My daughter is almost 5 years old, and has had multiple medical concerns since birth. We have been ferried from specialist to specialist, and while her condition has deteriorated now to the point that we have an advance directive in place, we have been unable to find any root cause for her illness, nor halt its progression.
As it stands currently, she has intense multi-system involvement - very briefly, here is a list of current concerns by system.
Dermatological - Urticaria pigmentosa, slow healing (yesterday she had an incision reopen from a procedure 6 weeks ago)
Neurological - seizures, left MCA ischemic stroke, stroke-like episodes, hypotonia, autonomic dysregulation, global developmental delay, behaviour and impulse control issues, ataxia, tremors
Cardiovascular - ECG abnormalities, bradycardia
Respiratory - recurrent pneumonia, asthma, respiratory muscle weakness
Ophthalmological - significant hyperopia, exotropia
Gastrointestinal - dysphagia, GERD, mobile intestinal malrotation, repeated bacteremia due to bacterial translocation (most recently, lactobacillus, pseudomonas and e coli), chronic intestinal pseudo-obstruction, chronic constipation, malabsorption, severe dysmotility - in short, intestinal failure, she has been TPN dependent for over a year now
Nephrological - renal Fanconi syndrome, secondary to suspected mitochondrial dysfunction (electron transport chain testing demonstrated reduced activity across all complexes), massive generalized aminoaciduria
Hematological - Bone marrow "failure" - refractory anemia, elevated INR/PTT resistant to Vit K therapy, thrombocytopenia, does not mount a white cell response to bacterial sepsis
Does this ring any bells? I am not expecting to have success with this - some very gifted medical minds have been unable to come up with anything unifying up to this point, but nothing ventured, nothing gained.