Sufferers of Brittle Bone Disease (sometimes called Osteogenesis Imperfecta) must endure a number of physical symptoms and difficulties throughout their life.
Brittle Bone Disease affects all races and genders equally. There is no cultural, racial, or gender-geared predisposition for the disease. There is also no cure. Because sufferers of Brittle Bone Disease struggle with weakened bones, they often suffer breaks and fractures.
This level of injury is alarming because it can eventually lead to further difficulties and issues, so it is important to discover the disorder early and develop a treatment plan.
What is Brittle Bone Disease?
The “disease” is fairly self-explanatory. While it is actually a genetic disorder, the result of the disorder is weakened and brittle bones.
While the disorder doesn’t pick favorites among races or genders, there are genetic predispositions for the disorder.
All of us have a gene within our bodies that create collagen. Collagen is the protein substance that is found in our bones that provides them with added strength. Some families pass down a mutation of this gene which causes their bodies to not produce enough collagen. As a result, Brittle Bone Disease occurs.
It should be noted that it is not necessary for both parents to have this disorder in order to pass it down to their offspring. It is also not always inherited from a parent at all. In certain individuals, the gene simply mutates on its own for reasons that are not yet understood.
Ask Yourself the Following Questions
When we are dealing with a disorder like Brittle Bone Disease, which doesn’t always present itself with rhyme or reason, we must be hyper-vigilant in our self-screening.
Fortunately, there are several warning signs of the disorder which can present us the clues we need to take charge of our bone health and seek help if we suspect we are Brittle Bone Disease sufferers. They are outlined below.
Have you suffered more than one fracture in the recent years?
Occasionally, a person has a mishap and winds up a little broken. While wearing a sling or a leg cast for several weeks is not ideal, it certainly isn’t alarming if it’s a stand-alone incident.
It becomes an issue, though, and an indicator of possible Brittle Bone Disease when the frequency of these events begins to pick up.
Look at it this way: If you’ve survived the first 25 years of your life without a break, but somehow managed to suffer two or more breaks between the ages of 25 and 30, you probably need to speak with a doctor. This is true of any age, of course, 25 and 30 are only examples.
There’s a misconception that, as a person ages, they should expect to sustain more injuries. It is true that our bodies begin to grow weaker, but that doesn’t mean you should not do everything you can to keep your body strong for as long as possible.
Always consult your physician if you notice a serious change or suspect a problem like Brittle Bone Disease may be surfacing.
Are you shrinking as you age?
This is the most commonly noticed symptom among men. If you swear you used to be six feet tall, and are suddenly shocked to find that you are only 5’10’’, you might want to schedule an appointment with your physician. Men often pride themselves on their height, so they typically notice pretty quick if they lose an inch or two in their old age.
Another sign of a shrinking frame is becoming “bird-boned.” People who notice their overall frame seems to be frailer than it used to be should also speak to their doctor about the possibility of Brittle Bone Disease.
Have you ever suffered an unexplained fracture?
Believe it or not, people sometimes break bones without even knowing they’ve done it.
For sufferers of Brittle Bone Disease, this is an all-too-common occurrence. Something as simple as stepping wrong off of your back porch or a simple slip and fall in the bathroom can lead to a seemingly gratuitous break.
If a mishap that would have previously only bruised you has suddenly shattered a bone, you are likely facing a degenerative bone issue. Also, if you ever wake up to find that a bone has broken and you can’t recall how it might have happened, trust your gut and talk to your doctor about being screened.
Are the whites of your eyes tinted blue?
Sometimes, some blue tinting in the white of your eyes doesn’t mean anything. It could just be the body’s natural response to a temporarily weakened immune system, allergies, or other short-term issues.
If the blueness remains, however, you likely want to schedule an appointment to talk about the possibility of Brittle Bone Disease.
The disorder has been known to cause the sclera of the eye (a usually invisible ring around the cornea) to tint blue. This is a response, again, to a lack of collagen.
Make sure you get checked out if you notice blueness that doesn’t go away, even if you feel like your bones are in good order.
Do your joints feel loose?
Your joints should never feel overly-stiff. We are often warned to take note if we are suffering from aches and pains when we try to move our joints or if they are too locked in place to move freely. What we are often not warned about, however, is the danger of joints that are too limber.
We sometimes call this characteristic “being double-jointed.” If you know someone that can turn their legs in a seemingly impossible direction, unhinge their arm at the shoulder, or show off any other display in contortionism, you might want to recommend they keep their eye on their bone health and suggest they research Brittle Bone Disease for themselves.
How great is your hearing?
Not all sufferers of Brittle Bone Disease will struggle with hearing loss, but it is estimated that over half do. This is because, as bones degenerate, the tissue around them also becomes more “flimsy.” This includes the ear canal.
If you are noticing that your hearing is not what it used to be, make an appointment with your doctor to get the problem checked out.
Whether you are showing early warning signs of degenerative bones and Brittle Bone Disease or you just need a good ear cleaning, it will be worth the call and the effort of going in.
What does your dentist think?
Have you broken any teeth lately? Are you suffering more cavities than usual? Are you more sensitive to hot and cold drinks than you used to be? These are all signs of your teeth breaking down.
Unless you’ve also given up brushing, odds are the teeth break down is related to degeneration in your bones.
If you’ve been seeing your dentist more often lately, ask them for their opinion. If they agree that your teeth seem to be suffering more lately than usual, you probably also need to stop in and see your regular physician to inquire about the possibility of Brittle Bone Disease.
Do you feel tired all the time?
People who suffer from Brittle Bone Disease often tire easily. This is a side effect of their bodies being weaker than they used to be.
If you find that you are needing more naps than usual, you might also want to take inventory of any other symptoms you’re struggling with and take a list in with you to see your doctor. It’s time to get to the bottom of your exhaustion.
How firm does your skin feel?
It stands to reason that, as our bones shrink, we will also notice other changes in our body.
Collagen, the same protein that your body lacks when you suffer from Brittle Bone Disease, is also responsible for the tautness of our skin.
As your bones shrink and your body shrinks, your skin won’t be able to keep up. If you find that your skin is feeling abnormally loose these days, consider calling in for an appointment.
Do you often suffer from aches and pains?
If your joints and bones seem to hurt more often than usual, take into consideration that they might just be having trouble doing the work they used to do. While this is a normal sign of aging, it should not be something that comes on rapidly.
If you are suddenly recognizing a higher level of pain in your day-to-day life, it’s time to see a doctor. Regardless of the cause, there is no sense in ignoring your body when it’s clearly telling you there’s a problem.
What to Do When You Suspect You Have Brittle Bone Disease?
If you suspect you are suffering from Brittle Bone Disease, you should contact your doctor for a physical and speak to them about your concerns in person. If necessary, make a list and log of your symptoms in the days ahead of the appointment. We often forget important things when we are sitting in the clinic.
Your doctor will likely make a referral for you to visit with a rheumatologist to conduct more in-depth testing to determine whether your bones really are deteriorating as a result of Brittle Bone Disease or if there is another underlying problem. The important thing to remember, though, is to relax and take your doctor’s recommendations as they come. Treatment and relief are right around the corner!