There are numerous stories of young kids who have certain disabilities or any other disease due to which they cannot live their lives like other children! But today is a sad day for all of us because this is another tragic story of a young girl whose name is Emily Hughes.
Emily Hughes is a beautiful 3-year-old little girl who is suffering Rett Syndrome. She was born on July 11, 2012 without any signs of this debilitating disease and developed like a normal child. However, after a year, she started showing some abnormalities; she was not able to say words, like "mommy and daddy" up to 1-year-old. Moreover, her growth also started declining and this was the actual time when her parents realized that something was not right. Emily Hughes did not talk, she never learned to walk, and she was not growing same as the children of her age grow. These were the symptoms of Rett Syndrome which Emily Hughes showed.
Rett Syndrome, which attacked Emily Hughes as well, is a unique postnatal neurological disorder that is first recognized in infancy and seen almost always in girls, but can be rarely seen in boys. The real cause behind the Rett Syndrome is the mutations on the X chromosome on a gene called MECP2. It is not a degenerative disorder. As seen in the little girl, Emily Hughes, Rett Syndrome causes problems in brain function that are responsible for cognitive, sensory, emotional, motor and autonomic function. These can include learning, speech, sensory sensations, mood, movement, breathing, cardiac function, and even chewing, swallowing, and digestion. Rett Syndrome has been most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay. That is what happened in Emily Hughes`s case as well; her pediatrician, thought for a long time that she was just behind in her development, and that everything would be "ok."
Later, in Orlando, Emily first saw Dr. Richard Finkle, M.D., Pediatric Neurologist. He referred Emily to Dr. Patricia Wheeler, M.D., specializing genetics to do some tests. Finally, they found the answer that on August 11, 2015, when she was diagnosed with Rett Syndrome.
Now, as it has been diagnosed that she is suffering from Rett Syndrome, there is a massive need of fund raising for her because the treatment to save her is quite expensive and her parents are desperate to get her treatment done like all other parents would be! So, this is the time to step forward and do something for this young girl who needs help, and all children suffering with this disease.
FURTHER DETAILS
To learn more about Rett Syndrome, go to https://www.rettsyndrome.org/document.doc?id=168
To get more information about the fund raiser, log on to http://www.rettsyndrome.org/golfforeacure
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