There is no doubt that living with a condition like brittle bone disease (osteogenesis imperfecta (OI)) presents its own set of unique challenges.  Yet, no challenge seems too great for a man like Sean Bacher, who, is not only an entrepreneur at heart but also has the heart to embrace such feats as test driving 4 x 4s in the middle of the Pilanesberg while following a herd of elephants.   Sean is a man who actively seeks activities to pursue that take him right out of his comfort zone which often results in what others might call ‘lucky breaks’. Yet, notwithstanding, these rewards come as a result of his willingness to put in more effort than most.

What exactly is osteogenesis imperfecta (OI) otherwise known as ‘brittle bone disease’?

Sean Bacher

Osteogenesis imperfecta (OI) or what is commonly known as “brittle bone disease” means the imperfect formation of bones.  Those with this condition have bones that tend to easily break, frequently from mild traumas and often for no apparent reason.   Multiple fractures often occur and in more serious cases can even take place in the womb.  However, less severe cases can involve few fractures over the course of a lifetime.

There are eight recognised types of osteogenesis imperfecta from type I through to type VIII which are characterised by their distinct symptoms, while certain symptoms do overlap.  More commonly, nowadays genetic factors are taken into account in making the appropriate diagnosis.

osteogenesis imperfecta

(image source:  thesun.co.uk)

Less severe types of osteogenesis imperfecta

The less severe types of osteogenesis imperfecta occur during childhood and adolescence and mainly consist of bone fractures that frequently occur due to minor trauma.  It is common for those who have mild forms of this condition to have a grey or blue tint in the white part of the eye known as the sclera.  Hearing loss may also occur during adulthood.

Other more severe forms of osteogenesis imperfecta

Often occurring due to little or no trauma, certain other more serious forms of osteogenesis imperfecta can occur prior to birth.  Other symptoms of this form of the condition include:

  • Respiratory problems
  • short stature
  • Loss of hearing
  • Blue tinted sclerae
  • A tooth condition known as dentinogenesis or dentini imperfecta
  • A fragile rib cage that is abnormally small

Osteogenesis imperfecta Type IV

While ongoing medical research and development often changes how a condition can be distinguished Sean’s condition can currently be classified as osteogenesis imperfecta Type IV with the following indications:

  • Scoliosis (curvature of the spine)
  • Blue tinted sclerae
  • Loss of hearing
  • Dentinogenesis imperfecta (dentini imperfecta)
  • Brittle bones affecting connective tissue both in the bone as well as the skin

Says Sean: “Osteogenesis imperfecta is an extremely rare disease and can occur when the gene is present in one or both parents.  In my case, I developed osteogenesis imperfecta as a result of a mutation.

I have experienced multiple fractures to various bones, around 40 or 50 or so including the tibia, fibula, femur and ribs and to date I have also had about 20 to 25 operations.  But, strangely enough, I have never experienced any fractures in the arm area and not even the doctors can explain why.

I have also had numerous operations using a technique known as ‘rodding’ which involves inserting a steel rod into the bone marrow to strengthen the bones.  Should the bones happen to break the rod acts as an internal splint.  This technique helps to reduce the frequency of further operations.” 

“People may think I am brittle but I am not made of glass.”

Sean explains that things are not always as they seem.  “People may think that I am brittle but I am not made of glass.”  He affirms. 

“There is a movie enitled “Glass” starring Samuel L Jackson involving someone with OI which definitely does not portray this condition in the correct light of how things actually are.  In fact, it is not based on fact at all.  I have had my share of bar fights and being pushed around, not to mention being involved in a number of car accidents yet, I am still walking.”

“I first met Roger through a mutual acquaintance roughly 18 months ago.  I mentioned to him that my left knee had been out of joint for many years and that I was afraid to put any unnecessary pressure on it.  Up until that point I had tried various knee braces but had never felt confident enough to walk without putting too much pressure on the knee.  Roger then gave me a brace that not only ensures that I am Walking Comfortably but that I am walking confidently too.”

Continues Sean: “Since then Roger and I have become quite good friends and he always asks me how I am doing and if there is anything he can do to get me walking even better.  I have since then also been working as a web developer for Roger’s website and we have a healthy respect for one another on a professional level although we often have differences of opinion.”

Jokes Sean:    “Two such hard headed individuals are bound to lock horns every now and then since we are both very determined to get our own way, even if that involves a screaming match!”

Sean’s background is in the IT industry.  He is an expert IT technician and technical journalist as well as an entrepreneur at heart who is responsible for numerous creative and business initiatives.

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