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.

The Diagnosis

Well, almost ten years after she was born, and seven years since we first went to the hospital with her painful knees, Lucy finally has an official diagnosis. Elhers Danlos Syndrome.

It's a little ironic that it should arrive in May, EDS awareness month.

She will still be seeing the rhuematologist at the hospital and possibly have physio therapy, but she's had that before and it didn't help.

As it is Elhers Danlos Syndrome Awareness Month I will tell you a little about Lucy's condition. In fact there are seven types of EDS, Classical, Vascular, Hypermobility, Kyphoscoliotic, Tenacin-X deficient, Arthrochalasia and Dermatosparaxis.
Lucy's type is is Hypermobility.

• She has hypermobile joints
• she has suffered dislocations/subluxations
• she has reflux
• she has gastro symptoms
• she bruises easily
• she has joint pain
• she takes longer to heal

There are also implications for the future with autonomic problems such as POTS.

As always getting a diagnosis is a bitter sweet experience. It's good that you have an answer, a reason for your child's problems. It's also good that the medical professionals are recognising the problems and will do what they can to help. It's never good finding out that your child is ill, particularly with something incurable.

I also have some good news. I posted back in February about Lucy's alopecia. Well, it seems to be stopping, her hair loss is very little now and the growth is doing well. This is a photo of brand new hair grown from her being completely shaven last June.

Good and Bad News

We had Lucy's hospital appointment on Monday. She was a bit disorientated going to different part of the hospital, when we got there she assumed we'd be heading straight to neurology. We waited in Outpatients for just over an hour and if I'm honest, Lucy handled the wait better than her dad who got bit grumpy!

She was weighed and measured first and for a nine year old she's pretty big at 4ft 8" and 5 1/2 stone. (1.43m and 35kg) She's already up to my shoulder!

The Doctor was nice, he was willing to listen and I'd taken two pages of things I'd written down for him to listen to. As you may remember (if you've ever read this blog before) our reason for going was to find out possible reasons for Lucy's fecal incontinence and maybe a solution. However, Dad seemed to have  different agenda and wanted to know if our suspicions of Lucy having Elhers Danlos Syndrome were right.

For the incontinence we had no answers. The Doctor said it was very unusual unless she was suffering from constipation. However, it was possible that loose ligaments meant that she could have little control over her bowels so it could be a possible effect of EDS. He couldn't help us but hopefully a specialist in EDS could.

So basically he was agreeing that Lucy did look likely to have EDS. He took some family history and checked over her joints, and her tummy.

She is now being referred to a geneticist for a proper diagnosis, a rheumatologist to help with pain management and a physio therapist. The clinic that she has been referred back to for physio is one she has been to before and it's the one where her psychologist works, so I'm thinking of booking her in for another chat with her as she is still on the system there.

So, it's all about moving forward. We have no miracle solution to the incontinence but maybe someone further down the line will be able to help. A proper diagnosis will help Lucy in the future, especially if she gets worse or other symptoms appear.

As for the pain, well that seems to be getting worse. When we went to the hospital we decided to visit Forbidden Planet afterwards, it's about 5 minutes walk from the hospital. When we got there we found the shop had moved and had a further 5 minute walk. Lucy barely made it and was complaining all the way. This was a shop she wanted to visit so she wasn't been dragged somewhere she didn't want to go, like when we had to go food shopping the other week with her and she couldn't make it around the supermarket. She did manage 30 minutes of play in the park one sunny afternoon last week though.

Night times are the worst and she is waking up most nights again now. It's usually her knees that hurt most and I have to give her painkillers and massage them. Sometimes her neck hurts but thankfully not too often, and occasionally it's her ankles and lately she's been complaining of her wrists.

We are lucky if we get five hours a night sleep now.

Autism in the Family

I'd like to take you on a little journey back in time, twenty seven years to be precise because that's when my first born son arrived in this world. There is nothing so precious as your first born child, even if they do cry all the time and have no clue that night time is for sleeping.

 I took him into a local shop when he was around six months old and the shopkeeper started asking me lots of questions about him. It was then I realised that he was not like other babies. She actually said that six month old babies were cute and smiled a lot, that they liked to play with you and started to sleep better. Nope, not my son, he still liked to cry all day and all night, unless I was walking him around in his pram.

When he was seventeen months old his sister was born and boy was I in for a surprise. This baby slept, I didn't have to hold her all the time I could lie her down in her moses basket and leave her to gurgle. When she was full from her feed she'd drift off to sleep with no problem and not wake up for hours. Perhaps something was wrong with her?

As they grew it became obvious that they had two very different personalities. It was because one was a boy and one a girl, wasn't it? My son was so naughty, all the time, and he never listened.

We had problems at school. he would sit under the table, refuse to go back into school after break time, not listen to the teacher or parrot what she was saying, refuse to write, refuse to read, refuse to eat his lunch, refuse to use the toilet. He was a very naughty boy!

His teacher gave me the number of a child psychologist. How dare she assume something was wrong with my son just because he was naughty. I just had to try harder, make sure he was disciplined more, I know I was soft on him, but his dad was really tough.  I hated it when he played up and his dad was around.

His dad left us when he was nine. It was ok, we could manage.

The school asked me to take him to the GP as they thought he might have ADHD. Pah, they thought every kid had ADHD. My son could sit in front of his N64 for hours on end, he had perfect attention when it was needed.

I took him to the GP who asked lots of questions while my son climbed on the back of my chair like he was climbing Everest and pulled my hair like it was a rope. The GP decided that I wasn't coping very well with my husband leaving and prescribed for me anti-depressants. All the way home my son chanted "you are the crazy one, not me!"

He started secondary school, it didn't go well. His best friend no longer wanted to be his best friend and he didn't want to speak to anyone else, even the teachers. They put him in the Special Needs class which made him worse.

When he was twelve we went to see the psychologist. She asked a millions questions while my son sat eating his trainer.

He was diagnosed with Aspergers Syndrome.

Things got worse at school, not better. Inclusion was heard of then, but their ideas where ridiculous. My son was clever, but because he now had a diagnosis he was put in a class where he was learning the same stuff that six year olds would learn. He objected. I objected. I took him out of school.

He went to a school for kids that didn't fit into any other school. He was supposed to have been there for six months while they integrated him into a regular school. He was there for three and a half years. Then he went to a fantastic special collage which really didn't stretch him academically but gave him the opportunity to try so many new things like glass blowing, basket weaving, engraving and astronomy. It was somewhere for him to be while I tried to figure out what we were going to do next.

He decided himself and went and did an accountancy degree. I'm not sure that he will ever work in accountancy but at least he proved something to himself if no-one else.

And that is the story of my first born son.
I could go into more detail, but as he is an adult now I will respect his privacy. The main reason I wanted to share his story is because of where I am now with Lucy. She is about to go back to school full time. Next year she will going to secondary school. I have the difficult decision to make of what school she will go to. I know that things have probably changed since my son started secondary school fifteen years ago, but have they changed enough? It's something on my mind a lot at the moment and I'm sure I'll be writing a lot more about it while I figure it all out.

Not The Best News

Today we went to the hospital to get the results from Lucy's CT scan.
It wasn't good news. The bones have definitely slipped again, but much worse is that the bone has deteriorated quite a bit and no longer fits in with the rest of the spine so it will keep on slipping.

We have been told that Lucy will require an operation and possibly the halo will be returned.

Lucy's consultant will be discussing the CT scan with neurosurgeons at GOSH tomorrow and then will decide what the next step will be.

I don't have a picture of Lucy but I found this photo of scan which looks very similar. You can see the two bones at the top of the spine. One is square, the other is triangular. They should both be square. The one on the left of the picture has deteriorated changing the shape. This means the skull does not stay in position and tilts to the side.

photo credit: http://neuroradiologyonthenet.blogspot.co.uk/

A possible cause could be Rheumatoid Arthritis. Something I've suspected before.

I will be asking lots of questions, and pressing for our appointment with the rhuematologist.

It could be that the bone deteriorated because it was rubbing against the adjoining bones when they slipped out of place the first time. Will we ever know?

Cock Robin

We had a hospital appointment today to see how Lucy was getting on after having her halo removed.
The Doctor straight away noticed that her neck was not straight. He asked several times when the halo was removed, I'm not sure why, it was two weeks ago, it seemed like he didn't believe me. He said that she had a xray on 3rd March and her neck was straight. I said 'yes, that was two weeks ago, when she had her halo removed.'

He took off her collar and asked her to look to the left, which she did (and grimaced). The he asked her to look to the right, which she couldn't do (and grimaced even more). He asked her if she was in pain, she replied 'a little bit' She hates admitting to being in pain for some reason.

Then he said he would need to speak to her consultant, but was certain that she needed a scan. So we waited around for a while. Then he got back to us and said that they couldn't arrange a scan until tomorrow so could we come back. On the way home I had a call to say we had to come in Thursday instead.

So, still no answers. We really don't know what is going on.

I have two theories.

1. The muscles are too week to hold her head up straight and that's what is making her lean. Perhaps if they can strengthen her muscles then she will be recovered.
I worry that maybe her muscles were lax in the first time and that's why the bones subluxed. In which case there may not be a way to strengthen them. I'm not sure what the answer would be if that was the case.

2. Her joints are starting to sublux again. In which case then they will need to find another way to fix her, if that's possible. It also means the last three months of enduring the halo have all been for nothing!
It also brings up the question, why are her joints subluxing all the time?

One thing that the consultant has mentioned in the past is fusion. The joints in her neck would be screwed into place to stop them from moving.

I hope it doesn't come to that, but I do want her fixed.

Lucy's History

I'd waited an awful long time for my little girl, it felt like a miracle when I finally fell pregnant and stayed pregnant. She then came early, but only a couple of weeks so was classed as full term. I had her at 8pm but wasn't taken to the ward until around midnight. I didn't sleep that night, I just kept looking at my little girl, not quite believing she was here.

She cried a lot as a baby. We believed she had colic, each evening she would scream relentlessly for at least two hours solid. Then at three months old she calmed down. She didn't sleep through the night though. She still doesn't at eight years old.

We had trouble toilet training her. She just didn't get it, despite all our efforts, and we tried everything. She would simply scream the second we put her on the potty or the toilet. She started nursery at 3 years and 3 weeks old and I thought I could get away with putting her in pull-ups, but they said no. We had to keep her home until she was trained. Eventually, we managed to get her to sit on the toilet. She screamed, but then she pee'd, and that was it. After the first 'hit' she wanted to do it again and again. The number two's were a different story though. At eight years old she still doesn't go on the toilet. I've mentioned it to several doctors but they have not believed it to be a medical problem. I've tried everything, believe me, I could write a book on all the methods we've tried, but I am more and more sure that she's just not feeling it. She does not feel the need to go, and does not feel it come out, I'm sure of it. She gets so upset when she's messed herself. We've stopped being angry, but we'll never be resigned. We will keep on going, and I will keep on asking doctors. Maybe one day she will feel it differently, or maybe the right doctor will tell us why.

For as long as I can remember, and as long as Lucy has been able to tell me, she has been getting pain in her knees. Mostly at night, but sometimes during the day too. The pain is bad and requires me to massage her knees as well as a dose of pain relief. We also use wheat bags warmed up on her knees, but these are not always practical as they fall off while she's asleep. I've told the doctors and she did have x-rays. They found nothing but did point out that her joints were hypermobile and this could be a cause of the pain. She sometimes has trouble walkings, even the walk to school is too much for her some days and we either have to walk very slow, or she has to stop and rest. Some days she is fine and can walk and run just like any other child.

Lucy has also suffered from really bad headaches, at one time they were getting quite regular so the GP gave us beta blockers to take on a daily basis for a few months to break the cycle. They did seem to work for a while, but she still gets headaches.

When she was at nursery her teacher said she had problems playing and working with the other children. She thought that maybe she showed signs of autism. At three years old I thought that maybe she was just immature but I'd been here before with her older brother. I'd buried my head in the sand and convinced that he would grow out of it. He never did, and I knew Lucy wouldn't either. I did leave it for a couple of years though. I wanted to be sure that there was something wrong before I sought a diagnosis.

At six years old Lucy was diagnosed with high functioning autism. Her teacher at the time was brilliant, she researched everything she could to make Lucy's life easier at school. Lucy had extra help at school from the autism team. She had occupational therapy, speech therapy and physio therapy. She was coming along brilliantly.

Then this summer things went pear shaped. She hurt her neck, we moved house and school and now all the help she was getting has to be set up all over again. Of course with her neck it means she has lost a lot of time at school. I hope that this year we can remedy that and get her back on track. We only have a couple a years before she has to start secondary school and the real trouble begins. I can't afford to let her slip now.

My plans for this year are:

• get her a proper diagnosis for her condition so that if anything like this happens again the doctors will know what they are dealing with.
• liaise with her new school so she can have her support system in place again.
• work with her to catch up with the other children on her actual school work