“Having a brother with a rare condition has changed who I am. My family has a big heart because of my brother.”
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Join David Rintell, Head of Patient Advocacy at BridgeBio and Mandy Rohrig, Director of Patient Advocacy at BridgeBio Gene Therapy as they recognize Rare Disease Day, February 29, 2024, by speaking with siblings of people living with rare conditions. It is often said that a rare condition or disease impacts the entire family, and this is particularly true for rare siblings. Due to the extra care needed by a child living with a rare condition, rare siblings may sometimes miss out on time or attention from their parents. Rare siblings often contribute to caregiving in their families. Though being a rare sibling can be challenging, rare siblings are often more mature, empathic, and aware of what others around them are going through than typical children their age.

Marina, a nineteen-year-old, is a sister to Sammy, who is living with Limb-girdle Muscular Dystrophy Type 2I/R9 (LGMD2I/R9), a rare condition caused by changes in the FKRP gene and is associated with weakness and wasting of arm and leg muscles. In her conversation with David and Mandy, Marina describes what it was like to first learn about LGMD2I/R9 and what it was like to watch Sammy live with a progressive muscle wasting disease. Marina speaks with love as she describes their bond as sisters and how she’s looked out for Sammy. When Sammy started going to the same high school, Marina took calls from Sammy or her teachers anytime Sammy fell or needed other assistance. Even though Marina is now miles away at college, she’s always thinking about Sammy and hoping that she’s getting help at school, if she needs it.

Michael, a thirteen-year-old, is the eldest of six siblings. Two of his brothers are living with Canavan disease, a genetic neurodegenerative disorder. Michael is wise beyond his years. He has a special ability enabling him to understand his brothers, who are non-verbal but always trying to communicate. Michael acknowledges that it is sometimes hard and there have been times when he has wanted more attention from his parents, but he also recognizes that he wouldn’t be who he is today without the challenges he’s experienced. Michael shares his personal experience that that sometimes a rare sibling might seem fine but not truly doing well.

Sydney, a nineteen-year-old, is a triplet and also the younger sister of Sean who is living with achondroplasia, the most common cause of dwarfism. Sometimes when she was younger, Sydney would get upset by the attention Sean received and she would miss her parents as they would be away supporting Sean through surgery. As she has grown up, Sydney has realized that it was necessary for her family to put extra attention and resources into supporting Sean and she is proud of who he has become. She’s inspired by his mantra, “Heart over height, 24/7.”

These rare siblings are incredibly resilient. They demonstrate that living with challenges or adversity is not only not harmful, but it is the cause for a lot of personal growth.

For additional information or resources for rare siblings visit The Courage Parents Network  https://courageousparentsnetwork.org/topics/siblings)   or the Rare Siblings Project, http://raresiblingsproject.org/)

To learn more about LGMD2I/R9 and the LGMD community visit the CureLGMD2i Foundation, https://curelgmd2i.com/about/)   LGMD Awareness Foundation, https://www.lgmd-info.org/)    and The Speak Foundation  https://thespeakfoundation.com/)