Too many rare disorders cause patients not to find the help they need.

With hundreds of thousands of rare disorders it is not surprising that so many doctors have never heard of Chiari or syringomyelia. But where does that leave the patients? In many cases, they must become their own advocate, searching the Internet for information. Unfortunately not all information is accurate so you have to try and qualify what you do find.

It was not until the advent of MRI that Chiari and syringomyelia came out of the dark ages. They were both discovered hundreds of year ago but little research occurred and even today what is know is mostly theory. The other issue you may face is having multiple disorders some of which may be related and not. Or the large variety of symptoms that effects people in multiple ways also make one wonder where to look next. These are very complex disorders in some cases at least and unless you are lucky enough to have one of the specialist close enough for regular visit your doctor may become as frustrated as you are.

Unfortunately there are cases that even the specialist has a very difficult time managing. If you have been on any of the many networking sites, you have seen this first-hand. Patients you have surgery after surgery trying to find relief. Where are the answers?

The obviously answer is research. But research takes years and years and millions if not billions of dollars. ASAP is working today and every day to make your life better by bring together doctors who share their knowledge and experience. Developing programs that encourage peer-support. Spreading awareness so that no one has to face the battle alone. We may not have the answers but will keep searching until we do.

Giving Pain A Name

Here are some words to help when trying to describe your pain to you doctor.

Achy – if a part of your body feels achy, you feel a pain there that is continuous but not very strong
Acute- used for describing pain that is very strong and sharp
Agonizing – very painful
angry – an angry wound (cut in your skin) is very red and painful
burning – painful, and feeling as if a part of your body is touching something hot
chronic – chronic pain is serious and lasts for a long time. A serious illness or pain that lasts only for a short time is described as acute
crippling – causing a lot of pain or other health problems
dull – a dull pain is not very strong but continues for a long time
electric shock sensation – feels like electricity running through affected part of body
excruciating – causing extreme physical pain
gnawing – continuously causing you pain or worrying you
griping – a griping pain is a sharp and sudden pain in your stomach
heavy – if a part of your body feels heavy, it is not comfortable and you cannot move it easily
inflamed – a part of your body that is inflamed is swollen, red, and painful because of an infection or injury
irritated – painful, red, or swollen
itchy – if you feel itchy, you have an unpleasant feeling on your skin that makes you want to scratch it (=rub it with your nails)
painful – if part of your body is painful, you feel pain there
painful – making you feel physical pain
raging – very serious, painful, or strong
raw – if your skin is raw, it is very sore
severe – a severe pain, injury, or illness is serious and unpleasant
sharp – a sharp pain is sudden and severe
sore – painful and uncomfortable, usually as a result of an injury, infection, or too much exercise
stabbing – a stabbing pain is a sudden, very strong pain
stiff – if you are stiff, or if a part of your body is stiff, you feel pain in your muscles and cannot move easily
stinging – hitting you hard
tender – if a part of your body is tender, it has been injured and is painful when you touch it
thumping – a thumping headache (=pain in your head) is very severe
tight – if your chest or another part of your body feels tight, it feels as if it is being squeezed
torturous – causing extreme physical pain
unendurable – too unpleasant or painful to bear
vice-like – holding or squeezing you very tightly in a painful way
violent – painful and difficult to control
excruciating – causing extreme physical pain

Family History

I occasionally receive emails for the Genetic Alliance about tips that could be helpful. This one seemed worth passing on.

Do you know your family health history? Check out these cool and easy-to-use tools: the Does It Run In the Family? toolkit and the U.S. Surgeon General’s My Family Health Portrait can help you figure out who and what to ask about your family’s health history, and they provide easy ways of organizing all of the information!

Counting the years

When I came to work for ASAP almost 23 years ago, I never imagined how much this job would affect my life. One thing for sure I never expected I would still be here after all this time. Mostly becasue I thought they would find a cure and there would be no need. But as we all know that is not the case. At that time, MRI was still relatively new and the awareness of the disorders in the medical field was very limited. The thing that bothers me the most is that so many of the people I hear from are still finding that to be the case. They have a hard time finding a doctor who knows enough about the disorders or how to treat the symptoms. I have seen a hugh improvement in awareness but we still have a long way to go.