Osteogenesis Imperfecta (Brittle Bone Disease)

Statistics of OI

Statistics

● Only 1 in 10,000 to 20,000 have Osteogenesis Imperfecta worldwide

● 25,000 to 50,000 people in the United States currently have OI

● This disease affects all genders, races and ethnic groups equally; none are more prone unless prior family history

How this disease is inherited

Osteogenesis Imperfect has an autosomal dominant pattern of inheritance - only one copy of the altered gene can cause the child to inherit the disease. The probability of this disease being passed on is very high - if one of the parent has OI, it is almost guaranteed that the child will have it too.

What Gene OI Affects

Ostogenesis Imperfecta affect the COL1A1 and COL1A2 genes, which produce collagen. Different types of OI produce either too little collogen, or the collagen is made improperly. Other types of less common OI types are caused by mutations in SERPINF1, CRTAP, LEPRE1, PPIB, SERPINH1, and FKBP10 genes.

Pedigree

The images on the right are pedigrees of two families that carry/inherit Osteogenesis Imperfecta. I've observed that if one of the parents has the disease, then it is almost guarenteed that one of their children have the disease too.

Changes to Daily Routine

The day that my baby, Stella was born, was the day that my life changed. Stella had a fractured arm and ribs right when she was born - a clear indicator that she had Osteogenesis Imperferca. My partner had grown up with mild OI, and knew how to properly care for her. We were so lucky to know that she only had type I of OI, meaning it was somewhat mild. When handling the baby, I had to make sure she was not lifted around the ribs, because her ribs could fracture the easiest. I had to buy and dress Stella in clothes that were easy to put on, and where I could bend her limbs the least. I learned that fractures sometimes did not appear on x-rays, so if Stella's behavior had changed, I would treat her as if she had a fracture - even when she sometimes didn't. When she was under 6 months, she was too young to have the bone strengthening medicine.

Accomodations For Stella

As soon as Stella was old enough to walk, we bought and made her wear leg braces, so ler leg bones didn't easily fracture because of the new pressure. We covered every inch of our floor with a very plush and soft carpet, to cushion Stella's floor. We only bought chairs with cushions, and her crib/our beds were extra soft. Sometimes we would take her to the park, and we would make her wear a helmet and elbow/knee pads. We had her excerise regulary and sent her to physical therapy when she was old enough, so she stayed healthy. We started giving her bisphosphonate medications when she was around 2, to strengthen her bones. She still wears leg braces and splints to this day. We always had a wheelchair and crutches on hand. We taught her how to splint her own fractures. She got scoliosis, so we had her a wear a spine brace as well. We went to the dentist's office quite often, as her teeth were soft as well.

Medical Costs of Treatment

• Biophosphonate - $12 - $17
• Dental Crowns - $900 - $2,500
• Intramedullary rodding surgery (optional) - $120,000
• Fractured leg/arm hospital bill - $2,500
• Physical therapy - $20 - $60 per session

Total(with lowest price): $3,432 without surgery

$123,432 with surgery

Local Treatment Centers for OI

• Pediatric Bone Disorders Program Mattel Childrens Hospital UCLA Witherbee Foundation, Los Angeles, CA 90095

(310) 206-6987

• The Kaiser Regional Skeletal Dysplasia Program Oakland, CA 94611

(510)-752-5101

• UCSF (University of California San Francisco) Metabolic Bone Clinic

(415) 353-2350

• Stanford Childrens Health/Lucille Packard Children’s Hospital Stanford - Bone Health Palo Alto, CA 94304

(650) 721-1811

• Shriners Hospitals for Children — Northern California Orthopaedics, Sacramento, CA 95817

(626)-389-9300

Online Support Groups/Foundations for OI

Osteogenesis Imperfecta Foundation

(Fundraise)

(301) 947-0083 (844) 889-7579

Children's Brittle Bone Foundation

(262) 947-0724

Brittle Bone Society

(Fundraise)

(138) 220-4446

Special Schools/Programs for OI

Children with Osteogenesis Imperfecta can attend school with other children, and do not need to be put in a special school - no special program exist for this condition because it is so rare. Instead, you would need to give a care and fracture management plan to all teachers and staff at that school to keep your child safe. Inform the school that your child may miss many school days due to injuries and surgeries