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.

Supporting Rare Disease Day on the 28th of February. Awareness for rare diseases.

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.

Description of Trigeminal Neuralgia, which is a rare disease. Face pain which is burning, aching, sharp, stabbing, crushing and shocking.

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.

Rare Disease Day, 28th February. On average it takes 8 years before a patient receives a correct diagnosis.

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 Veltman, Sjogren's Syndrome.
Rare Disease Day 28th February
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

Rare Disease Day. 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, aged 13, has Cerebral Palsy.
Rare Disease Day 28th February
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.

Rare Disease Day, 28th February.
95% of rare diseases do not have an FDA approved treatment.

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 Krongold has Myotonic Dystrophy. Rare Disease Day, 28th February.
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

Rare disease day. Show your rare, show you care. Official poster from rarediseaseday.org
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 .

73 thoughts on “Why We Need to Support Rare Disease Day

      1. Ami

        No pain, it means my spinal cord became inflamed. I had to learn to sit up, stand and walk again. I also have Ataxia which makes walking difficult but I am able to walk a few feet with a walking frame. I wrote about my 9 month hospital stay, last year, on my blog and all the progress I made. I hope you’re coping as well as can be ❤

        Liked by 1 person

  1. Bobbi

    I have a rare family. My mom, both of my kid’s and myself have Ehlers Danlos syndrome. My oldest child also has Hirschsprung’s disease. My older sister has Chiari malformation, as does her oldest daughter. All 3 of my sister kids also have autism.

    Liked by 1 person

      1. Wendi Travis

        I was diagnosed with trigeminal neuralgia and genticulate neuralgia 10 years ago. I was blessed to work for an amazing doctor who came up with the diagnosis of Tic Douloureux because as I was crying about the pain, my face was in complete spasm. Many changed medications and a brain surgery have gotten me through but at 47 its hard to think about another 20 years of dealing with this hell. I’m divorced, my children are college age. Plan on moving this year. I’m hoping getting out of the N.Y. cold will help.

        Liked by 1 person

  2. Katie DeVere

    Hi
    My son just received a liver transplant after being listed for 3 years. My son was born with a very disease named Crigler-Najjar there are only about 150 people in the world that have this disease. It is true how hard it is living with a rare disease. We were misdiagnosed so many times. Finally researching on our own when our son got so sick we found a wonderful life saving place, Clinic for Special Children, in Strasburg Pa. They teamed together medically with Pittsburgh at UPMC Childrens Hospital and they performed our sons transplant just 4 months ago! Our story is very long as you have probably experienced yourself. But don’t give up there is help out there! Just have to keep researching and never stop because you deserve respect and to be listened to by the Medical community and you will find help!! Bless you All love Katie

    Liked by 1 person

    1. So sorry to hear about your son, I hope he is doing well since receiving the liver transplant. Getting a diagnosis can be so difficult and patients do need to research so much. Best wishes.

      Like

      1. Lindsay Rae

        I did not know about Rare Disease Day. This was a very interesting post, and definitely deserving of more awareness! It must be so difficult to live with rare conditions that can take years to diagnose. I can see why the spread of awareness is so important for these situations. I will be sharing this post on twitter.

        Liked by 1 person

  3. Alessandra Hey

    My partner has trigeminal neuralgia, has been on a cocktail of meds that haven’t worked and 3 operations, and she’s still in pain. The first 6 months were horrendous, she couldn’t sleep, eat,drink, shower or talk. I have to decipher sign language and grunts as to what she wanted. I felt/feel useless because I wish I could take it away from her because not only does she have TN she also has TMJ on the same side. They don’t call this the suicide disease for nothing I can assure you.

    Like

    1. I’m very sorry that your partner has trigeminal neuralgia. It can be difficult to find the right meds or treatment. Don’t give up hope though. There are many meds out there, and research is always being done.

      Like

  4. It is terrible how little is done with these rare diseases. Often times pharma may not put money towards these conditions because they affect a small population. The flip side is that many of the medications to treat these conditions are expensive. It’s important that people support Rare Disease Day and keep shedding light on some of these terrible conditions.

    Liked by 1 person

  5. lforsythe7040

    It is very important for these rare diseases to become better known. The FDA has a program for drugs to treat rare diseases. It’s designed to help motivate manufacturers to research and produce new drugs to treat these conditions even though they will only help a small group of people. However, there is still a large financial requirement to develop these treatments.

    Liked by 1 person

  6. My grandmother died of Sjogren’s. It was a really long painful death and it took decades to figure out which auto-immune disease it was. Now my mom an aunt have auto-immune diseases and finding support is really hard for them. They are still trying to diagnose my mother. She has been trying to get a diagnosis for 10 years.

    Liked by 1 person

  7. Rare Disease Day is for everyone – the general public, rare disease patients, their families, carers, healthcare professionals, researchers, companies and politicians. we do not have to be directly affected by a rare disease, everyone can get involved! thanks for reminding us about this!

    Liked by 2 people

    1. Sadly, in Trish’s situation, her symptoms were not properly managed during those 37 years.

      This is the problem with many health conditions, not just rare diseases. If a doctor cannot give a correct diagnosis, the patient is very often not given the correct treatment.

      Like

  8. Swagata Sen

    I appreciate your efforts on raising awareness on rare diseases. Many rare disease don’t have any cure, either they are genetic or autoimmune. It is really important for these patients to have a very strong support system and a network to share, care and reach out for help. I am glad to see that you are trying to create that support system for all rare disease patients.

    Liked by 2 people

  9. I’ve known three children who have neurofibromatosis, one of the rare diseases affecting children. I live in a rural area so this seems astounding to me. We definitely need to raise awareness and funding for more research to find cures for rare diseases.

    Liked by 1 person

  10. My son is fighting an undiagnosed disease at this moment! I can’t really say yet if it’s “rare” or not, but it’s been 14 months and John’s Hopkins and 14 specialists are completely stumped.
    I was diagnosed with Sjorgren’s about 25 years ago. I have managed my symptoms quite well through diet (gluten-free), running, yoga, surgical tear duct closure, and lots and lots of water intake. This is a wonderful blog with a beautiful layout that should easily attract your readers! Nicely done!

    Liked by 1 person

    1. Oh Debra, I am so sorry. It must be so worrying about your son. I’m glad you’ve been able to find ways to deal with your Sjogren’s. Thank you for your lovely words about my blog.

      Like

  11. I actually know someone with trigeminal neuralgia. I don’t think you can actually understand the depth of frustration that can be felt with having a rare disease unless you actually have one yourself. I would imagine getting people to understand what someone with a rare disease is going through is quite a struggle. Try as I might, I likely fall short in that area myself. Thank you for bringing some awareness to an issue that many find hard to understand and deal with!

    Liked by 1 person

  12. It’s hard dealing with a medical condition when you know the treatment plan. I can’t imagine not having the answers. You have so many good links and resources in this post. I’ll be happy to share this in hopes of raising awareness.

    Liked by 1 person

      1. Amy

        I have Diabetes Insipidus (Very rare
        Fewer than 20,000 US cases per year) I was diagnosed with it at age 17 after a tumor was removed from my pituitary gland. I will have it for life.

        Like

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  15. Wendi Travis

    I +was diagnosed with trigeminal neuralgia and genticulate neuralgia 10 years ago. I was blessed to work for an amazing doctor who came up with the diagnosis of Tic Douloureux because as I was crying about the pain, my face was in complete spasm. Many changed medications and a brain surgery have gotten me through but at 47 its hard to think about another 20 years of dealing with this hell. I’m divorced, my children are college age. Plan on moving this year. I’m hoping getting out of the N.Y. cold will help.

    Liked by 1 person

    1. Hi Wendi, thank you for sharing your story. Those neuralgias are terrible to live with. Cold weather can have an impact on the pain, so hopefully a move will help you. Thanks for commenting.

      Like

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