Bruno is a brilliant, joyful, smart kid. He loves books, animals, rough-housing, and making new friends. He was diagnosed with Beta-mannosidosis at 2-years-old, and receives extensive speech therapy, ABA services, and ASL tutoring. Despite his daily challenges, Bruno lives his life to the fullest and smiles while doing it.

Taylor loves playing ice hockey and spends her winters snowmobiling and snowshoeing. She was diagnosed with Beta-Mannosidosis, a rare genetic disorder that affects her hearing and learning. Hearing loss and learning difficulties are her biggest daily challenges, but they don’t define her. She continues to move forward with strength, resilience, and determination every single day.

Paul was diagnosed with Beta-mannosidosis at the age of 3. He was the first patient diagnosed in France. Paul had severe hearing loss at birth and language acquisition issues. He exhibits autistic-like behavior, though he was never officially diagnosed. After attending regular preschool, Paul was placed in schools for children with special needs. He held a job tailored to his disabilities for about 10 years, but stopped in his thirties, as he could no longer perform it. He now lives on his own in an assisted living facility not far from his parents, where he participates in recreational activities and therapy. Paul has a great sense of humor, enjoys being around people, and going on walks.

Kendreona was diagnosed with Beta-mannosidosis at the age of 7, after white matter changes were found in her brain. Kendreona’s symptoms include leukoencephalopathy, optic nerve damage, moderate hearing loss, intellectual disability, and behavioral issues. Beta-mannosidosis has dramatically impacted her family’s lives, including job resignation and relocation to meet Kendreona medical needs. Kendreona loves being outdoors, dancing, and riding the school bus. She continues to find a way to smile though her mental and physical challenges, laugh, and love her life.

Marco was diagnosed with Beta-mannosidosis at 7yrs old. He was born with moderate hearing loss and started wearing hearing aids at 3 months old. He was diagnosed with ADHD and low cognitive function in 2023. Marco speech is delayed and receives education assistance at school. Despite all his challenges, Marco is an adorable kid that lives life to the fullest. He loves going camping, cars, bats and playing with friends. 

Dean was diagnosed at the age of 7. He passed all newborn health screens and was meeting all his milestones. Around age 6, he began expressing symptoms of hearing loss and learning disabilities. Genetic testing was recommended and in September 2022, Dean was diagnosed with Beta-mannosidosis. Dean requires hearing aids and receives education assistance in school. Despite his disabilities, Dean is active. He loves Karate, baseball, and hopes to become a cruise ship captain when he grows up.

Skylar was diagnosed with Beta-mannosidosis one day before her 1st birthday. Over the years, Skylar has lost her hearing, and ability to eat. Skylar has been diagnosed with autism, optic nerve atrophy as well as leukoensepholopathy (changes to the white matter of her brain). Despite these challenges, Skylar is eager to learn and grow. Her smile can light up any room and her joy is contagious. Skylar’s sign name means “brave,” because she does more than just endure, she is a fighter.

Oliver was diagnosed with Beta-mannosidosis at the age of 4. He was the first patient diagnosed in the U.S. and underwent an experimental bone marrow transplant at the age of 4, the first in medical history for Beta-mannosidosis. Despite a successful transplant, Oliver symptoms continue to progress. He is now considered blind, experiences chronic pain, has difficulty swallowing, and has lost his ability to walk without adaptive equipment. Despite his challenges, Oliver loves his life. He has a wonderful sense of humor and a kind heart. He works hard in school, loves to travel, play basketball, and dreams of working for the LA Lakers one day.