Frequently Asked Questions

We would love for these entries to be the definitive answers to our questions, but for now they have not been answered. At this moment, we intend to get the site going by listing the questions that come to us. If you have any questions you would like listed, or even better - answers to our many questions, please email your comments to questions (Please refer to the question by number. Thanks.)

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Copyright © 1996-2002 Patrick Birdsall

Last edit:pwb [partial] August 11, 2002

and rarely found answers...
  1. When my doctor found out my son/daughter has osteopetrosis, he had never heard of it... He looked it up and read the description to me, I think it was just one paragraph. Just how rare is this condition?

    Thankfully, this situation is a rarity now. With the information age and the world wide web, it seems that there is too much information to absorb at times. Unfortunately, there is still a lot of misinformation being circulated. Check the date of any reference material, and try to verify it with your doctor. Help your doctor keep up with the latest information by keeping up to date yourself.

    We all know it is rare, but just how many people are born with the condition is hard to tell. One article stated that in Brazil (where it is more common?) 1 in 100,000 have the condition. If anyone has a recent refernce for these statistics, please let us know.

    We do know that we have heard from people all over the globe. This condition affects people of all nations and ethnic backgrounds.

    Many are not diagnosed at birth, some are misdiagnosed. Part of the difficulty is in the fact that there are several distinctly different forms of this genetic condition, all grouped into one category "osteopetrosis"

    For a pretty good introduction into the three generally accepted forms of the condition, please try: Orthopaedics/Sports Medicine osteopetrosis - for a very good, though brief description of osteopetrosis. --http://www.mc.vanderbilt.edu/peds/pidl/ortho/osteopet.htm

    (The OMIM listing cites 36 different entries which indicate three rather than one variant of the autosomal recessive condition, and two types of the autosomal dominant condition) see: Online Mendelian Inheritance in Man

  2. The book said life expectancy is very short, but I heard about someone who was an active adult. Just how long will my child live?

    No one can answer how long a particular individual has to live. Life expectancy has so much to do with the type of OP and the severity of symptoms each person has. I have never talked to anyone who considered themselves to have a "mild" osteopetrosis condition, however.

    I personally know of around ten people with an intermediate autosomal recessive form of osteopetrosis who have passed the age of thirty. Most have chronic infections that require significant accommodation. People with the Autosomal Dominant form have no lowered life expectancy.

    With a successful bone marrow transplant, even those with Autosomal Recessive Malignant Osteoptrosis could be expected to live a long life. Unfortunately, this is all too rare at this moment in time.

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email your comments to questions (Please refer to the question by number. Thanks.)

Due to recent hacker attacks, this mailbox may be changed or removed. We thank you for your patience.

Copyright © 1996-2002 Patrick Birdsall