As part of our Undiagnosed Children's Day celebrations we held an information event for parents and carers who have children with undiagnosed genetic conditions. The event was in partnership with Contact a Family and Centre for Life in Newcastle.
Emily Buckley, parent of an undiagnosed child gave an insight into finding out that doctors couldn't give a diagnosis for her son when he was born and what happened next.
After my little boy was born, he was laid on my chest and then he stopped breathing. Doctors ran in, resuscitated him and ran off with him. The next five or so hours were a bit of a drug fuelled haze. I didn't see him again apart from a little instant photograph sent up from the special care unit. In it he was wearing a CPAP mask including a hat. I tried to think about what he looked like. As time went on I became more and more concerned. I kept asking to see him. And kept being told that a doctor wanted to come to speak to me. At this point I was blissfully unaware. I just thought, they are checking him over and I'd get him back soon. I was moved to my own room and was delighted as I am quite antisocial. With hindsight this was a bad sign but I was so naïve I thought – great!
My husband and I sat waiting for the doctor and he appeared along with a nurse. I saw their faces and thought the game has changed. The doctor look serious and the nurse looked upset; I remember her eyes were a bit teared-up. That was the conversation in which I was told my son was a Swan.
As well as being told my son was quite poorly we were told that he had a number of unusual features. These features were listed and we were told that when babies have various features like this it meant they usually had some sort of syndrome. I think the doctor said “syndrome” about five times at this point.
“Robert's nose is very small ...” said the doctor. “Ah so he has Downs Syndrome!” I interrupted. To be honest Downs syndrome was the only one I actually knew a tiny bit about. I had met people with Downs syndrome, I had a vague idea what it was about. I felt half relieved half horrified but I thought oh well at least I know what is going on now.
“No, I don't think he has Downs syndrome said the doctor. He mentioned a few syndromes they were testing our son for but said it was very unlikely that he had them, they were ruling things out. Ironically I was told my son was likely a Swan on day 1 of life but it really didn't sink in. Partly because we were waiting for lots of test results, and this continued through the coming weeks and months. But also because it is very hard to accept that doctors don't know what is wrong with your child.
As a non medical person I just thought they knew. They were super smart and they figured it out. And if one doctor didn't know they went off and found a cleverer doctor until they knew what was wrong. I used to love that programme “House” and imagined the RVI could call on someone like that to diagnose people when things got a bit tricky.
With nobody telling me a prognosis I alternated between a very bleak outlook and total denial. When I was being negative I would sit and search online for combinations the medical terms I had copied from my sons notes. I would convince myself that as my son had one or two characteristics of a syndrome, that he had it, never mind he didn't have the other issues! He was obviously an unusual presentation. Many of these syndromes were associated with a short life span. I was an emotional wreck. Here I was with a C in GCSE science and lacking the knowledge of basic genetics but in my bad days I could cause myself untold woe with my self awarded medical degree from Google University.
In denial mode I couldn't see why my son had such awful breathing problems why he couldn't breast feed or have a bottle. Other children around my son had similar but not the same issues. Their parents seemed to know why their children were in hospital; they were premature and their lungs not developed or they had suffered brain damage at birth and had no gag reflex. I felt like we had no answers, or very little answers. I struggled to accept things for a long time because I just wanted to know why things were the way they were. And nobody could tell me.
For a long time I felt quite bereft and angry. I had wanted a child more than anything and now here I was with a baby I couldn't take home from hospital for months on end, who needed medications, was fed through a tube and needed a tracheostomy to breathe. At night I listened to oxygen concentrator whirr, sats monitor beep and feed pump occlude. And when there was a chance to sleep I was kept up by worry. The phrase developmental delay was now part of the puzzle that is my son. I worried why he wasn't doing certain things, would he ever do them? Was I doing enough to help him? Was he going to start to regress, would his condition mean he wouldn't live very long? The thought of losing him was unthinkable.
This all sounds quite negative so far and to be honest it has been quite tough. But – it wasn't all bad. It has definitely been a character building time. I felt so far removed from most peoples parenting experiences I found it hard to relate to anyone. When people talked about trivial problems like their baby having to have their vaccinations, often people would try and make suggestions with regard to feeding and getting him moving. I just smile and nod. I ended up staying in a lot as my son's reflux was horrendous and it was just too stressful to go out.
The biggest help with this has been to make contact with other parents of children who are facing similar issues. This is not a magic cure and often I find it quite upsetting, especially with online groups where there is always someone having an awful time in hospital and quite regularly someone is sharing news of the death of their child. But there is something empowering about knowing you are not alone.
You are not the only family facing these issues. And seeing people who have been where you are, but have come through and now look like they are living quite a good life gives you hope that you are not going to be in your current situation forever, whatever the future looks like.
We are quite lucky to have a good relationship with the key people involved in our sons care. We have a lot of respect for them and trust their opinion in their respective fields. We feel they have Roberts best interests at heart. Occasionally we hear opinions we don't necessarily agree with about Robert. At the start this used to crush me but now I just think “well you have seen him once for five minutes, looking quite unwell, so really I'll just file that as irrelevant”. As we have become more confident as parents I don't hang off every word as I did in the early days.
I have only been a parent for 18 months and this is just my perspective. A lot of parents of Swans have to deal with things I don't and vice versa. Some of us were first alerted to problems. We are dealing with a vast array of issues. No two children are the same. No two Swan parents are the same. But what we have in common is that we had a child and we had a plan, however vague, of how it would apan out. But at some point, be it when our child was in the womb, at birth, or days or months or years after, our plan was torn up by life. The universe laughed at our plan and threw our lives into dissaray. And as we were trying to make a new plan, trying to adjust to this new reality, we have desperately searched for answers only to be told there are none. A counsellor told me this is one of the hardest things to accept.
We grieve for the loss of the future we planned, maybe for the child we thought we'd have. That doesn't mean we love our children any less. If anything we love them more.
The best advice I have been given is to relax, and enjoy life. And that it is both fine and normal to feel sad some days. Life is just going to happen. My son is the person he was meant to be. He is happy and loved. Maybe we will get an explanation, maybe we wont. It will not change who he is or our circumstances, but maybe it would provide some closure. Until then I will be a proud Mam of a SWAN.
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