#diagnosis Is anyone else at all mystified by certain parts of the 2017 hEDS dx criteria? The reason I ask is that, although hypermobility runs in my family, mother's father's side, I'm concerned that my 27-year-old son has it but won't fulfill the criteria. I'm 58 and was just diagnosed in August 2022. I may not have been diagnosed at his age, because the chronic pain became intense and chronic in my 40s. I think the only place that I might not be hypermobile on the scoring scale is my elbows (or else it is so slight that I can't tell whether it is a yes or a no). I'm hypermobile everywhere else on the scale, didn't crawl, sat in W position as a child, was born with crossed eyes, etc., etc. I definitely have it. My son's knees sway back further than mine do. His fingertips bend far back, like mine do. But he denies thumb touching forearm and ability to place palms on floor without bending knees. I don't know about his elbows. He's had repeated hernias, flat feet, TMJ disorder (popping and pain), slow-healing tendonitis, very slow healing of corneal laceration, and shoulder pain that he resolved via strength training and sleeping on his back rather than side. He also has always had anxiety, ADHD, and migraine with aura. He might have POTS, since he is dizzy on standing and has fainted once from same. But all that evidence is not part of the dx criteria. My mother's pattern is more like my son's than like mine, but at her age of 83, she now passes the criteria for dx, though she would not have passed at a younger age. She's had 4 complete dislocations (as a child). Her father was "double-jointed," and her bother, his son, and his son's daughter are. The latter girl, now 16, regularly sits in W position, and I cannot get her parents to take this seriously. Does anyone relate to what I'm struggling with here? If this is an autosomal dominant genetic disorder, then how does it make any clinical sense for someone to be positive for it at one age, but not at another age? Also, my son and mother do not bruise easily as I do. I believe that little boys are less likely to show off W sitting or other "tricks" as girls are likely to do, so that is another gender-inflected diagnostic criterion, in my view. Unfortunately, my son cannot see the doctor who diagnosed me, but only the primary care doctor we share, who missed the cause of my pain for 3 years. I'm concerned that he has hEDS but won't be diagnosed correctly because of how specific and age- and sex-dependent some of the criteria seem to be. Thoughts? Experience with this issue? I've been wondering whether it is possible/probable that my son has some other reason than my family's hEDS for having so many hEDS signs and symptoms? I know we cannot give medical advice. so I'm mainly wondering whether anyone knows whether the literature has addressed this issue in any way, or whether anyone had been through this experience.
Posted by Jenny at 2023-02-02 21:05:35 UTC