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My Odyssey

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

Wilson Disease: Diagnosis story

A boy diagnosed with Wilson disease A few months ago, I received a phone call from a pediatric neurology specialist regarding one of his patients. I…

My Odyssey

My Odyssey #16: A man diagnosed with X-linked Agammaglobulinemia

The closure he needs: Genetically confirmed X-linked Agammaglobulinemia after 24-year wait We first saw Saravanan in our immunology clinic in 2021. Saravanan is a 40-year-old Indian…

My Odyssey

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

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.…

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