Osteogenesis Imperfecta or OI is a medical condition where a person is born with brittle bones. OI has various degrees of severity. Victims of this impairment can easily break their bones. It does not take much for a bone to fracture. Bones seem to break without any bumps to the body. Thankfully the disorder is rare.
A cure for OI does not exist. Doctors and scientists are busy studying the causes, but the best a patient can expect is to learn to manage their condition. We do know that it is caused by a genetic flaw. The type-L collagen, which is a connective tissue, is deficient. There are eight types of OI. Type 1 is the most common form. Symptoms vary among individuals.
The characteristics of Type 1 OI is that there is insufficient amounts of collagen, but it is of a normal quality. There is a slight curvature of the spine. Patients have very loose joints. Often eyes are discolored, with the white of the eyes having a blue-gray color from veins shining through. Frequently the eyes seem to bulge out of the sockets. Hearing loss is not uncommon, especially in children. Those with Type 2 have deformed collagen but the amount of collagen is sufficient. Infants with Type 2 do not usually live for more than one year. Breathing problems are often seen because improper development of the lungs. Patients are very short in stature with very deformed spines.
With the third type, collagen is deformed but there is sufficient amounts. It is not uncommon for a baby to fracture bones while still in their mother's womb. Those with the third type have a curved spine and are also short in stature. Typically, they have a barrel chest and a triangle face that is unique to this medical impairment. Many patients with the third type have double joints or extremely loose joints. Legs and arms will have poor muscle tone. Frequently, patients grow deaf while still young. The symptoms are mild when the patient is born, but as they mature, they grow progressively worse.
Type 4 is much like Type 1, only there are frequently problems with teeth and gums. Teeth are discolored and extremely brittle. The types 5 through 8 are complex and even more rare. Some symptoms are characteristic mesh-like bones, problems with moving elbows and wrists. Some sub-types are restricted to specific local geographic areas.
The patient sometimes has physiotherapy to make muscles stronger and improve motility, although there is a risk of bone fracture. The treatments can be done in swimming pools or water tanks with cushions to help with posture. Patients should change positions frequently during the day to make sure all their muscles are being used. Scoliosis can be corrected with spinal fusion surgery.
It is common to find patients using wheelchairs, crutches, and other adaptive equipment. This gives them a high degree of freedom. Long bones can be made stronger when metal rods are surgically inserted.
You can assist efforts to to help those with Osteogenesis Imperfecta by supporting the foundations and other groups dedicated to finding solutions. While there is no cure, improvements in treatments are a huge help to those who suffer with this physical impairment.
A cure for OI does not exist. Doctors and scientists are busy studying the causes, but the best a patient can expect is to learn to manage their condition. We do know that it is caused by a genetic flaw. The type-L collagen, which is a connective tissue, is deficient. There are eight types of OI. Type 1 is the most common form. Symptoms vary among individuals.
The characteristics of Type 1 OI is that there is insufficient amounts of collagen, but it is of a normal quality. There is a slight curvature of the spine. Patients have very loose joints. Often eyes are discolored, with the white of the eyes having a blue-gray color from veins shining through. Frequently the eyes seem to bulge out of the sockets. Hearing loss is not uncommon, especially in children. Those with Type 2 have deformed collagen but the amount of collagen is sufficient. Infants with Type 2 do not usually live for more than one year. Breathing problems are often seen because improper development of the lungs. Patients are very short in stature with very deformed spines.
With the third type, collagen is deformed but there is sufficient amounts. It is not uncommon for a baby to fracture bones while still in their mother's womb. Those with the third type have a curved spine and are also short in stature. Typically, they have a barrel chest and a triangle face that is unique to this medical impairment. Many patients with the third type have double joints or extremely loose joints. Legs and arms will have poor muscle tone. Frequently, patients grow deaf while still young. The symptoms are mild when the patient is born, but as they mature, they grow progressively worse.
Type 4 is much like Type 1, only there are frequently problems with teeth and gums. Teeth are discolored and extremely brittle. The types 5 through 8 are complex and even more rare. Some symptoms are characteristic mesh-like bones, problems with moving elbows and wrists. Some sub-types are restricted to specific local geographic areas.
The patient sometimes has physiotherapy to make muscles stronger and improve motility, although there is a risk of bone fracture. The treatments can be done in swimming pools or water tanks with cushions to help with posture. Patients should change positions frequently during the day to make sure all their muscles are being used. Scoliosis can be corrected with spinal fusion surgery.
It is common to find patients using wheelchairs, crutches, and other adaptive equipment. This gives them a high degree of freedom. Long bones can be made stronger when metal rods are surgically inserted.
You can assist efforts to to help those with Osteogenesis Imperfecta by supporting the foundations and other groups dedicated to finding solutions. While there is no cure, improvements in treatments are a huge help to those who suffer with this physical impairment.
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