Brittle bone disease: what can you do to ease your daily life?

“Lobstein’s disease“, “Porak and Durante’s disease”, “Osteogenesis imperfecta”…
These are all terms used to describe the disease more commonly known as “Brittle Bone Disease“.

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.

A better understanding of osteogenesis imperfecta

How does the disease appear?

Brittle bone disease is a genetic and hereditary condition.
It is therefore very often detected at an early age!

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.

Living with brittle bone disease: Lucie’s story

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.

« On 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, 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, 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…
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… 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… 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. »

In summary, osteogenesis imperfecta can result in :

• Repeated bone fractures, or fractures caused by a seemingly benign impact
• Bone deformities linked to poor fracture repair or the severity of the disease
• A growth disorder linked to deformation of the spinal column and poor bone development
• Ligament hyperlaxity leading to tendonitis
• A bluish appearance of the sclera (white of the eye)
• Deafness

Treating osteogenesis imperfecta

To date, there is no cure for glass bone disease.
However, it is possible to learn to live better with it.

The most common drug treatment for osteogenesis imperfecta is bisphosphonate. This reduces bone resorption and boosts the activity of the cells involved in bone remodelling.
Additional vitamin D3, K2 and calcium supplements may also be recommended to boost bone growth.

In the case of severe bone deformities, surgery may be considered.
Re-education and balneotherapy will also be of great help on a daily basis.

Cold: an alternative to relieve bone and ligament pain

Cold is recognised for its 3 intrinsic properties:

• Analgesic: it relieves pain!
• Anti-inflammatory: soothes inflammation and swelling.
• Vasoconstrictor: boosts blood circulation slowed down by the dilation of blood vessels.

So in the case of glass bone disease, cold could well be a major ally in relieving bone and ligament pain!

Climsom air-conditioned mattress topper: better sleep thanks to the cold

Does your pain prevent you from sleeping or wake you up at night?
Do you wake up tired and find that your day-to-day routine is even more difficult?

We have a solution to help you sleep better at night by relieving your pain!

Adjustable from 18°C to 48°C, the Climsom Personal air-conditioned mattress topper will keep you cool throughout the night.

In direct contact with your body, the mattress topper will let you benefit from the pain-relieving effect of the cold and give you a restful night’s sleep.

How it works

The Climsom Personal air-conditioned mattress topper is very easy to install and use.

All you have to do is place the mattress topper between your fitted sheet and your mattress, and connect it to the thermocontroller (the device used to select the temperature) using a flexible hose.

Then fill the thermocontroller’s reservoir with demineralised or distilled water.
This will be sent to the mattress topper through a network of silicone tubes, providing the freshness you’re looking for!
Don’t panic, these tubes are so thin you won’t feel them!

All you have to do is choose the temperature that suits you best on the thermocontroller, or by remote control.

Advantages and Climsom guarantee

• 30-day money-back guarantee
  Test the mattress topper risk-free for 30 days and return it if you’re not completely satisfied!
• Free delivery
• Customer service available Monday to Friday

Claire’s opinion, suffering from osteogenesis imperfecta

The CoolPad XL Gel cooling pillow: cold all day long

Now you know how to relieve your aches and pains with cold at night. But once you’re out of bed, how do you get cooler temperatures during the day?

Don’t have a freezer outside your home to store gel packs?
Repeatedly taking painkillers is not a good idea?
Would you like to find a natural solution that can relieve your stress and help you get around?

CoolPad XL Gel is a self-refreshing over-pillow.
So you don’t have to do a thing to enjoy its coolness and relieve your aches and pains!

Its exceptional size and weight (65 x 50 cm for 1.8kg) give it remarkable heat absorption capacity. As a result, the pillow absorbs body heat, giving off a cool, pain-relieving sensation.
When the pillow is saturated with heat, simply leave it to rest in the open air so that it regains its initial freshness.

Although it’s called an ‘over-pillow’, the CoolPad XL can be used on any part of the body!
Its large size means it can be used for wraps around the arms and legs in particular.

Practical:
– CoolPad XL Gel can be folded in 2 or 4 for easy transport.
– For extra freshness, you can place the CoolPad XL Gel in the fridge 30 minutes before use.

Fiona’s opinion, CoolPad XL Gel user to relieve her legs