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There are four types of Waardenburg's Syndrome. They include: WS1, WS2, WS3, and WS4.
I have WS2, which is not the most common, and some of the symptoms are: hearing loss, the inner corner of the eyes are
spaced farther, and different eye, skin, and hair colors. The only known gene to be associated with WS2 is the PAX3, which
by molecular genetic testing can detect WS. I went through, molecular genetic testing to confirm that I had WS2. My parents
also went to gene therapy, and through it they learned more about WS. I am very thankful that they decided to have me.
WS1 is the most common. It has all the symptoms of WS2, but does not include hearing loss or the abnormal spacing of
the eyes.
WS3, also known as Klein-Waardenburg Syndrome, is rare and is similar to WS1, but it includes contractures.
WS4, also known as Waardenburg-Shah Syndrome, is rare and is similar to WS1, but it includes Hirschsprung's disease.
Some tests that I have gone through are: audiometry, genetic testing, bowel transmit time, and colon biopsy.
How did I and so many others get it?
Waardenburg's
Syndrome, autosomal dominant, but also sometimes autosomal recessive for types 2 and 4, is passed down from generation to
generation just like traits are. For men, they can either have it or not have it. It is neither more common in females
or males. They all have an equal chance of getting it. There is also no ethnicity discrimination. Every
person of any ethnic background can get it, and it is not any more common in any of the ethnicities.
| A small glimpse at how you can get WS |
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WS affects not only me, but everyone in my life.
This applies for every person who has it. It personally affects me mentally and physically. I do not look like a regular teenager,
and some of the remarks I receive affect me in the way I think about myself. I often get remarks about the way I look, and
I also get looks of sympathy. It is not easy to have WS. You walk around everywhere that you go feeling that people are staring
at you, and sometimes laughing at you. I describe my disorder as a trait that affects my physical appearance and my life.
WS can't be detected early enough. The only way to know whether or not you could pass it on to your children
is to be tested. A treatment option is surgery. Though there is no cure for WS, we can all still hold out that
one day no one will have to suffer what I and so many others have.
| This was me when I was 8. |
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Please Donate!!!
The goal is $358,000, and all because of you we are almost there! Thank you!
If you have Waardenburg's Syndrome some of the places that you may want to go are: otolaryngologist, orthopedist, neurosurgeon,
audiologist, clinical geneticist, plastic surgeon, or a gastroenterologist.
My sources: http://ghr.nlm.nih.gov/condition=waardenburgsyndrome
http://www.emedicine.com/derm/topic690.htm
http://www.umm.edu/ency/article/001428sym.htm
http://www.bbc.co.uk/dna/h2g2/A677991
http://images.google.com/images?um=1&hl=en&rlz=1B3GGGL_enUS240US240&q=waardenburg%27s+syndrome&btnG=Search+Images
http://www.emedicine.com/ped/topic2422.htm
http://rarediseases.about.com/cs/waardenburgsynd/a/030704.htm
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