Accessing treatment for common illnesses when you have a rare condition
Last Reviewed 4/04/2017
By Gem Turner
I’m Gem, a Yorkshire lass at 2 foot 11 and just about to turn 24. I wanted to share with you today a short story about visiting the hospital to access treatment for common illnesses when you have a rare condition. I’m used to hospitals, I don’t really get nervous – if anything I am comforted knowing that when I usually go to hospital I’m in and out. Bone broken, come to hospital get a cast, painkillers and we’re done. I’ve broken so many bones now (over 300) it’s just routine.
This week was different. I was sent to hospital because my chest infection wouldn’t clear up. The GP said it’s just precaution but I’m not used to these precautions. My usual precaution is a little more plaster to keep my cast secure. Not taking blood and having scans.
The only thing I don’t like about going to hospital with things not to do with bones is constantly explaining my disability to professionals. If I’m not going in specifically about my bones it’s something we’ve still got to talk about first: “I use a wheelchair because my bones aren’t strong enough to walk. I can’t check my blood pressure because of my arm may break. My arms are bowed and hard to get blood from…”
I find myself sounding like a wannabe doctor because I have to be. Doctors nod as I explain… but I can tell they’re apprehensive and I feel it too.
A routine scan
This week when I went to the hospital I had a health scare. After having an X-ray to check for infection, I was told by a nurse that my heart was enlarged. That my heart was too big for me, it was pumping too fast and struggling to pump blood around my body. I made a joke that that explains why I’m such a nice person because it was too big, but inside I was terrified.
I was told I would need to check for blood clots and have a scan tomorrow. On the way home I was thinking about my enlarged heart and what this actually means. You can’t put a cast on a heart. You can’t take painkillers to make the blood pump around better. I was trying to be positive and not freak out.
Naturally I was curious and desperate to find an answer on Google that would say enlarged hearts are completely normal and not scary at all. All I could see were phrases like ‘heart disease’ and ‘can lead to sudden death’. All night I was petrified, not being able to sleep and planning the worse case scenario.
A lack of awareness
The next day my parents and I headed back to hospital with our books ready for a full day of tests and scans. Getting blood from me is quite difficult so we prepared for a day of needles and arm squeezing. Waiting in the waiting room didn’t take long and we were seeing the consultant first thing. The consultant seemed very relaxed, and I notice we don’t go in a room with a real door (always more serious). The consultant says a few things that I don’t really understand but basically says that I have a 2% chance of having blood clots, I have pleurisy and I’m free to go home with some ibuprofen. We all looked at each other stunned.
We ask, “Erm we was told about the… enlarged heart, can you tell us where we go from here? What we can do about it?”
The consultant tuts, rolls his eyes and asks the nurse, “How was this communicated? Verbally?”
Sitting back down on the bench he explains that yes, on an X-ray my heart is large, however – due to my size of course it looks large. My heart is a ‘normal’ size compared to my small chest.
I have nothing to worry about.
Ahhhh. An instant wave of relief hits me.
So what’s the moral of this story I hear you say?
The point is, it would have been far less stressful if the nurse had fully researched my condition and really taken time before giving me this life-changing information. People with rare conditions and/or brittle bones still can have other illnesses that need to be recognised and treated. We have mental health, common colds, muscle pain and so on. We want to be able to visit a hospital or doctors and get correct and thorough advice without having to explain our back-story constantly or be misdiagnosed.
Anyway let’s look at the positives, I have a big heart (for my body), I don’t have an increased chance of sudden death and all I do is break bones. Phew!
Gem is 23 years old and has the condition brittle bones (Osteogenesis Imperfecta – type 3). At birth she broke 14 bones and over 200 bones ever since. She is a Disability Trainer for Enhance the UK and likes to blog about fashion and life as a disabled person in her spare time gemturner.com.