So, I've been rambling on for a few days now and have shared with you the diagnosis of both Harrison's heart and genetic conditions. Before I launch into the next part of our story and bombard you with more symptoms and the start of his surgical journey, I wanted to share a friend's story.
Keith was the treasurer for our charity (The 22Crew) and along with his wife, Colleen, also a good friend. He was the kind of person who could always put his point across in a calm and measured manner, however difficult the situation. You could trust him implicitly and know that if you asked, you'd always be given great advice.
Back in 2014, Keith wrote some blog posts to increase awareness of 22q11.2 Deletion Syndrome. In addition to sharing his family's story, he also discusses some of the symptoms. I thought it might give you a good overview and lighten things up a bit. Keith sadly passed away nearly three years ago but Colleen has given me permission to share his posts with you in my blog. I hope you enjoy reading another parent's perspective.
To date, despite my best intentions, I have so far not managed to get round to it.
Now I have no excuse.
22q Awareness Days is a campaign which aims to enhance the general public knowledge of the genetic condition 22q11.2 Deletion Syndrome over a period of 22 consecutive days from 27th April 2014.
22q11.2DS is believed to be the second most common genetic condition after Down's Syndrome.
Most people know something of Down's Syndrome but very few have ever heard of 22q11.2 DS.
This is a condition which affects my daughter Sarah and I thought it would be a good idea to share my family's experience of 22q11.2DS and hopefully bring knowledge of this condition to a wider audience.
My objective is to write a post each day for the next 22 days and I hope you will join me on this journey.
Sunday, 27 April 2014
Do you know what 22q 11.2 Deletion Syndrome is ?
If you had asked me this question nine years ago I would not have known the answer. Was it some kind of chemical formula or part of a mathematical equation ? To be honest nine years ago did I really care ?
In spring 2005 my wife Colleen and I were more focused on the arrival of our baby. We had got married the previous year and not being the youngest of newlyweds had decided to start a family straight away. With the biological clock ticking the big concern was the risk of Down's Syndrome which as everyone knows is more common where older parents are concerned.
So early in Colleen's pregnancy we went off to King's College Hospital for a nuchal translucency scan which measures by ultrasound the fluid at the back of the neck of the foetus. This measurement is then used to predict the risk of Down's Syndrome.
We were told the risk was within the normal range and the scan was OK.
Like all prospective parents we were hoping for a healthy baby. Having had the nuchal translucency scan we had ticked the box for Down's Syndrome, so no need to worry about a chromosome abnormality!!
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| King's College Hospital, London |
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