Wednesday, 13 April 2016

Talking about Autism

I've realised that I've focused a lot on Lucy's problems in this blog and I have kind of neglected talking about her autism. This week has had me thinking a lot about it.

I normally love the Easter Holidays but I have to admit that the past fortnight have been the worst holiday yet. It doesn't help that I have poor mobility and we no longer have a car so going out anywhere is more difficult. It's hard to get Lucy out, but when we had the car we could just bundle her in and she'd soon calm down. We have to get her to agree to go out on public transport, and she has to be feeling fit enough to cope with the walking.

So, we've spent a lot of time indoors and cabin fever has arisen. Lucy would be happy to stay indoors if she was allowed to spend the whole time on her PC, but we do have to limit screen time for all the kids. The girls have picked up a new  hobby of customising Littlest pet Shop figures. This involves using clay to make extra parts and painting the figures. I've spent a small fortune on paint, clay and the figures but it's helped to keep them occupied.

The problem is, Lucy gets frustrated really quickly if things don't quite go right. Then she takes her frustrations out on her sister. Her sister has taken to screaming a lot as her defense and to be honest it feels like hell has been let loose.

The girls also had a lot of homework to do over the holiday. Her sister managed to complete hers, but Lucy has barely touched hers despite several attempts and with me helping her all the way. She is worked up about the SATS that she has to sit in May and the way the school is putting pressure on them to do well. She is having to stay behind to school for two hours three times a week to prepare, along with the rest of the class. Well, I should say, the rest of the class are staying behind and Lucy SHOULD be staying with them. She is refusing most days.

The school have made arrangements for her and a few other 'problematic' students to sit the tests in a separate room to ease the pressure on them. We have also had to take a set of spare clothes in, secretly, so that she can change at school if she has an 'accident.' She normally comes home, so she won't be happy if it does happen. It just makes me feel sad that this has to be done.

I'm thinking now whether hoping to keep her in mainstream as she moves on up to secondary school is just a pipe dream. In reality I have no choice as there is nowhere else for her to go. She's not autistic enough to go to a special school, and if she did, would she ever achieve her full potential. One difference I have noticed between Lucy and her Aspie older brother is that he was much brighter at school. He didn't find the work difficult, just coping with the school day. Lucy doesn't cope with either. I know she's not dumb, but she refuses to learn sometimes. I was trying to do her maths homework with her and she was just not taking any of it in. I know maths was never my best subject, but if you don't listen then you don't learn, and Lucy just doesn't listen. She is much better at English, she reads perfectly and understand everything she reads. But she doesn't like writing, and English involves a lot of writing.

One of the advantages of being at a 'not very good' school is that there are a lot of children just like Lucy there, but is that a good thing. It means she doesn't stick out like a sore thumb, like her brother did. But it also means that she has not learnt anything about controlling her behaviour to even begin to try and fit in. She complains about being bullied, but when we question her we can see that it's not bullying. She says the other girls don't like her and make fun of her, but her teacher says otherwise, and we've asked her to keep an eye on them. Ok, maybe the teacher doesn't see everything but Lucy does seem fairly happy at school. She just likes to keep us on our toes with her complaints.

The sleeping problem continues. Even her little brother goes to bed on his own and to sleep without any bother. Lucy, however, has us taking her back to bed for at least three hours after initially taking her up. Even then she always ends up in the spare bed in our room. We are going to remove that bed soon. We only had it for her little brother while we were sorting his room out (Which was the last room to be done after we moved in.) However, since she's been coming in our room we've been reluctant to get rid of it because it has saved us from getting up time and time again throughout the night. Not only that but I can't actually keep getting up as it's far too much effort for me to get in and out of bed now that I am disabled, so it's all down to her Dad. We do need to remove it though, she has to learn to stay in her own bed.

So, that's where we are right now. She's struggling with school, with sleep and with maintaining a relationship with her sister. Her meltdowns are becoming more frequent and she thinks everything revolves around her. She never understands how her behaviour hurts or upsets others.

We should be seeing the psychologist again soon, although we don't have an appointment yet, then maybe we can talk about how things are going and work out a plan to help her. I may even give the clinic a call and see if she can be fitted in sooner. We definitely need to talk to someone before  she goes to secondary school.

Sons, Sand & Sauvignon

Saturday, 26 March 2016

Report from the Geneticist.

Today we had an initial report from the geneticist we saw in February.
It says that she looked at Lucy for signs of a connective tissue disorder. She found that she has some mild facial features of a connective tissue disorder, a mild curvature to her spine, her skin was soft and she had lax ankles but her overall joint hypermobility score was only 2/9.

She believes that Lucy's history is in keeping with a diagnosis of hypermobile EDS but wants to exclude other connective tissue disorders. She is requesting a heart and eye assessment.

Lucy has long limbs, long fingers and toes and with her facial features and curvature of the spine it looks like she may have Marfan Syndrome. This could mean problems with her heart in the future and this is why she needs a heart assessment.

We've never really thought there was any reason to think their was anything wrong with Lucy's heart or eyes. However, I can see why the Dr wants them tested, and if it is decided that she has Marfan Syndrome then they will keep an eye on her heart.

I'm not sure how I feel about all this. I was happy that we were referred to the geneticist because at the end of the process we should have a definitive diagnosis. I really thought that she had hypermobility type EDS and I was looking for confirmation of this. It surprised me that she wasn't found to be as hypermobile as we thought. She could still end up with this as her final diagnosis as she does have some hypermobility and has suffered subluxations.

We knew that it was possible that she might have a different type of EDS which is why we thought it would be good to find out now rather than later. To be forewarned is to be forearmed, so they say. Now I find myself struggling to know if I will be able to cope if there is something more serious to be worried about.

There is some cross-over between kyphoscoliotic EDS and Marfan Syndrome, and genetic testing can be done to find out if either of these are present. With either one there are physical features which lucy is showing as well as some hypermobility. Both of them can present cardio problems and eye problems.

After all she has been through already I'm hoping that her physical features are just coincidence and that nothing else is found.

Wednesday, 2 March 2016

Back to the Poo Doctor

Well, we managed to give Lucy a clear out over the Christmas holiday. It wasn't pleasant, I'll spare you any details. Anyway since then she's been on Movicol twice a week to keep her going regularly.

Yesterday her dad took her back to the hospital to see the gastro doctor and basically he's shaking his head as he doesn't have a clue what's wrong with her. Her blood tests came back normal and he can't give us any answers. He's not wiping his hands just yet though. She's been referred to occupational health and he's also asked for her to be seen again by her psychologist.

I really hope they are not going down the road of it all being in her head. We've been there before, we've tried every trick in the 'psychology' book, more than once. It may be a combination of physical and psychological but it's definitely not all psychological.

I know the best way to treat this sort of problem is to evacuate on routine, i.e. at certain times of the day. Ironically, it's what I'm doing at the moment as I have complete lack of sensation in that area. It does seem to be working for me but our main problem in getting it to work for Lucy is actually getting her to sit on the toilet unless she's desperate to pee, or has soiled herself. Try and get her in the bathroom when she doesn't want to go in and we have meltdown city.

So at the moment there doesn't seem to be much hope, but I won't accept that, I'm forever hopeful.

One day we will know why this is happening and someone will come up with the answer.

I hope that one day is soon, at the very least before she moves up to secondary school. Her accidents at school are becoming more frequent. In fact I would say she has got much worse in the last year.

I just really wish that the Doctors would look at my zebra and stop thinking she's a horse!

Saturday, 20 February 2016

Is it in the Genes?

Elher's Danlos Syndrome can be inherited. It also has several types many of which can be recognised by a person's genes. This is why Lucy was referred to a geneticist, to see if the condition runs in the family and to see if she could possible have one of the other types of Elher's Danlos Syndrome which could cause her more problems in the future.

Lucy is currently suspected to have Hypermobility type EDS.

Last week we had our first visit with the geneticist. Lucy was given a physical examination and as well as her hypermobile joints it was discovered that she has a slight curvature of the spine. She will also need her heart scanned and her eyes tested.

Her full history was taken, as was the relevant history from family members. Particularly from my side of the family. We already know that two of her sisters and her little brother are hypermobile. I am also hypermobile, or I was until I suffered from TM.

We were told that the process could be very long so we won't be expecting answers soon. It's really good to know that she is being cared for properly now though. Whatever is found, if it's bad it will be found in good time to make sure she has the proper help and treatment. If it's not so bad, then we can be more relaxed about the future.

In other news, Lucy has had her mobility allowance stopped. It doesn't surprise me as the bar has been risen for applicants. When we first applied she had to be unable to walk a certain distance without pain, now she has to unable to walk, or virtually unable to walk. I've been pressured to appeal, but as Lucy seems to be doing quite well at the moment I don't need to stress too much. There is a chance that she could get even better, or a lot worse, but at the moment I'm happy that she's coping. She's even managing to walk to school and home, not without complaint, but she's managing it.

Wednesday, 27 January 2016

When Your Carer Gets Sick!

Both myself and my partner care for Lucy, she is definitely a two man job some days.
This year we have had to cope with more than our fare share of problems.
Lucy's Dad lost his Dad on December 30th. It was a huge shock and obviously the whole family is grieving.
Then on January 1st, I went into hospital with pins and needles which were so severe they made me feel numb. By teatime I was paralysed from the waist down and both my arms by a spinal inflammation and a rare condition known as Transverse Myelitis. I am recovering now, with most of my strength back but still no sensation, particularly in my legs which means I am not walking unaided.
So poor Dad has had to cope alone with all family issues, looking after Lucy and looking after me too! All this on top of his grief for his Dad and having to arrange the funeral.
But this is a blog about Lucy and I've observed how this has affected her.

She wouldn't visit me in hospital, having spent so much time in hospital herself she avoids it when she can. Dad did manage to bring her once (I was confined for twelve days in total) and she sat with her coat on backwards and the hood over her face. She cuddled me like this too, saying that she didn't like me smelling like hospital. Her main sensory disorder is smell, she is very sensitive to it and there are some smells she really can't stand. I think mint is the worst. She wouldn't stay very long so it was lucky that her uncle (And Godfather) was present and he took her out to the shop while Dad and her siblings stayed a little longer. This was her autism and how she deals with things.

The lady in the opposite bed to me on the ward had an autistic nephew who was higher on the spectrum than Lucy and non-verbal. He was happy to be on the ward though and played happily with the toy his mother had brought with her to occupy him. Then she took him to the toilet which was past my bed and he spotted some chocolate on my table. He made a grab for it and when his mum stopped him he went into complete meltdown. His mum had to take him off the ward until she could calm him down. I would have happily given him my chocolate but it wouldn't have taught him anything. Even non -verbal autistic children need to learn right from wrong. It was obvious his mother agreed.

Comparing the two children, Lucy and this little boy, you could see very different aspects of their autism. Lucy does have similar meltdowns, and has done over very simple things, but she couldn't cope with being in the hospital, Whereas the little boy was coping quite well until the chocolate incident.

I think Lucy coped at home very well without me being there. That comment both hurts me a little but also makes me feel confident that she'd be okay if anything serious did happen to me so it's also a relief. Since I came home she's been quite happy continuing in her routine with her Dad and hasn't missed my input at all. In fact she barely takes any notice of me, not like the other two who have to come over for a kiss and cuddle when they get home from school. Lucy is more interested in her PC.

I have trouble getting up the stairs so I've not been taking the children to bed and the two youngest have complained a little. Not Lucy though, she hasn't even mentioned it. The first night I was home and had been helped to bed by her Dad, Lucy woke up like she normally does and came to me for help to re-settle her. I couldn't get out of bed so I had to call Dad to help. Lucy hasn't bothered me since.

So, although things have changed it's not affected Lucy as her routine is still the same. It hasn't bothered her that it's not me doing things for her so long as it's done.

I believe she is coping a lot better than I am!

Wednesday, 23 December 2015

Another Appointment with the Poo doctor!

I never feel really comfortable talking about poo, and yet it seems to dominate my life!
This week we had another visit with the gastro doctor at the Children's hospital. It was a 6pm appointment just 3 days before Christmas, so we went into town early to have a browse and look at the decorations. The kids were not really all that interested though, but it could have been because of the rain. We did go into the church and light some candles for lost family members, including the two cats this year. The kids loved the nativity scene, despite the characters not having faces.

Anyway, onto the appointment. Back in October, Lucy was put on a high dose of Movical to clear her out. We didn't manage to get it to work. It took five days before there was any sort of result at all and then the school break was over and I didn't want to risk her getting loose while at school so I stopped giving it to her. So, now it's the Christmas holiday and she has two weeks before she goes back to school so we are going to try again, but with an even higher dosage. It's going to be a smelly Christmas. She also has to go back to the hospital for blood tests next week. The Dr wants to rule things out to find what her problem really is. Lucy isn't happy as she has developed a real fear of needles, but I'm sure we'll get through it somehow, perhaps with some bribery.

In other news, Lucy's class is going on a residential trip in the summer. It's not the first time she's had the chance to go, but it's been four years since the last one. I've had to turn this trip down for exactly the same reasons as the last one which makes me feel sad as it shows there has been no improvement in that time. In fact things are much worse now. We not only have the incontinence and sleep problems to worry about, but also the fact that we would be worried sick about her getting hurt. She fractured her ankle stepping off a very small stage during a school concert, the school didn't even know she was could we be sure she'd be ok away from home. Lucy is fine with not going, part of her would like to join in, but she knows she wouldn't be able to cope away from home.

Which brings me to my worries about secondary school. I know we have chosen the right school for now, but I'm really not sure how she is going to cope. All along I've said we will have to give her the chance of a normal school life, but if it goes wrong we'll take her out and find another option. Now, I'm concerned so much about the if it goes wrong part. If it did, would it be something she'd ever get over even if we did intervene?

Thursday, 3 December 2015

Two Years Ago

It's strange when you look back at the things that have happened and review them with the knowledge you have now.

This time two years ago Lucy was in hospital having had a manipulation of her cervical spine and a halo fitted for the first time.

We had no idea what to expect and that is why I set up this blog, so we could record the journey and hopefully let others know what to expect if they found themselves in a similar situation.

In August of 2013 Lucy woke up one morning with a sore throat. I took her to the GP who gave her some anti-biotics. The next morning she woke up with a twisted neck. I took her to the GP who said she had tonsillitis. I wasn't happy so later that day I took her to A&E where I was told she had torticollis and it would get better in 48 hours.

It didn't. Two days later I took her back to A&E but they were still insistent that it would get better by itself, although they were a little concerned that she was hypermobile. At this point she'd been given a CT scan on her brain to check for meningitis.

Two days later I took her back to A&E and they gave her scan on her neck where they discovered a rotational subluxation of the atlanto occipital joint. I was told it wasn't much to worry about. I was fed up of being told it was nothing to worry about, I couldn't help being worried, my little girl was a twisted mess of pain and no-one was doing anything to help her!
I was sent to see a consultant. While waiting (4 hours) I was thinking about all that had happened and all that had been said. Over and over I'd been asked if she'd had a fall, if the neck had suffered a trauma. Over and over I said no, because she hadn't and then they'd just walked away uncaring. So I tried something. When I saw the consultant he asked, has she had a fall recently, I replied 'she fell off her scooter last week but I didn't think she was hurt'
She was admitted to hospital straight away.

I didn't lie. she had fallen off her scooter the week before, she was always falling off her scooter. She had bruised her knee quite badly but not hit her head or even her shoulder. I'd been right next to her when she fell. I was sure the fall had not caused her neck and I did tell the consultant that, but the simple fact that she had had a trauma recently completely changed things.

We know now that Lucy has Elhers Danlos Syndrome, she was diagnosed this year. This means that joints can pop out of place without trauma, which is what I believe happened to her neck. However, it's now on her records that it popped out because she fell off her scooter.

I had a long e-mail conversation with an American neurologist. I found his details from trawling medical documents about cervical subluxes. He told me that her sore throat could have been significant. There is a condition called Grisels Syndrome which can cause this type of subluxation in children after a throat infection. It's more common in children with hypermobility, or lax tissues.

So, two years ago today we were in hospital with Lucy recovering and as parents we were beginning a long journey that we had no idea where it would lead.