The Mystery of Roo


Roo is a mystery to the medical world and always has been...as he gets older he becomes more complex and springs up more mysteries on the doctors! We are forever searching for clues that can lead to possible answers...The medical world aim to keep searching until they finally get the answer they and ourselves have longed for...But as time goes by I am starting to accept that our son may always be a mystery...we may never get answers and that's scary in many ways as it means we have no idea what the future will hold for him...So far on this journey we have come across many clues which were hopeful only to be dashed and told that the clues had come to a dead end..no one knew how to take it further or what the next step will be....

Roo has undergone many tests and even then the results are never straightforward and leaves the doctors scratching their heads and wondering why the clues aren't adding up and instead increase the mystery that is Roo... Since we started this journey we have added more onto our list of clues that may one day lead to a syndrome. The genetics is convinced that Roo has a rare genetic syndrome and that all his clues are a part of it but the world of genetics is a mystery and they are still learning all about it...The DDD study that we are on hopes to find answers to the clues but often when they do find the answers the syndrome is so rare that no one knows anything about it so all they can do is write up all the clues relating to that syndrome as the child grows and hopefully in future generations they will be able to give it a name, understand it and know what to expect future wise so that it wont be a mystery for their parents. I would love to have answers, but I need to prepare myself that Roo may always be a mystery to the medical world.

Shortly after Roo was born we were told that he had macrocephaly but they didn't know why, as he developed it became apparent that he was severely delayed but they didn't know why, a MRI scan a wk after his 1st birthday showed some abnormalities - non specific white matter changes and they said it was a mystery to why he had those as his symptoms didn't match certain syndromes that can cause white matter changes...they didn't know if it was relevant to his undiagnosed condition so said that they needed to keep a close eye on it. His bloods showed a slight abnormality which again was a mystery and they would monitor it...at this point I was ready to scream to the medical world that they all had degrees, diplomas and had learnt everything medical possible and yet they couldn't figure out what was wrong with my son...I didn't understand why it was so difficult but now I realise that genetics is a minefield and even the consultants were still learning all about it..it wasn't a simple test that gave straight answers...we were going to have to be patient and hope one day the clues would lead to the right answer. Even Roo EEG's were abnormal even though at the time he wasn't having seizures so they didn't understand why but soon afterwards he developed them and we are due to go into hospital next week for another 24hr VEEG before deciding on epilepsy medication as they want to see if there are any changes to the abnormalities and we are currently waiting on the recent MRI scan results to see if they can solve the mystery of the white matter changes.

It was during that MRI scan a month ago that they discovered that Roo had another medical condition called IIH and they did not expect this, there was no indication that he was suffering with pressure on the brain...His Neurologist who came to speak to us after the scan said that this new condition complicates things as they think its separate from his undiagnosed condition but they cant be 100% sure...also the scans show that there is no physical reason to why he has this condition - there is no tumour or fluid but yet he suffers from this...

in their words he is a mystery......

and this scares me as IIH is a scary condition and can affect him in many ways and with his lack of understanding and communication I have no way of knowing how much this condition affects him...I have to rely on his body language, on his moods and any signs of illness. I really wish he wasn't so much of a mystery and that for once we can get an answer, stop all the testing so that we can sort of prepare for the future.

 I worry about the medical profession only seeing him as a mystery to be solved, I wish they could see that he is a little boy too, a mischievous one who loves to bang things, climb onto furniture, sit in the soil amongst the plants, pulling them out, turning on my taps at full blast causing it to splash everywhere making him so excited, emptying the dogs water bowl and every time we say "no" to him he just looks at you totally oblivious to it all and smiles his charming smile and you cant help but laugh with him.

A smile to make you smile...
There are many days that I often feel sad and worried about everything that has happened and will happen in the future there are days were I am happy and why is that...because of Roo as on those days he is the happiest wee boy you come across and his smile just warms your heart and you just cant help but smile with him and feel happy seeing the happiness on his face and that is important - something to cling to, to cherish...

What makes this journey of the unknown so much easier is that we are part of a fantastic community - SWAN (Syndrome without a Name) I have made so many friends on there, all who completely understand what its like to have a disabled child that is a mystery to everyone. They are there to hug me , comfort me during the bad times, they celebrate every tiny progress with me as they understand how important it is, they give me advice whenever I ask for it and more importantly they are always there for me no matter what and this is why everyone should support SWAN UK as without them there would be some very lonely families out there like us feeling that they are all alone in the whole world with no one to understand or support them...its a dark place where no family should ever experience...being part of a community is important and SWAN UK is that.


Comments

  1. A very special boy and family indeed,Chris F xxx

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