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.

Looking for Answers

Today Lucy did a poo on the toilet!
Ewww I hear you say, Too Much Information!
Well, maybe, but this is such a rare occasion that I thought maybe it was time I talked about it.
Lucy is 9 years old and incontinent with faeces as she has always been.

When she was around two and half I decided that maybe it was time to toilet train her. It didn't go well. She hated it and refused to sit on the toilet or the potty. So I left it for a while.
She started nursery at three and they wanted their children to be toilet trained. Lucy was suspended when they caught her in pull-up pants. So we tried really hard to train her, it was awful but we managed to get her to wee on the toilet. Poops were a different matter but we thought they would come later.

At six years old Lucy was being diagnosed for Autism and Hypermobility Syndrome. We talked to the psychologist about her toileting problems and she told us to go back to the beginning and try training her again. We hadn't stopped.

Over the years we'd tried.....

• potties of all different shapes and sizes, even ones that made music when you pee'd.
• wall charts with stickers,
• rewards for getting it right (She didn't get any)
• restrictions on favourite activities for not getting it right (We gave up on this because it was too cruel)
• timed regular visits 
• we read toilet training related story books
• activities during visits (books, handheld games)
• we even painted the smallest room pink and added girly pictures and curtains and a lovely Disney Princess toilet seat.

Basically, if there was trick, we tried it. 

Nothing worked.

When we spoke to her GP about it we were given meds for constipation. If she was pooing in her pants then it must be overflow from constipation. Nope, it was just poo.

Today's poo wasn't really a success, she hadn't gone for one, she'd gone for a wee and it had just come out, This has happened a few times (probably too few to mention!)

She says she can't feel anything, she has no idea that she needs to go and can't feel it coming out. The first she knows about it is once it's out. Sometimes she's quite quick to tell us and we get away with only a little in the pants if we get to the toilet quickly enough. Most the time it's a disaster. It's distressing all around. Her only saving grace is that she generally goes either morning or night so it hasn't happened at school very often. We've tried just making her sit and wait for it but without her having any idea of when it's coming we haven't had much success. She doesn't like being told to go to the toilet all the time when she doesn't feel any need to go.

So now we are waiting to see what the hospital has to say about it. Just a couple more weeks until her appointment. Will they take us seriously? Is there anything they can do? I don't know, but I really hope so because the current situation is really no fun. 

Alopecia, Telogen Effluvium.

Since Lucy had her operation last year she has had a lot of hair loss, alopecia, specifically Telogen Effluvium. This is where there is a widespread thinning of the hair all over the scalp, but not necessarily causing bald patches. I can be caused by lots of things but in Lucy's case it has probably been caused by the stress of her operation. It cannot be treated and will eventually stop.

When Lucy had the halo fitted before her operation I put all her hair up in a pony tail. This left her forehead free for the surgeon to screw in the halo at the front. The screws at the back were put through her hair. Then when she had her operation the ponytail was still there but her head was shaved at the back and on the right side. When we were finally able to release her ponytail most of her hair just fell away because it had been shaved from the root. She wasn't really left with much hair, but she still had her fringe and enough to tie up in a ponytail. With the halo on it didn't really matter.

It wasn't really until after the halo was removed that I noticed she was still losing hair. At first I just thought it was loose strands coming free from around the halo, but then I realised it was what was actually left of her hair that was falling out. Every day her clothes would be covered in hair, every morning her pillow covered in hair. I did worry if there would be anything left at all.

The shaved areas started to grow again, first the side which grew really quickly, then the back which has been slow but is growing steadily. Her original hair which wasn't shaved is still falling out, but the new hair is growing well. Maybe it will all even out in the end.

This weekend I was able to sweep all her hair into a ponytail, the freshly growing hair is finally long enough.  Her hair is not growing where she has scars but I'm hoping that eventually it will be thick enough for it to be unnoticeable.

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This photo is a weird angle but it is actually the top right hand side of her head where she had the bone graft taken, her ear is just below the bar on the right of the picture. It gives some idea of how high up she was shaved.

Getting to the Bottom of it all!

Lucy had her x-ray and as I suspected she is not suffering from constipation. So now the GP had referred her to the gastroenterology unit at the hospital to see if they can find out what is going on.
Will we find out some answers or will she be referred back to the psychologist? Only time will tell. We have been down the psychology route before though without any success.

I believe that everything is connected and that Lucy has Elhers Danlos Syndrome Hypermobility type. It's not something readily diagnosed though, particularly as this type is so similar to Hypermobility syndrome type III which Lucy already has a diagnosis for. I sometimes wonder if chasing diagnosis is always the right thing to do, particularly when there is no real cure or treatment. However, having these things stated clearly on her medical records could prove useful in the future if any further problems occur.

The main symptoms that Lucy has are:

hypermobile joints

subluxation of joints

joint pain and fatigue

easily bruising

gastro problems

keloid scars

Two of my other daughters and myself are also hypermobile and have been treated for joint pain/clicking joints. We all bruise easily too. The boys seem to have escaped.


Our next hospital appointment is on 23rd March. We are also waiting for a CT scan appointment to see how well her neck is doing. She seems fine, although she does get some pain occasionally. She has adapted so well to having limited movement, you wouldn't really notice if you didn't know. We are also still waiting for an appointment with the rhuematologist which I may have to chase up.

In other news, Lucy is now on her third week of full time school and is doing really well. She had a fall last week which was worrying, her legs where black and blue but as she stated, her neck wasn't hurt. She limped for a couple of days and now her friends seem afraid of playing with her. She fell during a playtime game of tag. It hasn't phased Lucy at all, so despite our worries I guess we can't wrap her in cotton wool. She does seem to enjoy going to school now.

Full Time School

It's Friday and Lucy has completed a week of full time school for the first time since November 2013. Actually it's probably longer because she was having regular hospital appointments, so the last time she had a full uninterrupted week of full time school was July 2013.

It hasn't been an easy week, but it could have been worse. She woke up every morning not wanting to go. We would have lots of tears and begging. It didn't help that she had developed a cold this week too. She wasn't  poorly enough to warrant a sick day but she still wasn't feeling well. It was hard but I had to be tough.

Monday wasn't too bad. She asked that Daddy would be there to take her to school as well. After her initial worries and tears she calmed down and went in bravely. She came home all smiles. We had a few more tears at bedtime but over all it wasn't a bad day.

Tuesday was not so good. There were many more tears and a complete refusal to get dressed. She went into complete meltdown and we had to give her half an hour to calm down. We don't really have half an hour to spare and we were late for school.

Wednesday we tried without Daddy. We had a meltdown as soon as she got up, mostly uncontrollable sobbing. Once she calmed down she was fine and even dressed herself and helped me make her lunch. Today we were early for school.

Thursday was the best day of the week. She was a little upset when I went to wake her but soon calmed down and we had a peaceful morning.

Friday was also going well but when I couldn't find her sister's shoes Lucy jumped on the computer while I was looking for them. I told her there was not time and we had to go to school right now and she went into meltdown resulting in us being later than we'd been all week.

Her teacher said she is doing well at school, she has had a few hiccups but nothing too bad. It's nice to see her smiling when we pick her up.

She is really enjoying her lunch. She didn't want school dinners so I am making up a lunch box for her. She chose the box herself and we made a list of the things she would like in it. We are keeping it really healthy and changing the food every day. She loves seeing what's in her lunchbox each day.

I have really missed her, I have really got used to having her at home so much. I've found this week really hard, I hate to see her upset and unable to control her emotions. I just hope that things get easier.

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.