The participant was born at 37 weeks gestation. He weighed around 4.9 pounds at birth. He was exposed to many substances before he was born (nicotine, cocaine, heroin, methadone, and oxycodone). After birth, he stayed in the NICU for 5 weeks due to neonatal abstinence syndrome and feeding difficulties. He … read more
The participant is a 34-year-old woman who developed episodic muscle weakness and pain beginning at age 9. Episodes are characterized by acute worsening of weakness, including paralysis, and last from hours to days. Triggers include physical exertion, fasting, illness, stress, and temperature extremes. Symptoms progressed significantly in early adulthood, leading … read more
The participant began to experience tremors at 4 months and concerns were raised for global developmental delay when she failed to meet developmental milestones. Early in life, she had episodic fevers, frequently requiring hospitalization, and staring spells thought to be seizures (absence seizures). After evaluation by neurology, she had an … read more
