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.

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!

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 hurt.how 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?

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.

Another Hospital Visit

Yesterday I took Lucy to see a gastroenterologist at the Children's Hospital.
Lucy has had gastric problems from as long as I can remember and we have tried everything. Her first visit to the GP was before her first birthday and we have talked to many doctors since. She has had her stomach x-rayed and been analysed by a psychologist, but all to no avail.

I don't know why she hasn't been referred to a specialist sooner, maybe it's an age thing? A lot of children take much longer to get sorted with their bowels than we realise. However, she's now preparing to go into secondary school so something needs to be done.

The Doctor was very thorough, beginning with a complete history of Lucy's symptoms and treatments. It wasn't hard to remember, it's always been the same.

Then he examined her and finally we talked about her options.

I'm so glad there were options.

He did give medical terms for some of the things he found but I've forgotten them for now so I'll fill them in when I get the written report. I usually jot them down myself but it just slipped my mind yesterday.

He found a problem with her sphincter muscles which explains a lot. He also identified a psychological problem of her brain not connecting with the need to go, there is a medical term for this. Also, he is concerned about he consistency of her stools so we need to address this.

We are approaching one problem at a time beginning with a complete clear out next week, as it's half term. Not something to look forward to but if it is what she needs.

Then we have to work on the psychological problem by using methods we have tried before that haven't worked, but now I understand why they didn't work so hopefully we can just keep trying. Basically we have to have a routine for going to the toilet. We have tried this before in the hope that she would learn to go on the toilet, but now we have to change our thinking and do it as a means of catching her occasionally as we know she probably won't be able to learn it.

Then hopefully there will be exercises that can help her sphincter muscles to work properly.

She will now be monitored regularly so that if there are other problems present they will be investigated. These will be more noticeable after her 'clear out'

It's never going to be a simple answer but I do feel more positive now, and it's good to have someone on side listening to us for a change.

When It's Not All Black and White

When Lucy was finally diagnosed with Elhers Danlos Syndrome back in May this year we felt a sense of relief. Not because we knew she was disabled and her disability had a name, but we believed that now she would be treated correctly by doctors and nurses if anything went wrong again.

How foolish were we!

Elhers Danlos Syndrome is a connective tissue disorder which means things inside the body, bones and joints for example, may move out of place without the usual force required. In simple terms, someone with EDS can dislocate their ankle without having a fall or accident.

When Lucy first hurt her neck we took her to the GP in the first instance and then to the hospital. We knew someone was really wrong. However, because she'd not suffered any trauma, fallen or had an accident, they would not believe that anything serious was going on and were reluctant to even check. This was something I overheard repeatedly. So, on our third visit I may have just mentioned a fall off her scooter. It wasn't a lie, she did fall off her scooter some three weeks before and bruised her knee. As soon as I said that things changed and she was sent for a CT scan. Then they found the misplaced joints and finally began treating her instead of saying give her painkillers and she'll get better.

Unfortunately the scooter thing stuck. Even when I admitted to the consultant that I had stretched the truth and she hadn't hurt her neck falling off her scooter, he couldn't accept it. No-one dislocates their neck without a trauma, but it is possible with a condition like EDS.

This week Lucy has had a painful ankle. Now, it's really not unusual for Lucy to feel pain in her joints, it's something she's had time to get used to as she's had it all her life. However, with a little massage, some painkillers and occasionally a wheatbag the pain subsides, or at least gets better. This week her ankle has not got better and we are now on to the fourth day of pain with no improvement. This is really unusual so of course we worried.

We took her to A&E. We told them she had EDS. We told them what happened with her neck. We explained that her pain usually gets better, but this one wasn't. They told us to take her home and take painkillers. Just like they did with her neck.

It may be that this pain will go away and not be anything serious. I really really hope it does, I hate to see her suffer. She can still walk and move her foot and she has no swelling or bruising. No signs of trauma, but then she doesn't remember any trauma. We have to hope the pain will ease and things will be fine.

I don't want to take her back to A&E but if I do you can be sure I'll be telling them that she has fallen because having EDS doesn't mean anything.

A Visit with The Psychologist

Lucy was first referred to her psychologist at four years old. Two years ago she was told that there was no need for her to be seen regularly any more but she was left as a patient in case she needed further help in the future. I was grateful for this because I remember with my eldest that the most difficult years with his autism came when he hit puberty and I really needed the extra support then.

Yesterday we went back for a visit, just a check to see how she was getting on and because her GP was concerned about her sleeping patterns.

We gave her the past history of the last two years and she was shocked that she'd not been kept in the loop. I know that when Lucy was first admitted to hospital I gave the name of her psychologist as they had asked where she had her diagnosis of autism and hypermobility from. However, they had not contacted her. 

She was in a agreement with Lucy's diagnosis of Elhers Danlos Syndrome and asked if we'd been offered genetic testing. When I said no she said she'd arrange it for the rest of the family. 

I will admit that I am a little confused with genetic part of EDS. I know that there are ten different types of EDS and some are due to faulty genes, however the hypermobility type does not have a faulty gene identifier and this is the type that Lucy has. So I'm not sure that genetic testing will show up anything. There are other symptoms present in Lucy though, and it's obvious that other family members have hypermobility, so maybe with us all having some testing it will be confirmed if there is anything else going on. Or anything to look out for in the future. 

Lucy's psychologist was the person who managed to get Lucy all the help she needed in her previous school where she was doing really well. In her current school she has no help at all and I do worry about her. It's not the best school for her but she doesn't want to go anywhere else and doesn't want to be split from her siblings. I've tried all the other schools in the area and there is not one that can take all three, so a school move would mean splitting them. So I have been resigned to leaving them where they are for at least one more year, seeing as it will be Lucy's last year anyway. Now, she has been promised all the extra help she had before, externally. So the school will not have to help her, they'll just have to accommodate her helpers. This will be a lot more comforting. Hopefully this help will continue into her next school as well now. It's a huge weight off my mind. Of course I have to wait for this help to materialise but past experience has shown me that this pyschologist gets things done.