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. This awareness is especially important when it comes to people who are living with a rare disease.

When people are living with a rare disease, there is often very little information and support, therefore, awareness really matters.

Following on from my post last week, Why We Need to Support Rare Disease Day, I’d like to share some more stories from people who are living with a rare disease.

Sharing People’s Stories on Rare Disease Day

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.

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 cancer. FAP also has a 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 the 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

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

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

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 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
Website – Zoe’s Story, Facebook, Twitter

People With a Rare Disease Join Together on Rare Disease Day

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.

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

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.