My Odyssey #15: Nazheef’s diagnosis story of Mowat-Wilson syndrome
Finally, we know the answer: Mowat-Wilson syndrome The story is about a 7-year-old young boy Nazheef, who had a global developmental delay with epilepsy, congenital heart…
My Odyssey #14: Siblings diagnosed with Pyridoxine-dependent Epilepsy
Genetic testing, providing answers for two daughters It was a typical day in the summer. I (Anum Shafique) went to locate families with epileptic disorders in…
My Odyssey #13: Diagnosed with Ataxia with Vitamin E Deficiency (AVED)
A Long Journey of Mysterious Disease Gets Right Back on Track One day in summer, it was a simple routine day doing my clinical demonstration for…
My Odyssey #12: Autosomal recessive Limb-Girdle Muscular Dystrophy
Patient back-story The story is about a young student of 24 years of age of North African ethnicity that noticeably has difficulty walking that is related…
My Odyssey #11: Korea's First Case of Gabriele-de Vries Syndrome
A look into Korea's first-and-only documented case of Gabriele-de Vries syndrome.…
My Odyssey #10: TFE3-related Neurodevelopmental Disorder
Here is Olivia’s story diagnosed with TFE3-related neurodevelopmental disorder. Olivia’s features shown before and at birth Olivia had ultrasonography before birth, and was suspected…
My Odyssey #9: Diagnosed with VCTERL
Here is Irene's story diagnosed with Vertebral, cardiac, tracheoesophageal, renal, and limb defects (VCTERL). Irene’s First visit to the hospital When Irene first visited the…
My Odyssey #8: Diagnosed with IPEX
Here is James' story diagnosed with Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX). Beginning of the story James was born at full-term delivery to unrelated parents. After…
My Odyssey #7 - Encephalopathy, Lethal, Due to Defective Mitochondrial Peroxisomal Fission 1
Here is Hannah's story diagnosed with Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1(EMPF1). Beginning of the story Hannah was born at 37 weeks…
My Odyssey #6: Diagnosed with Infantile Cerebellar-retinal Degeneration
Beginning of the story A girl was born at 38 weeks of gestation to unrelated parents. Her delivery was done with a Caesarean section, weighing 2.…
My Odyssey #5 - Diagnosed with Molybdenum Cofactor Deficiency Type B
Beginning of the story A boy was born to a family with a cute 2-year-old sister. He was born at 38 weeks of gestation to unrelated…
My Odyssey #4: Two Kids Diagnosed with Cardio-facio-cutaneous Syndrome
Beginning of the story A boy was born at 35 weeks of gestation from healthy, nonconsanguineous parents. He weighed 3.5kg at birth, which was a…