The Blood Test and Genetics Appointment

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.

Appointments

Is'nt it ironic (don't you think ) that we wait months and even years until we get an appointment for so and so specialist for which we really really need to see, but the appointment that we did'nt really want, and can not really utilise comes through in days!
J has awfully flat feet like myself. So bad that the knees and hips are affected and it makes walking painful, running a farce (I look like a duck when I run, but with less grace) and cramps in the fallen arch.
The paediatrician had said she may refer us to podiatry, but I said it would'nt be much help as he would'nt sit still for longer than a milisecond and as I know full well you have to have casts taken of your feet, people wiggling your feet about, you have to walk up and down for them to see just how ungainly you are etcetera.

So what happens? I get a call from podiatry who say they have a cancellation that day and can I bring him in?
I very kindly explained why we could'nt make it :- School, no one to collect O from his school, an appointment slap bang in the middle of all the others, a baby in tow, a non verbal, scared and loud child.

I think regular readers of this blog will be able to understand fully just what J would be like in the middle of a waiting room, full of strangers, waiting about, not understanding what is going to happen, stressing out, shouting, head banging, screaming, laughing wildly in peoples faces, hitting me, and then finally when we get seen he runs for the doors, yelling, kicking, screaming and panicking that he is going to have some dreadful procedure implemented upon himself.
"Oh" is her reply. "Shall I just cancel it altogether then?"
"Yes please" I said.

I will just have to help him as best I can. I am sure some would say I should force him to sit and go through with it all, but have a look further down the blog where I talk about blood tests and then tell me it is fair for him to endure such encompassing panic and fear and still gain nothing from it.


And then by way of miracles I get an appointment through for the occupational therapist!!
Hurray!!
Only seeing as we have been 'at the top of the waiting list' for what is it now, two years (?) it was a shock.

And then bam I look at the date they have given. Right in the middle of our holiday! How flipping surprising.

So I telephone. And the person I am seeing is on holiday until the day before she is due to see us.
What am I to do?
I telephone back. I speak to someone who seems more keen on being unhelpful than helpful. I explain I do not want to go back onto the waiting list as it is not fair to be given an appointment in the summer holidays as it is known a lot of people go away at this time. Finally after wading through this womans almost horizontal work ethic I get given an appointment for when school is back. I felt as if I had swam through treacle in getting that sorted.

So we have an appointment. I wonder if it will be worth it and a valuable asset after all this time and prolonged wait? You know you will be reading about it here at some point in the future, so watch this (blog) space.

Anywhere but the bedroom

J really does not do things logically sometimes.
The old mattress from the old broken bed in his room is sitting idly in the 1st floor lobby area by the stairs that lead to the top floor. I am not strong or brave enough to lift it up those stairs by myself and as the only men in my house are all under nine years old and two of them are dogs, it is waiting until a knight in shining armour appears and helps me (along with 1001 other little DIY jobs needed doing).

I keep on finding J tucked up on the mattress, which he has tunred from vertical to horizontal along the lobby corridor. Not at night time, but through out the day. His lovely comfy new bed is sitting unused in his bedroom (and being mooned over by his middle brother who "really really wants a bed like that" ).

He does'nt detest his bedroom or have a fear about it as he spends time in there in the day and early evening,  it is just when it is sleeping time that he makes a hasty exit and settles down on the top of the stairs or the sofa.

There is no update as yet on the melatonin as the chemist did not have it in stock and so had to order some in. I do doubt that he will actually sleep in his bed in his room even after the melatonin, but then the reason he has been prescribed it is not for where he sleeps but rather what time he goes to sleep and the difficulties he has in doing that. I am sure I will be adding an entry in the near future about how it either helps him or has no effect whatsoever!

New bed and the new word

So the new bed arrived. I got a small double this time so that J would have more room. I also chose a pillow top one so it is softer.
After one portion of the base arriving damaged we had to wait another week for the replacement.
The bed was made up, dressed with sheets and pillows and looked lovely.
Would he choose to actually sleep in his bed in his room now?

No!

He went to sleep on the top of the landing stairs again.

Next night he played in his room happily and watched his Bear DVDs. Come bed time he clattered out of the room, bed cover draped over his shoulder and dragging behind his stomping feet thudding down the stairs.
He settled himself on the sofa and went to sleep.

Now remember his sleep is not regular at all. And so when I say he went to sleep, I don't mean at 8pm like a lot of nine year olds, no I mean at his usual time of giving up, around midnight.

I have finally got the prescription form through from the GP today so am collecting his medicine tomorrow.
I am in anticipation over whether it will have any effect on helping him to get to sleep.
Melatonin has been a long drawn out battle to get prescribed and I really do hope it helps him to go to sleep as the boy is growing fast and needs the energy to do so.

Now to traverse away from this topic I thought I would share an anecdote that occured earlier.
J is echolalic as I have explained before. This means he can parrot words said to him (not sentences though) but has little understanding of what he is saying.
He arrived home from school, having been dropped off by the transport van (that carries a couple of other children as well). He walks into the hall way and announces straight off   "oh  f*** it". He did'nt use it purposefully, rather that he had just heard it being said. I wonder if it was the van driver as I am sure the female escort that sits with the children in the back of the van would not speak like that.
I've never heard him say that before and did my best to ignore it and not give a reaction. O my middle son knows it is a rude word and so did'nt need telling so.

Mind your language please!

Tough Talking.

Something a few people have learned over the past week is that I will never allow my children to be sidelined or put into any danger.
I can not discuss it here for legal reasons, however, there are people with jobs out there who mistook my son being disabled as an excuse to not treat him or me with any kind of respect or decency.
I have been going through a very hard experience to deal with and at no point was it made easier or acknowledged.
I had to write down what my thoughts and opinions were as no-one in power was wanting to listen - they had closed the door and pulled the shutters down.
What I wrote was written from my heart. I did'nt have to think about what I was writing. It just flowed. And boy did it flow. I wrote an essay it would appear. But it was what I needed to do. And it was what was needed for these selection of people to hear. And hear it they did. And from what I have been told it made an impact upon each and every one. Some of them have been in their job for many years and have experienced this situation on many scales and so are hardened, but they forgot that us little people, the people that are still affected by the situation, do matter, and more fool them for dismissing me.
Many sleepless nights and tearful moments have engulfed me over the last few weeks but finally I have some closure, some answers, and some respect.
Considering it was centred on J and not me, he had no real understanding of the severity, or could communicate to me any happenings, and so it made it hard for me to deal with.
My boys will always be my priority. Always be the focus of my life. Never be dismissed. Always be made to feel safe and secure. And woe betide any person that thinks they can come our way and destroy that.