Thursday, 25 August 2016

Happy Birthday Little Zebra

It was Lucy's 11th birthday yesterday. This week her secondary school have been having the new starters in for a summer school. She went in Monday and Tuesday and really loved it. She was looking forward to going in yesterday as it would be the first time she'd ever been to school on her birthday. It was not to be, however, as she decided she didn't want to go to school after all. It wasn't compulsory so to avoid upsetting her we let her have her way.

We didn't plan anything special for her birthday as we thought she wouldn't be here and we are all going out for a big family meal on Saturday. So she had to make do with a birthday shopping trip for school shoes...at least that's one more thing ticked off the back to school list.

Her main present was a drawing tablet for her PC. It's a flat device with a pen, which when connected to the PC it allows you to draw as if you were drawing on paper. It really makes a different if you want to draw on the PC and she's really pleased with it. She really does love her art work and already has her unique style. I'll share something with you when I get the chance.

Today she didn't go into school again as it was her appointment with her Neuro Surgeon at the hospital. She had her scan about six weeks ago to see how things were going. She has had some pain and soreness in her neck so, although we didn't think there was anything wrong, we were anxious for this appointment. The Neuro Surgeon, Mr S. was very pleased with her scan. Everything was fusing nicely. He said the discomfort she had been feeling was probably due to the bone graft fusing and growing along with her other bones, so it's a good thing not bad. He's promised to send us before and after scans of her neck, but we will have to wait and see if they ever appear.

In other news we took Lucy for her cardio appointment last month. They were incredibly thorough in their investigations including an ECG and an ultrasound scan. The results were all good, she does not have any heart problems. Again, we didn't really think she had but all these tests are to help the geneticist in her study to find out which type of Elhers Danlos Syndrome that she has.

The tests are all done now so we will wait for the geneticist to call us back. I'm not sure what she is going to say. She was considering a diagnosis of Marfan Syndrome but that would mean she would have heart and eye problems and she doesn't. It can't be ruled out for a future diagnosis though as these problems can develop later in life.

We still have to contend with her stomach problems on a daily basis too. Maybe one day everything will just suddenly get better, I'm forever hopeful.

The next big step in Lucy's life is starting secondary school just two weeks from now!

 

Friday, 1 July 2016

Lucy's Neck and Other Problems

I'm feeling a little concerned about Lucy's neck. While brushing her hair last night she said her neck was sore. On observation I noticed that there was a lump at the base of her scar. It has always been raised there but now it seems more so and she said it was painful when I touched it.


It's hard to see in this photo, but I took it so that I could keep an eye on it and compare it. If it gets any worse I will push to see her consultant sooner. If the soreness doesn't stop I will take her to the GP and see where we go from there.

She had a CT scan on her neck just a few weeks ago, so if there was something wrong surely they would have noticed and contacted me. Sadly, I know this is not always the case, she's had scans before and the consultant has not even looked at them until her appointment. She is seeing the consultant in August so we will know for definite then.

In other news she is being seen in the cardiology apartment this month for a check on her heart. This was requested by the genetics dr we saw in February as she thinks Lucy might have Marfans Syndrome or another form of Elhers Danlos Syndrome rather than hypermobility. Lucy has already had her eyes checked and they came up clear, so maybe her heart will too. Fingers crossed. 

She is also having trouble with her mobility again. We noticed when we were on holiday that she wasn't getting very far without hurting and it seems to be getting worse. She's complaining whenever they have to walk anywhere at school, for example they walk to the local public library which is about half a mile away. Even if we are doing something fun she will complain, it's becoming more regular.

Her gastric problems are not getting any better and she has had several accidents in school over the past few weeks. I was so hoping we could have had this sorted before September, but it doesn't seem so far away now. 

Finally, her sleeping pattern is really bad again and I reckon she's currently getting about five hours a night :( 

That girl is nothing but trouble  sometimes x

Tuesday, 7 June 2016

We've Been on Holiday!

Last week we took a break to Blackpool. I'm lucky that Lucy is a good traveller as we had to go by train, with a changeover on the way. I was in my wheelchair which added extra difficulty but we managed fairly well.

A few years ago while on a long train trip, Lucy managed to do her thing and soiled herself. I had to open her suitcase on the train and throw her soiled clothes away. I was concerned she was going to do this again so we had a little chat beforehand and she promised she would do her best. Which is all I can hope for really. As an extra precaution I provided her with a pad.

She did it! In fact she stayed clean all holiday which sounds incredibly exciting (well it does for me) but in actual fact she was really constipated. So we had a week of tummy aches and bloatedness but no movement. I'm sure you'll be pleased to know that she got it all moving over the weekend when we were home! *sigh*

Apart from the poo issues, and the not feeling well, and the very snotty nose that got through two boxes of tissues, we had a good time away.

There was the incident where we were going out for the day and she didn't want to go. But the problem was that I'd explained how we were getting there, but not how we were getting back. As soon as she knew how we were getting back she was fine.

And there was the incident where she wanted to play in a pool on the beach and was asking to remove her socks and shoes. She kept asking and I kept replying 'don't take them off yet'. Her Dad was busy getting me out of the wheelchair and I wanted him to be with the kids when they went into the water. However, being Lucy she took me literally. I didn't want her to take her shoes and socks off, so she went into the pool with them on.

She did totally astound me in the swimming pool when she had the opportunity to go into a huge bubble on the water, it's called Water Walking. She loved it and got very competitive when it came to racing, I was really surprised, but also very happy. It was £4 well spent.

She also enjoyed the pottery painting that we did. She chose a dragon and painted it as a character from a game she plays, Undertales. She gave the dragon a lab coat and lab glasses.



She did not like the club, it was too noisy, too smelly, too loud, too dark, too much sensory input which drove her crazy. We only went once for a very short time and decided not to go again.

She loved the circus and the Sea Life Centre, she absolutely adores clowns and informed me " a lot of people are scared of clowns but I'm not." In the Sea Life Centre she looked at everything, read every notice and poster and made sure she completed the tasks required to get her passport stamped.

I think she really enjoyed the break, it's a shame she wasn't feeling so good, but on the whole it didn't stop her from having fun. She really is a little Star sometimes.




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.