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A Twist of Fate-ATS is a 501c3 nonprofit patient group for arterial tortuosity syndrome, which is an extremely rare autosomal recessive genetic, connective tissue syndrome that causes hypermobility, and hernias. It is mostly known for causing the arteries through out the body, to grow too long and kink. Due to the abnormal, excessive growth and the elasticity of the artery walls, the arteries kink and twist, thus causing the risk of strokes, heart attack, aneurysm, and death to be extremely elevated. There are only around 100 documented cases of ATS since the late 1960's in the entire world and the mortality rate is 40% by age 5. Unfortunately, it is so rare, diagnosis usually does not come easily, nor is it usually detected early. Some patients have been previously diagnosed with other connective tissue disorders, such as Elhers-Danlos Syndrome (EDS) or Loeys-Deitz Syndrome (LDS), and it is not until there is a life threatening event that more diagnostic testing is performed. ATS is caused by a mutation in the SLC2a10 gene, this particular gene encodes the protein GLUT10, which is a glucose transporter. This mutation is what causes problems in the walls of the arteries and veins causing the fibrous make up and elasticity. In order for someone to have ATS, both parents must be carriers of the gene mutation and pass it on to their children. If a family with one child has ATS, then each of the other children will have a 25% chance of also having it; it is possible for an unaffected child to still be a carrier. There is speculation that the carriers of the gene mutation may also have health issues, but unfortunately there has not been enough documentation and research to be sure how they are effected. Our goal as a patient group is to link families with researchers and physicians to learn more about this ultra rare disorder, to promote awareness and education about ATS, support families with ATS, as well as to help fund studies on ATS.
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