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Jouubert Syndrome Essay

explanatory Essay
1270 words
1270 words
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Although only three to five percent of individuals are born with a genetic disorder, there are over 6,000 different identified genetic mutations that have been discovered. Different genes affect individuals in different ways. A person may have the gene for a particular genetic disorder and actually have the symptoms of the disease. A person may have the gene for a particular genetic disorder but not show any symptoms either because the onset of the disease will occur later in life such as Huntington disease or because the disease is under control through the use of medication. Some genes make it virtually inevitable that an individual will eventually show the symptoms of the disease whereas other genes merely make an individual more prone to developing a disease. If you are born to parents who both carry an autosomal recessive mutation, you have a 1 in 4 chance of getting the broken genes from both parents and developing the disease. You have a 50% (1 in 2) chance of inheriting one abnormal gene. This would make you a carrier.

There has always been confusion surrounding exactly what a "Related Disorder” is in relation to Joubert Syndrome. In order to clarify this, the evolution of Joubert syndrome in the medical world needs to be understood. The history of Joubert Syndrome is a complex, rich journey. In 1969 Dr. Marie Joubert came across a family with more than one child showing similar symptoms which included abnormal eye movements, ataxia, and retardation, indicating a genetic disorder never before documented. At that time there were no MRI's, no genetic tests, all that they had to go by was what could be observed and what could be understood from a post-mortem examination. In 1977, in Zurich, Switzerland, Dr. Eugen Boltsha...

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...Joubert Syndrome children recently that told a story of flying to New York to attend Joubert Syndrome conference in which other passengers had asked to have the children moved to the rear of the plane, as if the syndrome was catching. The twenty four hour a day care is stressful for parents and caregivers dealing with the physical and the emotional needs of each child. The difficulties of accessing individuals trained to assist with special needs children to relieve the parents is indeed challenging. Sadly, even when respite services are available, the lack of staff communication and working closely with each other, further adds to the problem. Many parents and caregivers of special needs individuals become socially isolated. Although I do not feel any shame for my children being the way they are, I tend to be more introverted now than I was before they were born.

In this essay, the author

  • Explains that although only three to five percent of individuals are born with a genetic disorder, there are over 6,000 different identified genetic mutations that have been discovered.
  • Explains that the evolution of joubert syndrome in the medical world needs to be understood.
  • Explains how dr. bernie maria examined mri scans of living patients thought to have joubert syndrome and developed the term "molar tooth sign". the consensus was that these well defined "phenotypes" represented different genetic causes that had not yet been discovered.
  • Explains that the first genes linked with joubert syndrome were discovered in the early 20th century, and that advances in medicine have allowed researchers to see the effects of mutated genes at a protein level.
  • Describes the characteristics of joubert syndrome, which are similar to cerebral palsy.
  • Explains that the prognosis of joubert syndrome is related to the extent and severity of breathing abnormalities.
  • Opines that the challenges of having a special needs child are overwhelming, starting with the accompanying feeling of shame.
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