Supporting People on Rare Disease Day

It can take a lot of courage to discuss health issues with friends and family, but sometimes people put their own health in the public spotlight to help others.

Sharing Matters

When someone has a rare disease, there is often very little information and support, therefore, what these people do really matters so much to so many people. Sharing their stories matters too.

Following on from my post last week, Why We Need to Support Rare Disease Day, I’d like to support a few people who have rare diseases by sharing their stories.

Supporting people with rare diseases. Rare disease day, 28th February.

Tom Seaman – Dystonia


In 2001, I developed a painful neurological movement disorder called dystonia. The form I have is called cervical dystonia because it affects my neck, but dystonia can affect any part of the body or multiple parts. Dystonia is characterized by uncontrollable, involuntary muscle spasms and contractions, repetitive movements, twisting, and/or abnormal postures. Persistent pain is also a common feature, often quite severe. The cause in most cases is unknown and approximately 500,000 people are estimated to have dystonia in North America and over 1 million worldwide.

For the first 5 to 7 years, my symptoms were very severe. I was unable to sit or stand without pain and forceful muscle contractions that literally dropped me to my knees. I spent most of my day laying on the floor rolling around in pain. I eventually found a variety of treatments to help alleviate my symptoms to where I could be more functional.

Although my symptoms are much improved, I still suffer with pain and involuntary muscle contractions daily, so life is a delicate balance. My work as a life coach helping other people with dystonia and other health conditions, as well as blogging, speaking, and awareness activities, gives me meaning and purpose. Helping others is a great passion of mine.

Useful links
Dystonia Medical Research Foundation (DMRF)

How to find Tom
Blog – Diagnosis Dystonia 
& Tom Seaman Coaching
Facebook & Twitter
To has also written a book, Diagnosis Dystonia: Navigating the Journey, which was recognized by the Michael J Fox foundation and added to their list of suggested resources.

8 out of 10 rare diseases are caused by a faulty gene. Rare disease day, 28th February.

Jenny Jones – Familial Adenomatous Polyposis (FAP) and Short Bowel Syndrome (SBS).


FAP is a rare hereditary genetic mutation that predisposes an individual to colon cancer due to hundreds to thousands of polyps developing in the colon that will inevitably during cancerous. FAP also has higher risk for cancers within and outside of the GI tract and extracolonic manifestations such as desmoid tumors, cysts, and osteomas.

SBS causes malabsorption and malnutrition due to the removal of part or all of the colon and small intestine. Some individuals require artificial nutrition and hydration due to malabsorption. Those with SBS often have a fast GI transit time due to the removal of intestines.

Due to colon cancer developing as a result of FAP, I had my colon and part of my small intestine removed resulting in SBS. The colon removal and SBS have caused me to have difficulty absorbing nutrients resulting in vitamin and mineral deficiencies that must be monitored regularly. These deficiencies cause chronic fatigue and require multiple medications and iron infusions to help maintain appropriate levels. Due to adhesions from multiple surgeries, I have chronic pain and nausea, particularly when I eat and I experience a fast GI transit time resulting in frequent restroom access requirements. This limits my activities even with medication to help manage symptoms as I must consider my energy and pain levels and ease of access to a restroom. I also require regular monitoring of polyp development to determine if polyps elsewhere in my GI tract have started to turn cancerous.

Useful Links
Short Bowel Syndrome, FAP Voice
How to find Jenny
Blog – Life’s a Polyp, Facebook & Twitter

1 in 10 people are affected by a rare disease

Claire Saul – Cauda Equina Syndrome


I was 21, a student nurse about to take my finals, when I suddenly experienced horrendous lower back and leg pain.  Over the next days, weeks and months the pain and related symptoms got worse and worse, but back then standard treatment for back pain was 12 weeks rest and then physio referral for no improvement.  By the time I had a scan – nearly 5 months later – I had various numb areas: my lady undercarriage (urethra, perineum, vulva), inside and outside my thigh, back of my knee, back and outside of calf and the whole foot; I had footdrop and no ankle or knee reflexes; I was incontinent of urine and my bowels weren’t working!  The scan showed a completely ruptured disc for which I was rushed in the next day for an “emergency” (5 months later!!) laminectomy.  Whilst I made a pretty good recovery, one young surgeon told my now husband that it would come back to haunt me in the future.  This is all tied in with my diagnosis of Ehlers Danlos Syndrome too!

Over the following years, I had back problems constantly bubbling near the surface (including legs failing in pregnancy and 3 c/sections) but it was at age 39 the effects of cauda equina syndrome proved that young surgeon right. My back and leg pain increased with a vengeance, not responding to drugs, epidurals or full on spinal fusion surgery twice.  I was medically retired from nursing. The surgeon performing the second fusion was able to see the nerve root damage and told me that the extent meant my chronic pain was not “curable”.

Today I have chronic pain, a neuropathic bladder (meaning that I don’t feel when my bladder is full and could go all day without peeing), leg numbness and am unable to feel when my rectum is full.  The constant pain is the hardest to live with and I now have a spinal cord stimulator to help mask it. I have tried to retrain my bladder and set alarms to remind me to go to the loo, but I do also self-catheterise to stop the feeling of constantly brewing urine infections. My gut and bowels are tied to EDS, but for the lack of feeling, I do have to manually evacuate sometimes.  Lack of sensation in my foot combined with the pain has had a huge effect on my mobility, my legs can still suddenly give way and I started to use a walking stick aged 40, and now use a wheelchair.

Never a day goes by without the effects of cauda equina syndrome……but at least a queue at the ladies doesn’t trouble me.  You’ve got to look for the silver linings!

Useful Links
Cauda Equina Syndrome
How to find Claire
Blog – Pain Pals, Facebook & Twitter

350 million people are affected by a rare disease. Rare disease day, 28th February.

With so many rare diseases, it’s impossible to highlight them all. However, I do want to give this final one a mention. When researching to do this post, I came across a website called Zoe’s Story.

Zoe, aged 12 – Chronic Recurrent Multifocal Osteomyelitis (CRMO)

Zoe has Chronic Recurrent Multifocal Osteomyelitis. CRMO is a rare, incurable disease that causes bone lesions, fevers, and painful bone inflammation. It strikes 1 in a million people, most of whom are children between the ages of 4 and 14.

Zoe’s Story is a 501(c)(3) non-profit organization that helps children gain empowerment over CRMO and other rare diseases through journaling and creative writing. If you have a child with a rare disease, you can contact their website to obtain a free journaling kit.

Useful links
CRMO information
WebsiteZoe’s Story, Facebook, Twitter

1 out of 2 rare diseases does not have support group or foundation. Rare disease day, 28th February.

The conditions may be different, but their rareness brings them together to form a strong community. There is a sense of togetherness. Sufferers stand side by side on social media supporting each other. Many quiet voices speaking together can make them heard. Please add your voice.

Your voice can help make ours louder.

#ShowYourRare – Rare Disease Day Official Poster

Thank you to Tom, Jenny, Claire and Zoe for sharing their stories.

For Trish’s, Katie’s and Leslie’s stories, please click
this link from last week’s post.

Do you have a rare disease, or do you know someone who does? Please leave a comment below and share my post on social media.

Will you be painting your face and showing your stripes on Rare Disease Day to #ShowYourRare? If you do, I’d love you to go to my Facebook Page and share your photo with me. I won’t be painting my face – I have a rare disease called Trigeminal Neuralgia which causes severe facial pain. My face would really hurt if I painted it, but I’d love to see your pics.

Facts and statistics from Rare Disease Day and Global Genes.


19 thoughts on “Supporting People on Rare Disease Day

  1. Pingback: Why We Need to Support Rare Disease Day – Despite Pain

  2. Sue

    I I’m Sue and I have Trigeminal Neurolga also so no face painting either. I have had it for just over three years now. Mine is bi-lateral meaning both sides of my face. The right side came first and is the most painful. Prayers for everyone here who’s in pain!

    Liked by 1 person

    1. Thank you Sue. I also have some pain in my left side, but thankfully not as bad as the right side. I hope you are having a low pain day today. Thanks for taking the time to read and comment.


  3. This is such a wonderful way to raise awareness and show support to fellow bloggers who do such an amazing job sharing their stories and providing insights, too. Great to see the lovely Claire featured, and a few other faces I’d not come across too 🙂
    Ca xx

    Liked by 1 person

  4. Losing the Plot

    Excellent article, all of these issues (and more) need to be brought to our attention

    I have Sjogrens Syndrome, an auto immune disease, I don’t think it’s rare, but it is under diagnosed.

    Liked by 1 person

  5. Pingback: Rare Disease Day- a spotlight – The Concussion Chronicles

  6. I have enjoyed reading! From my blog name I guess you can guess where my pain, or as I stubbornly call it, “discomfort” is. I Have Tarlov Cysts. Such fun things. And I refuse to let the doctors try and add to my list of could have’s. My family doctor, who retired on me, wanted to check for other illnesses and I refused.

    Liked by 1 person

    1. Hi Zettie, thanks for reading and commenting. I hope your ‘discomfort’ isn’t too bad today. I don’t blame you for not wanting any more diagnoses. It can all get too much sometimes, can’t it?


  7. Colleen

    Thank you for bringing awareness to rare diseases. I have FAP, ostromas, a Desmond tumor and a stomach full of polyps. I do not have many good days and some days, I just get by. Even with that, I try my best to keep living my best life with my daughter.

    Liked by 1 person

  8. Pingback: Supporting People on Rare Disease Day – My Story shared on Despite Pain blog | Pain Pals

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