Sharing My Angel
Check out this mission statement from the Aware of Angels website:
Aware of Angels would love to welcome doctors, therapists, colleges, universities and medical schools to be part of this organization. So many of these children are affected with rare syndromes; most of these children need someone interested in their condition to carry out research. We need cures, treatments and the prevention of genetic disorders. A cure for genetic disorders may not come easily but treatments are very much needed. With fine- tuning of genetic testing, the near future is going to be flooded with newly discovered genetic disorders.
I shared Aidan’s clinical story there recently in hopes of finding other families with PURA gene variants and peaking the interest of researchers. It’s exciting to be on the cutting edge of science.
Aidan – 13 years old
Diagnosis-Unknown. Developmental Delay, PURA gene variants
Maine, USA Birth: I had a normal pregnancy, labor and delivery with Aidan and his Apgars were 8 and 9 respectively. He would not eat and so was transferred to the NICU. Aidan had significant central hypotonia and soon required oxygen to support his breathing. He underwent extensive genetic and metabolic testing, had a muscle biopsy and MRI. All tests were unrevealing. He had a nissen fundoplication to fix his reflux and a g-tube placed for feeding. After three months Aidan came home with O2, g-tube, apnea monitor, and still no answers…..