Friday, 12 April 2013

Tomorrow is Undiagnosed Children’s Awareness Day!

Yes, that's right and because Sunny is undiagnosed this is the perfect day for us to participate! There is even an own acronym for us: SWAN (Syndromes Without A Name)! You can either visit SWAN UK or SWAN USA.

"We presume he either has Seckel or Opitz Syndrome."
"We think your son might have autism."
"It could be CDG Syndrome."
"We could test him for Fragile X Syndrome, although this is rather unlikely."
"The reason for his delay might be primary autosomal recessive microcephaly."
"Maybe it is due to an X inactivation in the mother's genes."
"We think the reason is of genetic origin."
"It could be chromosomal."

And on and on and on.

I cannot count the numerous times doctors came up with suspected diagnoses. It is a recurrent theme that accompanies us since the first days of his life. Needless to say at this point that all the results came back negative.

During out latest hospital stay a lot of questions were brought up again with regard to Sunny's - still missing - diagnosis and some diseases and syndromes were named again that could be checked in addition to what was already checked. They even did a test again for something he was tested before and which came back negative just to make sure the first negative was not false. Turns out the second test was negative as well.

At some point you as a parent just wonder why you keep searching for the reason. And at some point you just do not care anymore how it is called because it does not define your child. What's in a name? It does not change who he is, it has no impact on his beautiful smile, his sunny personality, how he makes you laugh with all the mischief he is up to, it does not influence the sheer love of life you see in his eyes, the joy he has when he chases the ducks and the birds, it has nothing to do with the way he (rarely) snuggles up to you to show you that he needs you, the way he communicates with you that no one else understands. Having a name for it neither changes his therapies nor does it take away his struggles and how hard he has to fight to achieve something. Having a name hardly changes anything. But nevertheless, being undiagnosed comes with some challenges.

First, there is no support net you can turn to when you are sad, frustrated, have questions, or just need a place to vent. Who do you turn to? You do not fit into any of the other "disability groups". And if there is something like "developmental delay" in your child's "diagnosis" that does not make it easier. Because, as I already mentioned, "developmental delay" is something that includes a range from here to the moon, it means nothing and everything. No two kids with a delay can be compared so this is not that helpful. So, being undiagnosed can leave you feeling isolated.

Apart from that some people still think that science has the answer to everything. They cannot imagine that in the days of prenatal testing or space missions it is still not possible to find out the reason for Sunny's delays. Someone even asked me if it wouldn't have been possible to test him while I was pregnant. Um, we haven't found the reason for his delays in five years but you think testing him in my womb would have made a difference? Yeah, sure.

The lack of a diagnosis also leaves you in blind flight in a way. Although individuals with Down Syndrome are just that - individuals - and they, too, cannot be compared 1:1 there are certain health issues common in people with DS like heart defects, increased likelihood for leukaemia etc. We do not know what is in the cards for our children, medically speaking. We just added another thing to our ever-growing list of health issues and that is really scary. On the other hand, most people like you and me do not know what the future holds for them either, so this is kind of a double-edged sword that some parents have their problems with and some don't.

There also might be difficulties for parents with undiagnosed children with regard to services being cut down because, well, they do not have a diagnosis. Luckily this is not the case where I live but I know that this is a real problem across the pond. So this is when having a diagnosis might really become important.

I guess it is a good thing to raise awareness about the fact that there are still so many children and, probably, adults not having a diagnosis (yet?). This day was invented by Heather over at Team Aidan back in 2011 and will hopefully find more and more participants in the years to come. I am proud to be part of it this year. You can read more related posts here, here and here.

How can you participate?

* Wear blue and/or pink.
* Post pictures of you wearing blue/pink on your Facebook or Twitter profile or on your blog.
* Write a blog post about it.
* Share your blog posts (Heather does a blog hop this year).

There are more suggestions on activities for tomorrow on the SWAN UK blog post.

PS: I have written this blog post about four weeks ago and just added some bits here and there. Today when I wanted to publish it I wanted to do a final spell check and copied the text into a Word file. I accidentally deleted the complete blog post while doing so and had to write it again. All of it. Luckily the preview was still open so I did not have to come up with all the content again but "just" only type it but wow, that was a lot of work now!!


  1. Joy, thank you so much for the information. Before the world of blog I thought that Boo was in the minority of undiagnosed children. I never realized how many parents suffer in the land of not knowing.

    1. Kerri,
      I really understand what you mean. I am so glad that I found others who are dealing with the same issues! xo

  2. This is fabulous. The journey is certainly exhausting and frustrating and not meant to be taken alone. So glad I found SWAN! Thanks for sharing this so articulately.

    1. Thanks Heather, I really enjoyed writing it all down! Thank you for inventing a day for kids like yours and mine!

  3. As always, I love your honesty Joy. Thanks for helping us understand your journey better. I really hope we can meet in dreamland ;-)

    1. Thank you so much Tatum! I'd love to meet you there, too! Hugs!

  4. We know why Silas has his condition (birth trauma) but it's still not really something that is diagnosed like CP. In some ways I'm glad because I don't want the label. In other ways it's hard, like you said, because you can't connect with others who are "just like you". Bummer about your accidental delete too. Oops!

    1. Thank you for the comment, Alana. I understand the thing about the label that you mentioned. xo

    2. BTW, how is eating going in your house? Looking forward for an update from you!


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