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Rare Diseases: Advocating For Your Child

Advocate for your child's rare diseases

How to be your child’s advocate in the doctor’s office: navigating the healthcare maze for children with rare diseases

By Lesley Holmes 

As a mother of two, including a daughter diagnosed with tuberous sclerosis complex (TSC)–a genetic disorder that causes tumors to form throughout the body's organs–I've witnessed the challenges of securing adequate care for children with rare diseases. Advocating for the health of our children, whether they have a rare disease or not, is crucial to impacting their development and health outcomes.

Until there are more pediatricians and physicians with the expertise to help kids with rare diseases, we, as parents, are responsible for ensuring they get the best medical care possible. From my experience, taking on this role can have significant, life-saving impacts. 


During a routine 20-week prenatal scan, my daughter was diagnosed with TSC based on the presence of several cardiac tumors. My husband and I faced a grim prognosis: her heart function was declining, and she was unlikely to survive birth. This situation highlighted the urgent need to advocate for ourselves and our child. Refusing to accept defeat, I embarked on extensive research and discovered a medical case report detailing the use of a specific medicine in a similar case. Urging our doctors to apply this treatment to our daughter, we received approval, and remarkably, within just ten days, her cardiac tumors had shrunk. This extraordinary outcome, resulting in the birth of our daughter at 37 weeks of pregnancy, reinforced our role as educators and advocates for our child's health, even in the face of rare disease challenges.

Receiving a diagnosis of any illness or disease in your child, especially a rare and commonly unknown one like TSC, is devastating. It brings a whirlwind of emotions, including shock, confusion, and grief, which take time to get over, especially as you're informing family and friends. It's fair to experience and process all of these emotions. Once you do, you are better able to learn about your child's prognosis and what you can do to best support them. 

Even after educating yourself on your child's diagnosis, navigating the healthcare system for a child with a rare disease can be daunting. Here are the strategies that empowered me and provided my daughter with the best path to a happy, healthy life.

  • Leverage Online Resources: The internet is a treasure trove of information. Use it to stay updated on medical advancements and bring this knowledge to your child's appointments.

  • Form Partnerships with Healthcare Providers: View your relationship with your child's doctors as a partnership. You are an integral part of the team, bringing valuable insights and information about your child's health.

  • Communicate Effectively: Prepare for appointments with questions and concerns. Take notes during discussions and ask for clarifications when needed. Effective communication is critical to ensuring your child receives the best care.

  • Organize Your Child's Health Records: Keep a detailed record of your child's medical history, treatments, test results, and medications. This information is invaluable when consulting with new specialists or in emergencies.

  • Advocate for Access to Specialists: If your child's condition requires it, be prepared to travel to see specialists. Many rare diseases are so specific that local options may not be the best option. Investigate travel assistance programs and accommodations hospitals and nonprofits offer for families receiving out-of-state care.

Parenting is tough, even harder, when those closest to you don't really know, or have an idea, what you're going through. Finding a support community and engaging with advocacy groups can help provide immense support. Organizations like the TSC Alliance and the National Organization for Rare Diseases (NORD) offer resources, connections to specialists, and a community of families navigating similar challenges. These groups can be invaluable for support, education, and advocacy. Social media platforms like Facebook also host groups for parents and families dealing with specific rare diseases. These communities are not just a source of information but also provide emotional support and camaraderie.

My daughter's diagnosis and the journey that followed taught me that advocacy is not just about fighting; it's about loving fiercely, educating oneself, and never accepting "no" when it comes to the well-being of our children. It's about partnering with healthcare providers and finding strength in a community of fellow advocates.

To new or expecting parents facing the daunting prospect of a rare disease diagnosis, you are not alone. Educate yourself, advocate tirelessly, and seek the support you need to carry you through. Together, we can ensure our children receive the care they deserve to live their fullest, healthiest lives.


Lesley Holmes is a practicing attorney and mother of two, one of whom was diagnosed with tuberous sclerosis complex (TSC), a rare disease. She serves on the TSC Alliance Board of Directors, fiercely advocating for those living with TSC and their loved ones. She resides in LA with her husband and children.

Photo by Yan Krukau

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