As one door closes

I never used to answer my phone when a ‘Blocked’ number called. It was the hallmark of insurance salesmen or telemarketers, eliciting nothing more dramatic than a roll of the eyes in annoyance at having fished about manically in the depths of my handbag and dug my phone out complete with breadstick crumbs, a wipe or two, and perhaps if I”m really lucky, a lip gloss my 3 year old has got her sticky hands on.

These days, my mildy peeved apathy has been superseded by something a little stronger and more urgent. Nine times out of ten, a ‘blocked’ number is one of Orange’s medical team and usually one of the big guns, genetics, neurology, you know, the scary set. The people with news. “Is this it?” I wonder. “Will this be the call when I get Orange’s genetics results?” Oh help. I know I have to answer but have no idea what I want the news to be, or how it will make me feel afterwards.

Today that call came.

In three short minutes, his geneticist told me that the tests they have done on his KATB1 gene have come back normal. In short, this means he does not have Young Simpson Syndrome or Ohdo Syndrome, as these syndromes are known to be associated with mutations on that particular gene. As a next step, we agreed to put Orange forward for the DDD Study (Deciphering Developmental Disorders) where he will be one of 12,000 undiagnosed children to have their genes tested using the latest methodologies and sequencing techniques. We may or may not get a result from that study, but either way it’s likely to take years. And aside from that, his geneticist will order no further testing for now. Despite everyone being in agreement that Orange is dealing with something ‘syndromic’ and likely genetic in nature, she simply can’t think of any other ‘obvious’ syndromes to test for. We won’t see a geneticist again until next year, when perhaps Orange’s development will lead them to identify more clues as to what the cause of his difficulties and disabilities might be.

End of conversation. That’s that particular little door closed then. It was a door we didn’t really want opened so it is quite a relief to know that what lay behind it wasn’t Orange. Everything I read about Young Simpson/Ohdo Syndrome was, frankly, terrifying. But now what had become a very concentrated fear has lapsed back into free range territory. Instead of one door, we have returned to facing hundreds. Thousands. The possibilities are endless. But no-one can tell us what they are or which ones might apply to us.

And if that piece of news wasn’t enough for one day, this morning we were also discharged by Orange’s neurologist. He’s not having seizures (yet) and she doesn’t think his condition is neurological in origin so there is nothing more she can do. This should be a positive, but actually I just feel a little cast out. In the space of twelve hours, both genetics, and neurology, who have been crawling all over us with blood tests, sequencing, scans and assessments have waved us goodbye. They have no answers. We just have to ‘wait and see’ what happens with Orange next.

Next time a well-meaning (or nosy) stranger asks ‘What’s wrong with your baby?’ or ‘Why can’t he sit?’ I still don’t have an answer. And no, he won’t catch up, or grow out of his difficulties. They are what they are. We just don’t have a label for them. Without a label, the spectrum of fear is unbound. But there is also hope. Hope that his difficulties won’t be too complex or profound. Hope that he may sit, walk and talk one day. Maybe. Or maybe not. I am trying to ‘expect nothing and hope for everything’ but this is considerably harder to do than the words might suggest.

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8 Comments

  1. swanfreddie July 10, 2012 / 9:41 pm

    I'm not really sure how to respond to this. I find genetics testing so hard to know how to feel over. On one hand yay negative is great but on the other hand like you said you are now cast back into the unknown.
    When we had our genetics app last week I panicked so much that they would tell us a named syndrome but at the same time I wanted them to. Its crazy, i think theres no easy outcome. Both are going to be pretty crappy, unless of course they say we have this magic potion thats going to totally make your child better.
    I hope i make sense, in my head it does but perhaps on paper it doesn't!

  2. areyoukiddingney July 10, 2012 / 9:51 pm

    The line 'expect nothing and hope for everything' really chimed, there's always hope in the unknown. Living life in the 'grey'… Mind you static gets really annoying after a while! X

  3. LittleMamma July 11, 2012 / 7:21 am

    Yep, the spectrum of fear is unbound alright! But you've summed it up perfectly to expect nothing and hope for everything, that's what we *try* and do too.

  4. Jenn July 11, 2012 / 1:34 pm

    I just stumbled upon your blog, and I'm so happy that I found it:) If I'm understanding correctly, DDD study will now do the microarray testing? Is microarray not typically done in the uk?

  5. Mavis Cruet July 11, 2012 / 1:58 pm

    Thanks Jenn 🙂 He's had a microarray that showed nothing, but the DDD study will do a full DNA sequence (I think!). Our geneticist thinks it's a single gene that's causing his problems, rather than a deletion or other mutation on a whole chromosome, so only two things will find it 1) picking one gene to test, as they did for the Young Simpson test as this syndrome is typified by a mutation on the KATB1 gene, or 2) doing a full DNA sequence, which isn't typically done here (yet), but the DDD study will do. They can't think of any more individual genes to test as his characteristics don't point to anything obvious, so DDD study it is. Hope that makes some sense!

  6. Jenn July 11, 2012 / 2:10 pm

    Yes it does! We had the microarray done last year, and it came back as having a small section of the 11th chromosome triplicated – so he carries 4 copies instead of the usual 2. Now of course we do the dance- genetics says that they can't say whether this is the cause of the DD because his father carries the same anomaly. They both had DD, though my husband's was far less profound than my son's, and while similar, it was different. That said, after looking in to the research of the particular gene region that is effected, over-expression of it in the mouse model could easily be applied to a large portion of my little guy's delays. It has been a very long haul, and though we hoped that genetics would provide an answer to the riddle it seems almost impossible to get anyone to listen. I know in my heart the root cause, I'm just waiting for science to catch up with me:) Much luck to you and Orange- I know it is scary and often very lonely, but please know that you are not alone in your quest!

  7. Mavis Cruet July 11, 2012 / 2:14 pm

    It is a godsend to be able to talk with other families online going through the same thing. What a conundrum this whole genetics thing is. You're right, we just need science to catch up!

  8. lexilil July 12, 2012 / 10:26 am

    Genetics, while useful, important etc. is a nightmare! I really hadn't realised how long it all takes, and how what they think of as an answer is so far from what I think of as an answer. We're in a better situation to you, in that the tests found a duplication on chromosome 4. The geneticists think that is a diagnosis. However it isn't linked to any known condition, they can give me no indication of what might happen in the future, and until they find other people with the same duplication and similar difficulties they can't even confirm that it is the chromosome that's responsible for my son's problems! That's not what I call a dignosis. Good luck with it all x x

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