An Unexpected Diagnosis

It wasn’t clear what today’s appointments would be about, and after phoning the office regarding them, we were none-the-wiser.

As we are still in the old ‘pando’, only one of the parents would be allowed in. My Lovely Wife did offer to allow me to go with him but I was worried that I’d not be who he was after for support, but also, to be honest, a bit scared of dealing with a tiny baby crying in a hospital with no boob to stick in his gob. We would have a bottle of milk but he has been very attached to just being close to My Lovely Wife, so I didn’t want the first time they were appart to be me locked in the middle of a hospital somewhere with no chance of My Lovely Wife rescuing me.

We worked out that this appointment was in response to some ‘DNA’ tests they wanted to do after he was born. We had to sign to say we agreed to various things regarding the use of his DNA but also how the results could be shared. Very scary sounding stuff and the doctor who explained it didn’t put us at ease too much about it. In the hospital at the time we figured it was probably better to do the tests (based on bloods taken) but we weren’t expecting anything to come up.

This hospital visit we were better prepared and had taken the buggy to push him round rather than carry his carrier by hand – a great idea from My Lovely Wife. I dropped them both off at the entrance and went and parked up. The hospital has a nice garden so with the weather being unseasonably nice, I decided to grab a drink and sit there.

With a tea and some music, all I could do was wait.

I then got a whatsapp call from My Lovely Wife. Sure, we both have WhatsaApp but usually we just text or call or even facetime. To have a whatsapp call is very out of character. It turned out that there was poor phone reception in the hospital but My Lovely Wife could connect to the wifi and whatsapp used Wifi rather than the phone network.

The phone was put on speakerphone so both My Lovely Wife and the doctor could speak, and I had my headphones in. The call has become a blur of information now but these things stood out.

“DNA….. Chromosome 7 Deletion”
“Elfin features”
“Williams Syndrome”
“Learning Difficulties”
“Family History”
“Spontaneous and inherited”
“Growth Hormones”
“Puberty Suppressors”
“Heart Problems”
“Sleeping Issues”

I can tell you, there was a lot to take in. I was asked a number of questions about me growing up. Did I have learning difficulties? Did I have any developmental issues? Any family history of Williams Syndrome?

I’m sure most people would say ‘no’ to being asked if they had any learning difficulties or developmental issues. I have no idea. I know I wasn’t the easiest kid to parent/teach but I went to a mainstream primary and secondary school. I’ve never really spoken to my parents about ‘me’ as a child – I do know I went to a child psychologist but I couldn’t tell you why. Or for how long. It was some time during primary school years but I couldn’t tell you how old I was. I don’t think I was 5 years old but I also don’t think I was 10. My memory isn’t great so it was just something that happened, at some point, when I was a kid.

Is this what the doctor wanted to know? I’ve no idea. All this is running through my head while I was being questioned. I answered “I don’t know” because I didn’t. Even to the ‘family history’ bit…I’ve no idea what our family history contains.

The doctor advises they want more blood to do more tests. They also confirm – after I ask – that none of the things they’ve mentioned need to start ‘today’. I didn’t want My Lovely Wife to be going from room to room as doctors prescribe various drugs to do various things. I so wanted to be by My Lovely Wife’s side as she is also having to take in all this information.

In a garden, in the sunshine, I feel like the whole of my life is going to change for ever. And I still don’t even know what Williams Syndrome actually means.

But I am worried. So very worried. And I need to make sure that my wife doesn’t know. Not at the moment, anyway.  She will need support and if I’m all falling apart I’ll be no use to anyone.

So Tuesday 9th March, 2021. I’ve no idea what the future holds but I do know that the path in front of us has been nudged off in an unexpected direction.

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