All posts for the month February, 2016

Rare Disease Day

Published February 20, 2016 by swanfreddie

It would seem Freddie’s blog has been very neglected lately. With a 6 year old, a 5 year old Freddie and an 18 month baby life is pretty hectic. Add to that a puppy and a husband who spends more time out of the country than at home blogging has taken a massive back seat. So with a rare 30 minutes of peace I’ve quickly put together a post. The spelling may well be awful and I’m definitely not going to be winning any awards any time soon for my style of writing but I managed to write something down, which I’ve struggled to do for a long time.

With Rare Disease day coming up on the 29th February it has really got me thinking lately of where we are up to with Freddie’s diagnosis. We are now nearly 6 years into the search to find out what causes all of Freddie’s issues and are still left with no name.
Basically we have a child who has seen hundreds of doctors since birth. They know he is unable to walk, unable to talk or function and thrive like a human is supposed to. But they just do not know why. We just know that the syndrome Freddie is likely to have is going to be rare, hence why it is so hard to diagnose.

The hope is, we eventually get a diagnosis for Freddie and it may help to give us an insight into why Freddie is disabled and ways we could help him overcome a lot of his issues. It will hopefully give us an idea if anyone else affected by the syndrome has gone on to walk or talk and has lived into adult hood. But we may actually end up with a diagnosis that so little is known about we will still be left with many unanswered questions about Freddie.

As important as it is for us to find out the name of Freddie’s syndrome I must admit over time you do forget about it. In the early years any hospital appointments were attended with anticipation of getting a diagnosis. Every letter posted through the door was opened in hope of news. But it never came. So slowly over time we had to stop thinking about it. We had to stop spending hours googling every possible issue Freddie had in the hope we may be able to diagnosis him ourself…Something which I really don’t advise any parent to do! Google is very good at turning any symptom in to a deadly disease.

So for now we just treat Freddie based upon the information we do have. And I expect even when we do have a diagnosis I guess not a great deal will change in terms of how we deal with Freddie. Unless of course there’s a miracle cure that will suddenly make his legs work, his speech suddenly appear and all his other issues disappear.

Treating Freddie lately has stepped up a little lately due to him very rapidly growing! He is now a big, heavy 5 year old who is incredibly hard to carry or lift. Which is actually causing us alot of problems. This was a big fear of mine when Freddie was younger…how do you manage once they become too heavy. I strain my back alot to lift Freddie. I no I have to keep lifting him to a minimum, but when you have other children to care for you find everything just has to be done as quickly as possible.
The idea is I hoist Freddie into his chair …the reality is lift him into his chair while an 18 month old hangs off my leg.
Bath time is supposed to be done using a hoist and sling…but reality is lifting him quickly into the bath is so much quicker and straightforward than trying to hook Freddie up and hoist him in, with again an 18 month old hanging on to you and a 6 year old desperate to use the hoist remotes.
Even playing at home has becoming pretty hard lately. We try to include Freddie in everything we do and play but when your other two children are jumping and sliding off big soft blocks trying to lift Freddie on top of them and help him slide off is pretty taxing on your back.

Freddie has also outgrown all his current equipment so we are in the middle of trying to sort out a new indoor chair for him, a new wheelchair and sleep system. Hopefully all of which will make life slightly easier for us. Equipment like this is becoming ever more important to us as Freddie grows up as it enables us to keep his body in a good postural position and maneuver him around easier. Also we are hoping when he gets a new wheelchair he will be given a little bit more freedom to be independent and self propel himself around, something he is seemingly getting pretty good at at school.

As ever Freddie’s been keeping us on his toes lately with his hospital appointments. As soon as you get one crossed off the calendar it feels like two more arrive in the post. He’s going to be having a rough time in March as he’s unfortunately got to have two operations. One is hopefully just going to be a minor day patient operation but the other is 4 hours from home  with a few nights in hospital. I’m sure in true Freddie style he will bounce back as quick as he always does just with an extra couple of scars to add to his collection.

So for now as we wait in hope for our diagnosis along with the miracle cure, we have therapies to do, backs to strain and operations to be had.