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These days, my mildy peeved apathy has been superseded by something a little stronger and more urgent.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.