Conditions and Diseases: Genetic Disorders: Personal Pages
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Conditions and Diseases
: Personal Pages
Alpha1 Antitrypsine Deficiency
One man's perspective and journey with A1AD and a list of links and other resources from the internet.
Ashly's Skeletal Dysplasia
A mom describes her daughters disorder which is thought to be a metabolic disease similar to mucopolysachharisdoses. Also links to other related sites.
Treacher Collins Syndrome - A Personal View
UK based website, containing information about the disorder, with helpful links and discussion forum.
The story of Madison Wigglesworth who has hurler syndrome. Includes photo album and links to informative sites.
Taryn's World: About Switches
Personal page for kids and parents about genetic disorders, especially mannosidosis.
Robert Kenneth Picklesimer
Born with Jeune Syndrome or Asphyxiating Thoracic Dystrophy in Louisville Kentucky. He underwent corrective surgery in San Antonio Texas, called the Titanium Rib Project.
Personal account about a daughter having Opitc Nerve Hypoplasia, Septo-Optic Dysplasia and had either a Congenital stroke or has schizencephaly.
Information on this rare chromosomal abnormality.
Story of Robert Purkis
A small boy's health problems, possibly Leigh's Syndrome, and how his parents have helped him improve his quality of life.
Dedicated to raising awareness of the genetic disorder known as MCAD deficiency and the importance of early detection.
Discussion site for mowat-wilson syndrome. Includes a links page, photos, a community page and a discussion area.
The author request help from geneticists, neuroscientists, pharmaceuticals or biotech companies.
A baby's fight with MPS I, Hurler Syndrome. Information on the disease and links to other children fighting disease.
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