Trying to write brief history but not succeeding. My apologies in advance. And advice or insights much appreciated.
2.5 years ago when 18, daughter, with history of seizures but unmedicated since 16, began complaining of leg weakness. Ped referred to orthopedist, who said bilateral, couldn't be anything wrong. Then came bilateral knee pain, followed by leg pain. Orthopedist continued to say nothing. After a year, she had lower back pain. Again said can't be anything but referred her to physical therapy. Therapist noted tight outer thigh muscles, causing knees to bend in and pigeon toed walk. Difficulty getting up stairs and walking very tiring. Told orthopedist therapist recommended TENS machine. He said she didn't need one so he wouldn't write prescription.
Last May a sinus infection, accompanied by nausea and vomiting. (This persists to this day, GI investigation negative but she takes Zofran 3 times a day.) Found to have very mild pneumonia and put on Z pack. That week back pain became very strong and walking difficult. Ended up at ER with 105 fever and found to have necrotizing double pneumonia. Hospitalized for six days. Hospital brought in neurologist owing to waling difficulties; found reflexes to be brisk--subtle enough for med students with him to miss. Ordered spinal MRI and said was normal. Attending physician said perhaps somataform disorder. (She has anxiety and had an attack while in hospital.)
Took her to rehabilitation specialist--disdainful of somatoform dx as he said he felt spasming in back. Personally looked at MRI and found septations at T3/T4 to T7. Called the hospital and made them change the report and told us to go to neurosurgeon. Got there in August. By this time, very hyperreflexive and the neurosurgeon said she was spastic. Negative on Babinski reflex. Didn't look at MRI but said formation in thoracic spine had nothing to do with it--she had MS, vitamin B12 deficiency, lyme or some other infection. Told us to go to neurologist and gave her baclofen--helped enormously with walking, but pain persisted. Had brain MRI--was fine except for two arterial malformations (telangiectasia and DVM--neither dangerous, latter possibly connected to seizures). In October got spinal tap--tested for all kinds of infections, but they ran out of fluid and didn't do olligoclonal bands or the other test (I think Igg?) for MS. What they did test for was fine. Neurologist also ordered tests for genetic disorders like familial spastic paraplegia--all negative--and decided might be autoimmune (PANDAS--she's an expert in this). Got IVIG in November.
Did okay for a couple of months. Stopped taking Baclophen in early January when prescription ran out. PCP around that time suggested she see neurologist who is known MS expert. Earliest appointment was in July. Around April complaints about leg pain began again but we waited for neuro appointment. First of July UTI with high fever and flank pain--infection going up to kidney. Hospitalized for two days. See neuro ten days later. Doesn't mention MS but looks at MRI and speculates she may have spinal fistula in thoracic spine. Tells her to come back but next appointment in February.
In meantime, great worsening of leg and back pain, I think because of UTI--always much worse after illness with high fever; often has to walk with a cane. I take her to pain management doctor to get prescription for physical therapy and TENS machine. Last week therapist saw her and was alarmed. Her spasticity is like what he sees in MS patients and he felt MS needed to be excluded as soon as possible and that it was imperative she get back on Baclofen so he could work better with her. He consulted with a pediatric neurologist he knows who said she should get workup as soon as possible, going to the ER if need be. I told the psychiatrist she sees for anxiety (she hadn't mentioned to him) and he said it was possibly psychogenic. He arranged for a consult this week with a colleague who is also qualified in neurology.
So I have a daughter who is clearly spastic and have three theories of origin: MS, spinal fistula, and psychogenic. In favor of MS--spasticity enough for therapist to raise grave concerns, possibly seizures (hear more common in pwMS), possibly nausea and vomiting (but read contrary things on this). Not sure what an MS episode is like but she fairly often reports bizarre symptoms. Against: hard to get into MS expert didn't mention, no white spots on brain, no Babinski response, probably no eye involvement (she periodically complains about eyes, but then again she sleeps with her contacts in and isn't great at contact hygiene). For spinal fistula: would explain spasticity; against--rare, particularly for her age and sex. For psychogenic: has severe anxiety problem and has had at least two episodes of psychogenic seizures (at a much younger age). Against: have been all over the internet and can find no mentions of psychogenic spasticity or hyperreflexia.
Finally, how alarmed should I be in terms of demanding action from doctors who so far have taken a lacksadaisical approach to her issues? The therapist was clearly alarmed as was the neuro he consulted, but none of her doctors have been. This has been going on for over two and half years. She is near the end of her rope--she can't work or go to school because how she feels from one day to the next is so variable and many days she can barely get out of bed, and so am I.