May is Williams Syndrome Awareness Month

May is Williams Syndrome Awareness Month.

Williams Syndrome is a genetic condition where part of the 7th chromosome is deleted. The amount of deletion can vary in but it is always of the 7th chromosome.

Officially it is about 1:18,000 chance of having a child with Williams Syndrome however as it is only a confirmed diagnosis when the deletion is viewed in a DNA test, it is possible that there are a number of people who carry the deletion and are unaware.

As a comparison, Downs Syndrome has about a 1:1,000 possibility (increasing with certain factors).

With May being the Williams Syndrome Awareness Month I wanted to bring to your awareness Williams Syndrome. 😀

You may remember, the lockdown of 2020…. I know I did. The wife and I were enjoying WFH a bit TOO much and before we knew it, baby number 2 was on the way.

Everything was looking typical until the last official scan. At this point the baby was not tracking against the typical growth chart. This was something we had seen with baby number 1, where we were advised about restricted growth, booked in for an induction at 37 weeks, and ended up with a chonkosaurus!

When they told us about restricted growth with baby 2 it felt like a similar pattern. We got booked in for an induction at 37 weeks and expected the same. The big difference this time was that due to Lockdown, My Lovely Wife had to go through the induction (which was 5 days with baby 1) by herself with no visitors.

Still, she is a hardcore Mo-Fo so took it all in her stride.

I got a call saying ‘everything is moving, get over to the hospital to witness the birth, you’ve got a couple of hours’ and then 15 minutes later I got a video call meeting baby number 2. 😀

As there was now an actual baby, I would be allowed into the hospital but only for two hours. When I arrived it was obvious that things were a bit ‘different’. Not only about covid security, but also the baby. The baby was small. Not the smallest (a family friend had a 2lb baby!), but small. And this baby wasn’t feeding.

Baby number one loved a bit of boob and we expected baby 2 would be the same. This was not the case.

Additionally, they offered to do a full genetics test for reasons that aren’t too important. We agreed, and went back to learning how to finger-feed newborn babies.

My Lovely Wife and Baby 2 weren’t allowed out of hospital for 5 days. I was allowed to visit for 2/3 hours a day. The doctors explained it was more a precaution as if the baby needed to be rushed back, they risked bringing covid back into the ward, so were happy to keep Mum and baby in for monitoring. On day 5 it was obvious that the environment wasn’t doing My Lovely Wife any good, finger feeding was going well, and so we asked to be discharged on the understanding we’d call 999 if anything changed.

Slowly Baby 2 started growing. The line in the red book was so much lower than the graph was expecting, but growth was there.

7 weeks later we got an appointment letter through the post. Due to lockdown we knew that only one of us would be allowed in so My Lovely Wife agreed to go in and I’ll sit in the carpark waiting for a call when they are finally seen.

I have some notes from that call…let me share them.

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

When you have a 7 week old baby, these are not things you want to hear.

Then the real kicker was asked….

“Have you got any questions?”

Have I got any questions? Yeah, like WTF is going on? The doctor explained she could give us some leaflets and its probably best we google it.

GOOGLE IT! FFS!

My Lovely Wife returned to the car and we were both shell-shocked. A lot of fucking Googling happened that day.

The next few weeks were a blur. You may have seen lots of Facebook live videos of me next to the Thames and the Houses of Parliament. This was because there wasn’t a week that didn’t go by with us having to go for hospital tests, medical check ups, various things. I *think* we averaged about 1 visit a week for the first year. It was very hard.

Being fairly rare (1:18,000), meant that most doctor/medical meetings started with…

“….I’ve not had time to read your notes, so please tell me what is going on, in your own words.”

This frustrated me more than anything.

Well, nearly more than anything.

One consultant said to me (in discussion of a surgery needed), “well you probably know more about it than I do.” Go Fuck Yourself, Mr. Consultant!

I think we’ve met 2 medical professionals who have met a Williams Syndrome patient, but more often they haven’t and their colleagues haven’t.

I will also tell you of the day when they made a baby with feeding issues go without food for 8 hours. No food/fluid for 8 hours. Once again, My Lovely Wife was amazing but fuck all those people and the horses they rode in on.

But it isn’t all dreadful.

We are now at 16 months. Baby Number 2 is growing bit by bit. Williams Syndrome babies are given a blue book to go with their red books. This gives Williams Syndrome typical charts to measure against.

They have also started at Nursery, and although a bit behind on development, they are learning and developing more and more each day. We are so close to crawling forward its unbelievable and I think it will happen in the next week or so.

Williams Syndrome is a genetic disorder with different amounts of deletion that can affect each person in different ways.

We have joined the Williams Syndrome Foundation to get more help, support and knowledge. They have been invaluable to both My Lovely Wife and I. We have now met IRL other parents of Williams Syndrome children and have been able to talk to people who understand what we have gone through and are going through.

For the month of May I wanted to do what I could to raise awareness of Williams Syndrome so I am starting this by sharing our story with you all. I will also share some videos and pictures during this month. Feel free to ask any questions if you have any. I can’t promise I can answer them, but I will try to.

Leave a Reply

Related Post