February 12, 2014 at 4:27 pm #75218Suspected Ullrich Myopathy
Hi, I’m new to the forums, but wanted to post & hopefully get some feedback from other parents.
My son is 15 and was born with bilateral hip dysplasia, had lots of surgery, and was diagnosed with Ehlers-Danlos Syndrome by rheumatologists at GOSH. His orthopaedic surgeon, however, didn’t think he had EDS & agreed to refer him to the genetics clinic for investigation. He was due to have more surgery & so they arranged to get both skin & muscle biopsies done at the same time. The genetics doctor was great at phoning me and keeping me posted. They had team conference about Kobe’s case, and with his symptoms (including them finding he has “contractures” of his finger joints at the tip, and something not right about his toes too), they did suspect Ullrich Myopathy. The muscle biopsy came back with “myopathic changes” and this then led them to tell me that was what they still suspected (as did their pathologist), so they referred him to the Dubowitz neuromuscular centre, but he hasn’t got an appointment until April (geneticists told me all of this in August).
I have spoken with one of the nurse specialists there as there was so much confusion (I was told collagen VI blood tests were stopped by one of the neuromuscular docs) and it seems they have to now get Kobe’s muscle biopsy done by their own pathologists, then decide which further tests need to be done… and that collagen VI is not one they would do straight away, so is on hold.
I am so anxious – have been worrying since August – and I know I need to wait until April, but to be honest, it’s feeling impossible right now.
I’m not sure really what help anyone could give, but any input would be great! Does “myopathic changes” definitely mean muscular dystrophy? Could it possibly be the case that he doesn’t have any form of MD? I understand that EDS is often confused with Ullrich, and from looking at the signs & symptoms, it sounds like a checklist of what he’s gone through.
Confused & stressed of N London.
February 12, 2014 at 5:23 pm #93560Re: Suspected Ullrich Myopathy
Hi welcome to the forum.
This must be a very worrying time for you and your family, I can’t answer your specific questions but I have found a fact sheet which explains Myopathy better
Have you thought of maybe contacting your local regional care advisor care advisors they maybe of some help.VickiParticipantPosts: 1,015Joined: 05/03/2015February 12, 2014 at 6:55 pm #93561Re: Suspected Ullrich Myopathy
I am 36 and have suspected Ulrich CMD too. In my case I fit the diagnosis clinically but they are yet to find proof genetically. The geneticists are coming up with new techniques and discovering new genetic mutations within UCMD all the time and my limited understanding is that it is not always easy to pinpoint, in my case it hasn’t been but then I’ve always been awkward!
I find it frustrating sometimes, waiting for things to happen so it must be even more so if you’re a parent. Please ask any questions here and we will help if we can. I have been seen by the Dubowitz team and am possibly biased but they are a known centre of excellence. I hope they can give you some answers soon. As Vicki says, there is support available if you feel you need it.
A learning experience is one of those things that say, “You know that thing you just did? Don’t do that.” - Douglas Adamssar78ModeratorPosts: 2,246Joined: 05/03/2015February 12, 2014 at 7:37 pm #93562Re: Suspected Ullrich Myopathy
Thank you both for your replies! Vicki, that information on myopathy is brilliant. I *know* I just need to be patient & that it might take a long time to diagnose, but that’s not really my strong point! I spoke with a really lovely lady on the Muscular Dystrophy Org number today & she is kindly asking someone to get in contact with me. It might be that things will become clearer after his April appt, and I’m trying hard to resist looking into Ullrich too much in case that is dismissed! I don’t know how you all cope!! I thought his medical history was “complex” before this…April 14, 2014 at 8:41 pm #93563Re: Suspected Ullrich Myopathy
Just wanted to update. We saw specialist at GOS last week, and they are certain it is not Ullrich, but rather, Bethlem Myopathy, but the muscle biopsies have still not been done by their pathologists (sigh) and they are re-starting the Collagen VI tests, then we’ll know better.
I’m afraid the appt was really confusing, and rather than leaving me feeling supported, the consultant left me feeling dismissed, patronised and like a bit of a nuisance.
So sick of all the stuff that goes with dealing with doctors and their egos….April 15, 2014 at 11:00 am #93564Re: Suspected Ullrich Myopathy
Oh dear, it can be demoralising thinking you are going to get answers and come away confused and dismissed. Well I for one [and I am not alone] will state you are not a nuisance, the Consultant might not be the best with bedside manner and is likely dealing with something he has little to no knowledge about. Although sometime being a bit of nuisance gets you heard
Now that Ullrich has been struck off the list and attention is being paid to Bethlem, hopefully 8fingers-crossed* you will get more positive support and understanding.
I'm always the animal, my body's the cage
I blog about nothingness www.amgroves.comApril 25, 2014 at 11:28 am #93565Re: Suspected Ullrich Myopathy
Thanks a million.
I decided to email the consultant & explain how I felt, and his secretary has emailed to tell me he has written me a reply & its in the post today, with the clinic letter. I felt awful emailing with such negativity, and said so, but she said not to apologise & they welcome all feedback. I just hope the letter & clinic letter resolve this a bit.
I’m feeling really low, struggling as a single parent, with zero support (my own mother forgot that my son had this appt, despite knowing for 8 months & consequently, I have emailed her too to explain how hurt & disappointed I am – almost 2 weeks and NO REPLY). I just feel so isolated with it all and my head is screaming “IT’S NOT FAIR”!
I’m sure many of you are well aware of that!
KApril 25, 2014 at 11:51 am #93566Re: Suspected Ullrich Myopathy
Oh dear – it is good that you got a response from the secretary and the consultant and were not arbitrarily dismissed. Hopefully the letter you are expecting will be something positive that all can move forward from.
As for Mum, not much I can say really. Yes, you are the one in the middle, feeling all sorts of justifiable things, but Mum is having to watch her daughter struggle and her grandchild struggle and for some they simply do not know what to do, how to be. Things are exceptionally raw and emotional for you all right now – maybe time is needed to just let things settle and mind to adjust.
I'm always the animal, my body's the cage
I blog about nothingness www.amgroves.comApril 27, 2014 at 12:59 pm #93567Re: Suspected Ullrich Myopathy
Question and answer session on Ullrich / C.M.D. On 1st May on the MDC Facebook page:-
"Even if you are not paranoid, it does not mean they are not out to get you!".taungfoxParticipantPosts: 4,630Joined: 27/09/2010April 30, 2014 at 4:20 am #93568Re: Suspected Ullrich Myopathy
Thank you AMGod.
The consultant’s letter & clinic letter arrived & he was actually apologetic & wants to see us so he can explain more about Bethlem & apologise in person – I feel a weight has lifted & that I’ve been “heard”. As for my mother – I’m afraid it’s the straw that broke the camel’s back in our relationship. Things have been awful & I’ve always bit my tongue. But, I’m feeling better about speaking up for myself – it’s uncharted territory for me!!
Thank you again!
Kay xApril 30, 2014 at 8:44 am #93569Re: Suspected Ullrich Myopathy
WooHoo – that is a high five result from your Consultant and like you say, it must feel so good to know you have been heard.
Arhh yes, the point where child truly shakes the shackles of the parent, and stands up strong alone. My Mum accepted my growing up and moving on, my Dad not so much.
I'm always the animal, my body's the cage
I blog about nothingness www.amgroves.comMay 7, 2014 at 7:27 pm #93570Re: Suspected Ullrich Myopathy
Thanks again AMGmod – I feel a bit better now, definitely feeling I’ve been “heard”. I have a fantastically supportive GP who I saw this week, as my depression is really bad, and I’m seeing a wonderful therapist, but only until I get on the waiting list for a long-term therapist. I feel like I’m living in the reality of our situation now – my mum was no help or support, so she’s now out (my dad I haven’t seen since I was 20), and I rarely hear from my brother – so it really is just Kobe & I. Without the pretense that I have family support. But that’s probably a good thing. I knew it, and resented my mother *thinking* she was involved. But it means I really am isolated. Ah well. We’ve got through worse and will again.
I just want these biopsy results to hurry up so we know a bit better whether it’s Bethlem or something else. Especially as Kobe has to apply for PIP after next month (his 16th birthday).
I’m glad to have you guys to share with. Thanks for understanding!
KJune 3, 2014 at 11:34 am #93572Re: Suspected Ullrich Myopathy
Maybe it is just me but you do sound more on-top with things in your latest post (y)
Thanks! I wish I could say things have remained more “on-top”… but that’s a whole other story. I’m definitely not so stressed about it, and hope that when we see the consultant again, that we get more information. Right now, however, is GCSE time, so I’m occupied with asking every 5 minutes “how’s your revision going?”
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