Rundown on a Rare Disease

Today was a lucky day.

I found a four-leafed clover.

Our garden was a farm paddock before they put a road and houses here, and if we don’t keep the lawn under control it swiftly reverts to type and the clover runs rampant. It’s the first time I found a four-leafed clover – despite hunting for one every summer when I was a child.

Back then, I would have made a wish if I’d ever found one. (Or was that if a ladybird landed on you? Obviously yesterday was a lucky day too, as I had a ladybird land on me and crawl up my arm.)

rundownpin 3Now, I had to google to find out why
four-leaved clover
are considered lucky.

The obvious reason is that they are rare.
1 clover in 10,000 is a four-leafer, apparently, although one study suggests
it’s nearer 1 in 5,000.
Still rare though. 

So today was a lucky day.

There’s another lucky day coming up very soon – 29th February  It is rare too – once every four years, which means 1 day in 1460 is a leap day.
People born on a leap day are rare –
1 in 1,461 people are leaplings.

But rare doesn’t always mean lucky.

29th February is also International Rare Disease Day.

For people living with rare diseases, rare can be a whole load of bad luck. Many rare diseases (and there are about 7,000 you could be landed with) turn people’s lives inside out and upside down and leave them in difficult, straitened, isolated circumstances.

The US defines a rare disease as any condition that affects less than 200,000 people – or 1 in 1,500. Ironically, this is just about the same number of people born on 29th February – and I know which ratio I would rather be part of.

Every year, the last day of February is International Rare Diseases Day. Which means this year it falls on the 29th – I’m pretty sure that’s exactly why NORD selected the last day of February as their awareness day. 29th Feb is a powerful metaphor.

The purpose of International Rare Diseases Day is an “international advocacy day to bring widespread recognition of rare diseases as a global health challenge.”

When I was a kid hunting for clover, I didn’t know I had a couple of rare diseases. Now I’ve discovered I do, I know no amount of wishing on lucky symbols is going to take them away. Instead, I’ve decided to write a post explaining my conditions to help bring about some of that recognition. Today I’m looking at trigeminal neuralgia.

Trigeminal Neuralgia

The trigeminal nerve is the main nerve in the face and head, providing sensation and some movement. Trigeminal Neuralgia is a chronic pain condition affecting the trigeminal nerve.

When the nerve is malfunctioning or damaged in some way, it misinterprets signals and reacts to even the mildest stimulus as if it were pain. And the pain is often excruciating.

Incidentally, trigeminal neuralgia is like four-leafed clover.
Rouughly 1 in 10,000 people have it, although if diagnosis-rates were more accurate, the incidence would probably be about 1 in 5,000 too. And anyone with trigeminal neuralgia makes lots of wishes – wishing for their medicine to work, wishing for a pain-free day, wishing for a cure. . .

Symptoms 

rundownpin 2Any of the following:

Episodes of severe, stabbing pain that patients often describe like lightning bolts or electric shocks.

Repeated bouts of pain lasting from seconds to minutes.

Pain attacks triggered by even mild sensations and everyday movements – such as a kiss, a light breeze, a change in temperature, chewing, swallowing, talking, smiling . . .

Episodes of repeated attacks lasting for a period of time – anything from days to years.

Episodes of constant aching and burning prior to or alongside stabbing pain.

Attacks that do not respond to over-the-counter pain killers.

Attacks that grow more frequent and severe over time.

Pain anywhere along the path of the trigeminal nerve – ear, cheek, jaw, lips, teeth, nose, eye, forehead.

Some Causes of Trigeminal Neuralgia

A compression of the nerve e.g. an artery or vein pressing against it and damaging the protective myelin – imagine an electric cable. The nerve is like the wire inside, myelin is the protective, insulation casing. When the insulation is broken, the bare wires emit electric shocks to anyone who touches them. When that bare wire is a nerve inside your head, you can’t avoid touching it.

Other conditions that cause nerve damage, such as Multiple Sclerosis, or Sjogrens Syndrome.

Injury to the trigeminal nerve, such as stroke, surgery, face and head trauma.

Often unknown.

A tumour pressing on the nerve.

People who get Trigeminal Neuralgia

Anyone.

Marginally more women than men.

More people aged over fifty than younger people.

Treatments for Trigeminal Neuralgia

I’ve written about medications for trigeminal neuralgia in Watching the Birdies.

And I’ve written about pain management techniques in Sun Hats and Self Help.

There are also a number of surgeries available for treating trigeminal neuralgia. Usually patients will be treated with medications first, as surgery is invasive and carries risks. But if medications are unsuccessful, then some patients can opt for surgery.

Surgeries and Procedures

MicroVascular Decompression (MVD)
rundownpin 1This surgery is only for patients with a compression.
A teflon pad is put between the nerve and the artery which acts as a cushion to protect the nerve. Low risk, high success rate.

Balloon Compression
A small needle goes into the trigeminal nerve through the cheek. A small balloon is inserted through the needle. The balloon is inflated against the trigeminal ganglion (the joint of the three branches of the nerve). the balloon pressing against the ganglion stops pain signals transmitting to the brain.

Glycerol Rhizotomy
A small needle is inserted into the cheek, and glycerol is inserted into the trigeminal nerve. The glycerol numbs the nerve so it can’t transmit pain signals.

Nerve Block
Anaesthetic is injected through a small needle into the face. Steroid pain medication (or another medication) is injected into the trigeminal nerve through a second needle.

Gamma Knife Radiosurgery
It’s not really a knife – probably more like Dr Who’s sonic screwdriver! The patient’s head is held steady in a clamp and the gamma knife sends beams of radiation into the skull. The radiation damages the nerves to prevent them sending pain signals.

Radiofrequency Lesioning
An electrode is inserted through the cheek. It is then heated and the heat damages the nerve to prevent it sending pain signals.

Peripheral Nerve Stimulator Device
A pulse generator is inserted in the chest. Electrodes run from the generator to the trigeminal nerve. A weak electric current through from the generator is applied through the electrodes to the trigeminal nerve. The electric current reduces the pain signals.

Acupuncture
Eight to ten needles are inserted into the face at particular acupuncture points and left there for twenty to twenty-five minutes.

Botox Injections
A needle is inserted under the skin and botox injected at trigger points on the nerve.

Iovera Injections
Nitrous oxide gas is injected through three needles into a targeted area of the trigeminal nerve. The gas forms a small ball of ice below the skin, which freezes the nerve, giving the patient temporary relief from pain.
If you have trigeminal neuralgia and medications aren’t doing the job of managing it, speak to your doctor or a neurologist to get a referral to a neurosurgeon for a proper assessment of what procedures will be best for your particular circumstances.

Life with Trigeminal Neuralgia

Some people with TN find the condition is managed successfully with medication and lifestyle changes, such as avoiding chewy foods, or with surgery.

But many more people struggle with intense pain, and the fatigue that often accompanies chronic diseases.

Some people lose their jobs, their friends, even their families due to the debilitating and disabling impact of the disease. They suffer with fatigue, anxiety and depression in addition to the physical neuralgia symptoms. Their lives become isolated and difficult.

This is the reality of many people with chronic illnesses.

It is particularly so for those with rare diseases, as it is often difficult to find other people with the same condition, or medical staff that know much about the condition. It’s so much harder to deal with anything when you feel like you are alone.

As I said before, rare doesn’t always mean lucky.

I am lucky. Not just because of ladybirds or four-leaved clovers. But because my conditions (I also have glossopharyngeal neuralgia, Sjogren’s Syndrome and Ehler’s Danlos Syndrome), certainly at present, are reasonably well managed. Pain and disability limits my life in lots of ways, but it opens it up in others, and I live a good life. And I have a strong network of love and support around me. Many people don’t.

But let’s not leave things to luck. If you know anyone with a rare disease,
even if they don’t appear to be struggling, give them a call.
Let them know you care.

And please share this post to help get “widespread recognition of rare diseases” and to join me in making 29th February less about luck and more about awareness.

Thank you.

rundownpin4


 

19 thoughts on “Rundown on a Rare Disease

  1. Thankyou for raising awareness of us TN sufferers. Plus the others rare diseases we seem to have thrown in too just for good luck!!!!!!.. ❤

    Liked by 1 person

  2. I had no idea that February 29th is rare disease day. I didn’t even know that was a thing, to be perfectly honest. It is such a great thing that you are bringing more awareness to these rare diseases, because every voice counts and helps.

    Liked by 1 person

  3. I have heard about Trigeminal Neuralgia many a times before but except that it involves chronic pain, I did not know much. Thanks for this wonderful post detailing about it. Now I can say I know.

    Liked by 1 person

  4. I honestly had little to no knowledge of trigeminal neuralgia, so I found this incredibly interesting to read. I love that you shared some information into what life with this disease would be like – we often WANT to understand but unless someone really breaks it down and describes it, it’s hard to have any concept of what their daily lives are like. We’ll never fully understand, but through information like this, we can have a glimpse at their reality.

    Liked by 1 person

    1. Thank you, Britt. It’s very hard for people to understand some things if it’s not properly explained, and as you say, most people do want to understand.

      Like

  5. Excellent post on Trigeminal Neuralgia Trish. I work in the maligned pharmaceutical industry and used to do some work on a rare disease journal and I’ve attended several rare disease conferences. These conditions are rare in fact but that doesn’t make it any better for the person lucky enough to have them. I can only hope that events like rare disease day bring awareness to people and some of these conditions.

    Liked by 1 person

    1. Thanks Scott. Every little bit of awareness helps, I think, even if it is just a patient’s family and friends knowing a bit more about their condition

      Liked by 1 person

  6. This is an excellent post Rare Disease Day and trigeminal neuralgia. I agree wholeheartedly – I’d rather be rare for being born on the 29th of February. Let’s hope that more awareness eventually brings more understanding and treatments for all rare diseases.

    Liked by 1 person

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