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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  • your sx are a syndrome...it's autoimmune caused by a virus...go to www.ahummingbirdsguide.com all your sx are there and then some. I have several members of family and in laws with mild forms...it's contagious and can happen in outbreaks...60 in US since 1934 good luck...mommy cat
    mommy cat 1654 Replies Flag this Response
  • Thanks for the link...I may now have that on top of what I had originally - but honestly, I don't think that's it for all of us for 4 generations if not more. It just isn't a fit. It waxs familial but others in the same area didn't have those symptoms, which you would expect in an epidemic. Most of the confounding factors I have now were added later in life - I am a nurse, I lived in an area with high levels of industrial and radioactive pollutants growing up; I was overexposed to radium implants by 2 panicked patients undergoing cervical cancer treatment who would have injured themselves during my career taking care of hospital inpatients in 2 different geographic areas 15 years apart - they just really didn't "get" that they'd be totally alone in a room for 48 hours except for 5 min. an hour and they would have injured themselves so it wasn't right to leave but I know it damaged me further. Then my military spouse and I were stationed overseas including in Europe when Chernobyl blew up and Mad Cow was rampant and in the tropics awhile before that, where there are a lot of diseases that haven't been fully documented. My immune system sucked before I got there, so I imagine I did catch something because gradually I started getting symptoms of what they thought was lupus in the joints. When it didn't progress they decided it was fibromyalgia. The add on symptoms do fit the ME, and so does the exposure pattern, but the baseline symptoms don't quite. I do have CFS but it was induced by a severe medication reaction, and it is largely controlled by the ADHD except in warmer weather. So the baseline is primarily the very weak legs and it seems to be congenital and have varying degrees but it is in all of us that I have been able to research in the family since the original post. And the bad growing pains and leg cramps. The clumsiness is probably due to the weakness and is only partly improved with exercise even when you are young, and soon exercise does more harm than good if anything else complicates it. Leg cramps and non-diabetic (idiopathic) peripheral neuropathy in the late 2nd - early 4th decade of life are the only other hallmark symptom in uncomplicated states. Along with that is the congenital thyroid problem that has expressed in just about everyone at some point, some marginally and some more severely. And the headaches, misdiagnosed I am sure as just tension or sinus in many of my family members - since most of my family smoked, the smoking would have masked the nature of the migraines to some extent and they always got worse headaches after they quit smoking. The last is weak eyes, with loss of sigh and photophobia and with surgical interventions for cataracts not being much if any help - my neurologist saw me 2 days ago during an acute attack of this blurring and said that you can get a migraine in the eyes without head pain. Acupuncture helped some. Mental acuity decline, mentioned as a hallmark symptom of ME, only happened to people in my family with the baseline symptoms temporarily with increased pain or weakness, and clears readily with any improvement. I am pretty sure the fertility, as widely variable as it is, is probably an incidental finding, although I would say there is a higher proportion of infertile females in my family. But I also wonder how much the industrial and higher radioactive background pollutants might have contributed to that. So as far as figuring out where the extra stuff came from, with the travel history, ME is not necessarily a rule out currently - but it also doesn't seem to fit the original group of symptoms. I guess I want 2 answers, what made the originals so much worse for me, and what caused the 4 generations of baseline symptoms. I have one now - I am pretty sure that ME is a distinct possibility for me and my spouse and that we probably contracted it overseas as both of us have symptoms no one in either family has. I mean, there are people in their 60s and 70s and older who are in better shape than we are! Of course we get this "too fat" stuff but it's interesting since everyone who's telling us we'd be OK if we weren't fat is also fat. In my family, though, there isn't much if any weight loss with dieting after about 6 months and after a while we give up and it comes back and brings "friends" - you just get so tired of trying to lose and the loss stops and people accuse you of cheating so eventually, you just eat what you want since dieting no longer does anything. It's just that pattern has to be related to the original major hallmarks somehow.Thanks for the link since it helps explain the things my DH and I have that are similar despite widely disparate backgrounds, and the much too early failure of health. It bears looking into, but for a while, I do want to find out what the original was before everyone makes the opposite mistake of blaming everything on ME when I don't think it's the cause of that part.Question then still stands:Weak legs, give out easily, leg cramps lifelong, severe growing pains, early idiopathic peripheral neuropathy, progressive weakness with age but accelerated, clumsinessMigraines, often misdiagnosed, and often atypical, throughout life in men and women equally in the family (right there, that's weird)Poor eyesight, cataract surgery failure, blurred vision with eyes that seem to "lock" at a certain range even when you are doing all the right stuff to prevent it, eventual vision loss to legal blindness with glasses, photophobia (I am getting early cataracts and at my age it s NOT typical)Thyroid problems of varying severity but all hypothyroid, treatment with mild amounts of hormone is overdoing it in some but with large amounts is not enough in others (I am on 125 mcg of synthroid a day and it isn't helping much)Weight problems with early shutdown of metabolism even with plans calling for 6 small meals a day, rigid adherence to the diet, exercise, and even with severe caloric restriction (I stopped losing weight and once tried going as far down as 500 cal a day with minimal weight loss; I moved to fasting every other day when the loss stopped and only lost about 10 more lb; and during this time I moved exercise up from an hour 3 - 4 times a week until I was doing 2 - 3 hours a day 7 days a week including strength training with no results - the clothes didn't even get much looser - and trust me, this really was hard with the legs so weak). Thyroid correction does NOT change this pattern and again, that's weird.ADHD or ADD seems to run in everyone in the family along with moderate to severe sleep pattern and circadian rhythm disturbances, worsening in old age.Anyone else have any other insights? I really appreciate this one as it explains add on issues later in life but I need to get to the core problem.THANKS!
    nerdse 3 Replies Flag this Response
  • honey, all of your sx are ME sx...I'm being tested for it right now...please believe me your sx are ME...all of them Even though your family doesn't have same or as many sx doesn't mean they don't have it...perhaps they don't ...I've contacted the CDC and my local health dept this am...the epidemiologist is looking into it as we speak...please reconsider...mommy cat
    mommy cat 1654 Replies Flag this Response
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