Khale was born in May 2011 with a rare disorder called amniotic band syndrome (ABS). ABS is an accidental event, which does not appear to be genetic or hereditary, in which the entrapment of fetal parts in string-like amniotic bands often causes birth defects. Khale had some toes amputated from the banding, while in utero. The banding prevented his leg from growing properly. He wears a lift in his shoe to aid his walking. His knee is twisted in, and his hip pops. Recently, his leg has begun giving out on him frequently. In addition, he has fused toes, a fused ankle and lacks a bone in his heel (we are now not certain if this is due to ABS or Shwachman-Diamond Syndrome). He is provided care through Shriner’s Hospital for Children in Chicago and will also go to Minnesota.
In October 2011, Khale’s health began to decline. He was sick a lot and developed a myriad of health problems. His growth became an issue as he started dropping on the growth curve, eventually ending up at the ZERO percentile.
During October 2011 to November 2012, Khale now has seven specialists that he works with. In October 2012, Khale’s health again declined even more suddenly than before. Everything he ate came back out, and he was rapidly losing weight. He is now down to 19 pounds at 18 months old.
In November 2012, Khale was diagnosed with yet another extremely rare disease, Shwachman-Diamond syndrome (SDS). Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, leukemia predisposition and skeletal abnormalities. Prognosis for individuals with the disorder is uncertain. Because Schwachman-Diamond syndrome was described relatively recently, limited data is available regarding follow-up in these patients.
Khale’s laundry list of diagnoses, which ultimately led up to the diagnosis of SDS, includes: Amniotic Band Syndrome, respiratory difficulties or reactive airways disease (asthma), recurring pneumonia, rashes, greasy/mucusy stool, unformed/soft or runny stool, swallowing inconsistencies, feeding/eating problems, failure to thrive, malabsorption, severe iron deficiency, small cell count, sensory issues, bone deficiency, syndactyly or fused bones, lack of bone growth/deformed bones and neutropenia.