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"Understanding a Turner Syndrome Diagnosis

Being told of the possibility that you or your daughter may have Turner syndrome is certainly scary. The unknowns and what will your life look like if diagnosed. One of the first questions I often read in support groups is how to diagnose it for sure. The best and most common way is called a Karyotype..It is a simple blood test that does a snapshot of your chromosomes and looks for abnormalities.The results take usually 1 to 2 weeks. After the diagnosis, you will of course have many questions. It is hard to know the anwsers for sure as no case is the same and can range in severity. Due to this often times the diagnosis dose not comes until later in life . I am often asked why I was different. I had shown pysicial signs of the disorder as soon as I was born so my doctor knew that I should be tested .

When it came back that I had Turner Syndrome my parents were heart broken not sure what to expect and the uncertianlty of this disorder was very scary. .In time they learned to be an advocate for me and later taught me how to be advocate for myself.It can often be overwhelming the doctors visits , if needed learning to navigate a IEP . It was that way for our family at first to. I learned that as I navigate this disorder that support groups are so very weloming and full of advice as they are learning as they go to. I also learn to as I thought of questions to write them down so I was prepared for Doctors visits. I learned that mecial websites are helpful but at times give you more questions than answers so take them with a grain of salt .Yes Turner Syndrome can be scary and can cause complications but is is certainly not a terminal and most often those diagnosed with the right medical care and educational support can go on to live mostly normal lives .

My overall advice as someone who lives with this is to stay postive and focus on the amazing mericial that is the butterfly that you or your daughter are . If you are not sure if your daughter should get tested here are some common signs to look for . Like i said ealier no case is the same but these are some common chartoristics of those that are diagnosed with Turner Syndrome

-Short Stature

-Delayed Puberty

-Heart complications

-Learning Disabilites


-Puffy hands and Feet

-Recurrent Ear Infections



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