If a second opinion is needed on this comment, I 100% agree with this. OP is free to try and ask the reddit community out of pure desperation, but be careful of lay comments, even from physicians who aren't experts in OP's child's care.
3.5f with mystery illness 4 childrens hospitals and 14 specialists cant diagnoseThis is going to be so, so, so long and Im so sorry. But we dont know what else to do. Ive tried to compress it the best I could. 3f with medical mystery.First year of life: -couldnt latch until 2 months old -refused all food, in all forms. -up every 20 minutes every single night, wouldnt nap longer than 30. -had newborn shakes that stuck around a year old. -consistently has BM 60-70% mucus, and majority of time was green.February 2017(1 year old): -staring spells began -CT at hospital was clean, sent us to neuro. -EEG performed, no episodes happened, clean. -lost all of the words she had and remained non verbal, despite starting speech therapy at 18 months, until over 2.Eventually they went away after a few months. Doc said absence seizures are harmless and not to be concerned. Released us from his care.June 2017: 16 months old. -woke up and couldnt walk. Screamed when weight put on leg. Took to urgent care. Urgent care ran labs and found a sed rate of 44. Referred us to an orthopedic surgeon. Orthopedic surgeon did treatment for transient synovitis. When it became clear that wasnt the cause, sent us to rheumatology.August 2017: -diagnosed with Oligoarticular JIA (right knee only at this point). -started on naproxen.November 2017: -first steroid injection. Kenalog into right knee. -two days later, woke up screaming and manically itching legs. Hives sprouted. Face swelled, eyes became black, hives all over neck and face. Started wheezing and gagging, rushed her to the ER. ER said it was an anxiety attack from the itching, not anaphylaxis. -steroid injection worked for about two months.Spring 2018 (2 years old): -staring spells started creeping back. -swelling in both knees was coming and going. She was in extreme pain and couldnt walk more than a few feet. Rheumatologist said it wasnt arthritis, it was growing pains. Referred to PT. -we werent super worried about the staring spells, and wanted to wait until the arthritis was sorted out to see neuro. The staring spells were coming more frequently. Her speech therapist asked us if wed ever had her evaluated for epilepsy, as she sees several kids with it, and our daughters episodes were scaring her. -We decided to get her in with neuro. It would be a two month wait.May 2018: -second opinion rheumatologist said there was obvious arthritis and sent her for a second round of steroid injections. Allergy had deemed the first reaction as a coincidence, not from the injections. -had an allergic reaction to the injections again. -she begins collapsing and falling pretty much non stop. To the point where PT and Speech therapists were suggesting a helmet because she wasnt catching herself when she fell.June 2018: -steroid injections failed -our first appointment with PT. PT noticed several left side deficits, severe balance issues (that were worsening), and wrote a letter to neuro suggesting an MRI be done. -woke up soaking wet, dripping in urine, and her urine was brown. Took her to the ER, ER noted it was brown but testing was normal, and she was well hydrated. -had an episode where myself and her speech therapist were present. Eyes glazed over and she started walking around like she was drunk. She became delirious. Then that turned into manic aggression (totally out of character). It lasted 20 minutes start to finish, ended with several staring spells. Speech therapist wanted to call an ambulance. 4-5 minutes later, she was completely back to normal. Took her to the ER where they said it was behavioral. I insisted they call neuro, who said it sounded like worsening seizure activity and scheduled an EEG for the next month. -pediatrician urged us to go to a different childrens hospital and demand an MRI. CT showed a small arachnoid cyst, MRI was clean. Her left side reflexes were slow, and she had a positive babinski reflex on left foot. -lost gross motor skills like squatting or standing up without using hands. Could no longer identify letters, though she had been able to since before 2. -discharged after a negative EEG, but nothing happened while she was hooked up. Told us to get video. -balance continued to deteriorate, along with left side deficits. -got videos of staring spells, neurologist said that it could be seizures or it could be sensory. She passed sensory tests with flying colors, OT said it was highly unlikely to be sensory. Neuro told us to go to a different hospital. -things calmed down for about 3 weeks.July 2018: -PT started noticing balance issues worsening again, she wouldnt catch herself when she fell or even try to. Began falling 2-3 dozen times a day. -she began dropping. Like a robot running and then its power source dying. My husband and I would have to sprint and throw pillows or our hands under her head to keep it from hitting the floor. We couldnt be more than a few feet from her. She would collapse, lay there for 10-20 seconds in a haze, and then sit up. -July 19th she told us her head hurt. A few minutes later, she looked out of it. I pulled out my phone because it mimicked the look when she had the episode of delirium. She began stumbling, so I pulled her onto my lap. She began aggressively rubbing her face and making weird faces. Her body then began to jerk/shake. Lasted 20 seconds. When it stopped, she continued to lay down, still, with her eyes glossed over. Her urine was brown again. -pediatrician sent us to ER. Admitting doctor said it was a tonic clonic seizure based on the video. Was attached to a vEEG for 9 hours, nothing happened. EEG was clear. Doctors said it was behavioral and released her from further neurological care. said there was nothing wrong with her. They called her speech therapist who was livid, as she had been watching her deteriorate right along with us. I needed backup since the doctors were blowing me off. Doctors told speech therapist it was behavioral and from sleep deprivation. But she slept 14 hours a night. -as month goes on, shes dropping and having staring spells non stop. -PT says nothing about daughters exam makes sense. Her balance is awful and deteriorating when walking, standing, crawling, kneeling, but she can jump. Shes developmentally advanced so it doesnt seem lime it could be a developmental issue. Shes also watching my daughter turn into a shell of herself and is begging doctors to do something. -MRI of knees and hips was ordered by new rheumy after worsening gait issues. MRI showed a healing stress fracture in the knee, along with bone marrow edema (with no trauma to explain it) -went limp on a ride at six flags and her eyes rolled to the back of her head for a full 2 minutes. -went to playground and she was climbing one of those coils. Body went limp and she fell 5 feet. I caught her and set her down while her arms twitched and she was unresponsive. Slept for several hours after, and took several minutes of shaking to wake up.August 2018: -basically everything continued with no answers from anyone.October 2018: -a 3 day inpatient EEG was scheduled and nothing happened. I mentioned to the doctors that it looked like a mass was growing on her legs and they didnt look. Sent us home. -pediatrician saw the masses and sent us to orthopedic surgeon. -the muscles in her left knee began to atrophy, despite her being crazy 24/7. She never sits still and is always jumping/climbing/running. Orthopedic surgeon said it was definitely neurological, sent us to a new neuro. The atrophy was so bad we were approaching loss of mobility. She still cant walk for more than 1-2 minutes at this point. -atrophy worsens until November. Other symptoms start to go away.November 2018: -started methotrexate injections for the JIA.January 2019: 3 years old. -urine began to darken again. -symptoms started popping up mildly. -had episodes where shed scream and rub her legs manically saying bees were attacking her. She did it both while we were there, and when we werent. I watched her do it on the baby monitor in the middle of the night. -neuro ordered MRI of spine. Normal. -on jan 16th, I heard noises in her room. I looked on monitor and she was sitting and swaying in her bed. I got to her bed to put her back down and by then, she was jerking. I tried to get her attention but she was unresponsive and eyes were glazed over. -I pulled her onto my lap, where she remained out of it. Her body was jerking, and her right leg started convulsing like it was on a washing machine. Once the jerking slowed, I asked her to point out her nose and mouth. She failed but thought she did it. I put her back to sleep, where she remained restless. Her urine was normal again 2 days later. -urine brown again on Jan 25th. Had a staring spell at a birthday party and was unresponsive for 30 seconds. Fell asleep in the car 10 minutes later, slept for 45 minutes, and then woke up screaming. Continued to scream for almost an hour. Urine was clear again a few days later. -Neuro tested for porphyria. Corproporphyria level was 2.5x adults high normal but said it wasnt high enough to be porphyria. No pediatric reference ranges exist.February 2019: -fingers started severely pruning and turning white in just a few minutes, while her sisters hands (who was 1.5) were completely normal. -throughout all of this, little bite/pimple like bumps showed up on face/neck/joints. They come and go. In February, they got bad. No fleas, no bugs, always accompanied other symptoms.March 2019: -GI said that while shes tall, shes short based on how tall she should be since Im 510 and husband is 64. Wanted to run tests. Thinks theres a larger autoimmune disease at play. -genetics said that something is definitely wrong, doctors needs to coordinate. Said porphyria test could have been deteriorated because it sample taken at home and exposed to light in the car. Said hes concerned by the progression and created a team of doctors to evaluate her case. Was afraid it was possibly life threatening. -testing was planned for summer when she began showing symptoms again. She remained asymptomatic.September 2019: -things remained calm, arthritis was under control. -began flaring in both knees and both ankles. -staring spells, balance issues, and not catching herself came back.October 2019: -things are worsening again. -left ankle is atrophying. Neuro wont call me back. -PT is concerned she wont be able to walk soon because the stuff that atrophied last year has never come back. She still cant walk more than a few minutes without collapsing. Sleeping 13 hours a night. Is complaining of pain and isnt eating. -preschool teachers reporting odd behavior and lots of collapsing. -most recently broke her wrist because she fell down the stairs and didnt try to catch herself. She landed on face and chest, with her arm against her chest. -ETA: her urine was brown again this morning for the first time since spring.Any ideas? Weve been to four childrens hospitals and will be pursuing new ones when we move in February. Im so scared for my daughter and still cant understand the lack of concern by the doctors weve seen. I dont want my daughter to suffer anymore and I dont know what else I can do.Thank you so much.