This is a long one, so get a drink and settle in if you are here for the whole thing.
This is me from head to toe:
- Legally Blind in my right eye
- Legally Deaf (also culturally), wearing two aids (left side typical style Behind-the-Ear, right side Bone anchored)
- Micro-tresia of the right ear - My pinnae has been surgically shaped. Originally to accomodate a hearing aid mould, now I could have it properly shaped to match the left, but chose not to undergo that elective surgery as I feel it's pointless.
- Natural bone fusion in my neck (C4/5 vertebrae)
- Torticollis (my head lists to the left, also with a twist of my chin to the right, partly to compensate for hearing/vision)
- Scoliosis - Double curve (Called an S-curve), fused completely with 14 hooks, 4 screws and 2 rods. Further fusion is currently happening and hella painful.
- Missing my right kidney - never had it
- Turner's Syndrome resulting in non existent uterus, blind vagina and undescending gonads (testes or ovaries, I don't know, though they *say* I have fallopian tubes...?)
- Hypertonic Muscles - parents have told me they used to have to wrestle my limbs out of the fetal position in order to change my baby butt
In the end I was diagnosed with having Klippel-Fiel Syndrome as well as Turner's. Basically an umbrella term, since it's aset of symptoms that have to be dealt with on a near individual basis
With the hypertonia I have known for a while that it wreaks havoc in several ways:
Weight loss can get dangerously fast if I'm not able to eat properly. I know this because I have had what is called an Ileus - basically a system shutdown from major body shock - resulting from my scoliosis surgery to correct my spine (they did their best, but I still have curves, they are just fused now), as well as more recently my medications cause bowel issues and fuel a lack of appetite. In both cases "nothing in, nothing out", and I lose weight like crazy (I have been as low as 90 lbs, which for 5'2" is damned low)
Medications in their normal dosages don't really do much for me. Regular tylenol doesn't even touch me most of the time, and I max out the max dose of Tylenol 3 (with 20 mg codiene) without achieving a sufficient amount of pain relief. I have had to take triple the dose of melatonin to get any effect (it was a non-working day following, and melatonin is not a dangerous sleep agent with occasional use. I only tried this ONCE then stopped bothering with it because of the ridiculous dose I would need.)
Things like dental numbing agents that are labeled "short acting" become "TOO short acting" for me. My dentist had to stick me 5 times with the numbing agent in a one hour appointment...
Activities that I do use a great deal more energy in my system than they do in a comparratively sized person without this condition. I have gone for physio/kinesiology appointments in the pool for a half-hour of gentle exercise (no weights, nothing pushing my range of motion, no actual "swimming" involved) and come home needing a nap ranging from 2 to 6 hours. (the longer I'm doing exercise, up to an hour, = longer "nap")
I get muscle cramps for no apparent reason and low potassium intake has been ruled out. I get them when I'm eating well and have normal nutrition intake as much as from poor nutrition.
Medical professionals have confirmed my self-diagnosis that my muscles exacerbate my pain issues by pulling on the joints harder than the average.
It also plays on my pain scale. On a scale of 1-10 (1 being little to no pain, 10 being pass out worthy) a broken toe is a two, while my currently fusing vertebrae ranges from a 4 to a 7 and occasionally higher, currently medicated I exist at a 4 or 5 usually. Rough days are a 6. (I'm on a cocktail of morphine, muscle relaxants, medical marijuana, anti-depressants, and tylenol with codeine.) I don't LIKE being on heavy meds, but it's currently unavoidable.
My GP finally admitted to me verbally that he's a "simple GP", that my case is complex and I am outside his range of experience. I'm not keen on changing doctors for the same reason. My case is complex amd I don't want to have to break in a new one!
Plus, I'm adding FTM trans issues to the whole lot. I saw the endocrinologist, who is requisitioning ultrasound, mri, blood tests - the works.
Now that I've bared my medical soul to you....
How do I get my doc to understand how interrelated some of these issues CAN be? (particularly the effects of medication on MY system... or their lack of effect rather). Should I get a new doc who is more open to the complexities? Is there anything you can recommend or offer as advice for helping me manage any/some/all of my issues?
Feeling bloody frustrated right now...
