Why We Need to Support Rare Disease Day

Rare Disease Day (28th of February) was first set up in 2008, with awareness events taking place in just eighteen countries. Last year, 90 countries took part.

There are well over 6000 rare diseases in existence. Some are difficult to diagnose and most are difficult to treat or, in some cases, untreatable.

Without awareness, there is very little funding for these rare conditions. And without funding, there is little research being done. Awareness ultimately leads to more medical research, better-informed doctors and greater support for patients.

What is classed as a rare disease?

In Europe, a condition is classed as rare when it affects less than 1 in 2000 people. Globally, there are approximately 350 million people affected by a rare disease.

Trigeminal neuralgia is a rare disease

In my last blog post, I wrote that trigeminal neuralgia is an invisible condition. Not only is it invisible, it is also rare.

If you’ve read my previous posts, you’ll appreciate that Trigeminal Neuralgia is extremely painful. Having constant face pain is very difficult to live with. Talking, laughing, eating, washing my face and brushing my teeth either trigger or make the pain worse. Cold weather increases the pain and a gentle breeze can feel like shards of glass hitting my face. I need to take medication every day to try to keep it under control, but the pain never goes away completely.

According to Global Genes, on average, it takes 8 years to get a correct diagnosis. However, in some cases, it takes much longer. I lived with facial pain for at least 20 years, before being given a diagnosis. That meant years of being given the wrong type of medication. It also meant years of trailing between doctors and dentists and feeling as though I was simply being a ‘complainer’. My story is not unique.
This is Trish Veltman’s story, in her words :

Trish Veltman – Sjogren’s Syndrome

Trish

Sometimes, rare diseases are so rare, even the lucky ‘owners’ don’t even know they have them. Symptoms appear to be random anomalies. Even when doctors are presented with these ‘anomalies’ they often don’t notice they are pieces of a larger medical puzzle.

This happened to me. For decades.

At 11 years old, I began experiencing weeks-long phases of extreme muscle and joint pain, swelling and stiffness from knees to hips. It caused sleepless nights, fatigue, limited mobility. Growing pains, my mother said. Nonsense, no such thing, our doctor said. It’s puberty. It’ll stop with menstruation.

He was wrong. The pain flared every time I menstruated, was overtired, or pushed myself hard in physical activity. It’ll stop when you have a baby, he said.

He was wrong. After I had a baby, the flares occurred every six months or so, during menstruation.

I turned 29. A flare struck out of the blue, and lasted months. My feet, hands and elbows joined the party. Another doctor said Arthritis. Don’t eat dairy.

He was wrong.

At 46, I experienced another flare. Allergic reaction to statins, one doctor said. Psychological, the neurologist said. They were wrong.

At 48, I was finally, correctly diagnosed by a rheumatologist. Sjogren’s Syndrome.

Why did the others all get it so wrong? Because they all failed to investigate other ‘anomalies’ that accompanied every flare – recent illness (glandular fever, tonsilitis). SICCA symptoms (dryness). Clusters of mouth ulcers. Pain in liver/ kidneys area. Swollen glands. Hoarse throat. Dysautonomia. Nerve pain in face and throat. Other neurologic complications.

The neurologist ignored relevant liver function and blood tests, and dismissed relevant symptoms.

It took 37 years to get a proper diagnosis.

Sjogren’s Syndrome is a rare disease. Long delays until diagnosis and unaware doctors are all too common.

Useful links
Sjogren’s symptoms
Neurological complications relating to Sjogren’s Syndrome
How to find Trish :
Blog – Verve, Facebook & Twitter

50% of rare diseases affect children

I have recently ‘met’ a new blogger in a chronic illness blogging group. Her daughter, Katie, who is 13, was born with cerebral palsy, although it was undiagnosed until she was four years old. Katie has started to write a blog about her life.

Katie, 13 – Cerebral Palsy (CP)

Cerebral palsy affects Katie’s balance, posture and ability to move. Her legs need to work three times harder than anyone else’s. The CP affects her muscles and bones and causes stiffness in her legs. She can’t walk more than ten steps without holding on to something. It also affects her communication, eating and sleeping.

Katie

She’s had five operations on her legs to help her walk, yet in 2018, she took part in the Great Manchester Run with her Mum. She ran 2.5km. In Katie’s words, “CP should never stop you from fulfilling your dreams. If you have supportive people around you, trust me when I say you can achieve anything!!”

Katie wanted to write a blog to bring awareness and to let other people understand about life with cerebral palsy.

What shines out to me is Katie’s smile. She has such an amazing, positive attitude and must be such an inspiration to other young cerebral palsy sufferers.

Useful Links
For information about Cerebral Palsy, visit Scope or CerebralPalsy.org.uk
How to find Katie :
Blog – Life with Cerebral Palsy & Instagram

Rare Disease Day Events

On the last day of February every year, there are Rare Disease Day events around the world to highlight the need for awareness and funding.

Leslie Krongold will be taking part in an event at her local Senate Office to advocate for research funding and has been kind enough to share her story here :

Leslie Krongold – Myotonic Dystrophy (DM)

Leslie

In my mid-30s I was diagnosed with the rare genetic disease – myotonic dystrophy (DM).

At the time my symptoms were minimal but I learned that the slowly progressive neuromuscular disorder would impact my life, and it has.

My first major symptom was fatigue so I learned better ways to manage my energy reservoir. Having no medical treatments available, I’ve practised radical self-care routines. With diet, yoga, and attitude I’ve maintained a lot of quality in my life. Now in my mid-50s, moving my body is challenging as my leg muscles have deteriorated and balance is difficult. The greatest obstacle though is respiratory health which impacts my sleep. I now require a night-time ventilator which is not an easy thing to get used to.

My diagnosis helped explain some anomalies about my family. My mother had a second child who died prematurely. Now I understand that my sibling had the more extreme form of the disease known as congenital DM. My mother died at 55 years old from brain and lung cancer. Research has now shown that people with DM have a higher incidence of certain types of cancer.

On February 28th I will join other DM patients at the offices of our California (U.S.) State Senate to advocate for research funds. Last year I produced this podcast episode for Rare Disease Day.

Useful links
Myotonic Dystrophy Foundation
How to find Leslie :
Website – Glass Half Full, Facebook & Twitter

Official poster by rarediseaseday.org

How you can get involved

There may be events near you. Check out the Rare Disease Day website. You can find details of a rare disease organisation near you by clicking here.

But you don’t need to leave your house to help. Sharing posts on social media can make a huge impact and will help to highlight some of these conditions. When you share, use the hashtags #RareDiseaseDay and #ShowYourRare

Are you rare? Do you, or does someone you know, have a rare disease? Please leave me a comment in the box below. And please do share my post – thank you.

Please click this link to my next post where l highlight a few people, who, despite their own conditions, are trying to help others in a similar position either by blogging about their rare disease, running support & awareness groups or both.

Thank you to Trish, Katie and Leslie for sharing their stories here, on Despite Pain.

Facts and statistics from Rare Disease Day and Global Genes .