06.03.19

Our daughter was first referred to paediatric services when she was nine months old. This followed our concerns that she was not reaching her milestones and did not seem to be interested in her surroundings. Despite the many assurances we were given by the health visitor that it was only a matter of time, we were becoming very anxious. The first doctor we saw looked over our daughter, asked a few questions and agreed that there was indeed cause for concern. She was sensitive and kind to us and ordered a battery of tests.

While we were waiting for these to be arranged we were passed to another consultant. She said pretty quickly that from what we reported it sounded as though our daughter had a particular syndrome. She blithely named it, unaware that by a strange twist of fate a friend’s daughter had this rare condition. It was a shattering moment, one we can still recall clearly: an eye-opener into how cavalier a professional person could be about something which had no hard evidence to back it up.  And it left us reeling.

So began the long series of appointments for checks, examinations, blood tests, scans, assessments that would continue for many months to determine our girl’s diagnosis. We weren’t sure we wanted one. It was scary and felt somehow confining. Would a diagnosis be the end of the matter as far as professionals were concerned? Would it open doors for our daughter or would she simply be seen as somebody with this condition and lose any other kind of identity? Would we ever be able to look past her syndrome and just see her as herself? And how wide-ranging would any support offered be? We asked ourselves so many questions.

She was given her formal diagnosis at age 18 months. She had been in hospital for an overnight stay following an invasive scan requiring general anaesthetic and it seemed almost by chance that a neurological consultant who had been researching a rare genetic syndrome was on the ward round the next day. She told us that she recognised our girl’s facial features but she wasn’t prepared to say more until the test results were known.

An over-zealous medical student trailing behind her came back to us when she’d gone, told us the name of the suspected syndrome, and said that in his opinion our daughter couldn’t possibly have it, she didn’t display all the signs. Our subsequent internet search gave harsh details of the severe and multiple learning and physical disabilities having the condition involved and we were relieved to think that we could probably rule it out. How wrong that student turned out to be.

A few weeks later we attended the follow-up appointment with our daughter’s paediatrician and assorted medics who said little but watched us closely, perhaps to see how we would react when given the devastating news. Our girl did indeed have the rare genetic syndrome the hospital consultant had considered and would need care, support and supervision with everything for the rest of her life. She may not get past the terrible twos stage, would never talk, or in all likelihood walk, and we would have to adjust our expectations accordingly. We were handed a piece of paper hastily torn from a notebook with the telephone number of a support group. That was it.

Twenty-five years later we are very different people. Our daughter has transformed our lives irrevocably, as all children do of course. We are by now experienced carers and she is so much more than that person who was seen back then as someone limited in what she would be able to do. We celebrate her achievements daily, however tiny they may be, and when we look back at the beginning of it all, we realise how much reliance we have developed over the years. It will always be hard at times but we are no longer the raw recruits we once were thank goodness.