Rare diseases are not so rare

There is a wonderful blog post in today’s Independent all about rare diseases, to mark that today is the fifth annual Rare Disease Day run by a patient-led organisation called EURORDIS.

We don’t know yet whether Orange has a rare ‘disease’ or a rare ‘syndrome’ but the crucial point here is ‘rare’. Whatever is going on with Orange, it is proving hard to establish a diagnosis. We are obviously looking for something quite subtle and unusual. He has had many, many tests but nothing conclusive has been found.

What I am learning, and what always comes as a surprise to my friends and family, is that a very great number of people who have complex or additional health needs have no diagnosis. This is not necessarily through want of trying. Science just hasn’t quite caught up yet. We are getting there, and genetic testing in particular has taken great leaps and bounds in recent years, but I know I was surprised to learn that as many as 50% of children with special needs have no definite diagnosis.

This is why the work that organisations like SWAN UK is doing is so important. SWAN UK is a project run by the charity Genetic Alliance UK, which offers support and information to families of children with undiagnosed conditions, like Orange.

Without a name for their condition, it is extremely difficult to access information, care and services that are so desperately needed. I had no idea what I should be seeking out for Orange. If we were still in London I would be none the wiser and we probably wouldn’t have any community support at all. It is only by luck of moving to Surrey, and the help of a brilliant health visitor (I know, who’d have thought…) that we now have in place a whole team of experts locally who are looking after Orange’s every need. It is vital for his development that he has as much input before the age of two as possible. And this means physio, hydrotherapy, occupational therapy, ‘learning through play’ otherwise known as Portage, speech and language therapy.

If I had known about SWAN UK when we first were worried about Orange, the path to getting the services he needs might have been a little quicker and easier.

With a diagnosis, the therapies probably wouldn’t be any different, but they would have been in place for him much earlier in his life, which could have made quite a difference.

With a diagnosis, we will be able to negotiate the right path for his education and schooling much easier.

With a diagnosis, we will be able to frame our expectations for his life. At the moment we have none.

So there we have it. Rare diseases and conditions are so rare that they are often undiagnosed. All that is known is that there is ‘something’. And that is why Rare Disease Day and organisations like SWAN are so important. The theme for this year’s Rare Disease Day is ‘solidarity’. There is strength in numbers. A voice.

Nystagmus (Wobbly eyes)

This week’s theme on the SWAN UK (Syndromes Without a Name) blog site is Nystagmus. This is an incurable condition that sometimes affects children who have genetic syndromes. In simple terms it means that their eyes wobble about, either side to side or up and down, making it very difficult for them to focus on things and use their visual skills to get about in their world.

We were told at Orange’s first visual assessment that he has mild, intermittent nystagmus. This was a huge blow and I really wasn’t expecting it. I had read about nystagmus and thought I could spot it. But I didn’t. And he has it. So there we go.

This week I wrote a guest post about his experience so far with his nystagmus. You can read it on the SWAN UK website here.