Child wins battle against EDS

Posted by Anj Segovia on Dec 1st, 2009 and filed under Science. You can follow any responses to this entry through the RSS 2.0. You can leave a response or trackback to this entry

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image source: s3.amazonaws.com

If you look up the name Mackenzie Mathis, you will know about a 19-year old girl who fought EDS, or Ehlers-Danlos syndrome.

EDS is a neurological condition. It is a collection of genetic disorders that affect collagen. People who are diagnosed with EDS often experince a downward pull of the spinal cord, which causes Chiari malformation.

When Mathis had the disease, her legs gave out, and she had to suffer headaches and two surgeries. Fortunately, Mathis can now use her legs well. She is able to walk on normal strides as well as drive and dance.

EDS includes a group of inherited disorders which weaken the connective tissue supporting the skin, bones, blood vessels and other organs. Patients of EDS usually experience problems on their skin, joins and blood vessels such as loose joints, fragile vessels, and abnormal scar formation.

For all cases of EDS, it seems faulty genetics is at play. It happens when both parents carry the defective gene.

This is why diagnosis of EDS usually requires a series of examinations which include reviewing the patient’s family history, personal medical history, physical exam, biopsy, and urine testing.

(via Duniyalive.com)

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  • Beth
    1) EDS is not a neurological condition. Is a connective tissue disorder.
    2) To say that most people with EDS experience a downward pull of the spinal cord is an exaggeration.
    3) EDS is a genetic condition. Both parents do not have to have the gene in order for the condition tobe passed on. EDS is typically caused by a dominant gene, which means that only one parent has the gene and passes it along to the child. In other cases, but not nearly as often, EDS can be caused by a spontaneous mutation, which means that neither parent had the condition.
    4) More information can be found at www.ednf.org and www.genetests.org.
    4)
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