What it means to be "Rare"

Official banner for Rare Disease Awareness Day

28th February is Rare disease day. Social media is filled with the bright colours of the world wide "Rare" community celebrating and raising awareness for the myriad of different conditions. And why shouldn't we? No one else is going to raise awareness for us, and after all our battles, we deserve to be heard. To be understood. To be loved. There are more of us than you could ever imagine. More then 300 million worldwide to be precise. For a condition to be classed as rare it needs to have less than 200,000 sufferers in America and 1 in 2000 in Europe. Most are caused by faulty genes. We were born with them. They are us, and we are them.

I suffer from several, but the main two are a collogen disorder known as Ehlers Danlos Syndrome (EDS for short) and a Pancreatic disorder known as Hereditary Pancreatitis. Both have left me in agonising pain, tube fed and reliant on nurses and carers to help me with my daily needs. They impact each other too. Flares of one, often result in flares of the other. The almost constant tag teaming is exhausting and impacts every aspect of my life, all be it in differing ways. 

"Pancreas under attack"
 an original cartoon by Rosie P

Hereditary Chronic Relapsing Pancreatitis. Quite a mouthful, but very descriptive. I chose the wrong genes in conception, and as a direct result was labelled as being "failure to thrive" as a baby. Essentially, HCRP means my pancreas doesn't produce enough enzymes to break down my food, and the ones it does produce haven't been made correctly. As a result, when my food enters my digestive system, the enzymes my pancreas release start digesting the Pancreas instead. Its effects are chronic relapsing episodes of inflammation of the Pancreas, leading to pancreatic atrophy, pancreatic stones and many other nasties. During an attack I will vomit continuously for hours, blinding stabbing pain high in my abdomen going from the front to the back, radiating all over my belly. 

At aged 4 when I was first diagnosed I used to describe it as being "Here, here, here, and here" (all over the abdomen). I wasn't believed by the doctors and would cry in agony for hours despite the diamorphine syringe driver I was attached to in my hospital bed. A simple blood test from a curious young doctor saw my diagnosis rendered after a traumatic week long admission with these apparently non descript symptoms. They sat my mother down to tell her. It broke her heart. I was the youngest they had ever seen presenting with it. The disease only usually shows itself during teenage years. 

I still get attacks now, 21 years later. It's the worst pain imaginable. From a pain and relapse point of view the best I can hope for is the Pancreas "burns itself out" and becomes more scar tissue than working organ. Mines already nearly there. Only 10% working tissue. Brittle Diabetes and Pancreatic Cancer are complications I will likely need to endure in the future, but for now I wait. There is no cure, just symptom management. If I have children, I am 50% likely to give the faulty gene. Any child of mine with the condition has a 50% chance of having symptoms.

Some of the symptoms of EDS 

As for the Ehlers Danlos Syndrome, the effects of that on my body are wide spread. I have the Hypermobility Type (known as hEDS or type 3). It effects all my muscles, including the muscular organs of the bladder, bowel, heart and blood vessels, even the muscles that hold and focus my lenses in my eyes are effected. I have total bladder failure and am reliant on a catheter straight into my bladder to empty it, and wil be for the rest of my life. I am tube fed via my bloodstream as my bowel lacks the ability to move. It too is slowly falling. I suffer painful dislocations of my joints too as the lax muscles surrounding them struggle to keep my joints in place. This makes simple tasks such as opening jars, walking, writing increasingly harder. 

Like the Hereditary Pancreatitis it is a degenerative condition and there is no cure. I was diagnosed aged 21 after years of mistreatment by various doctors and medical teams. Again it took someone looking outside the box to make the formal diagnosis. Unfortunately I am not alone. On average it takes sufferers of rare diseases years of being turned away and mistreated to get their diagnosis, and many more besides to get the treatment they need. So next time you see someone hobbling about on crutches, or walking with apparent ease out of a disabled space spare them a thought. They might be battling a rare condition. There are more of us than you think.

Rare Disease Fact card by Novartis

For further information on Rare Disease Awareness Day please follow the link below.

https://www.rarediseaseday.org