Discussions By Condition: I cannot get a diagnosis.

I am sure this has to be a congenital familial syndrome but no one will listen

Posted In: I cannot get a diagnosis. 3 Replies
  • Posted By: nerdse
  • April 18, 2007
  • 03:48 AM

Hi, what I am wondering, has anyone out there ever seen a set of symptoms like this and gotten any leads, this is the 4th generation with my child showing these symptoms, that we know of:
Legs are weak but there is no delay with start of walking, it is just like they kind of "run out of gas" - they just stop working :eek: - as we age, they give out from under us for no reason. When we try to run it doesn't work too well, the legs give out before the lungs and we walk faster than we run and sometimes it HURTS to walk other times no pain or very little
Frequent leg cramps esp at night and esp after activity even if we have been doing it forever; severe "growing pains" during growth spurts in childhood
If we try to do an exercise program we are on board with everything except exercises of the legs and things that require balance - we are world class klutzes :D
There is a co-history of low thyroid but treating it doesn't help
It looks like ADHD runs in the family (but at a certain point when the body can't keep up the aging folks try to run the younger ones to death even if they are suffering from syndromes themselves!)
Migraines of various type appear in different members with no real pattern; in the females it is not always related to the menses and the males are as likely to have as the females but it is misdiagnosed as sinus when it is not
Photophobia, or hypersensitivity to light, in about half of us regardless of eye color with no correlation to anything but the universal leg problems (if there's a migraine attack it becomes unbearable) - some but not all of us are able to see very well in the dark
No lower back problems to speak of unless there is a definite stressor, same with upper back, and no back abnormalities at all
Arthritis is almost always secondary to trauma, not really specific to age or weight, and trauma is caused by clumsiness, multiple falls that are never outgrown, many sprains, knees hurt and scraped up and bruised all through life; otherwise, you have to be older before any sign of it shows up and it's minimal
We're all fat but only one person showed up with type 2 diabetes and that is because of a spread of tumors to the pancreas, the other is type 1 juvenile diabetic first one either side of all sides of the family (and if you want to irk the snot out of a doctor, be a fat person who doesn't have diabetes symptoms - they almost have a stroke trying to make you a diabetic when you're not one :cool:)
Eyes tend to be weak; multiple symptoms and causes with varying ages of onset and the only pattern seems to be in old age sight is lost til it's minimal but the eyes except one person are normal except the odd person with cataracts; cataract surgery fails to correct refractive errors
Peripheral neuropathy (numbness and tingling, sometimes with itching and/or burning with no infections or fungus stuff, starting in the feet and legs) occurs without any sign of diabetes anywhere and of course worsens clumsiness; and eventually spreads to the hands
About half the women are infertile and the other half are the types where 3 types of birth control might still fail even if used all at once
Most of the women show up with fibroids I am the only one who showed up with ovarian cysts which started when they tried clomid to get me pregnant (it didn't work), so I imagine that's it with me since I am the only oneI keep saying this has to be a syndrome, the rheumatologist agrees but has no idea what so sent me to a neurologist who said since I also have chronic fatigue, ADHD, and fibromyalgia there are too many confounding factors, that he has seen similar patterns but he knows of no syndromes out there, and his solution was try acupuncture. I did; it did give me a tad more stamina but no real pain reduction, no change in eyesight or ability to sleep, etc.

They did a head MRI and there was something called "empty sella" which I looked up, and I don't have high blood pressure all the time (it varies widely from 90/60 to 165/100 under identical circumstances with no confounding factors), mostly it is normal range. Some but not all of the symptoms fit for the empty sella syndrome. Back MRI is normal, neck MRI shows a bulging disk but believe it or not it doesn't hurt. Everything ELSE does though!

I have a friend who was diagnosed with chiari which I looked up, again partial match but not complete.

So, anyone else have this mix of weakish legs that give out or quit wanting to move, klutzy-ness, bad vision, low thyroid, severe leg cramps and growing pains when you're a kid, migraines of various sorts, no real blood pressure problems, and fat (I swear that all these skinny people are releasing fat cells into the air and they are all homing in on me:p; on 1200 cal a day I am staying the same to having creep up of weight!).

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