New and Would Love Advice

[Tamsin]

Hello All,

I am new here and have never posted on a medical forum. I found this forum through some internet searching and am hoping, after many, many years of being unable to find the right doctors, that I can get steered in the right direction…

I’ll try to keep this intro as brief as possible. 🙂

I am female, in my forties. My belief at this point is that I have Ehlers Danlos and Chiari, but am not sure.

I have had headaches most of my life with different diagnoses. At one point, in high school, a neurologist said something to the effect of having too much fluid in my head and put me on a diuretic. It seemed to help some, I think, but when it was discontinued, everything came back. Over the years, brain MRI’s have noted excess pressures, csf on optic nerve, proptosis, etc, with everyone telling me I’m fine. But, I’m not. Over the years, my eyesight has been going downhill. My vision is blurry, I have a convergence disorder, etc.

I also noticed in recent years that laying down flat helped me feel better. For awhilie, if I was able to get down for the latter half of the day, I was okay, but not anymore.

I can already see this is going to get long, so I’ll just list some things I’ve dealt with rather than making a narrative:

I was born with what they called a stage one club foot and wore corrective shoes, no surgery.
I have scoliosis, found initially on a junior high sports xray.
I had a spina biffida occulta. I think it was at a lumbar location where I’ve now had back surgery, a fusion.
I have degenerative disc syndrome in my neck throughout and I think it’s in my lumbar region too. My father had it but he died at 34 (accident, not illness) so I’m not sure how his would have progressed, although I know he was in a lot of pain prior. This seems to be from his mother’s family as she had joint problems and my dad’s sister has them as well.

Some things I’ve been dealing with, I am unsure if they are all related, so I’ll just add them in: awhile back, after finding out that I was deficient in some things like estradiol, vitamin b12, folate, vitamin d, I asked my doctor to send me to an endocrinologist. He also did some more testing and I failed a growth hormone test which caused him to mri my pituitary. He found what he believed to be a microadenoma, which he thought was the cause of the dificiences.

Prior to this, a neurologist believed I might have myssthenia gravis, due to my eye symptoms, which includes painful drooping eyes and muscle fatigue. He prescribed mestinon which, even if I don’t have myasthenia gravis, which several doctors think I don’t, seems to help keep the crushing headaches less debilitating/painful.

About my joints: all my life, I have had weak ankles that were thin and would get stiff and crack/pop by bending my knees. My fingers are the same way. I used to play the flute in elementary school and the tips of my fingers would bend over and lock. My knees bend backwards, just like my dad’s did. In adulthood, I started having troubles with my writst and shoulders. I have been to much physical therapy, which I finally gave up on because while the therapy helped at the time, it was never a permanent fix and some therapists would blame me and say I must not be doing my strengthening exercises. My wrists can pop out carrying bags of groceries and my shoulders can pop out just clasping my bra. But, it is never so exaggerated as bones sticking out, but I can feel it. Then, it’s a matter of painful time before it goes back. I’m afraid to do anything. I started developing knee issues about five years ago. It felt like my knees were separating. They did an MRI on one and said there was some possible arthritis and spurs and other stuff, but that’s it. Now, looking at a symptom of Osgood schlatters online, it looks/sounds like my knees. Here’s a picture, not sure why it’s upside down.

A couple years ago, I went to a cardiologist because I thought I was having heart related symptoms. He did an echocardiogram, which showed a strong heart, but he was concerned because my resting pulse was around 120 and stayed that way for several hours. He said that he could tell I had been ill awhile and was used to hiding it from everyone since I was able to appear calm and talk to him while that was happening. Once he laid me back down for an EKG, my pulse went down.

Some other things: my BP goes up and down. Sometimes it’s low, sometimes it’s borderline HBP. My memory problems are increasing and now I often feel drunklike, disoriented not only visually but cognitively. I don’t have the energy to do much. A couple years ago, they did a lumbar puncture and had trouble getting a reading at all, so they discounted the idea of excess intercranial pressures. They did another one a couple months back and again had trouble getting a reading. The tech said he wasn’t going to take samples because I didn’t have enough pressure to do so, that he’d be there all day.

I saw a reputable neurologist awhile back under the possibility of a csf leak, but he said, in looking at my cervical mri, that I had a Chiari. He looked at several angles and stated so definitively, but said that all my symptoms couldn’t be related to that, that it would only be valsalva maneuvers causing problems. So, he sent me for the lumbar puncture {I forget what you call it, but it looks for a csf leak in your head over two days.} That test was unsuccessful, no sign of a leak, and at my follow up appointment, he looked at an older brain mri and decided I didn’t have a Chiari after all.

I am out of ideas for getting to the right person. After researching my symptons online for many years {a doctor’s nightmare in a patient, I’m sure} everything seemed to lead to a Chiari but my PCP said it “doesn’t happen.” He has been very dismissive, but I was buoyed by the neurologist telling me he’d found one, only to take it back.

I’m out of characters, I’ll have to finish later.

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[Tamsin]

I knew I was forgetting some things. I’ll probably still forget some things this time. 🙂

I’m attaching a picture of my right hand, palm down. I’ve had surgery on my right arm and hand- ulnar nerve, carpal tunnel and tendon over thumb.

The roof of my mouth is very narrow. I had eight teeth removed as a preteen due to overcrowding and then braces. The roof of my mouth is so narrow that food can get trapped up there and it is difficult to get out.

I have what appears to be atrophic scarring but it is confusing because I also have keyloids.

My arm span is about equal to my height. My big toes separate at the joint and can roll under my foot. I sit indian style out of comfort even in my work chair and didn’t think much of it but people ask me how I can do that.

I am often nauseated. At first I related it to my blurry vision but I know that sometimes its caused by severe head pain. Lately, though, I am vomiting more than usual.

I’ve had troubles with gastrointestinal issues even after my gallbladder was removed. It was just a dud and didn’t work, no stones.

I used to get bronchitis every winter that was attributed to post nasal drip. I had a deviated septum fixed but it is moving back to where it was before.

That’s all I can think of for now possibly related to a connective tissue disorder. I have a month or so off work and would like the possibility of getting a diagnosis in that time. I have spent so much money and time waiting on doctor appointments only to be disappointed that they didn’t know what was wrong with me, all the while I was getting worse. I want to make sure I go to someone who can diagnose. If so, I wouldn’t mind traveling a bit. I live in northern California. Any tips would be appreciated.

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