Those who have never watched the film Unbreakable or Corpo Fechado in Portuguese, derived from comics and starring Samuel L Jackson and Bruce Willis, do not know the best action film ever produced on the subject. It tells the story of a man with glass-bone disease, imperfect osteogenesis and at the other extreme, an immortal and unattainable man. However, the disease is not just a fiction, it is true and unfortunately affects children and adults. Rare, it affects the structure of bones, the disease of glass bones makes them brittle and also fragile since birth or after a certain period of life. The glass bones disease can manifest in three forms:
Type 1: The most common form of the disease that manifests itself late, around 20 to 30 years of age. It starts with the simple loss of bone mass and consequently of its resistance and thus make them break easily.
Type 2: The most severe and severe form of the disease because it is congenital and the child may not be able to resist fractures still in utero and die. If the birth happens, it can be accompanied by several fractures in the bones of the whole body and would force procedures soon after birth.
Type 3: The form of the disease that causes bad bone deformities by direct fractures. The bones are curved and the individual who has the disease would end up with serious sequels due to these deformities, limiting even walking and getting around. These bone deformities also cause pain that is circumvented with extremely strong analgesia.
Type 4: Type 4 of the disease brings deformity of long bones such as arms and legs. Also a serious anomaly in the spine and vertebrae of the body.
Glass bones or imperfect stoogenesis is a congenital disease.
Imperfect osteogenesis or glass bones is a genetic disease, however in the child’s or carrier’s DNA it does not have the gene, it is acquired only in this way. It brings to the carrier the important deficiency in the production of collagen by the body and in the production of proteins that process it. This lack of collagen is what causes the extreme fragility of the bones, especially the largest ones, which should be the most resistant.
Most of the fractures of the glass bones are in the legs and arms due to falls, knocks and recurrent trauma of everyday tasks. This disease limits the child who is born with this problem and also mobilizes the entire family that surrounds it in order to make the child’s life safer and more and more “normal”. Despite all the pain and fractures, the disease also brings more complications, such as teeth and a bluish mouth, a square face, causing deafness and also in some cases more severe, it brings compression of the lungs and heart.
How to Diagnose Glass Bones Disease and Treatments
Glass bones are diagnosed in some stages, most of the time an x-ray and bone densitometry can detect the child’s bone fragility. Clinical examination can complement the diagnosis of the disease by doctors. The child may have the disease and have no sign in his DNA, and this factor is very common among those affected by the disease. It can simply have glass bones.
Unfortunately glass bone disease has no cure , but it can be treated. The treatment eases the pain and also reduces the fragility of the bones. The drug treatment for the disease is based on disodium pamidronate and zoledronic acid (biophosphanates) Both drugs are very expensive, but SUS supports the child or person with the disease, supplying the drugs . But the child with glass bones also needs to be accompanied by physical therapists, surgical interventions and constant clinical monitoring.
A technique has recently been developed in which metal plates are implanted along the bones to support the correct growth of the long bones, which are more affected by the disease of the glass bones. Surgery to place this type of plaque should be performed on children around 5, 6 up to 8 years old at the most. Surgery is not covered by the public network, so only those who have a medical insurance or conditions to pay can take advantage of this new treatment.
Life with glass bones is a life full of care, but the quality of life has improved with each passing day …
My name is Dr. Alexis Hart I am 38 years old, I am the mother of 3 beautiful children! Different ages, different phases 16 years, 12 years and 7 years. In love with motherhood since always, I found it difficult to make my dreams come true, and also some more after I was already a mother.
Since I imagined myself as a mother, in my thoughts everything seemed to be much easier and simpler than it really was, I expected to get pregnant as soon as I wished, but it wasn’t that simple. The first pregnancy was smooth, but my daughter’s birth was very troubled. Joana was born in 2002 with a weight of 2930kg and 45cm, from a very peaceful cesarean delivery but she had already been born with congenital pneumonia due to a broken bag not treated with antibiotics even before delivery.