Saturday, 18 April 2015

Years flying past, still waiting on answers..

As Roo's fifth birthday approaches later this year I never dreamt that we would still be on this journey - being undiagnosed. When his issues came to light at 11 wks old and underwent tests in hospital I naively thought that they would find what was wrong and give him the treatment he needed and then everything would be OK ...how little did I know that it was the start of a long journey. As the months,years went by I found it hard to understand why consultants, professors in the medical world could not find out what was wrong with my son, they had been to university for years to train in their profession so surely they should be able to find out what was wrong. Not long after we came across an article in the paper of a little girl called Jess and it talked about how she was a SWAN - Syndrome without a name so I was curious and started googling and soon came across the SWAN Facebook page & website I was amazed that there was many other children like Roo out there , who were also undiagnosed and I joined their community. I soon learnt how complicated genetics can be and how hard it can be for doctors to find a diagnosis.

Did you know that roughly 6000 children are born each year with an undiagnosed genetic condition? That is a lot more that I thought..it just shows you how complicated genetics can be. When we saw our genetics when Roo was 6mths old he explained how complicated it is and how they would never give up as technology is always progressing so they are learning more and more as time goes by. Our children are basically writing the medical books for the future generations so other parents may never need to know what it's like to be undiagnosed as by studying our children, mapping out their DNA and discovering new syndromes etc it will be 'easier' to diagnose children in the future.

At the start of our journey I found it very lonely and isolating as there didn't seem to be others like our son, any other disabled child we came across their parents were able to say what their diagnosis was whereas we could only say ' we don't know'. Whenever we questioned doctors they would always say ' it's complicated, we don't know and need to keep investigating' and we often left appointments feeling frustrated at the lack of answers, scared of the unknown of what the future would hold for our son. 

Over the years I've lost count of all the different tests that Roo has endured in order to find out answers, the hope that this test would give us the answers and then the confusion of emotions when the tests come back negative - the relief that it's not that disorder but the devastation that you have put your child through the tests, pinned them down while they screamed in protest, their eyes looking at you begging you to stop. There have been times when I've thought 'no more' but then something will crop up and needs to be investigated to see if treatment is needed and you feel helpless when professionals tell you that it's 'important/essential' that they undergo this test so you have no option but to allow your child to undergo the torment. Many tests are harmless and not painful but when your child has learning disabilities and very little understanding it's so much harder as you can't explain and they often struggle as may have other issues like sensory issues etc so the tests are distressing and painful for them. In Roo's case we have had a lot of normal results but we have also had a lot of abnormal results which in many children would lead to a diagnosis but in Roo case it often didn't make any sense as his other symptoms did not tie in with the possible diagnosis so it would be dismissed as 'unknown reason and needs to be monitored' so in other words they are left scratching their heads to what this unknown disorder is ..so frustrating when that happens as it makes you lose hope in ever finding a final answer to all his problems.

Being undiagnosed can also mean very little support or having to fight to get support in some areas. We have had many battles with physios, OT's who keep saying that because he does not have an overall diagnosis that there is nothing they can do and discharge us. Even though other professionals keep referring us back to them we get the same thing every time and it makes you think 'is it worth it?' But of course it is as you want the best for your child, you don't want the system to fail them but those battles are battles we could do without as it's hard enough raising a disabled child. One of Roo biggest issues was/is the sleep disorder he suffers from and it's one of the areas we seemed to get very little support because there was no reason behind it... It's only now that it's become so severe that I actually had to say enough is enough and we are finally getting support via respite, new meds, referrals etc...all this could have been done years ago but after a long battle we are finally getting support.

Roo has made a huge impact on our family especially on our other children. Our family dynamics have changed. Gone are the days when we could just spontaneously go out with the boys for the day, where we could sit and play board games, do activities all together as a family. Now everything has to be planned as often some of the things Roo cannot join in so it means the family get split with one parent going with the boys while the other parent stays and watches Roo. It's just not the same. After a long time we were finally given a social worker who has helped us to finally get some respite so Roo has a carer once a wk and it allows me to catch up on sleep or just have some time to myself while other boys are in school and in the school holidays it means I can have some valuable 1:1 time with the boys. The eldest child has been the most affected, because he can't answer other people's questions to what's wrong with his brother he gets quite upset and angry. He has begged me not to let Roo attend the same school as him as he feels he won't be able to cope with the questions and not being able to answer them, worried about being bullied etc. My older children have had to make many sacrifices like giving up a holiday because Roo couldn't cope, being sent to relatives while we attend hospital appointments or stays, having to sit long hours in waiting rooms while Roo sees the many professionals he is under and getting tests done. 



When people ask us what is wrong with our son and we say we don't know they often will then dismiss his issues and say 'oh he will catch up, he just needs more time with you' etc. Sometimes they even go on to 'diagnose' him and ask us why we haven't got him tested for it or pushed for testing! They just have no idea of all the things he has been through. Some people are so ignorant that they blame the parents , that we aren't bringing up our child right and they know better. We have had people say that there is nothing wrong with him and that's why doctors don't know. It's never easy. People need to learn and understand more about our children, about how a diagnosis doesn't define them. Our children deserve the same understanding, respect, support as children who do have a diagnosis. This is where SWAN UK come in, they advocate for our children, raising as much awareness as possible, and most of all giving valuable support to families like ours. Many groups or websites are catered for a specific disability like Autism, CP, SB and so on but we don't fit in even though the symptoms are the same/similar but tests say otherwise so many often feel they have nowhere to go. SWAN is a lifeline to parents like us, we can speak to other families who have undiagnosed children. No child is the same, every one is different, unique and vary across the development stages from severe to mild , some have severe medical issues and some have none but it doesn't matter here as we are all the same - undiagnosed.... We understand exactly what we are all going through due the one common bond we share...we all support one another and help each other whether is to simply be there to listen, to hug, to share in every milestone, share knowledge of everything ranging from medical issues to behavioural issues to schooling issues and so on.

At the moment Roo is making slow but good progress even though his consultant has said he is significantly delayed and seeing him make this progress gives me a little hope for the future but there is still that part of me that thinks 'will he keep making progress, or will he get to a certain age developmentally and stay at that stage, will he lose some of the things he has learnt, how will he cope at school, will he always have the 1:1 support he currently has' etc also there is a part of me that worries that if we never find a diagnosis what does it mean for his future? Adult disabilities services are already over stretched and I hear so many stories of how parents have to fight and fight for any support for their kids and if your child is undiagnosed still what will it mean? Will it mean it's gonna be a harder battle to get support because he doesn't fall under any category? What if he gets worse as he gets older? I just hope that we do find the answer we have desperately seeked for the past few years to give us an idea of what to expect future wise and to ensure we get the full support we need. But meanwhile we know we will never be alone as long as we have SWAN UK to support us.



Please show your support of SWAN UK by wearing blue or pink clothes and post a pic to Roo's Journey page with the hashtag #undiagnosed. Also if you wish to donate you can do so by texting SWAN11 £ (enter whatever amount you wish from 1 - 10) to 70070. 






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