CLAUDIO’S STORY

My name is Claudio, and I am 19 years old. When I was born, I was diagnosed with Septo-Optic Dysplasia (SOD), a rare congenital brain disorder, along with panhypopituitarism, a rare condition in which the pituitary gland stops producing some of its essential hormones. These conditions can be treated with hormone replacement therapy. The doctors at San Raffaele Hospital, one of the best medical centers in Italy, were quick to diagnose these conditions and provide me with the necessary treatments. As a young patient representative for Endo-ERN, I help raise awareness about rare endocrine disorders and support other patients. This role has allowed me to meet other people with rare diseases across Europe.

As a child, I did not fully understand the complexity of my condition, but regular medical visits and treatments became part of my daily life. Thanks to the constant support of my family, along with the clarity and availability of my doctors, I learned to face these challenges with confidence rather than fear.

At the moment, I am experiencing the transition from pediatric to adult care. With the support of Endo-ERN and the doctors at San Raffaele Hospital, I am approaching this important step with greater awareness and knowledge. Thanks to Endo-ERN, I will have the opportunity to share my experience at a workshop that will take place on February 27 and 28 in Ghent, Belgium, focused on the transition from pediatric to adult care. Awareness encourages research and innovation, improving treatments and quality of life for patients with rare conditions. Living with a rare disease has taught me resilience, responsibility, and empathy for others facing similar difficulties. I now try to use my experience to support other patients and their parents, sharing what I have learned to help them face similar challenges.

Having a rare disease does not significantly impact my daily life; I continue to pursue my studies and to achieve my personal goals, making my dreams come true. There have been times when managing my condition was difficult, but I have learned that challenges are meant to be faced and can be overcome with determination and courage.

Having a rare disease has made me see life differently. I have learned to appreciate things that many people take for granted, such as good health, the support of my family, and the strength to keep going despite the challenges. These small but important things have become true blessings that I now hold dear.

I hope my story can inspire and encourage others to do the same. Sharing stories about rare diseases empowers patients and their families, showing them that they are not alone. By sharing our stories, we can inspire research, promote collaboration, and make a real difference for people living with rare diseases.