Today is Rare Disease Day. I’ve written lots on my rare condition and also Star’s condition, but today I wanted to write about getting help when you are rare.
Star
Way back in 2013, Star woke up one day with a wonky neck. I took her to the GP who said to take her to A&E. We were told she had torticollis and that it would get better itself. It didn’t and we were back in A&E three more times before they scanned her and discovered a rotary subluxation of a disc in her neck. She was admitted.
A week later she was sent home again after having nothing but pain relief and muscle relaxants. She was given physio therapy but the therapist stopped treating her as she was sure she was getting worse not better.
I’ll cut a long story short, over the next eighteen months I had to fight to get the treatment my daughter needed to fix her neck. Each step was slow and, for her, painful. It seemed that none of her doctors where listening to me. She was finally diagnosed with a rare condition called Elhers Danlos Syndrome.
Her condition means that her ligaments are lax and she is prone to subluxations. Her bones can slip out of place and back again, causing a lasting pain. She has also dislocated her ankle a couple of times and dislocated her wrist. It was also, most likely, the cause of the subluxation in her neck. Which is why none of the treatments worked until she was permanently fixed with plates and screws.
She has many more issues and even now, with a diagnosis, we still have to keep on at doctors until they listen. Her condition is rare and it makes it more difficult for doctors to treat her with traditional methods.
Me
I had problems for a few years before I was really sick, but no doctor could work out what was wrong with me. My mental health was questioned on more than one occasion.
Then I became so sick I was paralysed and admitted to hospital. Again, no doctor really knew what was wrong with me. I was in a teaching hospital and each day students came in to question and examine me. They were clueless too. I did get a diagnosis of Transverse Myelitis, but I knew that my doctor was not absolutely sure of that.
A year later, I had learned to walk again (in a fashion..I know how to put one foot in front of the other, but balance and gait are something I’ve never mastered.) After more tests I was given the diagnosis of Stiff Person Syndrome. Again, a diagnosis does not mean that treatment is available, or that doctors understand my condition.
Each time I go to hospital it’s always the same, they don’t know how to treat me. So long as my blood pressure, temperature and heart rate are okay, they send me home and tell me it’s just part of my condition. I tend to not bother going to hospital now if I feel really ill, what’s the point?
Make Them Listen
Days like Rare Disease Day, and Charities like RareDisease.org help raise awareness. Without this then future generations will also go on not knowing anything about these rare diseases.
Why?
Building awareness of rare diseases is so important because 1 in 20 people will live with a rare disease at some point in their life. Despite this, there is no cure for the majority of rare diseases and many go undiagnosed. Rare Disease Day improves knowledge amongst the general public of rare diseases while encouraging researchers and decision makers to address the needs of those living with rare diseases.
Disease or Condition?
- A disease is a pathophysiological response to internal or external factors.
- A disorder is a disruption to regular bodily structure and function.
- A syndrome is a collection of signs and symptoms associated with a specific health-related cause.
- A condition is an abnormal state of health that interferes with normal or regular feelings of wellbeing.
As you can see from the chart above, even though you can give a different description to disease, disorder, syndrome and condition you can also see that they are all similar. Each one causes the patients body to react in a way that a normal healthy person doesn’t.
Both my daughter and I have syndromes, but we also have an abnormal state of health (condition,) a disruption to regular bodily structure and function (disorder) and our symptoms where caused by a response to internal or external factors (disease.)
Never Give Up
If I leave you with one thing it has to be never give up. There are so many rare diseases out there and the doctors really don’t know about all of them. There is a saying amongst the medical profession,
If you hear hoofbeats look for horses not zebras
This means that doctors are looking for the obvious not the rare.
This is why many people with a rare disease/condition/syndrome/disorder call themselves medical zebras.
Awareness is needed so that the Doctors will recognise those zebras!
10 Facts about Stiff Person Syndrome
The Day My Diagnosis Changed (Stiff Person Syndrome)
When it’s Not All Black and White (Elhers Danlos Syndrome)
My Angel (Star’s first Halo)
I had not heard of this day but think it is great you are writing about your experience and letting others know they are not alone. There is so much to learn medically that often other doctors are called in to offer their advice. #MMBC
There are so many Drs that no little about Rare Conditions, raising awareness is really important.
Hi Anne, it was hard enough getting a diagnosis for Gregs Aspergers and myopathy (that they still can’t put a name to), so I can’t imagine just how frustrating having getting a rare disease diagnosed… When I was growing up we used to holiday with this other family with two children the same age as me and my sister. Back then both children seemed no different than any other children, but neither reached their 40h birthdays. In their teens they both started developing strange symptoms that were put down to everything from Parkinson’s to MS, it turned out they both had a disease that was so rare it didn’t even have a proper name, it was just a number and only affected a handful of people worldwide. It was very, very sad to witness their health deteriorate and what the parents went through no parent should ever have to go through. The parents are still good friends of my parents and talk about their children openly. It’s days like this that will hopefully raise awareness for those rare diseases… And I can never remember the ‘name’of the disease either.
xx
what a sad story 🙁 It is really important to raise awareness and just to nudge drs occasionally to look in different directions xx