I have a variety of physical disabilities and chronic illnesses.
I have had a thorough workup and have seen world-renowned experts in the fields of Neurology and Rheumatology. Several diseases/syndromes have specifically been ruled out including Sjogren’s Myelopathy, Devic’s Disease, and Myasthenia Gravis. I do not meet the diagnostic criteria for Multiple Sclerosis but have been told by a couple of doctors that they believe I may ultimately have an MS diagnosis in the future.
At this point, nearly January 2012, it is my understanding that I will either never gain any more information about the cause of my myelopathy OR I will have to get worse before I show signs that will fit diagnostic criteria.
Leg impairment: left leg tightness/spasm; loss of sensation; and numbness. This varies in severity and has been identified as having transient neurological features. Impact on my life: I walk with a limp that gets worse with use. For example, if I go shopping in the morning, by the afternoon I am limping more severely – sometimes to the point that I feel as though I am not capable of walking at all. Chronic Pain: Moderate to Severe pain. Cause: Myelopathy (spinal cord disease) of unknown cause.
Left Lower Extremity impairment: Impaired ankle dorsiflexion also called a “Foot drop” – upon examination, I have an upper-motor neuron pattern of weakness / a pyramidal pattern of weakness, (a left monoparesis). Impact on my life: My left foot drags on the ground. I can not move my toes up or down, have a loss of sensation, frequently can not move my ankle. I limp, have trouble getting my foot in shoes since it does not move. I have an AFO brace that I do not wear often because it negatively impacts my other leg impairment symptoms and often causes more pain than help. Cause: Myelopathy (spinal cord disease) of unknown cause.
Hyperreflexia: abnormally brisk reflexes in all deep tendon reflexes of my extremities. Impact on my life: Unsure. Cause: Myelopathy (spinal cord disease) of unknown cause.
Arm impairment: Right arm muscle tightness and mild weakness. May be impacted by spasm of the Trapezius and Sternocleidomastoid muscles. Impact on my life: Limited use of my right arm and hand which is my dominant arm/hand. Includes difficulty lifting arm, tightening of grip. I often need help carrying items, lifting items, getting dressed and other daily activities. Cause: Unknown at this time
Symptom: Livedo Reticularis: also called mottling of the skin. Diffuse livedo that is visible when right hand and left foot/ankle are in pain and limited.
Chronic conditions:
Chronic Pain: a condition of persistent pain that impacts a person’s ability to complete daily activities. My chronic pain is in my feet, ankle, leg, neck, hands, shoulders.
Otosclerosis: disease that causes degenerative hearing loss. Presently moderately deaf and wearing bilateral hearing aids.
Moderate Asthma
Migraine: triggered by light and jaw clenching and teeth grinding
Bruxism: with both clenching and grinding of the teeth
Hypothyroidism – with a benign multinodular goiter (thyroid growth/tumor)
Vitamin B-12 deficiency – possibly Pernicious Anemia, treated with monthly injections
Severe GERD and other gastro issues
Eye Pain (left side only) with inadequate tear film protection of the cornea (a.k.a. Keratoconjunctivits sicca) also redness and frequent infection of unknown cause.
Skin rashes with dry and scaly patches presumed to be Psoriasis based on family history
Linked descriptions of these illnesses are from the National Institutes of Health including their service Medline.
Hi, I stumbled on your blog as I was doing some research on my daughter’s condition. Have you ever been tested for Charcot Marie Tooth. Your leg weakness and tightness could be from that.
Hi Amy,
I don’t recall being specifically tested for Charcot-Marie-Tooth. How is your daughter doing? Was she diagnosed by a neurologist? Best wishes to you and your family.
your situation mirrors my own in so many ways, it scares me.
God bless.
Thank you for reading and writing. If you’d like some support from someone who knows what you’re going through, I can be reached at sickysickerson@gmail.com
Have you ever had any genetic testing done? I’ve had multiple symptoms for years – rheumatologists said I needed neurologists, neurologists said I needed rheumatologists, everyone ordered ANA panels and shrugged when they came back negative.
I had to fight like heck to get an EMG, which was then abnormal.
My muscle biopsy was nonspecific, which my neurologist interpreted as “okay.”
Genetic testing showed an SCN4A mutation. I’ve now been diagnosed with the sodium-channel form of myotonia congenita.
After 13 years.
And even though I’ve evidently had this since birth, my symptoms weren’t odd enough for me to notice anything amiss until my twenties. And no one in my family has ever had the same symptoms, though now I wonder about little things. A person can, however, be the first in a line to mutate.
Best of luck with everything.
Oh, geez. Sorry to post again so soon, but I’ve been reading through your past posts, and just had to let you know the right arms stuff sounds so familiar to me. I used to work overtime – now I work about 3 hours a week because using a mouse is so painful. Every kind of pain imaginable is in my right arm; it’s like the PAM has made a monster of it.
The first issue overall for me has always been excruciating muscle tightness. It gets worse the more I do, never seems to recover to a baseline.
Fortunately, with the diagnosis I now have access to the right drugs. The one I’m on hasn’t kicked in yet, but it’s supposed to be a miracle drug. Fingers crossed!
Wow! Thanks so much for sharing your story here and on your blog. I am so sorry you have been through such a rough time. So glad you are on your way forward and you are spreading hope to the rest of us, whether you realize or it or not!
Thank you! Thank you!
I came across your site trying to find an afo retailer since my left foot has been dropping. This is the fourth time my foot has dropped. My right twice full drop twice with limited recovery, twice now on left. I had went 20 years with a big ? on what was wrong. My father(who must have great ins.) had genetic testing for some nuero problems. And They found he had Charcot-MarieTooth. Knowing what was wrong made a world of difference. Alot of your symtoms mimic mine.I wish I could write more, But its late and it has gotten more pain full typing.
I was searching other blogs for ‘foot-drop’, which led me to yours. I have very similar roblems, intermittent foot drop, sciatica, sensation loss, shoulder/neck, arm problems. hearing loss and vertigo. After years of being thought to be faking illness, i have now been diagnosed with HNPP (hereditary neuropathy with pressure palsies) which is caused by a deletion of genes which are duplicated in CMT1a… I had a genetic test (after nerve conduction tests) when my son started to get the same problems.
As someone else has said, knowing what the problem is caused by is half the battle.
I really appreciate this info and hope it can help me get answers! Thank you!
Hi, I’ve had similar symptoms, also undiagnosed. I have seen different specialist too and been told I have encephalopathy but not why. They rulled out MS, sjogrens, diabeties, RA, Lupus, kidney disease, coeliac disease and porphyria of which complications could have caused neuro problems. Currently they are looking at Inflamatory bowel disease, Lymphoma, hyperparathyroidism and severe allergy, they have also suggested viral encephalitis could have been the cause. I hope this is some help.
Over 50% of diseases referred to NIH’s new Undiagnosed Diseases Division are neurological. Out of 1,200 cases reviewed, 300 accepted to be investigated, 39 have been “solved”. http://lat.ms/qXkD4A.
While it’s not likely that finding a “label” will solve most of the mysteries, its important to keep in mind that the point of having a diagnosis is to find a meaningful strategy for treatment, that doesn’t solely include immunosuppression and pain relief. New approaches need to be catalyzed, ones that integrate all medical wisdom — the best of the Western molecular model and the best of more traditional medical traditions. These are at their best looking into patterns of symptoms and a “whole-systems” approach. When dealing with serious illness, a deeply integrated approach has the best chance to reset the “system” — whatever the initial trigger was.
Q your problems listed above are all identical to mine with exception of hearing loss…except according to my husband…lol..but I have not had the tested either…I can’t even get my neurologist to treat me with steroids because I don’t have a firm diagnosis for sjogren’s or other autoimmune disease and can’t find a rheumatologist who will listen…they just say well your ANA is negative…ugh..there is a Sjogren’s expert named Robert Fox MD in La Jolla, CA in case anyone wants to check out his site…he posted all his papers there…I need to come back later and chat with you as I think we can both shed some light on each other’s illness…with a diagnosis of myelopathy symptoms but no cause I am very frustrated too as my legs get worse and even neurontin isn’t enough for the nerve pain…hang in there and keep your positive attitude…will be back later to chat…christina
Thanks for stopping by, Christina, Thinking of you and wishing you the best! -Q
Hi..Came across your blog..Had a quick read..Loads of similarities with me..Muscle weakness and the eye thing too. Had an open muscle biopsy today(Ouch!). I’ve been told I may have Inclusion body myositis(type of MS). Have a look around for info. Apparently foot drop is an associated symptom of (IBM). I’m 45 I walk like an old man, can’t do stairs,fall over loads and get angry and feel sorry for myself,have gone from being fit and active to the way I am now in the space of 4 to 5 years with no real positive diagnosis. I know it’s progressive and probably irreversible. Vastus Medialus really bad in both legs and hands are going now. I’m a guitar player so the hand thing is getting me down.
I find that going out getting drunk, watching bands, having a laugh and not giving a toss really helps sometimes. Get in there while you can I say. I’ve still got my brain, my opinions, my loves, my family, my dreams and in my opinion, my incredibly handsome and boyishly good looks..(any personal opinions expressed could be over exaggerated).
If I go out and act like I’m having a good time at some point I start having a good time..likewise the more positive I act towards people about my condition the more positive I start to feel..(still have bad days though). I’m looking round now for cool walking sticks, I don’t want a medical looking one, a posh cane and looking good is my new mission..
Do whatever you can to stay positive, act like a nutter, sing your heart out, learn some dirty jokes, do fun stuff, do what you want..
I nearly lost my wife and kids through being negative, they just got fed up with me being angry all the time..
Good luck to you Queenie..stay strong, I know it’s hard but you’ll do it.
Ivan.