Hoping you can help me. My son and I were diagnosed with EDS hypermobility type with features of classical in 2012 by a rheumatologist and were then sent to see a geneticist who agrees with the diagnosis and took photos of our joints (particularly some of my sons and his skin manifestations).
We have differing issues to an extent: mine was a 'late' diagnosis in my 40's after numerous joint dislocations, subluxations, injuries, reconstructions, pain, fatigue, early onset degenerative discs, osteopenia etc until finally someone put two and two together and gave the correct diagnosis rather than "oh you've got bad luck - back here at orthopaedic clinic/GP - again" type of comments/eye rolls etc.
My son on the other hand as a result of my diagnosis first, got an early diagnosis himself aged 10. He has pain in joints and fatigue. His core tone, balance and proprioception is very poor (initially they thought he had dyspraxia). This causes him huge daily issues. He has osgood schlatters in his knees and on diagnosis his shoulders, knees, ankles, back, neck, fingers and wrists were very hypermobile, some of which were adding to the trips and falls he was experiencing. He has frequent migraines due to neck instability.
By age 12, his shoulders were so bad (daily dislocations and subluxations upto 11-15 times a day from minor/normal activities such as picking up his school bag/putting a cup on the table). He had one reconstructed age 12, the other age 13 and both surgeries have been very successful.
However, amongst this process, we have both found local services extremely disjointed and clinicians lacking any knowledge about EDS. After 2 years of physio myself with no progress, in addition to other systemic issues, my care clinicians had an MDT meeting and decided I needed more coordinated care and an overall management plan so referred me on to Stanmore and uclh. Good for me.
Similar issue with respect to my son, so they decided to refer him to GOSH. We and the local team thought our prayers had been answered when his referral was accepted.
In addition to EDS my son has Aspergers, ADHD, verbal tics and sensory processing disorder, all of which were highlighted by myself and our local physio during the referral process. We both explicitly stated there is a way in which to engage Flinn that works and one that isn't. Ideally he needs to build trust in one person.
We finally had our initial appointment 3 weeks ago (I would have written this sooner but on our way home in hospital transport we were involved in a major RTA and had to be cut from the car. My son is ok apart from whiplash and now anxiety/trauma about me. I'm not so good thanks to traumatic/intrusive thoughts - we both thought each other was dead at the scene of the crash and I've been in hospital since with severe pelvic, abdominal and chest wall injuries - it's not been a great time for us).
Adding to this was my complete and utter - I can't even describe it to be honest - let down, frustration, anger (I feel so much more but can't adequately describe it) at the attitude and comments we encountered at GOSH, supposedly the expert hospital.
We were supposed to have a 4 hour appointment: first with the rheumatologist, next with the physio/OT and then with the psychologist. They were running late and decided to have everyone in the room together at the same time throwing questions at is - nobody explained they were running late or that we'd consequently be seen by all at the same time. It was one of the worst appointments we've ever attended.
We walked in and were confronted by a sea of unfriendly faces (bar the psychologist). My son has social anxiety as a result of his ASD so having spent time preparing him for what we thought and were told the process would be for the appointment this went straight out the window and he panicked as he was bombarded with questions. He kept looking at me helplessly and got himself so worked up he just sat and said 'I'm fine'. The OT didn't ask anything. The physio was awful. She said she wanted to examine my son and when he went over to the couch she started poking at him without any preparation (he can't bear to be touched without advance warning) and struggles to 'relax' when told to do so, so lay there tensely. She then pronounced well your not that hypermobile and made derogatory remarks about his poor proprioception and was laughing at him as "when I said move up the bed you couldn't do that without your head and shoulders falling off the end of the bed. And when I asked you to move down the bed you did so far you almost fell off the end. Your body awareness is terrible isn't it". The poor kid deflated in front of her. He's more than well aware of the issues he has. I challenged the attitude and was met with the comment "oh I was just teasing him". The physio was a short/dumpy woman - not an example of someone fit and athletic. She then slated my son for being 'stiff muscled' and having 'poor muscle tone' compared to others his age and said 'well you can't be that active' (not allowing any opportunity for either of us to say actually given the orthopaedic/exercise limitations imposed by his consultants following reconstructive surgeries, he actually walks, cycles and swims daily. She then sat throughout the rest of the consultation messaging someone back and forth on her phone. Whenever she caught me pointedly glaring at her she'd apologise and say "oh it's a busy day, I keep getting messages" (?really). The reumatologist wasn't much better. Totally ignored gastro issues highlighted etc and basically told my son to eat more fruit and veg and drink more water - he has plenty already much more than most and has struggled with his bowels for years. She also ignored the migraines and dizziness he experiences standing and sitting and palpitations. The psychologist was more interested in who diagnosed my son with ASD/ADHD etc than his pain, fatigue and anger at being diagnosed with EDS, the impact of his reconstructive surgery and how he felt about everything.
Just as we thought things couldn't get any worse, they all stood up and the physio said we're just going outside to discuss and compare our findings. We'll be back in shortly to let you know what we think/the plan is.
After quite some time they returned and the physio said "well I don't know what you were like when you were younger (surely they'd read his notes/referral letters/X-rays etc??), but you aren't very flexible any more, your too stiff. Your shoulders aren't hypermobile (duh - they've been reconstructed) and the rest of you needs to be stretched as tight muscles cause pain. We think you've "grown out" of your EDS - don't worry, you don't have a nasty, genetic disease like your mother! They then asked what sports he'd like to be able to do and my son automatically said rugby (contact sports having been banned by the orthopaedic consultant due to the shoukder surgery and anchors in his shoulders) as he missed it and the physio said "we don't see any reason why you can't go back to that" (have they actually read his notes at all/listened at all/ understood the surgery he's had?). At this point I asked all these questions and sure enough they hadn't and asked permission to speak to everyone involved in his care - permission I gave a year earlier and all the clinicians who had already sent in reports in prep for the assessment.
Ultimately, they offered a 2 week pain management admission, gave him false assurance setting up a huge issue due to his ASD that he could go back to rugby despite his orthopaedic consultant categorically saying not a chance in hell (without actually asking or reading his expert advice), ignored all reports and evidence, and rounded it off by saying he'd grown out of EDS and didn't have a 'nasty genetic disease like mum'.
Sorry for the long essay. I'm just wondering what you all think? I left feeling totally furious and as if they couldn't care less about my son, his needs, the difficulties he has had. I felt they were rude and dismissive. I couldn't get my head around 'growing out of' EDS. It's my understanding that you can't - you can stiffen up but the underlying defect is still present (as an example my sons shoulders are becoming more lax again, to the point we've been advised of a high likelihood of repeat surgery; the systemic issues are still present: the clotting issues; multijount pain, migraines, palpitations, sluggish bowel etc). They didn't even bother doing the bloods etc they said they were good to, to rule out inflammatory conditions etc.
I felt the entire visit was a total waste of time. I left feeling deflated and then was thinking maybe I'm totally over-reacting. I don't think so, I feel this is more of the same shitty, dismissive attitude we both experienced until getting a diagnosis, at which point things changed. Thanks to GOSH we've gone backwards not forwards hugely and I wasn't expecting it from them.
I have a huge issue with the entire appointment and the manner in which it was handled given my sons known difficulties, the comments of certain people and the way in which they spoke to my son. Essentially they ignored me as he's 14 despite the fact they flummoxed him to the point of him saying "mum you tell them", which I did only for them to dismiss my comments and observations. Bitterly disappointed doesn't cover it! The issue now is what to do about it. Ang thoughts would be most appreciated.