{"id":10491,"date":"2024-10-10T14:57:28","date_gmt":"2024-10-10T13:57:28","guid":{"rendered":"https:\/\/www.climsom.com\/blog\/?p=10491"},"modified":"2025-01-14T14:18:08","modified_gmt":"2025-01-14T13:18:08","slug":"brittle-bone-disease-how-to-relieve-daily-life","status":"publish","type":"post","link":"https:\/\/www.climsom.com\/blog\/en\/brittle-bone-disease-how-to-relieve-daily-life\/","title":{"rendered":"Brittle bone disease: what can you do to ease your daily life?"},"content":{"rendered":"\n

\u201cLobstein’s disease\u201c, \u201cPorak and Durante’s disease\u201d, \u201cOsteogenesis imperfecta\u201d\u2026
These are all terms used to describe the disease more commonly known as \u201cBrittle Bone Disease\u201c.<\/p>\n\n\n\n

Classified as a rare disease, there are several types and degrees of severity of glass bone disease, with varying degrees of impact on the daily lives of those affected.<\/p>\n\n\n\n

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A better understanding of osteogenesis imperfecta<\/strong><\/h2>\n\n\n\n
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How does the disease appear?<\/h3>\n\n\n\n
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Brittle bone disease is a genetic and hereditary condition.
It is therefore very often detected at an early age!<\/p>\n\n\n\n

As the term osteogenesis imperfecta suggests, it is caused by a defect in the construction of bone tissue.
The cause? Type I collagen fibres, essential for the formation of bones, teeth, skin and ligaments, present in insufficient quantity or quality.
So, although fragility and low bone mass are major characteristics, brittle bone disease does not actually affect bones alone.<\/p>\n\n\n\n

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Living with brittle bone disease: Lucie’s story<\/h3>\n\n\n\n
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Lucie’s illness was detected at an early age.
Born with blue whites of the eyes (bluish sclera), a first fracture at the age of 10 months confirmed the diagnosis.<\/p>\n\n\n\n

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\u00ab\u00a0On a day-to-day basis, it’s not too much of a problem. I have a fairly low level of illness, so I can walk and work like everyone else without risking breaking anything (whereas some people have to live in a shell so as not to touch anything or risk breaking something)!

What’s annoying is the recurring pain in places where there have already been fractures<\/strong>, particularly when there’s a change in temperature (autumn or spring sometimes bring on pain, and the cold of winter too, I don’t know why) and above all the recurring tendonitis due to hyperlaxity<\/strong>, among other things.

On a daily basis I’m still careful about the risk of bumps and falls, but it’s becoming a reflex to move out of the way when there’s a crowd, for example\u2026
There are some things I’ll never do, for example contact sports, skiing or parachuting, even if I’d like to, these are things I can’t risk doing!

There is a treatment called AREDIA that does not cure the disease, just reduces the risk of fracture, but my sister tried it and went deaf two months later. Deafness is a symptom of the disease, but it usually comes with age. In this case, she went deaf at the age of 10, as if the treatment had speeded things up! But nothing has been proved because there haven’t been enough similar cases\u2026 So my mum and I won’t be testing it as a precaution..
As far as I know, the doctors haven’t suggested any further treatment\u2026 possibly calcium supplements!

Today, as I understand it, I’m not disabled on a daily basis like my mother and sister, for example!
Maybe later!

Otherwise, what’s a bit annoying are the repeated bruises and even large haematomas.
Because blood vessels are so fragile, without even realising it I get lots and lots of bruises and that hurts afterwards, no doubt about it, especially when you’re doing almost 70 on both legs (which is a pain in the middle of summer when you’re sunbathing too)!

The idea is that, in order not to suffer too much from fragility, I’ve started doing the kind of sport I can do: weight training in a gym under the supervision of a coach and, since I’ve developed my muscles, I have the impression that they support my joints much better and I have a little less tendonitis or pain, so I feel more solid.\u00a0\u00bb
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In summary, osteogenesis imperfecta can result in :<\/h4>\n\n\n\n