Day 8697

Can you imagine having:

• a complex heart condition that requires ongoing surgery; 
• gut problems that mean you need to be fed through a tube; 
• reduced immunity to infections; 
• speech difficulties where people can’t understand what you’re saying so assume that you’re not very intelligent; 
• learning differences which mean that you find it difficult to keep up in class; 
• social problems where you can’t interact with your peers; 
• recurring anxiety that prevents you from making the most out of life? 

Most people with any of these problems will have just the one but individuals like my son can have all of these at the same time and more besides. How would you feel to be him? 

This is Harrison. He's 23 years old and was born with 22q11.2 Deletion Syndrome (aka 22q DS).

Why have I decided to write this blog?

When I woke up today, I didn't know that I was going to do this! It's time for me to take the bull by the horns because today is the start of 22q awareness month. Over the years I have sometimes posted snippets about the condition on Facebook and shared other people's stories and experiences but now I suddenly feel ready to offload nearly 24 years worth of my own! I've been part writing posts and saying that I'll put everything in a blog for several years but I've been wrestling with the 'right time' to release it all. It feels like it's now, however part of my hesitation has been that I've got so much to share and comment on that I'm worried that I won't be able to keep up the momentum. I'm going to do my very best and hope that my ramblings give you a much better insight in living with a condition that loves to keep on giving! 

As you can see, the title for my blog is, 'It's Really Not Doom and Gloom!' That's in response to the diagnosis 23 years ago when so little was known about the condition and it was considered extremely rare. There are times when I've been delighted, frustrated, angry, upset, proud, desperate and genuinely happy with the way our lives have panned out. I hope I can convey this to you and that you enjoy learning about 22q deletion syndrome and all of the symptoms we've experienced. My ultimate aim is to bring some understanding in the general population but mainly to provide support, guidance and hope to the thousands of other families who follow behind us in their own 22q journey.

It is true what people say - as time passes the memories really do fade. Harrison's early life is now becoming a more comfortable distant memory. That's only because we've come out the other side. Living through those early years was an extremely challenging experience with no end in sight. I'll highlight some of those times and explain the decisions we made and the impact they had. 

As a family we’ve always tried to look at 22q DS as an opportunity rather than a curse. It’s been far from easy but it hasn’t been all bad either. 22q DS will remain a challenge throughout our lives but because of it, we’ve experienced things that we may not otherwise have considered. We’ve also met (both virtually and face to face) some amazing people and made many lifelong friends which would never have happened without 22q DS. 

What’s going to be in this Blog?

I’m going to write a bit about key points in Harrison’s life that have been impacted by 22q DS. I’ll do a brief timeline of the past twenty-three years and then go into more depth on some of his specific symptoms. I'll include photos and videos so that you can see how he’s developed, and where appropriate, pertinent comments from developmental and therapy reviews. 

I've always taken the approach that ‘life’s not fair but we don't have to accept that this is the way it will be.’ Even now, I look for ways for Harrison to reach his potential in all areas of his development. I’m not saying our way was the right way, but it was right for us. Every family has different personal circumstances and every individual affected by 22q DS will have a different collection of symptoms. However, with an open mind and being signposted to information that may help, you will find the answers you need. 

Whatever I write isn’t going to suit everyone but I'll try my best! Whether or not you're personally affected by 22q DS, I hope that this blog provides useful information; practical suggestions; inspiration; hope and entertainment. 

Let me know what you'd like me to write about. I’m also keen to include guest posts so please do contact me if you have something relevant to 22q DS that you’d like to share.

Thank you for reading!