2021 Rare Disease Day | Sunday, February 28th

2021 Rare Disease Day

Each year our team takes part in Rare Disease Day – an international day of awareness for the over 300 million people worldwide that live with rare diseases.

About 1 in 20 people will live with a rare disease at some point in their life. Despite this, there is no cure for the majority of rare diseases and many go undiagnosed. Rare Disease Day improves knowledge amongst the general public of rare diseases while encouraging researchers and decision makers to address the needs of those living with rare diseases (from RareDiseaseDay.org).

 

View a short video below from staff at the Clinic explaining why Rare Disease Day is important to us!

 

 

 

Meet our 2021 CSC Ambassadors!

We’re excited to introduce our 2021 Clinic for Special Children ambassadors! A new program this year, our ambassadors will tell their stories and represent the Clinic in a variety of ways. We’re thankful to each family for helping us spread the word about the work of the Clinic!

 

Michael Fondacaro | 23 years old | Glutaric aciduria type 1 (GA-1)

A motivational speaker and entrepreneur, Michael is an inspiring young adult. He was diagnosed with Glutaric Acidemia type 1 (GA-1) at eight months old by a doctor who hadn’t previously seen children with GA-1 survive past age three. Michael’s family did their own research and found the Clinic. Michael now visits the Clinic about once a year where we monitor his condition. He has even participated in ongoing research for GA-1. In his free time, Michael is busy running his motivational speaking business called ‘Beyond the Chair’.

 

Kyreece Martin | 1.5 years old | Maple Syrup Urine Disease (MSUD)

Kyreece is an adorable and outgoing toddler who loves to give smiles to everyone he meets! He was diagnosed on his first day of life with Maple Syrup Urine Disease (MSUD). He recently underwent liver transplantation at the UPMC Children’s Hospital of Pittsburgh and is doing well. Kyreece visits the Clinic about every month or so for ongoing management of his MSUD. Our entire team enjoys seeing Kyreece and his family when they visit us! 

 

 

 

Eric Rodriguez | 2 years old | Glutaric aciduria type 1 (GA-1)

Eric is a “force of nature” as described by his parents. Born premature at 31 weeks, Eric received his diagnosis of GA-1 within days after his birth. After researching about GA-1, his family learned of the Clinic and had their first consultation when he was six months old. The rest is history! The Rodriguez family visits the Clinic now every three months to monitor Eric’s progress. Eric recently started day care where “he is learning to share (in theory).”