The participant was born with a narrow nasal passageway (choanal stenosis), brain and spinal cord abnormalities (Chiari 1 malformation, syrinx), two-vessel short cord, eye abnormalities (right eye microphthalmia with coloboma), and heart defects (bicuspid aortic arch, hypoplasia of the aortic arch). Just after her second birthday, her parents noticed she … read more
The participant’s parents began to have concerns about her development when she stopped babbling at 3 months. She started to have different eye movements around 6 months and, when she began walking at 18 months, she walked differently (ataxic gait). She was treated with rituximab, IVIG, and ACTH, which helped … read more
The patient has multiple chronic medical problems including esophagus damage (achalasia), low cortisol, an inability to produce tears (alacrimia), severe pain with urination, delayed gastric emptying (gastroparesis), autonomic nervous system dysfunction (dysautonomia), increased heart rate (supraventricular tachycardia), and bipolar affective disorder. The patient also recently transitioned from female to male … read more
