Rare Genetic Disease Care at Cincinnati Children’s
Nationally Recognized Rare Disease Expertise
Rare genetic diseases require specialists who have seen many patients and understand how these conditions change over time. Our physicians have decades of experience diagnosing and managing rare disorders, including lysosomal storage diseases such as Fabry disease, Pompe disease, mucopolysaccharidoses and Gaucher disease.
Because of this experience, our team can recognize complications early and recommend treatments that may not be widely used elsewhere. Families often come to Cincinnati Children’s after struggling to find clear answers.
Innovative Treatments and Research
Our physicians helped lead clinical trials that brought treatments for several lysosomal storage diseases to FDA approval. Today, our team continues to develop and test new therapies through research studies and clinical trials.
These efforts help families access treatments that may not yet be widely available, including enzyme replacement therapy, chaperone therapy, substrate reduction therapy, and individualized repurposed medications when feasible.
Personalized Care Plans
Every rare genetic condition affects children differently. Our specialists review each child’s symptoms, medical history and genetic testing results to create a personalized care plan.
This plan may include treatment recommendations, specialist visits and monitoring for possible complications. Our goal is to help each child live as healthy and active a life as possible.
Dedicated Care Coordination
In a majority of cases, families are supported by a dedicated genetic counselor or nurse throughout care. As soon as you begin care with our program, you or your child will be paired with your counselor or nurse.
This individual becomes a long-term partner for your family. They help you understand the diagnosis, explain treatment options, identify other family members who may be at risk, and guide you through complex medical decisions.
Your genetic counselor or nurse also works closely with your child’s doctors and specialists to coordinate testing, infusions and follow-up visits. Because they know your child’s condition in detail, they can help identify concerns early and ensure your child receives the right care at the right time.
Many families work with the same individual for years, building a trusted relationship that provides continuity, education and support throughout the rare disease journey.
Holistic Rare Disease Care
Rare genetic conditions often affect several parts of the body. Our team works closely with experts across Cincinnati Children’s to monitor heart health, breathing, mobility, growth and development.
By looking at the whole person—not just one symptom—we help prevent complications and support long-term health for children and adults living with rare genetic diseases.
Convenient Access and Telehealth Options
Many families travel long distances for rare disease care. To make care easier, we try to coordinate multiple appointments during the same visit whenever possible.
Telehealth visits are also available for many follow-up conversations and questions. This helps families stay connected to their care team without always needing to travel.
