No 'joy' but no sorrow, either

So, Mr B is an okapi. A healthy, sturdy, okapi. Looks kinda like a horse, kinda like a zebra. That's in reference to the medical training statement that when you hear hoofbeats, think horses, not zebras. The problem is usually pedestrian, not exotic.

In our case, the problem is neither pedestrian nor the usual range of exotic, looks unlike what they expect, but is also not dangerous.

No joy, because there's no diagnosis other than 'there's something amiss with his collagen'. It's not amiss enough, or in the right ways, to qualify for the full diagnosis. It isn't a syndrome or a disorder, it is just not right.

Uh, thanks.

On the plus side, while it is busted somehow, and it isn't something they have a name or category for, it is also not life threatening. And not problematic for his life in general, provided he starts physical therapy and continues it in a continuous, ongoing manner for the rest of his life.

Er.

No diagnosis, but do go start PT right away, please. And don't stop. Ever.

Thanks?

I will give the doc credit that she answered the fundamental problem I wanted answered - what do I do from here to keep this from being a problem for him? Answer: PT, ad infinitum.

And I'll give her credit for giving me the detail of where she saw definite issues, and where she did not, and what that meant for his choices, and how that might change over time. Unusually complete information, on the high end of what I've had from doctors.

He does have hypermobility in two joint sets - his hips, and the last digit of his fingers. The final digit of his fingers being loose is likely the cause of his difficulty with grip strength and his hands getting tired easily. He has to work extra hard to hang on - there's no holding on with the tips of his fingers, they're floppy. His pelvis is not straight, is is more turned inward, which has resulted in the rotation of his legs inward, which then caused pain, aches, nerve reactions, and explains the lower leg pain he had as a child, too. That, she said, he'll develop out of on his own, though the degree of hip range of motion may remain (he can rotate his entire leg quite far).

Beyond that, the bruising - it's definitely present, it will vary just as I've noticed it vary (that's normal for the collagen issue), and it shouldn't be there. That degree of bruising is normally only present if there's a vascular collagen issue, and that's a dire diagnosis, as far as these disorders go. No family history, and not one of the other signs of vascular EDS. Huh.

Darn okapis.

The motility issue is typical, though we haven't formally tested his GI motility. The chronic functional bowel problems are typical, as well. The growth failure would only be typical with the vascular type, and it would have been from birth.

Er, again.

The doctor talked about the range of normal, and the range of abnormal, and said that just like me, he's on the gray zone. Just a different manner of being on the gray zone than I am. If I wasn't on the gray zone, they might diagnose differently, but maybe not even then.

Whee.

But for the no sorrow part - he doesn't have any restrictions of activity. He can learn to jump on horseback if he wants, because his joints are sufficiently stable that he isn't at increased risk from falls (just the usual potentially catastrophic risks of falls). Gleep. But still, it becomes more his choice again. No limitations at school - he can do stretching exercises with the rest of the kids, no additional risks provided he's also doing the PT to maintain strength and develop the weak zones (which would be the hips and fingertips, still).

They also said that while Miss R sounds like a more severe, joint-oriented case, she's probably still not out of the gray zone - take her for PT, too, and let the PT decide if she's enough off the scale to merit a trip to the clinic. Since I'd originally tried to get to a PT for the general hypermobility in the first place (and the local children's hospital PT department said they'd lost a lot of staff and didn't handle connective tissue disorders anymore), that's looping back to my original plan anyway. I got a nod of approval off that one - I'd taken the right route, and it had dead-ended, so ended up at the more significant assessment as the next option, and now I'm directed back to where I started, but by a different route with better guidance.

No joy, but I'm glad there's absolutely no sorrow in there, too. It's frustrating to be in the gray zone all the time, to have the puzzled looks and hmming from the doctor, to have my kids land outside categories. But, it's also nice to have a highly experienced professional say that there are no other issues I need to look for, here's your direction, carry on. She's writing up the notes with specific mention of the problem in the collagen - yes, she repeated, there IS a problem with his collagen - so that I have medical backup on that side of the statements, and can get the PT through insurance. Carry on, and I'll help you succeed at carrying on.

So, we're carrying on.

Comments

[Tranq]

Argh.
Well, you've got proof you're not crazy, and even if you don't have certainty, you at least have positive steps forward.

Frustrating, Sis. Keep on keeping on.

[Cathy]

Sorry that you did not get as much closure and definiteness as you would have liked. Excellent though, that you have more than you did going in.

[Lisa F.]

glad to read your update & that nothing really scary going on. those in between "diagnoses" are soooo frustrating. glad doc was so supportive & validating though.