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. 

A Day Out with a Zebra

Last week we were invited out to test some bouncy castles and afterwards spend the day at Hatton Adventure World.

To most people we were just a regular family enjoying a day out, which is I guess, how most zebra families are viewed. I wanted to write something to show just what that day really was like for us.

We started out almost on time which is good because it meant we had no 'accidents' or 'incidents' to delay our morning. By this I mean that Lucy did not soil herself or have a meltdown, sometimes we experience at least one of these in the morning.

I have to consider what may happen during the day out, so much like preparing for a baby, I prepare a bag for Lucy. I have spare clothes in case of accidents, baby wipes, extra drinks and painkillers. 

When we arrived Lucy was a little fatigued from the journey but she soon perked up and was rushing along with the other children across the field to the bouncy castles. She was playing and having fun straight away, being the eldest she had no inhibitions and no shyness. At one point she was asked to help a younger child climb up the bouncy castle to the slide. She didn't register this question. I asked her sister to help instead. This is her autism kicking in. It's not that she doesn't understand, it's just that she was playing and not registering that her help was needed. To get her to help I would have had to remove her from play, make sure I had her attention and then explained what help was needed. This is time consuming, it may frustrate her being stopped from playing and as she is not that physically fit helping another child might not work anyway. It was just easier to ask her sister.

At first Lucy was able to climb up to the slide herself, most of the other children where managing fine and it wasn't that high. As she became tired her body no longer had the strength to get her up and she began struggling. Then she became frustrated with herself. I had to take her off the bouncy castle to rest and recuperate. We did this by sitting on some chairs that had been provided. She leant against me and at one point was laying on my lap. She felt quite calm which was good because I knew she was trying to curb her anger and frustration at not being like the other children. She tried again but as it was hot she didn't really get enough energy back. Her frustration increased and she nearly went into meltdown but a cuddle from me managed to calm her and again I had to remove her from the bouncy castle. I'm glad she didn't go into full meltdown. She was the eldest and biggest child there and it may have been a little scary for the other children to see her like that. Luckily we were in a place where I (or her Dad) were able to take her off, away from everyone else. That's something we have to think about and why we tend to avoid enclosed places like soft play areas.

When the bouncy castle play was over, which came at just the right time for Lucy but the other children probably would have played for longer, we went for some food. Lucy perked up again and was able to walk over to the marquee where the buffet was laid out. She complained that she was hot and thirsty but the thought of sustenance kept her going.

Once in the marquee she was happily tucking into the food, thankfully there was plenty of things that she liked. She is quite a fussy eater but is quite happy with buffet type food and finger foods. After re-fuelling she joined the other children in colouring in activities.

Then we went to enjoy the rest of Hatton. We started with the animals, Lucy loves animals so she's always happy here. Then we took them to play on the mini tractors. She is a little big for this type of play but she is also a little immature so she really wanted to join in. Luckily, some of the tractors where quite big and she managed to find one that she actually could fit on.  The three of them played together for a while while Dad and I took a rest on a bench. We then went to play in the sand with the diggers. They all loved this so much and could have stayed here all day.

We went panning for gold and played in the park, taking plenty of rests in between activities. I was surprised at Lucy's stamina, she must have been enjoying herself to have lasted this long. She was showing signs of waning though even though the other two were still going strong. They wanted to go and play on the fairground. I had two reservations about this, one was that I thought Lucy had had enough for one day and two, fairground rides can be a strain on her neck. There are only a few rides at Hatton and they are aimed at younger children, but they are still bumpy and the tea cups spin around. I know I can't wrap Lucy in cotton wool, but I do try to limit her activity for her own safety. She was too tired to go to the rides anyway, she didn't want to. So I took the other two while Lucy had a stroll around the bird cages with her Dad. Everyone was happy.

It was late afternoon now and we were all feeling tired so we decided to make our way home. First we had to make our way through the lovely shopping area. Usually we would take the time to browse but we decided on a quick pop into just a couple of the shops.

There was some grumbling on the way home and we had to stop for cold drinks but overall I believe we had a successful day out.

Painkillers were administered at bedtime and it didn't take long for her to fall asleep. Some nights it can take up to two hours, so she must have been worn out. I had to go in and massage her knees around midnight but other than that it was a peaceful night and she didn't wake until just after 7am.

Rheumatologist and Physio Therapist

We were referred to several departments after Lucy's diagnosis of Elhers Danlos Syndrome to see what she needs and what help she can be given.

The first appointment through was for the physio therapist which was for  Friday. Then on Tuesday we received a phone call asking us if we could make an appointment with the rheumatologist on Thursday.

I'm glad the appointments worked out the way they did because visiting the rheumatologist first was a the best step.

The Doctor we saw was really nice. She spent about 15 minutes talking through Lucy's history asking me lots of questions. I'd written everything down but I didn't need to consult my paper because it's all etched in my memory. There is always a chance of the brain fog descending though, so best to have some guidelines. Then she asked if I had questions and mostly I just wanted to know if she agreed with the paediatricians diagnosis and if there was anything that could be done for Lucy.

She completed a  thorough examination of Lucy before answering my questions. Lucy scores 6/9 on the beighton scale for hypermobility. However, she does have other joints that are really hypermobile that the scale doesn't take into consideration. (As a point of interest, I score 7/9) We both score two major on the brighton criteria.

She pointed out that Lucy had a mis-aligned ankle on her left side and asked me if she'd had an accident. We are not aware of her hurting her ankle. She thinks it can be corrected with shoe inserts and has recommended that Lucy sees a podiatrist.

At the end of the diagnosis she went through her findings with the information given by the Elhers Danlos Syndrome Organisation and agreed that Lucy does have EDS hypermobility type.

She recommended Lucy seeing a physio therapist but I told her that Lucy already had an appointment for the next day. She is also referring Lucy to a gastro specialist for her bowel problems.

Overall the visit felt positive. It felt like a step in the right direction and that Lucy was going to receive some help.

The next day we saw the physio therapist and the experience was a little different.

Lucy was not feeling her best and complained every time she was touched. Maybe all the stretching and poking the day before had left her feeling sore? The physio was doing practically the same things but I have never heard Lucy say ouch so often. She never normally complains, even when she was at her worst with her neck she would only admit to pain if we asked her.

I had told the physio that Lucy had been given a diagnosis of EDS but she didn't seem impressed. She said a lot of Lucy's pain could be put down to growing pains and had she grown much in the last few months....she's 9 years old, she's always growing! She's been growing since she was a baby so I guess all the pain she has had over the past 9 years are growing pains then?

She saw that I wasn't very happy with her comment, event though I didn't say anything, so she tried to make it sound as though she was only blaming some of the pain on growing..the pain in her ankles and knees. The rest was EDS, if that's what she had been diagnosed with. I had the feeling she did not believe that EDS existed.

She then went on to say that Lucy would need help to recover from her ankle injury...I hadn't said anything about her ankle...there has been no injury, surely I would know? I didn't argue with her, if Lucy needs help for her ankle she can have it. It's just a mystery as to why she has a bad ankle.

Finally she said that Lucy would be referred to a rheumatology physio therapist. Then she left the room to fetch some exercises for Lucy. When she came back she said she'd made the referral to a community physio therapist who would come to see Lucy at home.

I must say I found the whole experience with the physio therapist like a step backwards. I'm so glad we didn't see her first I think I may have been more upset.

In the meantime we are taking one day at a time.

School and Hospital

A few weeks ago I went into the school to speak to the Special Needs Teacher about Lucy. I told her all about her condition, what it was and what it meant for Lucy. The teacher had not heard of Elhers Danlos Syndrome so she was happy that I took a long a print out about the condition.
I gave her a list of what I wanted for Lucy in school which wasn't too difficult. The main thing being I've stopped her from doing p.e. It's not that she's not capable of physical activity, it's just that I don't trust the school to make sure she's not doing something that may harm her. Also, the other kids in the school are pretty rowdy and I don't want her getting hurt by them.

I also told the teacher that she may get tired easily and finds it difficult to walk long distances. Also, that she may find sitting on the floor for long periods painful.

I'm allowing her to go outside at playtime so long as she's taken seriously if she gets hurt or falls. What is a simple bump to an ordinary child might be quite serious for her.

We will see how it all goes.

This week we have two hospital appointments. Finally we have an appointment with the rheumatologist so I'm busy writing down all the information that he will need and the questions I want to ask. You need to be prepared.

The second appointment is with the physio therapy department who will assess whether Lucy needs any physio and if it will be beneficial for her.

I'll let you know how we get on.

I've also asked for her to be referred back to the psychologist about her sleep issues as she is taking longer and longer to fall asleep at night. She's always woken a  lot during the night, but generally she's fallen asleep quite quickly which balances it out a little. Now, she's really not getting enough sleep at all.

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.