Undiagnosed does not mean she’s fine

I had a strange conversation with someone over the weekend. They were talking to me about BBG and the end sentence stopped me in my tracks, ‘at least she isn’t ill, I know X and their seriously ill with Y condition. You should be glad’

I stopped in my tracks as they said their farewells and went on their way. They aren’t the first to say this and they won’t be the last.

My daughter is undiagnosed that does not mean she hasn’t got a condition, it means science has not advanced enough to tell me what’s wrong yet. 

We know the family of conditions they are looking at, although the examinations are coming back positive for that general area, the genetic screening keeps coming back unknown, which basically means her genetic abnormality just hasn’t been found yet. 

These conditions vary from being able to sit unaided and then passing away at around 2, to being able to walk and then being in a wheelchair by around the age of 9 (maybe teenager), then followed by an early passing around mid 30s. Now because her strand hasn’t been found they can’t diagnose, infact they could completely be wrong and eventually the genetics tests come back as something completely different. The thing is she is showing more symptoms then any of the conditions they think it is and this plus the genetics is stumping the consultants. 

I recently became a member of SWAN UK (Syndrome without a name), I’ve read other parents blogs, I’ve read good ending stories and I’ve read the stories that no parent should ever have to live through. I’ve read similar stories to ours, where people have been given a rough estimate of what they are looking at and been diagnosed with completely different things and those where the doctors were correct. I’ve read all these stories, and although everything is pointing to the direction I am dreading, hearing stories of other children actually being diagnosed with a condition not as scary as first thought gives me so much hope.

The thing with being undiagnosed is human nature tells us everything is fine, that there can’t be a bad diagnosis coming otherwise they would have found it by now. The thing is this isn’t the case. Some people find out a few years into their journey and others never find out, they are constantly in this limbo.
BBG body doesn’t say ‘o I have no diagnosis I better stop failing’ her body will still fail her. Her kidneys will still be wrong, her nerves will still be diminished, her skeletal abnormalities will still be there along with the hypotonia and feeding problems. She will still be only able to  do one thing at a time, so either move and be silent or talk and not move. She will still be globally delayed. 

Being undiagnosed does not stop my babies body failing her. It doesn’t stop us worrying about her, infact we are in limbo not knowing if we only have months left with her, years or even a lifetime. Being undiagnosed doesn’t mean I don’t sit everyday and beg to take the place of my child. I beg God, the universe, everything to let me take her place, to give me her problems and let her be healthy. 

I wish people wouldn’t say I should be grateful as she isn’t ill, I wish people wouldn’t compare my child with someone else’s. At the end of the day life limiting has come up a lot, life limiting is not a child who is well, a life limiting condition is not good. 

Please, if you take one thing away from this blog take away the knowledge that undiagnosed does not mean their ok, undiagnosed is very complicated and is a very emotional thing to go through. 

2 Comments Add yours

  1. The problem is that a lot of people just don’t realise what they’re saying, or rather the impact of what they’re saying. We only waited 9 months for our diagnosis (which was agonising enough), we then went through 7 years of seeing just exactly how bad my son’s condition would be.

    what I’ve noticed over the years is that people like to make silver lining comments. It’s there way of trying to tell you to be positive. Unfortunately it usually has the opposite effect (even though that wasn’t their intention). Some of my favourites have been ‘At least you won’t have to ever run after him if he runs off in the shops’ and ‘At least you won’t have to listen to him talking all the time – my child never shuts up’ I’m pretty sure both the people who made those comments wouldn’t want to switch their non stop talking verbal child for one who is unable to talk for themselves, or switch their mobile child for one who will have to use a wheelchair for the rest of their lives!


    1. Yes I am sure that it is the silver lining comments and the fact people just don’t realise. It is just a stabbing in your heart. Like you said their not realising what it actually means and they really wouldn’t want to swap children over.


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