in the future):<\/span><\/p>\n\n
Genetic Community Resources<\/strong><\/h3>\n
![\"\"](\"https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2023\/09\/11092221\/OBJECTS_connect-people-and-social-300x300.png\")
<\/p>\nSTEP 4: Developing a Personalized Medical Care Plan<\/strong><\/h2>\n
Individualized Management Plan<\/strong><\/h3>\n
![\"\"](\"https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2023\/09\/11094705\/Screenshot-2023-09-11-at-1.46.43-PM-300x290.png\")
<\/p>\nCollaboration with Local and International Specialists<\/strong><\/h3>\n
Accessing Medical Records<\/strong><\/h3>\n
![\"\"](\"https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2023\/09\/11094844\/Screenshot-2023-09-11-at-1.48.10-PM-300x224.png\")
Rare diseases can be hard to diagnose and even harder to treat and manage. Over the years, people who have genetic conditions may see many primary care doctors, case managers, and specialists at different hospitals. Keeping track of medical records can be a challenge, even for the most organized people. There are ways to create and maintain a personal medical file. Some people like paper files and others prefer electronic files or a combination of both. Choose whatever works best for you. The most important thing is that the records are easy to access and are up to date.<\/span><\/p>\n\n
<\/i><\/b>\u201cThe team at Simons Searchlight<\/span> guides every family with care and compassion. We strive for our work to transform sparse understanding into meaningful insights that make a real difference.” <\/em><\/strong>– Cora Taylor, Ph.D., Simons Searchlight<\/span> Principal Investigator<\/em><\/p>\n<\/h3>\n
STEP 5: Get Involved in Research<\/strong><\/h2>\n
![\"\"](\"https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2023\/09\/11092155\/PEOPLE_woman-loves-microscope.png-300x300.png\")
<\/span><\/p>\n