I did what I hate most in the world, wrote one of those posts and did not give anything else away. I’m normally a fairly private person so I tend not to get upset in public or the great big jungle of social media or online jungles, however, this is something that is going to feature heavily in our lives for some time to come.
On Tuesday I got a phone call from the CDC (Child Development Centre) to discuss Liam and the next stage of his care. I took in a lot of information. Wrote notes so I could tell his teachers the current story, did a little reading up on what it all meant and took it all in ok.
So I thought.
Fast forward to Wednesday morning, I wait until most parents have gone and speak to Liams teacher at the door.
“I had a call back from the CDC yesterday and…..the blood tests have found a problem with a certain chromosome in Liams genetics”
Cue, the holding it together, the being brave, the “this is fine if I do it matter of factly” and all that bravado just falling apart.
Trying to explain I break down in tears, get ushered through to the staff room swiftly followed by Mrs F and Mrs W to be handed a big strong coffee with sugar and a chance to talk things through.
Liam has been found to have an issue with Chromosome number 8. To cut a long story short we are awaiting an appointment with genetic specialists who will explain fully what it all means and both hubby and I will need testing to see if it’s a hereditary issue or was a problem that arose in pregnancy.
What I have managed to find out, is that I think we have got to the bottom of Liam being so behind and why he is so socially anxious.
8p23 deletion syndrome as the medics call it is a rare condition in which part of chromosome 8 has simply not fully developed somewhere along the way. The symptoms are classically Liam:
Early months struggling to feed normally due to high palate or/and weak muscle tone – We assumed he ate little because of his hernia.
Finding it hard to chew with back teeth.
General speech difficulty finds it hard to make the right sounds regarding speech due to muscle tone.
Mild to Moderate learning difficulties.
Poor balance and motor skills.
Struggles to ride a bike.
Cannot concentrate or stay still for long.
Anxiety in large groups.
It’s all there.
There are alot of things he excels in which makes me think that he has the milder case of this “abnormality” but he will need a lot of extra help in school.
I’ve always been aware that he’s behind, that he needed a little help, I just assumed that like James he’ll move on and all will be fine.
Even his main teacher Mrs F confided in me that it’s her job to push these things and help the kids who are behind but she never expected anything to be out of the ordinary with his results especially since James’s results all came back clear.
Him needing help wasn’t the shock, it was just realising there is a real issue here and it might not just be something he will grow out of.
So next step is me and hubby to be tested and Liam needs a heart scan as 1 in 5 with this genetic disorder have heart issues. I’m not too worried about that as he’s had 2 ops and I’m sure they would have noticed something if there was a heart problem during or before those operations.
I’m also asking for Matthew to be tested as the official leaflet says in the early years it’s often overlooked as people try to find answers for the behaviour shown and there are a number of kids who were wrongly diagnosed with ADHD before being discovered to have this genetic failing.
I don’t know how many kids have this, but according to the Rare Genetic “Support Group” I have joined, there are only 6 adults with this condition in the UK. Mostly because testing for this is relatively new and 3 of those were diagnosed when they were fathers due to the child being diagnosed with the same issue. The other 3 are at university living normal lives.
Life expectancy is normal and I am currently awaiting to be added to the group to make friends with other parents in the same position.
It has been estimated to affect 1 person in every 64,000. Always knew Liam was a special baby but wow – the odds on that!!!!
None of the information is that new. We knew where his difficulties were, I just honestly didn’t expect it to be an official medical issue and actually talking about it is so much harder than I expected it would be, even with people who understand him.
I’m much happier with the idea now it’s sunk in and deep down I know this diagnosis will only help him further and speed up the help he needs. I’m just a bit emotional over my little man and don’t want him to go through life with big struggles ahead of him,
The sooner we get this help which will hopefully be a one to one tutor now the better for his future. x