Osteogenesis Imperfecta (OI), also referred to as brittle bone disease, is a genetic bone disorder that is described by fragile bones that break easily. Other signs which may occur are – hearing impairment, short stature, loose joints, skeletal deformities, or fragile teeth.
It is the most frequent single gene defect causing bone disease.
- heart defects;
- bone deformities;
- respiratory problems;
- multiple broken bones;
- early hearing loss;
- kyphosis (an excessive outward curve of the spine);
- bowed legs and arms;
- blue sclera (bluish coloration of the whites of the eyes);
- weak teeth;
- loose joints.
In more severe forms of OI, there may be – poor muscle development in the legs and arms and a barrel-shaped chest.
It is caused by a defect in the gene which produces type 1 collagen, the most common protein in the skin and bones which provides strength and structure to the body. In addition, this protein is essential in forming teeth, ligaments, and the white outer tissue of the eyeballs.
About 10 to 15% of patients with brittle bone disease are the result of a recessive mutation. Types V and VI do not have a collagen variation, however, the genes causing them are not identified.
Heart problems, like – incorrectly working arteries and valves, occasionally occur in individuals with brittle bone disease.
Treatment usually involves help with independent living and supportive therapy to decrease disabilities and the number of fractures.
To slow down bone resorption, bisphosphonates (a group of medicines) may be given to a patient either intravenously or by mouth.
Physical exercise is beneficial in increasing weight-bearing capacity, strengthening muscles, and reducing the tendency to fracture.
Rodding, a type of surgery that involves internal splinting of the long bones by the insertion of a metal rod, is used to help people with OI.
Here Are 10 Famous People With Osteogenesis Imperfecta (Brittle Bone Disease):
#1 Atticus Shaffer
He is an American actor who is best known for voicing Edgar in the film ”Frankenweenie” (2012), as well as for portraying Brick Heck on the sitcom ”The Middle.” He also appeared in Hancock (2008).
Atticus has type IV OI.
#2 Nabil Shaban
He is a Jordanian-British writer and actor who founded ”The Graeae” – a theatre group that promotes artists with disabilities.
At the age of 3, Nabil Shaban arrived in the United Kingdom for treatment for his brittle bone disease. Nabil was to spend the next 6 years in hospital and a further 7 in a children’s home.
In 2003, Nabil Shaban made a TV documentary titled ”The Strangest Viking,” in which he explored the possibility that Ivar the Boneless, a Viking chieftain, may have had OI.
#3 Alec Cabacungan
He is an actor who has captured hearts across the United States with his famous commercials. He also appeared in Christine (2016) and was the face of Shriners Hospitals for Children.
Alec suffers from OI and has broken more than 60 bones during his lifetime.
#4 Randy Guss
He is an American drummer and musician who is best known as the drummer for the band ”Toad the Wet Sprocket.” He was also diagnosed with the disease.
#5 Michael J. Anderson
He is an American actor who is best known for his role in David Lynch’s television series Twin Peaks.
During the ’90s, Anderson made television guest-star appearances on Picket Fences, Star Trek: Deep Space Nine, and The X-Files.
Due to brittle bone disease, Michael J. Anderson grew up in a wheelchair.
#6 Melanie Watson Bernhardt
She was born on July 20, 1968, in Dana Point, USA, and is an actress who is best known for ”Diff’rent Strokes” (1978).
Melanie Watson Bernhardt is also the founder of ”Train Rite,” an organization that trains shelter dogs to serve the disabled.
#7 Quentin Kenihan
He is an Australian movie producer, scriptwriter, director, actor who at the age of seven had become famous because of the Mike Willesee documentary called ”QUENTIN.”
For the 2000 Sydney Paralympic Games, Quentin Kenihan carried the Paralympic torch down Oxford St in Sydney.
Moreover, he appeared in Mad Max: Fury Road (2015). Also, Kenihan recently released his autobiography entitled – ”Not All Superheroes Wear Capes.”
In an interview, Quentin Kenihan said – “I was born with eight broken bones and then they quickly worked out something was wrong.”
#8 Gaelynn Lea
She is an American folk violinist, singer, public speaker, and disability advocate from Minnesota who won NPR’s 2016 Tiny Desk Contest.
Due to her disease, Gaelynn developed a unique technique for the violin that involves holding the bow “like a baseball bat.”
#9 Kerry Ingram
She was born on May 26, 1999, in Slough, Berkshire, England and is best known for her role as Matilda Wormwood in Matilda the Musical and Shireen Baratheon in the ”Game of Thrones” series.
Kerry also played a small role in Tom Hooper’s film adaptation of ”Les Miserables.”
She suffers from OI and she goes into the hospital every 4 months to have periodic infusions.
#10 Michel Petrucciani
He was a French jazz pianist who, despite having arms that caused him pain, became one of the most accomplished jazz pianists of his generation.