I Have a Diagnosis… Now What?

Receiving a diagnosis of Loeys-Dietz syndrome (LDS) can feel overwhelming, but understanding what steps to take next can help you feel more in control. This guide is designed to provide clear, actionable steps to help you navigate your diagnosis, prioritize medical care, prepare for emergencies, and address financial and family considerations.

We also recognize that there are many different paths that can lead to an LDS diagnosis. For some, it comes after a long road of uncertainty, multiple evaluations, or years of unexplained symptoms, finally bringing clarity and relief, even as new questions arise. For others, a family tragedy or unexpected medical event may have led to testing and diagnosis.

Whatever your journey has been, please know that you are not alone. The Loeys-Dietz Syndrome Division of the Marfan Foundation and its community are here to support you, connect you with resources, and help you move forward—one step at a time.

The following steps are designed to help you continue your journey with knowledge, confidence, and support from those who understand.

How to Use This Resource

This guide is organized into key areas to help you focus on the most important steps following your diagnosis and in the long term:

  1. Confirm Your Diagnosis & Educate Yourself

  2. Prioritize Specialist Care

  3. Emergency & Safety Preparedness

  4. Financial & Insurance Considerations

  5. Talking to Family & Encouraging Genetic Testing

  6. Build A Long-Term Care Plan

  7. Stay Connected & Supported

This guide is meant to be a practical starting point. You can follow it step by step or focus on the sections that are most relevant to you. Keep it as a reference, share it with family members, and use it to help guide discussions with your doctors.

 
 

Medical terminology can feel overwhelming at first. The Loeys-Dietz Syndrome Foundation offers a Glossary of Terms to help you understand the words and concepts you may encounter throughout your LDS journey.

Download the Glossary

Step 1: Confirm Your Diagnosis & Educate Yourself

  • The most reliable way to confirm LDS is through genetic testing, which looks for mutations in genes known to cause the condition.

    Sometimes, however, no mutation is found. In that case, a clinical diagnosis may still be made by a specialist based on medical features, imaging, and family history.

    • Create a folder (paper or digital) you can use to track your medical history and make sharing with new providers easier.

    • Keep copies of genetic test results, clinical reports, imaging studies, and physician notes.

    • Include blank paper to write down questions you’ve asked and answers you’ve received.

    • Staying organized makes it easier to:

      • Share accurate information with new providers

      • Track changes in your health over time

      • Feel more in control when managing appointments and decisions

  • We have several support groups you may find relevant, including one for those Newly Diagnosed, Young Adults, Teens, Children, and more.

Step 2: Prioritizing Specialist Care

Loeys-Dietz syndrome affects multiple body systems, which means it often requires care from more than one type of doctor. Seeing the right specialists is crucial for monitoring your health and preventing complications.

It’s also important to know that LDS exists on a spectrum. Even within the same family, each person may be affected differently — some may have more serious concerns with the heart and blood vessels, while others may have more challenges with bones, joints, or other systems. Because of this, the care team and the order of priority may look different for everyone.

This can feel overwhelming at first, but remember: you don’t have to see every doctor right away. Start with the most urgent specialists, then build your care team step by step. And you don’t have to figure it out alone — our Help and Resource Center is here to guide you and may even have recommendations for providers near you.

  • Why? LDS can be associated with many different allergic or inflammatory conditions.

    • Eosinophilic esophagitis (EoE) is an inflammation of the esophagus caused by an overabundance of specific white blood cells. Food allergies are thought to be one cause of the condition. Among the symptoms of eosinophilic esophagitis are heartburn, chest pain and difficulty swallowing. An Allergist/Immunologist or Gastroenterologist may treat EoE.

    What they do? Identify and manage allergic reactions or immune dysfunction. This can sometimes include recommendations regarding exposures or foods to avoid. Occasionally powerful modulators of the immune system are used to control inflammation.

  • Why? LDS affects the aorta and arteries, increasing the risk of aneurysms and dissections.

    What they do? Monitor your aorta and arteries with imaging (echocardiograms, CT scans, MRIs) and manage aneurysm risk with medications.

  • Why? If imaging shows aortic aneurysm or vascular complications, they help determine whether surgery is needed and what intervention should be used.

  • Why? LDS can affect jaw structure, palate shape, and dental crowding and the quality of tooth enamel.

    What they do? Diagnose, monitor and treat dental issues.

  • Why? LDS is a genetic condition. A geneticist can confirm the diagnosis, explain inheritance patterns, and recommend screening for family members. Geneticists also commonly consider the entire spectrum of issues for individuals with a given diagnosis, as opposed to an individual organ system.

  • Why? LDS can cause many gastrointestinal problems, including inflammation, gastroesophageal reflux (GERD), swallowing or feeding issues, chronic diarrhea or constipation, and poor weight gain.

    What they do? Diagnose, monitor and treat gastrointestinal problems.

  • Why? Many with LDS experience joint hypermobility, scoliosis, cervical spine instability, and flat feet, among other skeletal features.

    What they do? Monitor and treat bone/joint problems.

  • Why? Some individuals have cervical spine instability or aneurysms or tears in blood vessels in the central nervous system.

    What they do? Diagnose and manage cervical spine and cerebrovascular issues.

  • Why? LDS can cause eye problems such as myopia, strabismus, and retinal detachment.

    What they do? Diagnose, monitor and treat eye problems.

  • Why? LDS can cause cleft palate, recurrent sinus infections, upper respiratory and hearing issues.

    What they do? Treat airway problems, palate issues, and chronic infections.

  • Why? Some individuals with LDS have chronic pain including musculoskeletal pain

    What they do? Diagnose the source of pain and help to identify a safe and effective treatment plan.

  • Physical Therapy can make a difference in improving pain, mobility, joint stability, and activities of daily living.

  • Why? If imaging shows aneurysms or vascular complications outside of the chest, they help determine whether surgery is needed and what intervention should be used.

*We recommend prioritizing Cardiology and Genetics in your specialist care team.

You may want to review published Medical Guidelines for treating and managing Loeys-Dietz Syndrome and other aortopathies and bring copies to your specialist appointments.

Guidelines

Step 3: Emergency & Safety Preparedness

Living with Loeys-Dietz syndrome or any related genetic aortic condition means that emergency medical providers may need life-saving information about your condition in order to treat you appropriately and quickly.

It also means that family, friends, caregivers, and—if you have children—school staff should have clear, easy access to medical details and instructions that can guide your care when seconds matter.

  • While every person with Loeys-Dietz syndrome is unique, some medical complications can require urgent attention. These may include:

    • Cardiovascular emergencies, such as aortic or arterial dissection, which can cause sudden and severe chest, back, or abdominal pain.

    • Pulmonary issues, such as a spontaneous pneumothorax (collapsed lung), which may cause sharp chest pain or difficulty breathing.

    • Ocular emergencies, such as sudden vision loss or changes that may indicate retinal detachment.

    • Internal organ complications, such as rupture of a hollow organ (e.g., spleen, uterus, or bowel), which are rare but serious.

    If you experience any sudden, unexplained, or severe symptoms, call 911 or seek emergency medical care immediately.

    You can find detailed information about possible emergency situations and how they are treated here.

  • This packet was p repared by the Loeys-Dietz Syndrome Foundation and reviewed by our Professional Advisory Board.

    It includes key medical information that can help emergency providers quickly understand your condition.

    Download the Emergency Preparedness Packet

    • Download and personalize your card with critical medical details.

    • Keep it in your wallet, bag, or phone case.

    • To keep your alert card safe, and easy to access, consider using a dedicated card holder.

  • Communication with your child’s school is vital.

    The School Packet includes a sample letter, emergency information, and school-specific facts to help start a conversation with teachers, nurses, and administrators.

  • Make sure trusted contacts know where to find your emergency materials and how to share them with first responders.

  • Contact your community’s EMS or fire department to learn if they offer special registration programs for people with medical conditions (i.e. Smart911) which allow medical details to be shared with 911 dispatchers.

Step 4: Financial & Insurance Considerations

Navigating the financial side of Loeys-Dietz syndrome can feel overwhelming, especially when balancing medical needs, appointments, and family responsibilities. You’re not alone. Many people in our community have faced similar challenges. Planning ahead and learning what resources are available can help you feel more secure and supported. Financial and legal planning isn’t about expecting the worst, rather it is about giving yourself and your family stability and confidence for the future.

    • 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.

Step 5: Talking to Family & Encouraging Genetic Testing

Because Loeys-Dietz syndrome (LDS) is a genetic condition, it can be inherited from a parent or occur as a spontaneous (de novo) genetic change, meaning it began in one person and was not present in either parent.
Even if the variant started spontaneously, it can still be passed on to future generations.
Sharing this information helps loved ones understand their health risks and decide whether genetic testing or medical screening may be right for them.

    • 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.

Step 6: Build a Long-Term Care Plan

Managing Loeys-Dietz syndrome is a lifelong process. Regular monitoring and proactive communication with your care team can help detect changes early, guide treatment, and support overall well-being. Building a long-term care routine helps you stay informed, confident, and in control.

    • 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.

Step 7: Stay Connected & Supported

Living with Loeys-Dietz syndrome is not something you have to do on your own. Building a strong support network—medical, emotional, and community—can make a meaningful difference in your health and peace of mind. Staying connected helps you keep up with new research, share experiences, and find encouragement from others who truly understand.

    • 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.