My son had a five minute seizure in February. For a couple weeks prior to this, he suffered from severely dry skin and irritability. He was always fatigued and cranky. Family members commented that Tommy didn't look well for a few months. He is short in stature, his bone growth is age-approriate (as measured from the bone scan), he is not mentally challenged, his facial features are proportionate, and there has been no other seizures. He is taking calcium, phosphorus binders, and calciferol.
He was diagnosed with hypoparathyroidism, hypocalcemia, hypomagnesemia, and hyperphosphatemia. We have done genetic counseling, and so far three of the gene tests for the three popular culprits for hypoparathyroidism have shown negative. I was told that these still have a false negative chance.
The possiblity of Tommy's condition being something more frightens me. The doctors are stumped as to the cause. There was no traumatic injury to his neck other than nuchal cord (twice around the neck) at birth. He needed to be resuscitated as well. I don't remember much after his birth other than I wasn't able to hold him for 45 minutes. He was a very healthy baby and child, growing at 50% all around until age 3 1/2 years, then plateauing until after his seizure and medication more than two years later.
The only other thing that comes to mind is that I have the HLA-B27 gene. My sister and grandfather have ankylosis spondylitis. My husband and his family have psoriasis. I have gout (a 29 year old female, my luck) and fibromyalgia. Could Tommy's condition be autoimmune?
What is the diagnosis and why?