I Have a Diagnosis… Now What?

• Review your policy for coverage related to genetic conditions and out-of-network specialists.

• Confirm whether your plan covers necessary imaging (e.g., MRI, CT, echocardiograms).

• Ask your healthcare team if you need pre-authorization before scheduling procedures.

• If coverage is denied, request that your doctor or genetic counselor provide a Letter of Medical Necessity—these letters often help with appeals for tests, imaging, or procedures.

• The National Organization for Rare Disorders (NORD®) has a program is designed to enhance health coverage literacy called Claim Your Care. Explore their Insurance Navigation Guides.

• If possible, apply for life insurance before receiving an official LDS diagnosis, as it can affect eligibility or premiums.

• Some insurers may still offer policies, though rates may vary.

• Review policy details carefully and consider consulting an insurance advisor familiar with rare or hereditary conditions.

• If LDS affects your ability to work, you may qualify for disability benefits such as SSDI (Social Security Disability Insurance) or SSI (Supplemental Security Income).

  • Our Help and Resource Center can help you determine if you may qualify for benefits and connect you with guidance on how to apply.

• Explore short-term disability (for temporary recovery or medical leave) and long-term disability (for lasting or recurring limitations). These may be offered through your employer or purchased privately.

• Keep detailed medical records and documentation of symptoms, appointments, and functional limitations—these will be essential for your application.

• Track all medical expenses, travel, and co-pays—these may be tax-deductible or eligible for reimbursement.

• Consider using a Health Savings Account (HSA) or Flexible Spending Account (FSA) to set aside pre-tax funds for ongoing care.

• Ask your hospital or imaging center about financial assistance programs or charity care if you face high out-of-pocket costs.

• For larger expenses, explore patient-assistance programs through foundations, nonprofits, or your healthcare providers.

• It can be reassuring to have your financial and healthcare wishes clearly documented, especially when living with a lifelong condition like LDS. These steps help ensure your wishes are honored and your loved ones are supported.

• Making a Will: Creating a will ensures that your assets and personal wishes are handled according to your preferences. The Foundation partners with FreeWill, a no-cost online tool that helps you create a legal will in about 20 minutes. Learn more or get started at FreeWill.com.

• Advance Medical Directive (or Living Will): This document lets you outline your preferences for medical treatment and appoint someone to make healthcare decisions on your behalf if you’re unable to do so. Having an advance directive in place can provide peace of mind to both you and your loved ones.

• Begin with immediate relatives—parents, siblings, and children.

• If possible, extend the conversation to aunts, uncles, cousins, nieces, and nephews, since LDS can be inherited through multiple generations.

• Keep it simple: you don’t need to explain everything at once. Share what you know and let them know that trustworthy information and support are available.

• Recommend that relatives talk to a genetic counselor or clinical geneticist to discuss testing options.

• Once a genetic variant is identified in your family, other relatives can often have targeted testing, which is faster and less costly.

• Genetic testing can help family members identify whether they carry the same mutation and begin monitoring or preventive care early.

• Speak to your Geneticist or Genetic Counselor about resources they may have for family members. They will be able to share the exact mutation to be tested.

• Some family members may want to pursue testing right away, while others may choose not to know. This is a personal and emotional decision.

• Try to approach the topic with empathy, patience, and respect—you can share information, but you can’t make the decision for them.

• You might say something like:
  “I wanted to share this because it could affect your health. What you do with the information is completely up to you, but I wanted you to have the choice.”

• Even if a family member declines testing, let them know they can revisit the decision later. Sometimes people need time to process new information.

The Marfan Foundation has created an extensive parent toolkit, filled with important information to help you care for children with genetic aortic and vascular conditions, including the brochures for School Nurses and Teachers.

This collection of children’s books has been thoughtfully curated to support families navigating hospital visits, chronic or rare conditions, visible differences, big feelings, and resilience. While these books are not condition-specific medical guidance, they offer comfort, understanding, and language for conversations that can sometimes feel hard to start.

• Work with your cardiologist and other specialists to set a schedule for routine imaging—typically including echocardiograms, CT scans, or MRIs to monitor the aorta and blood vessels.

• Ask how often follow-up imaging is recommended for you; this may vary based on age, findings, or surgical history.

• Keep a calendar or reminder system for annual or semi-annual appointments.

• Continue adding test reports, imaging summaries, and surgical notes to your medical binder or digital health folder (see Step 1).

• Keeping organized documentation makes transitions between providers—such as from pediatric to adult care—smoother and ensures continuity.

• Discuss any new or changing symptoms with your providers promptly.

• Re-evaluate medication needs, activity restrictions, and imaging frequency as your situation evolves.

• Ask about updates to treatment guidelines or new clinical recommendations from specialists experienced in connective-tissue conditions.

• If you’re a young adult, begin planning early for the transition from pediatric to adult care. Ask your providers for referrals to adult specialists familiar with LDS.

• For parents, encourage your child to learn about their condition and take increasing ownership of their appointments and medications over time.

• Follow healthy lifestyle practices recommended by your care team—balanced diet, gentle physical activity within safe limits, and stress management.

• Don’t overlook mental and emotional health. Living with a rare condition can be challenging; counseling or support groups can help you and your family cope and thrive.

• Join one of our virtual support groups, where individuals and families affected by LDS and related conditions can connect, share experiences, and offer one another encouragement in a safe, welcoming space.

• Participate in a local Walk for Victory a powerful, connection-driven event that unites our community in support of loved ones who have been impacted by genetic aortic and vascular conditions.

• Take part in the Foundation’s annual conference (alternating between virtual and in-person), and get involved in webinars and symposia held around the U.S. and internationally.

• Experience Camp Victory for Kids and Families, a series of four specialized programs designed for people with LDS and other genetic aortic and vascular conditions.

  • Two summer camps for kids (one in Georgia and one in California) offer a chance for children ages 7–16 to enjoy classic camp activities while building confidence, independence, and lifelong friendships in a medically safe environment.

  • Two family camps, also held in Georgia and California, give families the opportunity to learn, connect, and make lasting memories together.

  • Scholarships are available to ensure cost is never a barrier to participation.

Receiving and living with an LDS diagnosis can bring a wide range of emotions—relief, fear, frustration, or uncertainty. These feelings are valid. Our body and mind are interconnected, therefore, it’s important to take care of both.

• Consider reaching out to a therapist, counselor, or social worker familiar with chronic or genetic conditions to help you navigate emotional challenges.

• Participating in a virtual support group can also be a powerful way to share experiences, gain perspective, and feel understood by others walking a similar path.

• View our other Mental Health resources here.

• Science and care recommendations for LDS continue to evolve. Stay updated by following the Loeys-Dietz Syndrome Foundation, attending educational events, and reading reputable medical updates.

• Research into Loeys-Dietz syndrome is active and expanding, leading to a better understanding of the condition and improved care over time.

• Ask your care team about new clinical guidelines, ongoing studies, or registries that you may wish to join.

When you feel ready, there are many ways to get involved and make a difference within the Loeys-Dietz community.

• Volunteer: Support awareness events, community programs, and outreach through the Foundation’s volunteer opportunities.

• Share your story: Personal stories help raise awareness, foster understanding, and inspire others who may be newly diagnosed or supporting a loved one.

• Participate in research: Research into Loeys-Dietz syndrome is ongoing and helps advance understanding, diagnosis, and treatment.

• Donate: Financial contributions help sustain the Foundation’s mission—to provide education, advocacy, research funding, and community support for individuals and families affected by LDS. Every gift, large or small, makes a lasting difference.

• Start a fundraiser: Create your own event or initiative to support awareness, education, and research.

Each act of involvement—no matter how small—helps strengthen the community, drive progress, and offer hope for the future.