Sorry For Not Updating Sooner but it's been a bit Poo!

 Last week we finally got to see a consultant at the adult hospital to proceed with her treatment. Last year she was told she'd be referred but we didn't hear anything. So I requested her notes from the hospital and they also sent me a disc of her scan results. 

It was all very interesting, but there were two things that spiked my interest. Both were on a letter from the consultant that we had been told Lucy was being referred to. The first was that she wasn't taking any new patients and she didn't think Lucy required her help. The other was a question to the referring consultant asking if Lucy had been tested for slow transit constipation. 

I was on it straight away. First I wrote to the referring consultant and asked if he was thinking of testing Lucy for slow transit constipation. Secondly, I wrote to the other consultant and asked if she'd actually looked at Lucy's notes and could see how obvious it was that her help was needed. 

Then two things happened. Lucy was tested for slow transit constipation, which indeed she does have. And she was seen by the new consultant's team and her treatment is finally going ahead. 

Sometimes you have to shout to be heard. I'm not very good at advocating for myself but I'd do anything for my kids. 

So what is slow transit constipation? Well, it's the slow movement of the poo through the large intestine. Most bowel diseases occur in the small intestine, that's why Lucy does not have IBD. She does have problems though, and it gets a little more complicated when it comes to the large bowel. 

Because Lucy has had these problems a long time it's hard to see what is causing it so the first line of treatment is to empty the bowel and concentration on medication to keep it empty, or moving. Lucy has had medication before but it's never really helped much, so now she's an adult they are stepping it up and we have two months worth of suppositories and enemas as well as pills to take. Once she is emptied then she will be monitored with the medication only. If that doesn't work, then there is a stronger medication. If that fails then she will undergo more investigation and could end up with an operation. But that's a long way off and I'm hoping the medication will work. 

The big worry is the syringomyelia which could be the cause, but it could still be controlled with the right medication. 

Fingers tightly crossed for my not so little, little girl.

Too Much and not Enough

 As you may recall I told you that Lucy has a syringomyelia and I've been getting advice from a neurologist who is not Lucy's doctor. She thinks it would be better to ask for Lucy to be referred back to the Children's hospital as the waiting list is a lot shorter, so I'm going to contact them and see if this is possible. 

Then I get more information on syringomyelia. It's a neurological order where CSF (cerebrospinal fluid) causing a fluid filled cyst on the spinal cord, a syrinx. Apparently Lucy has two and they were picked up on her MRI. They can be harmless and never detected, but if they cause problems then they need to be treated. 

Lucy has problems as we know. Things that can be cause by syringomyelia which Lucy currently suffers from are:

• pain
• pins and needles
• bladder problems
• bowel problems
• weakness in limbs
• stiffness in limbs and neck
• loss of balance
• headaches

The most common cause of syringomyelia is chairi malformation. But it can also be caused by spinal cord injury.

Lucy has had surgery on her cervical spine, in her notes it says from injury but I know that she wasn't injured it was idiopathic but the doctors wouldn't believe me, so I said she fell off her scooter (when she hadn't but at least it got her a scan and treatment) 

It was most likely caused by her EDS (Elhers Danlos Syndrome.) 

At the time of her treatment for her cervical spine I was told quite categorically that it was NOT chairi malformation but intercranial instability. I've been looking up the surgical procedure for Chairi malformation and it's exactly what she had, decompression surgery. She also had a spinal fixation which is a procedure for Chairi malformation for children with type 1 Chairi and EDS. I was also told that there was NO leakage of CSF but now, some 9 year later we find out that there was, otherwise she would not have syringomyelia. 

I really don't know what to think. If I send her back to the Children's hospital it means that they will be more understanding about me staying with her. But it also means she'll be under many of the same doctors who now appeared to have got things really wrong. 

Treatment, if she ever gets around to it, will possibly be a draining of the syrinx using a shunt. This is the minor of the operations available and hopefully she won't have to go through another decompression surgery. 

If she doesn't get treated it could get very much worse for her. People with this condition can have no symptoms and live normal lives, but Lucy already has symptoms and they could get very much worse. 

More Catheter problems and a Good Doctor

 Yesterday it was Lucy's scheduled catheter change. She wasn't too happy but she knew it had to be done. She stayed in bed until the District Nurse arrived at 11am. 

It didn't go well. The nurse got the catheter in and Lucy said it didn't feel right. The nurse insisted it was right but when she inflated the balloon to keep it in place it fell out! She tried again and said that she'd call back in 1 hour to see if it was working. 

Lucy knew straight away that it wasn't working and in 1/2 hour she was in so much pain I was on my mobile to call the nurse back. While I was waiting to get through, the house phone rang and it was her regular nurse. Lucy is supposed to have the same nurse every time because of her autism causing anxiety. We were so relieved and the nurse came straight away. She tried 3 times to put a new catheter in but it just wouldn't work. Lucy was getting more and more distressed. The Nurse said that she needed to go to A&E as by this time she was retaining quite a lot. (i.e. she couldn't wee so her bladder was expanding.) 

Lucy was really distressed and terrified that they would keep her in hospital again. 

We got to A&E and the place was the busiest I have ever seen it, and we've been there A LOT. My heart sank and Lucy was even more distressed. BUT, a nurse came straight away, took one look at her and put her in a cubicle. If the bladder gets too full then there is the prospect of damage to the kidneys. Lucy had kidney issues before which is why she was admitted to hospital. 

Lucy was looking about six months pregnant by now because of how full her bladder was and she was in a lot of pain.

A doctor came to see us and said because Lucy was just 17 yrs old and had be catheterised for so long he wanted to know why before he put another catheter in. He came back an gave me so much information my head was whirling. Before I get to that I'll let you know how Lucy got on.

It took another three attempts and two different nurses before the catheter was in and working, and it filled the bag straight away. It was terribly painful for Lucy but she was brave and so relieved afterwards. Then we were allowed to go home. We were there less than 4 hours! We've waited that long to be seen before. 

Now, for the information overload. 

Lucy had an MRI back in October last year. They found two syrinx.

A syrinx is a rare, fluid-filled neuroglial cavity within the spinal cord (syringomyelia), in the brain stem (syringobulbia)

We were told she has one on her spine and her brain. These probably come from when Lucy had Cranial Instability when she was 7 years old. It was corrected by surgery but she's never had a single scan or xray apart from the one immediately after the hospital. 

A couple of years ago she was taken to A&E when her neck was hurting and we were told she had a cyst but it would go away. They did not check to see if it was a syrinx. I'm not still not sure if I have a cause for complaint. 

The doctor told me that Lucy had already been referred to two of the best consultants in the hospital but the waiting lists were up to a year long.

The only other information he could give me was that the consultants would decide what they can do about the syrinx but in the meantime it was preventing messages from the brain that make the bladder and bowels work. So Lucy will need to use a catheter until we do know if anything can be done, otherwise her kidneys will be damaged too. He has promised to refer her back to clinic to learn how to self catheterise. 

He also told me that Lucy's pelvic floor is in a bad way. Another consultant will be dealing with this, again we have to wait a long time for an appointment. Best case scenario is physio therapy, worst is surgery. Surgery comes with the added complication of not working because of her EDS. 

It's good to have some answers even though they are vague. It's not good to know that my poor girls body is so screwed up. 

Update on my Latest Scan

 My consultant sent me for a scan to look for paraneoplastic signals for my pain in my chest. It went well and it came back almost clear. 

Firstly there were no issues in my chest, stomach or lower abdomen. Good news, my 'new pain' is not caused by cancer. I still don't know what is causing this pain but it looks like it's here to stay and yes, I'm getting used to it now. I've now got another new pain in my left thigh and groin but I'm so hoping this is a strain and will ease off in time. I don't want to get used to any more pains thank you very much.

The scan did show up a nodule on my thyroid which may or may not be cancerous. I will need another scan with contrast to find out. If it is it's one of the cancers that is easy treatable so I'm not stressing out about it. Plus it's been weeks now since it was found and they still haven't called me back in, so it can't be too serious can it! 

This is what I found on the NHS website:

Are thyroid nodules something to worry about?

The vast majority — more than 95% — of thyroid nodules are benign (noncancerous). If concern arises about the possibility of cancer, the doctor may simply recommend monitoring the nodule over time to see if it grows. Ultrasound can help evaluate a thyroid nodule and determine the need for biopsy.

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It's Never Ending Catheter problems

 Lucy has had a catheter for nearly 8 months now. The district nurse comes every month to check her and she has the catheter changed every 12 weeks. After the first change she had problems and we had to call the district nurse out. The catheter was leaking and she was in pain. The nurse managed to sort it out without having to change the catheter and a visit to the GP got her some medication to stop her bladder from having spasms. 

After the second change things were okay for a day or two. Then one night I found Lucy crying in the toilet. The catheter had come out completely and Lucy was desperate to go but couldn't. Her bladder was already full to maximum and she was in pain. It was 1am and I didn't know what to do. Her district nurse had a 24 hour emergency number in her pack which I called. The operator said he would get someone to call me back. Lucy was stressing out because she didn't want to go back into hospital. 

10 minutes after my call there was a knock at the door and it was a district nurse. She'd been seeing someone in the next street when my call had come through so she came straight around. She replaced the catheter and Lucy immediately filled the bag she was so desperate. I can't imagine how painful it must be to want to pee and not be able to. 

We've had no further problems until last night when the catheter bag kept coming un attached during the night. So we changed the bag and are keeping our fingers crossed. 

It looks like the bag is here to stay for now but we don't know why? I'm going to buy her some bag covers for going out to try and help her feel a bit more comfortable about it. 

The nurse is also trying to find out from the hospital what is happening. We have had no results from her urodynamic testing and she should have been for another trial without catheter by now. We don't think that's going to work though, the other night proved that she still can't pee! 

My Girls Enterography or MRE

 On 23rd February Lucy went for her Enterography, or MRE. 

Magnetic resonance enterography is an imaging test that lets your doctor see detailed pictures of your small intestine. It can pinpoint inflammation, bleeding, and other problems. It is also called MR enterography. The test uses a magnetic field to create detailed images of your organs. A computer analyzes the images.

The results came back that she did not have inflammation or any sign of disease. But she did have a very blocked bowel. 

She is now on 6 doses of Movicol a day until we get to see a colorectal surgeon to see where we go next. 

We have done many dis-impactions in the past. Including one in the hospital last September. It doesn't matter how many times we clear her out, she gets constipated again.

We have still not heard back about the cysts on her spine and whether they are having anything to do with her problems. 

We are once again in limbo until we find out what is going on. In the meantime it's tons of pads and disposable pants because it just keeps coming! 

Visit with Neuro Consultant 6th February 2023

 Today I had my six monthly visit with my neuro consultant. He is mostly concerned with how well I am doing on the IVIG as he has to get my medication approved each time. 

We talked about my chest pain which I have been told is musculoskeletal and he said it could very well be part of my condition. This is both reassuring and despairing. It's a new pain that I will just have to put up with forever. Trust me, I'm used to this, give me six months and it will... oh yes, that chest pain, it's annoying but I'm used to it now.  

Just to put my mind at rest he is going to request an abdominal and chest CT Scan to make sure nothing else is going on. If it is something else then it will be picked up. It might even be something that can be fixed, I can only hope. 

We talked about whether it was possible to have spasms while asleep. I know that I do, and my husband Graham can confer. He has had to wake me up when I'm having  a spasm. Yes, they still hurt but sometime it takes a while for them to get so bad that they wake me up. But, I did get into a discussion with a fellow sufferer online who claimed that you can't have spasms while sleeping and you have to wake up first. My consultant explained that because SPS is a condition that effects the Central Nervous System then the person does not have to be awake for it to be active. 

My consultant asked me to make a video talking about my condition, how it affects me, what triggers spasms, and how I feel after IVIG. He will use it to show his student doctors.