Tomorrow, May 6th is Emily and Joe's 13th kidney birthday! 13 years ago Joe selflessly donated one of his kidneys to Emily when she was just 4 years old and Thursday we are celebrating life and kindness. Don't forget how important organ donation is- it can save lives so make sure you are registered to be an organ donor!
GeneReviews states, "All affected individuals have progressive steroid-resistant nephropathy, usually developing within five years of the diagnosis of growth failure and terminating with end-stage renal disease (ESRD). All tested individuals have T-cell deficiency and associated risk for opportunistic infection, a common cause of death."
An excerpt from my journal:
"Emily’s kidneys were failing! She was first diagnosed with
Nephrotic Syndrome/Focal Segmental Glomerulosclerosis (#FSGS) in October of 2007 at age four and after exhausting every drug regimen to treat the disease she was put on peritoneal dialysis in February of 2008. By April her kidneys were completely shot and she was in need of a #transplant. Her daddy, Jeek Masters gave her this precious gift of life on May 6, 2008. What should have been a fairly smooth transplant turned out to be a nightmare and ultimately led us to our #SIOD diagnosis."
Background
Schimke immuno-osseous dysplasia (SIOD, OMIM 242900) is an autosomal recessive disease; its prominent features are facial dysmorphism, hyperpigmented macules,focal segmental glomerulosclerosis (FSGS), spondyloepi-physeal dysplasia, and T-cell immunodeficiency [1–3]. Additional features include hypothyroidism, abnormal dentition, bone marrow failure, thin hair, corneal opacities, arteriosclerosis, cerebral ischemia, and migraine-like head-aches [2–5].
The renal disease begins as proteinuria, progresses to steroid-resistant nephropathy, and ultimately advancesto end-stage renal disease [4, 6]. FSGS is the predomin-ant renal pathology and is refractory to treatment with glucocorticoids, cyclosporine A, and cyclophosphamide [4, 6]. Suggesting a cell autonomous mechanism for the renal disease, renal transplantation is efficacious, and thedisease does not recur in the graft [2, 4, 5]. Morimoto et al. Orphanet Journal of Rare Diseases (2016)
