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My Odyssey

Exploring the journey of patients, who against all odds, achieve completion of their diagnostic odyssey.
14 posts
My Odyssey

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

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

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

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

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

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

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

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

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

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

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…

My Odyssey

My Odyssey #3: Diagnosed with SSOAOD

Start of the Story A boy was born at 39 weeks of gestation to healthy, nonconsanguineous parents. He weighed 3.2kg (13th percentile) at birth. First…

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