It's Been a Long Time!

 So, I've not written here in ages. I guess I wanted to keep L's life a little more private as she got older. But we are still on a long journey with her health and I think it needs a place to be recorded. 

I have also decided that this would be a good place to write about my own chronic illness. It's a difficult time right now and people are always looking for connections and help.

I don't know if I can help anyone, but I do want to share my story and if you can relate to any part then please feel free to get in touch to talk about it. 

As I've not written here in a long time I will start with a recap. I'll try and keep it brief, but it's not a short story.

First up, L's Story

From the very beginning I knew something wasn't right with my girl. She seemed to be in pain all the time. Of course, Drs said it was colic and such like, and nothing to worry about.

She developed normally, apart from her toilet problems. We tried everything, even to the point of painting the bathroom girly pink and buying a Princess toilet seat. But she just couldn't 'go'

She started nursery at 3 and was 'suspended' until we could toilet train her, when her teacher noticed I'd sent her to school in a 'pull-up' nappy rather than pants. Roll on 12 years later and she still wears pads and incontinence pads. 

I asked for help from an early age and to be fair we have seen a paediatric gastric doctor who first told us she had problems, then back tracked by saying he'd found nothing. We confronted him but he denied ever saying anything and refused to do the tests again. This is not uncommon. It's happened to me too. 

We did get a referral to a continence nurse who was really helpful. She explained how everything worked. shared videos that were child friendly so L could understand. Then told us it was constipation and that L needed a dis-impaction.

Dis-Impaction

This needs a paragraph to itself. To dis-impact a bowel you have to empty it of everything. That means taking a solution (Movicol) that pushes everything out. Laxitives can be used if it takes too long, but it generally takes about 4 days. With L, it took 9 days. I want to tell you about the mess, but I'll leave it to your imagination. That's when the 'poo bucket' was introduced in our home. It's a nappy bucket that gets filled with soiled clothes so I can wash them seperately. I have to wash them by hand at first, generally down the toilet, then in the bathroom sink. Then a double wash in the machine. Then the washing machine gets a drum wash. This is a weekly, or bi-weekly task and it's the bane of my life. 

So, we dis-impacted. To the point of water like poo and no lumps. Then L became constipated again less than a week later. The nurse said this was common and we had to dis-impact again. We went around this cycle for FOUR YEARS! No further help was ever offered so we stopped going to see the nurse. 

We still dis-impact occasionally. She gets constipated again straight away. 

But L is More than Poo!

L's pooing problem is now being taken seriously by the Drs but I think I need to follow that story seperately. Let me just say for now, that things got really, really bad this year. 

L was in pain as a baby, I wasn't imagining it. We have a diagnosis, but it's being questioned as her genetic dr seems to disagree. She has Elher's Danlos Syndrome. A connective tissue disorder which means her joints can pop out of place easily. She's seen a rheumatologist who gave this diagnosis. She has also had physio therapy  (which made her worse) and then she was referred to a geneticist. She believes that L has Marfan Syndrome, but she's currently carrying out more investigations. Next month L's siblings are going for blood tests to see if the genes are in the family. (sadly, the signs are there but the other two have not suffered so much.)

When L was seven years old her neck became stuck in an awkward and painful position. I have the full story recorded here on the blog, but it resulted in 18 months of treatment including five trips to the operating theatre and two sessions of halo vest wearing. 

When L was six years old she was diagnosed with high functioning autism. She has managed to go through mainstream school and is currently working on her GCSEs. She gets a lot of help at school which I am truly grateful for. 

I will tell you how L gets on from now on. Especially as some of her current testing came up with some issues which involve further hospital intervention.

My Story

I too am a zebra, but it happened suddenly for me. I fell ill on 1st January 2016 and ended up in hospital for two weeks. I was diagnosed with Transverse myelitis as I had lesions (Swellings) on my spine at C4 and T10. The Doctor in the hospital told me this after my MRI. My notes do not say this. The Dr I see now has no record of this ever being said. I'd think I was going crazy but I was not alone when the original Doctor told me this, I have a witness. (I've never had another full body MRI) Only brain ones.

A year later they found some rogue anti-bodies in my blood and I was diagnosed with Stiff Person Syndrome with PERM. It's a rare condition affecting less than 1 in a million world wide. Most doctors have never heard of it. 

This is getting long so I'll fill you in as briefly as I can. Stiff Person Syndrome does was it says, it makes me stiff, I can't bend or stretch without pain. I have a spastic gait which stops me from being able to walk normally, so I use a wheelchair. I have spasms where my body goes suddenly stiff and immobile. or just immobile and I can't control it. 

The PERM is Progressive Encephalomyelitis with Rigidity and myoclonus - Progressive - it will get worse, encephalomyelitis - a demyelinating of the spinal cord (damage to the coating), rigidity - stiffness and myoclonus - uncontrollable jerking. (sounds fun doesn't it!)

I have also recently had a scare when my brain started bleeding for no reason and caused a lump to appear. Thankfully, this has now been re-absorbed, but there is no guarantee that it won't happen again. 

Mum and Daughter

So, to conclude. I am a disabled Mum looking after a disabled daughter. My youngest son is also on the autistic spectrum and has health issues, but we don't have any serious worries about him. 

We have a lot to face and although I stopped writing about L a couple of years ago, I do think her story needs to be continued. This will also give me the opportunity to connect with other chronic illness sufferers. 

Please feel free to browse L's story so far. Particularly if you are interested in halo wearing. It's quite an experience and not one you want to face alone. 

A Catch Up

Sorry I've not updated for so long. I really must keep up with this as it has been a great help in the past for me to have every logged in one place that can easily be found.

I have a shoebox full of letter, hospital appointments, assessments, diagnosis' everything in one place. But sorting through it can be a pain, and it's not a very detailed review of everything.

There is so much that has happened since last summer when I made my last post.

I've recorded some things on my main blog www.raisiebay.com  so I can point to some posts I've made there.

Lucy is getting on well at school but the only thing holding her back is her attendance. It's not awful, but it's not good either. It can't be helped, she has a lot of health issues. Here is a post I wrote about her being in Mainstream School.

Here is a post about her Elhers Danlos Syndrome for Rare diseases Day. She had genetic testing done last year which showed that she didn't have any genetic disease that would affect her heart. We have yet to speak to anyone about the results but it does seem to rule out Loey Dietz Syndrome but she could still have Marfan Sydrome.

She had a visit to her neuro consultant about her neck and without even examining her he said she looked fine and would see her next year. I guess he's only there in case something does go wrong, and everything does seem to be going well.

She has developed a clicky jaw though, sometimes it locks in place. The Dr said he could feel some inflammation in the joint and she has been referred to a maxillo facial consultant as she may have Temporo mandibular joint issues. My eldest daughter had the same at the same age, isn't that weird? My eldest went to the hospital every month for a year but they never really did anything that helped her and she still has issues now!

We are still having bowel issues, I don't want to go into too much detail but at least we have a better understanding of what is going on, and there is help available, it's just taking a very long time to get it sorted.

This week she had a treat at school for best behaviour and won an afternoon of Harry Potter film and pizza, how lovely is that!

I'll be writing more frequently from now on, not only do I wish to record Lucy's progress with her TMJ, but The Little Man is now having issues and I'd like to record what is happening to see if we can get him some help. More about that later.

Thanks for reading x

It's been a S**T Summer!

Sorry for the lack of post on this blog. As Lucy gets older I find it difficult to share so much about her. I do worry about who might see it, especially now that she's in Secondary School.
However, I started this blog to record her journey and I've deliberately left out any recent photos so I do want to continue writing here.

My reason for the title? We are currently on round 4 of dis-impaction. It's becoming second nature to us now. We are experts in poo! After each round Lucy is okay for a while and then she becomes constipated again, despite constantly having the Movecol. The incontinence nurse reckons it's because we still haven't cleared all the blockage yet, and seeing as she's been constipated for years it's bound to have built up. So, our only option is to keep doing the dis-impaction until the constipation is cleared.

At her last appointment we watched a video which explains things clearly.




We are determined to get this problem solved. I don't want her to continue into her teens with it anyway.

In other news, we are still waiting for the genetic testing results which were taken in May. They said it could take up to four months...well it's September now. I did get myself into a tiz worrying about them. It was written in her notes that the Dr was looking for certain genes which would give her a diagnosis of a rare condition. I read up about it and scared myself witless. Then I stopped looking it up and was determined to wait for the results. It was always at the back of my mind so I eventually looked it up again. I found that there is only one person with this condition in the UK, phew. Sad for that little boy but it means it's very very unlikely that Lucy has it. In fact I don't even know why the Dr would be testing for it. Yes, she has a couple of the signs, but not the majorly obvious ones.

It is possible that she has Marfan Syndrome though. Her arms are longer than her torso and she has long fingers and toes (so have I.) If it's not Marfan then it could be what she is already diagnosed with, Elher's Danlos Syndrome. However, her Dr has already ruled out the Hypermobility type because she doesn't tick enough boxes. A lot of the other types of EDS have symptoms that do not present themselves until later in life, usually teenage years. It is a difficult process getting an accurate diagnosis. So many of the conditions she could have come with heart problems. We were told last year that Lucy would be checked regularly for heart problems. She had all the testing last year, but nothing this year. I'm not sure how often she should be tested or if they are waiting for the genetics results.

We go to see Lucy's neurology consultant about her neck in October. She seems to be doing okay although she has had some pain at times. I do wonder if her 'repair job' will last a lifetime, or if it will need re-doing at some point. The good news is that she is having regular check ups.

Lucy's Autism is becoming more noticeable as she gets older. Some things are getting worse and some things better. Her communication skills are not too bad, it was around her age that her brother began having problems with communication, or maybe it was just the fact that it was becoming more noticeable. With high functioning autism it is hard to distinguish some of a child's autistic features until they become an age where their behaviour is different to their peers. Lucy's autism was diagnosed much earlier than her brothers (she was 6, he was 12) but then we have more experience of Autism and noticed the signs earlier. Also, with her brother, he may have been diagnosed sooner if I'd listened to the school and refused to accept that my first born had something wrong with him. (The school wanted me to refer him to a psychologist at 6yrs.)


Apart from the poo issues, it hasn't been a bad summer. We've had some good days out as well as a small holiday. Lucy is a pain when it comes to going out, she'll get really anxious and may run off and shut herself in her room crying because she doesn't want to go. But by staying calm and using plenty of re-assurance, we have managed to get her out and she's always had fun.

It's all a load of Poo!

We visited Lucy's psychologist for a check up and found out that she's leaving. Lucy has been seeing her for 6 years now so it's sad to see her go. She did ask for Lucy to see the Incontinence nurse before she left and we had an appointment just before Easter.

I wasn't sure what to expect. The gastroenterology doctor hasn't helped much in the three years we've been going. I wasn't surprised that the first thing the nurse told she had fecal impaction (constipation.)
So our first job was to get rid of the impaction. We have tried this before many times and it's horribe, it really is.

So, we started with the Movical which is a powder that you dissolve in water and drink. It expands in the colon and pushes everything out. We worked our way up to 10 sachets of Movicol a day as we were instructed. We had to wait until the result was just water like.

Lucy is incontinent, she doesn't feel the need to go to the toilet. The nurse explained that this can , happen because of constant constipation. The bowels can become expanded and the feeling of needing to go can't happen.

So, just for one moment, no longer, imagine an incontinent 11 year old with not feeling of needing to go but taking enough laxative to get a horse 'moving.' I won't go into too much detail but it involved lots of washing, smell and tears.

Lucy was very sore and in pain with tummy contractions by the time we reached dis-impaction. Then I started lowering the dose and now she's on three Movicol a day. It's still pretty bad. I'm still wishing I had a sluice room in my home. But, the soreness has cleared up a little and the tummy pains eased off.

Today we go back to see the nurse to see what the next steps are.

Backtracking!

In my last post I talked about Lucy going on a residential trip with the school and how I'd given a lot of thought and consideration in saying no to her going.

Well, things didn't quite turn out that way.

The week of the trip we were told that she could go in the daytime only and come back each day at the end of school. Of course Lucy really wanted to go even though it still meant she couldn't do most of the activities on offer. We decided to give it a go.

She wasn't alone, the school mini bus took 7 children on the first morning and back again. Lucy loved it, she had a really great day. When I asked her what she'd been up to it was mostly watching the other kids climbing and on the zip wall. She'd also felt a bit sad at coming home which was a big surprise. 

She went again the next day and managed to join in with a go kart race so she was really excited.

The next day she had been told she could stay over for the last night and party and so wanted to. How could I not let her. I was still worried how she would cope but I let her stay and packed her an overnight bag. 

She came back the next day tired, miserable and in pain. It had all been a bit too much for her. They'd gone for  a long walk and her knees had been hurting all night. She had not enjoyed the party at all, it was too loud and everyone was too mad. And she'd not got much sleep because the boys had been too noisy and everyone had stayed up way too late. She was not a happy bunny at all. I just hope it hasn't put her off going away again if the opportunity arrives.

The good news is that she did it! and for that I'm really proud of her.

Today is the first Day of Autism Awareness Month so I will hopefully posting a little more this month.

Elhers Danlos Syndrome and DIY SOS Big Build

Last night I watched DIY SOS the Big Build and they were rebuilding a house for a young girl with Elhers Danlos Syndrome. What they didn't say was what type of Elhers Danlos Syndrome she had. There are at least seven types of EDS which you can see here.

I'm no expert but I'd hazard a guess that because she was so poorly she would have Vascular EDS. This affects the heart and organs and can be serious.

My daughter also has EDS but we haven't been given an accurate diagnosis yet, we are still under the geneticist to find out exactly what is going on. We don't know what the future may hold for her.

When she was just three years old she had a lot of problems with pain in her knees, she would keep us awake most of the night complaining. The hospital diagnosed Hypermobility Syndrome.

Then she had the subluxation in her neck which should have been easy to fix but her consultant noted that her ligaments were very lax. I looked up what this could mean and that's when I first heard of Elhers Danlos Syndrome. Her consultant referred her to rheumatologist who agreed that she had EDS and then referred her to the geneticist to explore more. The geneticist reported that she may have Marfan Syndrome and ordered tests on her heart and eyes. They came back ok, she doesn't have problems. However, there is no way of knowing if problems may occur in the future.

My little girls is currently doing quite well. She does get sick a lot, I mean a lot more than her siblings, but she hasn't had any subluxations for a while which is good.

It's hard not knowing the future, but we can only live in the day. It's hard looking back at the things she has been through in the past but we got through it and she's still with us.

I just wanted to say, yes, my daughter has EDS but she's not as sick as that poor girl, Antonia, in the tv program last night. Awareness of rare conditions is always good, but I wished they had been more specific.

The School Residential Trip

Last year we had a letter from the school about a residential trip  that is taking place in February. I threw the letter away, my first instincts were that this was not going to work for Lucy.

Then last week we had a call from the school and he spent over half hour talking about the trip and what it would involve, how it would benefit Lucy and that she had said at school that she wanted to go. I said we would think about it.

First I spoke to Lucy. I asked her if she wanted to go and she told me excitedly that there was going to be a disco on the last night. I asked her again, 'do you want to go then?' She said 'can I go to the party but not stay overnight?' I told her no, that's not possible. She cried. 'I don't want to go, I don't want to stay away from home.'

She has stayed away from home before, a few times actually. But she really doesn't want to stay away with the school.

I decided to take a close look at the place where they are going. I was told in the phone call about all the fantastic activities available. It sounds wonderful, but Lucy has a joint problem which means she is prone to dislocations. We have a medical letter outlining the types of activities she is able to do. Abseiling is out, so is the zipwire, she can't do the ropes and caving could be a problem as she may slip. She wouldn't be able to do orienteering as walking too far causes pain in her knees and ankles. We let her go on day trips which involve walking but at night we have to spend time massages her, medicating her and using wheat bags to help relieve her pain. I'd hate to think she was hurting like that and not having our treatment, and I know she wouldn't accept it off anyone else. Her stress would be unimaginable.

There are some activities she'd be able to do, archery, problem solving, the buggies and of course the last night disco. She probably would join in if the others were doing it. I'm sure she'd get something out of it.

We have been offered the chance to discuss exactly what she could do and what she couldn't. We have been told that she would have all the help she required and she wouldn't be forced to do anything she didn't really want to do or felt uncomfortable about.

We have been told that a lot of the children have trouble sleeping and that there will be staff available throughout the night for anyone who needs them.

We have been told that we could pick her up at any time if it wasn't working out, and that the place they are going is only an hour away on the motorway.

It's been a difficult decision to make and we have all been going around in circles.

If she went it would be an amazing opportunity for her, she would experience being away from home and not with any relative, she would hopefully forge new and closer friendships with her peers.

If she went she would experience a lot of anxiety, not be able to sleep, possible suffer from pain, and is at risk of getting seriously hurt. (she once dislocated her ankle and we have no idea how, and of course she dislocated her cervical spine which needed lots of major surgery to put right.)

We know we wrap her in cotton wool but it's still really raw for us the things she has been through and we know it could happen again, so yes, we are ultra careful with her.

Even if the school were really good and did exactly as they promised we are not sure that her anxiety would not spoil the experience anyway.

But, and there is one big but. What about her incontinence? She has always been fecal incontinent. We are still under the hospital, investigating possible reasons for this. (her next appointment is the day they go away on the school residential trip.) When she has an 'accident' she gets upset, angry, distressed and refuses help in getting cleaned up. She is also refusing to clean herself so we have to force her to come and get cleaned up. The whole situation is really awful and we have to deal with it on a daily basis. It's getting worse as she gets older, when she was younger she was ok with us cleaning her up. She is embarrassed about the whole thing and that's what causes her refusal for help.

She has had 'accidents' at school and they have called us to pick her up and we have taken her home and cleaned her. She has managed to seek help before the other kids have found out what has happened (apart from one time in her last school.) She gets help because she knows that we will pick her up and help her. If she is away with the school she will not seek help because she knows we won't be able to do it. She will not clean herself, she will not let anyone else clean her, the other kids will find out what has happened.

I suppose we could let her go and if she does soil herself go and collect her. But, this is generally a  daily occurrence and the trip is for 3 days.

So, our conclusion is to not allow her to go, it feels like the best option at this point.

She is only 11 so she will have many more opportunities like this I'm sure. We are trying so hard to get the incontinence under control and I have every hope that we will get there in the end. We can work on her anxiety too and hopefully an experience like a residential trip would be more workable.

As for her joint condition, maybe if she doesn't have any more serious problems for a while we will become more confident and allow her to do more stuff. We can't keep her wrapped in cotton wool forever.

So now I feel like a bad mum, I feel like I'm letting my daughter miss out.
Lucy, however, is happier knowing that she doesn't have to go, she is just anxious about what will happen to her while the other kids are away.

It's been a tough decision.