Infantile Osteopetrosis, what a mouth full! Many people have confused it with Osteoporosis and while they sound similar and are both related to the bones, they could not be more different.
Infantile Osteopetrosis, literally 'stone bone', also known as marble bone disease or Albers-Schönberg disease, is an extremely rare inherited disorder whereby the bones harden, becoming very dense, starting in early infancy. In contrast, the more prevalent conditions like osteoporosis, in which the bones become less dense and brittle, or osteomalacia, in which the bones soften, occur mainly in adults. There is very little medical literature on the condition with only one case study described of a South Africa of a boy born in 1972, who died at the age of 15 months (SAMJ, 1979). A handful of South African doctors will have ever come across the condition, which leads to delayed diagnosis and enormous stress on the parents.
There are noticeable physical signs such a specific facial features and short stature of the child affected by infantile Osteopetrosis. However, what is not visible to the human eye is all the effects that the changes in the bone have, and the child is too young to tell you. The painful reality of this diagnosis is seeing a little human almost trapped inside their body; the head becomes large and heavy; the chest deformity leads to recurrent infections; eyesight, hearing and teeth are affected. The bone marrow is taken over and fails, leading to anemia and frequent blood transfusions. A child with infantile osteopetrosis suffer sleep deprivation, painful body and very limited quality of life being bed bound or being carried all the time. Their joints do not form fully and thus they are never able to walk or play as other children do.
The only effective treatment is bone marrow transplant before the bone starts to densify. This is before about 5 months of age. Finding a match is incredibly difficult and can take much longer than 5 months! In the interim the family endure multiple hospital appointments; genetics, eye clinic, ENT, neurology, orthopedics, dietician, hematology all with long waiting times and little to no answers. While waiting for transplant the management includes calcium and vitamin D and of course, palliative care – ensuring that the child’s pain and symptoms are controlled while the family are supported to cope, emotionally, physically and spiritually.
The life span is short for children with Infantile Osteopetrosis even more so if they don't get the bone marrow transplant within the first six months of life. The layers and depth of pain the family endures is difficult to describe. The constant waiting for updates and hope of new developments in the diagnosis and prognosis for the child that never come. It only gets worse from time of diagnosis until the child dies.
There are no support groups for parents or families with children with this diagnosis. Our parents can only rely on the internet for information.
As a mother of two children that died with Infantile Osteopetrosis I know it is very important to get palliative care support early on. The palliative care team can assist with pain management for the child, support to the entire family with coming to terms with the diagnosis and management and sadly, with end of life care planning.
While all children bring joy, living with a child with a rare disease is physically, emotionally and spiritually draining. It is essential to have adequate support from family and friends, from the local church, faith organisation and community. It takes a strong parent to raise a child with a rare disease and that strength requires love and support.
If you know a family raising a child with a rare disease or life limiting illness, find out how you can support them. Reach out and an offer a listening ear to show them that they are not alone.
For further advice on the do’s and don’ts of supporting someone facing trauma please click here.
For further information on rare diseases click here.
Umduduzi means ‘the Comforter’ in Isizulu. As a donor funded NPO they provide palliative care to children with life-threatening and life-limiting illnesses in KZN, South Africa. Click here to support their work.
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