If you’re looking for drive and determination, look no further. 14-year-old Sophia Nohre is ready to tackle any obstacle in her path—and she does so relentlessly. Her swimming coach, Adam Warden, of the Courage Kenny Rehabilitation Institute, says that he has never seen someone who so exhaustively pursues her goals. In fact, Nohre recently competed at the Hartford Nationals, an adaptive sports competition, in July 2023. As reported by CBS News, she took home six separate trophies: five gold medals and one silver medal.

When Nohre was first diagnosed with osteogenesis imperfecta (OI), her family didn’t know what the future would bring. This rare genetic disease causes brittle bones that break easily. In her lifetime, Nohre has faced more than 100 broken bones and a multitude of surgeries. But no matter what happens, she is called back to the pool each and every time, sometimes within just a few weeks of her surgical procedures. 

Nohre aims to continue building her skills in the water, loving to swim long distance and butterfly. While her condition can make life hard to deal with sometimes, she is committed to never giving up and never losing her passion for life and activity. Go Sophia! 

About Osteogenesis Imperfecta (OI)

Osteogenesis imperfecta is a rare genetic disease that affects connective tissue and is characterized by fragile, easily-broken bones. There are four main forms of OI – types I, II, III, and IV. Most cases result from either COL1A1 or COL1A2 gene mutations, though the different forms are inherited in different patterns. These mutations alter the production of type 1 collagen, which plays a role in bone and connective tissue strength. Symptoms vary based on subtype:

• Type I: In this form, which is both the mildest and most common, symptoms typically begin with multiple bone fractures in childhood through puberty. People with this form may also have bluish discoloration in the whites of the eyes, hearing difficulties, scoliosis, hyper-extensible joints, and low muscle tone.
• Type II: This form is the most severe type of osteogenesis imperfecta, with life-threatening symptoms and complications appearing around birth. A low birth weight, blue sclera, malformed ribs and long bones, fragile bones, underdeveloped lungs, congestive heart failure, a small jaw, low muscle tone, and an abnormally large fontanelle are characteristics of this subtype. 
• Type III: Fractures are often present at birth. People with this form often have spinal deformities, occipital bone malformation, a barrel-shaped rib cage, blue sclera, hearing loss, and abnormally brittle teeth.
• Type IV: Fractures most often occur before puberty. People with this form often have a short stature and may have scoliosis, hearing loss, and brittle teeth. 

There are no cures for osteogenesis imperfecta. Treatment mostly relies on maintaining mobility and strength and preventing bone fractures.