Many thanks for the welcome and help.
nonyanomemory wrote:I believe the condition ITB can be caused by excessive counter rotation of the tibia and femur as a result of over-pronation.
That's certainly one of the explanations I've read about it, along with a shorter ITB that is tight and training issues etc. My interest I suppose in asking, was to know if the weakened collagen in HMS would lead to something like the ITB tearing more easily when used normally. He may well have a pronation type issue, but the damage seemed to occur when he got up out of a chair, having been still for some time - which if my understanding of HMS is correct, both stiffness after being still and a tendency to injure easily are common. I believe - also not as a doctor myself - that his current ITB 'inflamation' is an acute issue rather than a chronic one. He can pinpoint exactly when he damaged it, it isn't something he's experienced ever before that incident.
It might just be an unfortunate on-off injury, but it might also indicate potential future problems, which my main concern would be to get an understanding of and conduct himself appropriatelty to avoid problems if he has a tendency towards injury - if stretching and appropriate exercise might help him etc.
It may help your son to see a podiatrist at the earliest opportunity. It may help your son's gp to see that it is not just Cushing's syndrome that is connected with 'striae' stretch marks but also ehlers danlos hypermobility/hms
But that's just where we have a problem - if his GP is unwilling to even consider HMS as a possibility (possibly because he's never heard of it, as you say) there's no hope of getting any appropriate referral. He's decided that it's Cushing's as has closed the matter until he has some results or a report to read. I've done some reading on Cushing's too and just can't make it fit him at all - apart from the stretch marks (which the doc never looked at - I aways assumed they were because he was always very big for his age) and a tendency towards being spotty and them not healing - and he's 19 after all and the spots are exactly the same as all his chum's - he has no other indicators at all. He's 6'2" and very strong and broad (i.e. not marfanoid in any way) - he's a big lad who enjoyed rude good health until this incident - he's been to the docs more times over this injury than in his entire life to date.
the family history you have provided it does seem to point toward a connective tissue problem. Perhaps you could ask that your son has an referral to a rheumatologist for clarification
The only way his doctor is going to even consider this further is if my sister and/or I both get some sort of official diagnosis - and that's not going to be easy either. We're both seeing our GPs later this week. She has a good relationship with hers as she was training as a doc as my sister was training as a nurse, so there's professional respect and understanding. My GP is fairly new to me as my favourite one moved into palliative care, but my husband has been very acutely ill and recovering recently and he's been exceptional with him - he's a gentle and quiet listener, who puts his pen down and meets your eye - always an encouraging sign I feel - I hate when doctors are seemingly doing something else more interesting when you bare your soul to them! He's already seen me for an injured sacroiliac, so he knows I have pain and I'd already made the appointment to see him about that before this surfaced. My arthritis, bad healing scars, prolapsed bladder, unexplained palpitations amongst others, are all on record, as I've had treatment for all of these in recent times, so there's a recorded history of many of the 'minor criteria'.
It may be worth going to a different doctor and asking for a referral to a rheumatologist.
I think we need to wait and see how I go on and then re-approach it perhaps - it's tricky for him as he only moved away to uni this September and decided to take up a doctor there and has limited choice. There are other doctors in the practice, but as yet, they're all totally new to us and not had the opportunity to become trusted the way a family doctor does, over time. My son's resisting a little now too as he was humiliated and will shy away from repeating that experience on the basis of some dotty idea his Mam has.
Many thanks for the help.