Archives

All posts for the month February, 2013

Rare Disease Day

Published February 28, 2013 by swanfreddie

Today is Rare Disease Day. In order to be considered as rare, each specific disease cannot affect more than a limited number of people out of the whole population, defined in Europe as less than 1 in 2,000 citizens.

In the 2.5 years since Freddie was born I’ve learn alot about rare diseases. I know that most of these diseases are genetic, serious, chronic and debilitating. I know that 75% of rare diseases affect children and 30% of rare disease patients will die before their 5th birthday. I know rare diseases are scary and horrible. But despite this it’s very easy to forget that Freddie has one. Infact Freddie is just a normal little boy to us. We don’t see him as severely disabled or rare and I often forget that he should be able to walk and talk. Hes just Freddie.
fred

But sometimes things happen that make you realise that the rare disease is there, lingering in the background and we are totally unaware of what to expect from it.

Last week Freddie started behaving a little unusually. He started pulling strange facial expressions and would panic if I tried to sit him up. He seemed confused and disorientated, he was twitchy and jerky and he seemed fearful of things that weren’t there. He would suddenly go shocked and wide eyed.He just wanted to lay down and he laid in the same place for hours. Anyone who knows Freddie knows how much he likes to move around and he never lays still. It’s so out of character for him. This went on all evening until he finally fell asleep.

The next day he woke up the same, not quite as bad but he was very quiet and withdrawn and not behaving like Freddie normally would. He was really clingy and just wanted to be held and cuddled. Freddie’s never enjoyed cuddles, he would much rather be on the floor playing. A week later Freddie still isn’t back to normal. He’s behaving like a very different little boy and we are quite worried as to what has actually happened to him. His doctor has said it may be seizures but they aren’t sure yet. We just have to monitor him.

Since this happened last week I’ve been a lot more scared of the future. We know that Freddie’s undiagnosed syndrome may mean he could have a shortened life expectancy, we know it may be progressive, things could get worse as he gets older and he could lose the skills that’s hes worked so hard to learn. He could also go on to lead a long, happy life, we just don’t know. But what happened last week has made life seem a lot more precious.  Anything could happen at any time. Rare diseases are scary and more needs to be done to help research them. Freddie will never get better, but the more we know about his syndrome the more we can do to help him.

care

Swan Freddie now has a facebook book page. Click the ‘like’ button at the top of the page to keep up to date with the Swan Freddie blog.

A map of Freddie

Published February 20, 2013 by swanfreddie

We have known since birth that Freddie has a genetic syndrome but we are still not sure yet which one he has. The genetics team suspected that it is so rare that possibly only a handful of people world wide have it. Over Freddie’s. 2.5 years of life we have acquired alot of doctors. We have close to 20 different doctors and therapist who each focus on a different part of Freddie’s care.
Over the past few years we have been told all sorts  of different issues and problems that Freddie has. With so many doctors and therapists it can be easy to get confused with what’s going on with Freddie. So below i’ve grouped it all together. One big map of Freddie from a doctors point of view –

freddie work3But the doctors don’t know the real Freddie, they don’t see little boy he really is.
This is the real Freddie –
freddie work 4I know what one I prefer.

Swan Freddie has a new facebook page where you can keep up to date with all the goings on with Freddie.  Just follow the link and give us a ‘like ‘- http://www.facebook.com/SwanFreddie?fref=ts