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The Never-ending story...

When a big brown envelope was delivered just before Christmas , I assumed that I had bought a present that I had forgotten about so I quickly opened the envelope only to find that it was from the genetic team - a letter with instructions alongside a DVD, 3 plastic boxes with specimen samples inside, each box labelled with my name, my husband's and Roo's. Feeling all positive and excited at the possibilities of finally getting answers we each put our saliva into the tubes (it was much harder than you think as mouth suddenly dried up and Roo wouldnt co operate so it was hard work) bundled it all into the envelope ready to be posted to Sanger institute where the DDD study was being held. Our genetic consultant was really positive about it all and said we wouldn't be waiting long for answers.

How wrong was he...here we are 4 yrs and 5mths later and still waiting...still undiagnosed. When we met with the genetic consultant last year while I was pregnant with Faith he admitTed that they hadn't expected it to take so long to get results and said that he was due to get a batch of results back in summer 2016 and that he really thinks Roo would be one of those. But as summer 2017 approaches and still no word I feel slightly annoyed that he put our hopes up a bit and now I just take anything he says with a pinch of salt.

Whats wrong with him?

This is a question we are often asked & they are surprised when we say that we still don't know. People seem to assume that because technology is advancing all the time so doctors should be able to find the cause and help but nothing is ever as simple as that. Instead we have a collection of symptoms or conditions that make no sense as they present differently in children like Roo than what is normally seen in others so this makes our children unique and complex.Recently there have been a lot of results coming through the study, many parents finally getting answers that they have waited years for, sometimes it's so rare that it doesn't yet have a name and they know so little about it but at least they know that there is a specific reason behind their child difficulties. I will admit I sometimes feel a little pang of jealousy that they finally got an answer and we are still waiting...its silly really but it's just the way I feel. Also it makes me wonder if we are next... I tend to try and forget that we are on the study and just get on with it but since Faith was born I have since started feeling a tad frustrated that we are still undiagnosed as it makes it that slightly bit harder to get full support, at a recent meeting with the social worker( a new one AGAIN)  the question was raised yet again " what diagnosis does he have? " and having to explain yet again why we don't have one and then having to go into depth and listing all his issues and arguing why we should still be entitled to support.

Is it going to be today?

Every day I wonder if this is the day we finally get that letter but it never comes. I'm not only waiting on one letter but two as Faith herself is going through genetic testing but different ones to her brother as the syndromes they are testing her for are related to her deafness as consultant says she has some syndrome charactistics so in a sense she too is undiagnosed until we get an answer for her which is due anytime now as we were told 8-12wks but I'm learning that time means nothing in the genetic world!

Why can't you accept him as he is?

I do... I always accept him for what he is,  but it's the mothers guilt that drives me to want more answers,  I guess I just want to be told that it wasn't my fault, that nothing I did would have made a difference. I wrote a letter to myself years ago which you can read here. It explains the guilt I felt ... i still feel the same even now as I can't help thinking "What if?" . A mother's guilt is a strange thing as there are many situations we may come across and we always find reasons to feel guilty as we feel we should be able to protect our children from everything but in reality we can't.

It feels like our story is never ending.... as each year passes, nothing has changed except he may have new conditions to add to his ever growing list , we still have to fight to get the support our kids deserve, we still have to face the questions, we still don't know what the future holds...

This is why I'm so thankful for SWAN U.K. as because of them we no longer feel alone like we did at the beginning of our journey, instead there are thousands of other children who are undiagnosed like Roo. Each child is unique, different, some are affected only mildly and some are very profound but that doesn't mean anything as in SWAN every child is equal. We all come together to support each other, we cry and laugh together , if there is a loss we all feel it together. There is always someone on hand to give advice or to simply be there to chat to regardless if its at 1pm or 1am... BUT 6000 children are born with an undiagnosed condition yet roughly only 2% are members of SWANUK. This is why its so important to raise awareness on Undiagnosed Childrens Day to let those missing families know that they aren't alone .


Swanuk are aiming to reach out and find parents of the 6000 children who are born undiagnosed each year. Please help by turning detective and helping us to find and support them. Share all posts including this one to get the message out and raise awareness. 

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