Yesterday we had the appointment at the genetics clinic at the main hospital (well the women's unit over the road - they also run clinics for genetics there).
I had my mum in tow to help me with J as I knew he would be a handful and also I wanted to be able to chat to the ladies (there were two geneticists at the appointment) without too much distraction.
We had the first appointment of the clinic session and they had also put us into the adult clinic (hence why we were in the womens hospital) so as to keep any stress to a minimum.
Unfortunately for us the ladies were late arriving for clinic and so when they walked in 20 minutes after our alloted time J was quite hyper and screamy and of course we had the obligatory stares from the old bats waiting at the reception desk to book in.
So when finally called through J was whooping and hand flapping manically.
We talked about his life, milestones, his behaviour, his sleep (or lack of it) and his general health.
After 45 minutes he was calmer but was getting cabin fever. Thankfully he allowed one of them to examine him. And by examine I mean he held his hands out for her to look at and took his socks of for her to view his feet - not a major exam.
Then it was suggested we went over to the main general hospital for the blood tests there and then.
I was happy to try, if a little cautious. I explained we could'nt be left waiting around for ages over there as his patience is not strong (and neither is mine in that situtaion).
They telephoned the specialist unit for children who said they were fairly quiet and to come over and they would slot us in.
So all three of us trotted off over the road.
I was full of uncertainty and doubt.
J was happy that we were going past lots of shops (within the entrance lobby of the hospital) that sold "cola cola cola".
Into the unit and it was indeed quiet. Just two other children waiting with their parents.
Before I had even said who we were the receptionist said "Oh you are from genetics, come on through".
For the first time ever I had to get a urine sample from J. That was fun! He kept on backing away from the toilet when I brought the container close. But we did it! He filled it up and covered my hand and surrounding seat as well! And yes I did clean the toilet seat properly (and my hands!), I would never dream of leaving a mess for someone else.
It was decided he would only have the numbing spray and not the cream as the cream takes 20-30 minutes to work and I was not happy to hang about that long and make him more nervous and hyper.
Into the special room and there were three nurses, a large orange highbacked chair, a stool and all the equipment. A t.v was playing a DVD in front of where we had to sit.
I had to sit on the orange chair with my feet up onto the stool and J had to sit on my lap.
They tried for a few minutes to find a good vein in his left arm but to no avail.
So they swapped sides.
He was quite shouty and was pushing me back.
I nearly fell backwards off of the chair, with J.
All his pushing around made my right hip lock and go into a spasm kind of pain, but I kept my grip on him!
Everyone was singing songs too to keep him as calm as we could. A fantastic rendition of Twinkle Twinkle, Old MacDonald, Wind the Bobbin Up, and Head Shoulders,Knees and Toes was sung out loudly and in perfect tune by all of us, including J! I managed to keep a hold of his head so he could'nt look sideways and see what they were doing.
My mum then whispered to me that she could see they were getting blood out of him which was a huge relief as I then knew we were going to make it and it would soon all be over.
These women were amazing. Angels infact. They are an inspiration and should be made available to all children needing blood taken. When it was over I wanted to kiss them as I had such a huge sense of relief wash over me and was just so happy that it was done and dusted and we would'nt have to come back another time.
After our last experience (which was at a different hospital) I was so sceptical and negative that he would have any blood taken unless sedated that I really never believed it was possible. But it was and it was'nt as bad as I had been expecting.
We now have to wait two to three months for the results as they are snowed under and covering another area as well.
The geneticists still reckon it may be this SMS as after having observed him in the flesh he portrayed many of the signs of it. But as I have maintained all along the results do not change his life expectantcy or his future. He will still be dependent on adult carers and supervision for life. There is no cure. But, if it is genetically linked then it means my other sons will have this knowledge for their future (obviously not explaining it to them now!) and when they are thinking of starting a family they can choose whether to go for genetic counselling and the like. I will be giving them the choice to make the decision for themselves.
