Patient perspective: living with a rare disease

On Rare Disease Day we relate the personal ‘diary’ experience of a 28-year-old woman with systemic scleroderma, an uncommon condition in which the immune system attacks the connective tissue under the skin and around internal organs and blood vessels. It is thought to affect 40,000-165,000 people in the US.


My biggest fear is that I will lose more mobility in my hands and wrists. It interferes with my studies because it’s too painful to write with a pen. Oh well, back to see the occupational therapist on Tuesday. Hopefully he can help. The rheumatologist only discovered my scleroderma a month ago and says it will take a lot more effort than usual to do the things most people take for granted.


I seriously have to find a way to stop stress. It affects the condition more but the house is always a mess and it’s frustrating with these bracers on my hands. I can’t stop sleeping lately – just feel so drained. I will continue though, no matter what. I will continue with my studies, looking for my own house and get some part-time work.

Living with this disease

I am off to see the occupational therapist again today to learn more exercises to help regain some mobility in the wrists and keep it in my fingers. Good thing is it is a warm day today so less pain YAY! Got appointments coming out of my ears, though, but at least it’s getting started so I can begin to do most things again.

Been so busy with appointments and my job search. I am going in for a whole-body bone scan next Friday and the specialist is also checking for Lupus which is super (not). Sorry I haven’t been on for a while – if I don’t have appointments I’m trying to sleep, which is difficult. Mum reckons I shouldn’t bother with the job search but how else can I afford to support myself and become independent again?

Most days I wish all of this pain and tiredness would just go away. I fell down holding my little nine-month-old nephew the other day but managed to hold him to my chest and make myself fall backwards so he wouldn’t get hurt and he is ok because of that, but I just want to be able to hold the little ones without the fear of these legs just giving way on me all the time.

Well the scans went ok I guess. Turns out the tightening of the skin has pushed some joints together. I have a little muscle deterioration in the left hand and a few problems with the lungs, but things are still looking up…

…Now I am sick, sicker than normal. Every 6-8 weeks like clockwork I get symptoms like pneumonia. It’s impossible. My oxygen stats drop into the 70s to 80s, I run a fever, cough, have severe shortness of breath and I have been hospitalised four times this year already. On one occasion in August 2013 I almost ended up on a ventilator – that was scary as hell. Is anyone having similar problems? I am at a loss. I’m on oxygen, which, I will not lie, is quite depressing, especially since I am on continuous flow – 3 litres when resting and six upon movement.

…Found my own place. Now doing hydrotherapy, getting splints fitted and starting on my new diet.

This is a real patient’s experience from Treatment Diaries’ website. Read more, share if you like or join in the conversation. Making sure you feel less alone when navigating a rare disease diagnosis is important. Treatment Diaries connects people to others who can relate and provide support.

Read another patient experience:

Patient perspective: a breast cancer diagnosis