Everyone gets ill at some time don’t they?
Whether it is for example a cold, stomach upset or measles, people know what illness is like. You get something , you do not feel right , you take something, it goes away. That is illness, it is a common human experience.
The “not feeling right” defines the illness. You are aware of it because there are signs that things are not right. Symptoms. Some of these are visible to others, others only to yourself.
The symptoms are evidence that the body’s defense mechanisms are working as it tries to deal with what whatever it is is that has invaded it. Once it has dealt with it ,you feel well again.
Not only that but body’s defenses may have learned from the experience and developed ways to stop it happening again.
It is a common event, theses are diseases that we all could experience and recover from.
But what if the body’s good defense system turns bad and cannot be controlled. This is what happens to those with a disease called aHUS. Defects in aHUS patients immune system means that, although it can work in a normal and beneficial way, it cannot stop doing that naturally as it does for other people. The symptoms get worse and worse and more of the body becomes damaged by what is happening.
This is what it looks like when someone with aHUS is in the middle of an attack. The patient is confined to bed too tired to do anything.
There are tubes and lines into and out of the body and linked to machines to take on the tasks that the body can no longer perform like dialysing the blood so that body does not swell up and retain the damaging toxins that are normally cleared with out thinking. Clearly the person is “not feeling right”.
What cannot be seen in the picture is what is happening inside the body at microscopic level , that is the something that has to be stopped.
Today there is something that can stop it in almost every aHUS case. Eculizumab. It can do what the patients immune system cannot do , stop the response.
Once it does that, and the last embers of the aHUS episode are dowsed, the patients symptoms can begin to disappear. CAN because not all symptoms go way for everyone. Neither has the chance of another episode disappeared either because the patient is not cured; but in a remission which may be life long, maybe not. There is little to see now, but it is not quite like getting over common ailments. You know how awful it was and you fear it happening again.
aHUS is a very rare disease and the vast majority of people will not get it, but there are people it will get. Indeed most aHUS patients were not aware of it, or indeed rare diseases even, before they got it.
So that is what Rare Disease Day is about,getting those ,who think they will not get them, to get what a chronic , debilitating, rare ,but not necessarily visible illness, is about. They do not have to get it to get that.
Rare Disease Day is on the last day of this month.