Hospital Appointment and The Spoon Theory

Last Thursday I had an appointment with a consultant rheumatologist. It was a good appointment in so far as she spent time with me, listened to me and explained things to me. She was only allotted 30 minutes for the appointment but I came out after about 45-50 minutes.

I'm a bit more defective than I thought I was but certainly not in comparison to some real bendies she has seen. It would seem I do have hypermobility in my larger joints (knees) where I didn't think I had. The slackness of my collagen has made my foot arches drop (again I hadn't realised) this has affected the angle of my knees and then my hips. My lower back is more curved than normal (again without studying multiple persons naked backs I was not aware my own curve was not the norm). My hips, as I did know, are very stretchy.

She was far from offended at my voicing my lack of faith in the NHS, which I think prompted the longer appointment.

I have been booked in for physio which I'm told will make me feel a lot worse before it starts to help and I'm not to expect it to help at any speed. My body has been failing me gradually for my whole life, it's not going to be fixed in a few weeks.

I'm also to be booked in for some relaxation sessions in an attempt to help my poor sleeping pattern.

For those people following me on twitter, you may well have seen me use the phrase "spoonie". This is in relation to an analogy created by Christine Miserandino to explain how it feels to live with any life debilitating illness. It is regularly used by people living with a variety of disorders as an open letter to family and friends in relation to how hard some days are.

I'm doing ok.

Below is the spoon theory explaining just how bad some days can be - though for me, not all days.

The Spoon Theory 

Little Man Heart Update

I thought I'd post a quick update on how little man's hospital appointment went on Wednesday when he went for an echocardiogram.

Firstly, everything was fine. His heart is fine. The issue is, with him being stretchy - with the Ehlers Danlos Syndrome, it's possible heart valves can be a little stretchy so not work as well. He doesn't have this issue, though they did say it is likely they will check him again at some point in the future.

Secondly, little man was really good about the whole thing. He loved seeing his heart on the screen and the blood flowing through it in blue and red and he loved hearing it beat. He listened intently as he was told that the animal with the longest pointiest heart is the giraffe with a three foot long heart.

Below is a picture of little mans actual heart.

Little Mans Echocardiogram

Following on from our Ehlers Danlos Syndrome diagnosis last month, little man and I have had various referrals to multiple hospitals for tests and support. The first of these is Wednesday when little man goes for an echocardiogram.

At first the prospect of this upset him. He said he would close his eyes as he didn't want to see inside his body. After explaining how cool it would be and showing him an old ultrasound photo of himself he seemed happier with the idea. (he's a little scientist in the making).

He's ok. Did I say I was ok? Nope. Not very ok. It's my little man and they're looking at his heart. I'm his mum though, it's my job to worry. If I don't worry I'm not doing my job properly, right?

I know it's just precautionary. They do this for everyone with this diagnosis. The odds are good that he won't have a problem, but then I wonder what the odds were we'd have this crappy genetic thingy anyway.

Once it's done I will be fine. There's just one problem though. I don't know when we get the results or who we get them from. The referring consultant was from the diagnostic clinic and they don't do follow ups. I hate waiting as well. I just want to know.

Once this is out the way I will wind back the neurotic mother routine.

Ehlers Danlos Syndrome Diagnosis

Wednesday 18th May 2011, 09.00 am. Waiting room in the genetics clinic with my little boy, specifically the Ehlers Danlos Syndrome diagnostic clinic. A date that I will always remember. It was early. There was one other person in the waiting area. It turned out he was a Doctor. Didn't seem to know where he was going, so I presumed he was a locum. Not ours though. Little man and I saw the specialist along with the genetic counsellor.

For the past year following a tentative diagnosis of EDS by little mans paediatric consultant I've been adamant that it also answered a lot of questions in relation to my own health issues as well as his.

Wednesday 18th May I had that confirmed. I was given the official diagnosis of Hypermobile Ehlers Danlos Syndrome and little man has inherited this from me.

Ironically enough, May is Ehlers Danlos awareness month, so I can tell you a little about this syndrome and what it means to my little man and I.

Ehlers Danlos is a connective tissue disorder where your body creates defective collagen.

Collagen is required for every part of your body, internally and externally. Depending on the defective part of the gene depends on the type of syndrome you have and how you will be effected.

For me, I have generalised hypermobilty. My joints stretch more than they should. Therefore in return, my joints hurt more than they should. My body generally hurts from trying to hold itself together. The two other main symptoms that I struggle with are; fatigue and migraines. Other than those three things, there are a multitude of things to cope with but they are bearable.

Between us we have been referred to three different hospitals for further tests and support. We have to have our hearts tested, we both have to see a rhuematologist and I have to have a tilt table test for symptoms that could suggest Postural orthostatic tachycardia syndrome.

It's a strange feeling having the diagnosis. It's one thing to think you have it, but another altogether to be told you definitely do have it. It's going to take some adjusting to but I know we can do it.

You will find further information on Ehlers Danlos syndrome on the UK Ehlers Danlos Support Group and the US Ehlers Danlos National Foundation 

Hospital Appointment

So let me tell you where we are in the process of the nhs deciding if my little man and I have Ehlers Danlos Syndrome 

In March I saw the consultant rheumatologist who stated he was unable to diagnose me as that was the role of the geneticist, but he said I scored a five on the beighton test which is a test of flexibility and a five or over puts you in the EDS camp. He referred me. 

Last month my little man saw his consultant paediatrician who originally came up with the EDS diagnosis last April. He again said little man is far too stetchy and states he thinks it's EDS. Another referral made. 

Quite surprisingly the EDS clinic have married up these two referrals and we have a joint appointment next Wednesday. I'm now anxious about it. 

Little man has twice been told he has EDS. A haematologist also suggested it was a collagen issue causing his capillaries to leak. My pain and exhaustion issues have gradually been getting worse over the last couple of years and my sister has similar and other issues. Having done my own research, listening to other consultants and discussing things with diagnosed EDS sufferers I am certain this is the issue but I'm worried we will be brushed off as we have been in the past simply because our bendyness abilities aren't in the extreme. 

On Wednesday I will be unhappy if its diagnosed and unhappy if they don't. Wednesday is pretty much going to be a crappy day. 

Health

On Wednesday my little man had his six month check up with the consultant paediatrician, Mr M. He reviewed his notes from our last visit and the letter from the Ehlers-Danlos clinic saying they wouldn't diagnose him but would see him in a year. It was at this point that I explained how unhappy I was with the service at the EDS clinic and how if little man had this disorder I wanted it diagnosing due to potential further health problems. 

Mr M then asked how little man was and I said he was ok, but he'd had problems with his knee a couple of weeks ago as well as the usual occasional leaky capillaries which are the norm for him.  He then checked little mans joints. His knee first. His knee is really hyper mobile and Mr M even moved it side to side in it's socket. His thumbs, though not quite touching his forearm on testing did go a lot further than your average child. The rather wonderful Mr M then said little man is very stretchy, believes he has EDS and is writing yet again to the EDS clinic. 

I felt heard and I felt that this past year hasn't all been fished out of thin air by my overactive imagination. 

No one wants this diagnosis but if it's there you really need to know. 

Now we wait for my appointment in June and little mans in the summer. It's a long wait. 

Rheumatology Appointment

On Monday I had an appointment with the rheumatologist. My GP had referred me back to him to query ehlers danlos syndrome after he had given me a diagnosis of fibromyalgia. A complaint often running alongside EDS. 

I went fully expecting the consultant to do the examination and give me a diagnosis,  or not, depending on his medical opinion. I was really pleased I might finally get some answers, though anxious about what it would mean to my life. 

Imagine my emotional drop when he told me he couldn't do the diagnosis and had to refer me to the genetics team to assess me for EDS. He did tell me that I scored a 5 on the beighton scale (which puts me in the bendy enough for EDS category). I felt even more gutted. I genuinely feel that EDS is the problem as there are relevant issues with my son and my sister as well as my own. 

Why on earth did he make me wait two months for an appointment when he knew he couldn't do a diagnosis? I'm so frustrated with it all. I'm struggling with pain and exhaustion and just want answers so I can deal with it and adjust my life and potentially my sons life and get on with it. 

I have no faith in our local genetics team as they weren't very helpful last year. I'm now considering calling the consultants secretary and asking for the referral to go to a London consultant I've been recommended. It's a long trek but it could prove more helpful. I have to ask myself if I do this or be more vocal when seeing the local team. 

Yet again there is more waiting. 

This is my Today

I ummed and ahhed about whether I was going to post this blog post today or if I was even going to write it. You see I thought it would be a bit too depressing for my blog, but then considered that it's part of my life and quite a significant part at the minute, so here it is.

Ive been really quite angry today. This has made me quiet with my children and withdrawn. I don't want to hurt anyone when I'm hurting.

It's the pain. Not just the pain, the exhaustion is pretty upsetting to be honest. The pain has been in my chest today. Round my left collar bone area. I'm tired and I'm hurting and I have an appointment in just over a week with the rheumatologist. A man who barely paid me any attention when I first went, yet managed to diagnose me with fibromyalgia. Now he's looking at me for ehlers danios syndrome at the request of my gp. This appointment is now playing on my mind

Will he pay any more attention than he did last time, will he even look up from his note pad to even see what I look like?

Will he listen to all the things I have to say or ask me the simple questions? Am I hypermobile and do I have pain? Yes to both, but eds comes with more and I have more to say. Yet I feel that I have to talk at a rate of knots just to say what I want to say before he looks up and sends me out the door.

If this eds I want to know. I want to know for me and I want to know for my son.

I don't want to be fobbed off anymore. But what if he doesn't fob me off. What if he says yes, it's EDS. I have my answer. Will I then give in to it? Use it as an excuse or will I be able to then get up and fight it and live my life? What will happen to my career?

I don't want this, but I don't want him to say its not either. If he says it's not he won't provide me with alternative answers. He will look at his notebook and say goodbye. Last time he gave me a leaflet and told me to look it up on the Internet!

Today I am tired of being tired. Sick of the sick. Its making me angry and frustrated. I don't enjoy feeling this way and I know others don't want to see me this way or read this and this makes me even more frustrated.

This is my today. Hopefully tomorrow will be better

Frustration with the NHS

As some of you may be aware, for nearly a year I have been going through a potential diagnosis of Ehlers Danlos Syndrome for my youngest. It was officially first diagnosed in April last year, but previous to that other consultants had mentioned his problems could be a collagen issue, which is what EDS is. We saw a "specialist" who didn't feel he fitted into the EDS box, but in my eyes it was because his symptoms weren't extreme. She said, "it's either mild EDS or he's a little more flexible than other kids" mmm. She mentioned however that she would talk to a German Dr who was doing research on children with capillary fragility which my son has.

Yesterday I received a call from the genetic counsellor saying that the German Dr didn't know why he leaked blood and that's the end of that. They will follow him up in the summer.

Before he was "diagnosed" I had been complaining of joint pain to my GP. Last year I was diagnosed by a rheumatologist with fibromyalgia. I told my GP that this was a huge coincidence considering the issues with my son. He agreed and wrote to the rheumatologist and I have another appointment at the end of the month, I'm presuming to be assessed for EDS.

Last night I was woken up by pain in my shoulder. It felt as though my arm wasn't quite screwed in right, so I wriggled it around until it was. Today I've felt physically fragile. Joints hurting and feeling as though they will misalign at any point.

I'm frustrated waiting for this appointment. I'm frustrated that these issues aren't being picked up. I'm frustrated that I have to push professional Doctors to actually look at a patient when they walk through the door rather than start writing the minute they walk in and do half an assessment so that they can get you out and get the next patient in. What's the point in getting through patients if you aren't offering them any service whatsoever?  

So all in all, today I am frustrated.

Update on Sons Health

It's been a while since I updated the blog on the progression of the investigation into my sons health, so I thought I would do a quick update this evening. 

We did see the head Ehlers Danlos consultant, several weeks ago and she didn't think he quite fitted into the EDS category just now. He is hypermobile, but he could be more hypermobile then "normal" people or a little hypermobile. She just didn't want to call it. 

She mentioned his chest wall shape isn't right, but didn't elaborate. She didn't know what the leaking capillaries were about, so said she will see him again in a year.

A few weeks later, I received a letter from her, where she informed me she had attended a conference where she had spoke with a German Doctor researching children with capiliritis type issues and asked permission to discuss my son directly with him, to see if this can help in a diagnosis for him. I returned contact informing her it was definitely ok.

We then went to a follow up appointment last week, with the head paediatrician consultant who original diagnosed Ehlers Danlos. He took on board what the specialist had said, but when I asked if it could be a different connective tissue disorder and mentioned his chest shape, he really didn't know. He's now keeping an eye on him six monthly, to see if there are any progression of symptoms or new arrival symptoms. 

I'm hoping the German Doctor has something to offer, as seeing my little boy bleed into his skin on his torso regularly, really doesn't feel right for me, in fact it just make me anxious. 

I am a lot calmer than I was before, though. I'm no longer climbing the walls. My son is generally healthy within his day to day life, so I will take this in my stride, even if I am watching him like a hawk!. 

Tick in a box

My thoughts, feelings and actions from Wednesday are disjointed and all over the place,so writing a blog entry about it, that makes any sense, could prove difficult. This morning, however, I am going to give it a bash before I get on with an Open University assignment.

We saw, according to her, one of the top two Ehlers Danlos consultants in the country.

She started by asking a few questions about my sons developmental speed when he was young, etc and then did the hypermobile tests again. She said he was more hypermobile than the original Doctor had stated, and that he scored a 4 maybe a 5 on the Beighton score(he refused to touch the floor, which he can normally do). He is very hypermobile in his knees. She also said I scored higher than the original Doctor said, but didn't tell me what it was. (I was a 3 last time)

She asked me about his chest wall shape (I think you would call it a pigeon chest) asking if it has always been this way. I said it had. She asked if he had trouble breathing when he was born, which I replied, temporarily as he was premature, but a Doctor was in delivery room and he was soon ok. I'm not sure on the relevance of his rib cage shape, but she didn't say anything else. She also didn't mention the veins you can see across his chest.

She said he is a little stretchy around his face, but that is the only place. She asked about scarring from injuries, which he has none and then regarding the hypermobility, she stated he was either a little hypermobile or just a little more flexible than most people and she wasn't comfortable putting him the EDS box.

She said he didn't have Vascular EDS because large joints (his knees) wouldn't factor in that. I queried his leaking capillaries and she said no known case of Vascular EDS has ever presented to her with capillary fragility so she doesn't believe it is a part of the syndrome. He did have some petichae rash for her to see, which she said she could biopsy to look at the capillary walls to see what was causing it, but didn't want to do it that day as it could have come back inconclusive and he would need more of them and she didn't want to scare him off, so she is seeing him in a year. She also said that Doctors all over the country send their biopsy's to them for analysis and that they ask them to tick certain criteria boxes to make sure that the biopsy is warranted.

When I was informed that I was seeing this consultant, the phrase "Ehlers Danlos can be difficult to diagnose" was said, in realtion to the fact that this consultant was more knowledgeable. Yet here was the top consultant, just ticking boxes. Not looking at any wider picture, considering all things, she was just going through the ticky box test as the previous Doctor had done. There is nothing difficult about ticking boxes. I have read so much about this disorder now that I could do the ticky box test! I thought she was bringing a more experienced overview to the consultation, but all she saw when she looked at my child were ticky boxes.


She said he doesn't have EDS but is seeing him again.

I'm unsure about this, it just seems strange he is a little hypermobile, skin stretches around his face, his rib cage is misshaped, and his capillaries leak. (plus he has quite a bit of nausea(he has a comfort bucket rather than a comfort blanket!) and some leg pain)

I'm a "little" hypermobile, I'm having quite a lot of pain in my small joints as well as my hips and my gall bladder was removed as it wasn't emptying properly (could this be eds related?)

I'm worried something is wrong and it's not being picked up, but after a second opinion I suppose I have to let go of it for a year and see what happens then. I have started a diary of sorts for my son now, keeping photo's and lists of things and will keep a close eye on him.

I have also researched on the internet "ehlers danlos" + "capillary fragility" and "ehlers danlos" + "petechiae" both bring back links, recent links, of patients presenting with this as EDS. I have also researched "pigeon chest" and it would appear, that can be caused by a connective tissue disorder.

I will continue reading, gathering information and then assess what I have to do with it, whether that is to wait a year or push harder. I don't want my little boy to have this as I've said before, but he sure as hell is not just a tick in a box.

Progression

I find it incredibly difficult to write and post when I'm really stressed about something, which is why it's taken me a couple of days to catch up with this. Strange really, when the whole point of my blogging is having somewhere for me to write things down, put my feelings in a space rather than have them circulating around my head like stagnant water.

It's late (for me) I've been in bed for hours, in fact I went to bed before my son. I was exhausted. The emotional drain is having it's physical impact. I'm sure my husband is thrilled when I take myself off to bed a 6.30pm and leave him alone for the evening. Anyway, I've woken up and come downstairs to make a cup of tea and thought I would try and get down what has happened to get me so worked up again.

I spent all weekend researching Vascular Ehlers Danlos Syndrome (Apparently, vascular is it's preferred name nowadays, rather than type IV) and writing down everything I found, that I felt would be useful in a talk with the genetic counsellor when I called her. I wanted to be informed, know my facts and have some kind of leg to stand on when asking for someone else to look at my son. I also wrote down all the information I could about my son that I thought, again, could be relevant and back up my argument for another assessment.

I found research by the Mayo clinic, in 2007, that stated in only 30% of cases, did patients present with the "typical" look and yet, the Dr seeing my son, completely discounted him on this fact alone, that he didn't "look" as though he had vascular type EDS.

I also found research on the National Centre for Biotechnology Information which is a recognised dot gov site, relating to capillary fragility ~

"Easy bruising is, to a variable degree, present in all subtypes of EDS, and is because of fragility of the capillaries and the perivascular connective tissues. Vascular fragility affecting medium-sized and large arteries and veins is typically observed in the vascular subtype of EDS, caused by a molecular defect in collagen type III, an important constituent of blood vessel walls and hollow organs."

and yet, my son's capillary fragility had, again, been discarded as not relevant.

As far as my lists and notes in relation to my son, he has easy bruising/capillary fragility, some hypermobility, translucent skin (where you can see his veins through his chest), limb pain in his legs and a lot of tummy pain and nausea.

After making my lists I was adamant I had enough to warrant his being seen again, by someone that knew what they were doing. I was armed and I was a bloody angry worked up parent.

In this worked up state and with my pages of notes in hand, I called the hospital and requested to speak with the genetic counsellor whom had been present. She wasn't in and would return my call the following day. Wasn't it?? I'd got lists!

I spent all of yesterday at work, clock watching, checking my lists and looking at the clock some more, until eventually about 1.30pm she called.

I started by telling her I wasn't happy with how the appointment went last Wednesday, pointing out that the Doctor had asked for her opinion several times and had at one point stated that she, the counsellor, knew more about the topic in hand that she did and this bothered me, because if the Doctor didn't have confidence in her own ability, then how was I to have confidence in her.

I went on to admit I had written notes and apologised if I was stilted as I talked. I discussed all the above and then went on to say that in relation to the Doctor dismissing his fragile capillaries, two other Doctors in my son's short six year life, had put the fragility down to collagen. The consultant paediatrician that had referred him and a dermatologist had mentioned it several years ago.

I don't think I had to try so hard, to have made so many notes, as the counsellor had already spoken with the consultant in the specialist EDS clinic, who was "more than happy to see him" She had spoken about him to the consultant on the simple facts she already knew about him after being informed I had called and wanted to talk with her. Without knowing my concerns, the consultant had enough information from the counsellor to say she would see him in the specialist clinic.

The disorder is little known about and there are only two clinics in the UK that specialise in EDS and are the national clinics. One is in Great Ormond Street Hospital and the other in Sheffield Children's Hospital, and now, finally, my little boy was going to get a proper assessment by people who understand the disorder.

The counsellor was lovely with me. She had listened intently as I rambled and appeared to understand. She said my little man would probably have a biopsy, which is the test for vascular EDS. This scares me as he will be distraught, he hates Doctors and hospitals as I keep taking him since he was a baby, so he gets all quiet and upset when he has to go. I won't tell him he's going back to a hospital until maybe the day before and I certainly won't tell him about the biopsy.

The scary bit about all this is that we now have an appointment for next Wednesday 1st September.

I'm scared again now EDS is back on the table, of the type they will test him for, but so glad I was taken seriously.

So now I'm being stressful me, unfocussed, tired, and trying to get through until Wednesday, where I know I will be talked to, explained to and treated like an anxious mum who deserves to know what decisions are being made and why.

The "Consultation"

It was supposed to be a consultation. There were 45 minutes blocked off for it. We entered the room and met someone I presumed was the geneticist but all I think I heard her say was her name, not who she was in the scheme of things. My nerves had got the better of me and my body was letting me down. I felt so jittery and I don't think my ears were actually functioning when we first went in. Also in the room was the genetic counsellor I met a couple of months ago when she came to the house to get a family history.

There are 6 types of Ehlers Danlos Syndrome and each type has it's own set of problems and symptoms. All in relation to collagen, the connective tissue of our bodies, which makes up 80% of our body. It's not just an external thing, collagen is responsible for keeping together and helping our internal organs function.

The most common two, classical and hypermobility are pretty similar and they both exhibit signs of hyper mobility (flexibility) and skin elasticity.

The Doctor tested my son against the Beighton score for hypermobility. A score of 5 or more, puts him in the hypermobile camp. He scored 3, being hypermobile (bendy) but not in all the right places. The Beighton score is very rigid, in that they bend 9 specific joints and you score a point for each one you bend more than you should. Although he only scored three, he is bendy in other area's but this doesn't count. During these nine bendy tests, the person I presumed was the geneticist asked for the opinion of the counsellor on his bendyness.

She then checked the elasticity of his skin and wasn't sure, so asked the counsellor present for her opinion and then ruled it out as children are "difficult" She even commented to the counsellor ~ you know more about this than me..... (!!!)

She viewed his bruises on his shins and saw the petichiae rash on his torso but appeared to ignore it.

She then went on to tell me that he doesn't have the two more common types of EDS as he didn't pass the Beighton test and he didn't have vascular type as he doesn't have the "look" which is "typical" of vascular type. Along with that "look" (pinched nose, wide eyes, thin lips) there are several other quite significant indicators of Vascular EDS but she had already made her mind up and didn't look for the other symptoms or ask any questions. I'm not sure she was even paying attention when I tried to speak.

I was dumbfounded. She just dismissed us. I tried to fight to be heard, asking if his leaking capillaries were relevant and she said no, that it is just capillary fragility. I asked, "fragile because of the collagen?" all she answered was no.

Here she was dealing with an anxious mother and she didn't reassure, explain or question, she just looked as though she was rushing her way through it and sent us on our way after only fifteen minutes in there.

I was furious, but couldn't voice it, I felt wrong for pushing, as though I want him to have this terrible disorder, but I don't want him to have it, I just don't want him to have it and not be diagnosed with it.

On the way out, the counsellor said I could call her if I had any questions. Questions??!!

The research I have since done and the questions I most definitely will be asking on Monday are for another post....

Ehlers-Danlos Syndrome

It's been four months since the paediatrician uttered the words Ehlers Danlos Syndrome in relation to my 6 yr old little boy, and since then, I've read and researched what I can. I've seen the genetic counsellor and this afternoon we have our appointment with the geneticist where a diagnosis, I presume, will be final.

Four months of wondering and worrying and looking oddly at my little boy wondering if he looks like an alien! Holding on to that one sentence the counsellor said when she saw a photograph of him and saying that his eyes are quite wide set and gripping onto the worst case scenarios as only we of the human race can. Seeing veins in his chest and wondering if they are visible because of this awful syndrome or just because he is generally the thinnest child that I have ever seen.

He is my world (him and my daughter who is older and not flexible in the slightest) I feel as though I am waiting for a life sentence to be handed to me, in waiting for this professionals, professional medical opinion on my little boy. This person who will verbally hand down a sentence, whatever that may be. I can't settle my mind, I can't concentrate on one thing. A little over an hour before we leave the house and I feel like a highly strung spring about to be released into who knows what.

I know that knowing will be a better state. I will have to deal then, rather than let my imagination loose. I can deal in facts and be able to "do" things, whatever those things are.

Two hours until there's no way out, the diagnosis will stand. Two hours.