Monday, May 14, 2012

True Story: I Have Turner's Syndrome


This is one of many True Story interviews in which we talk to people who have experienced interesting, challenging, amazing things.  This is the story of Laurel and her Turner's Syndrome diagnosis.

Tell us a bit about yourself!

I'm 25 years old and newly married. I am a writer and a wannabe crafter. I am a bookworm and a proud nerd! I am currently trying to finish my degree in International Studies and Journalism - I may also end up doing something in social work. I have a blog that I enjoy writing for and I am always looking for new readers. I'm adventurous and obsessed with traveling! That is me in a small nutshell!

For those of us who don't know, could you explain Turner's syndrome?
Turners Syndrome is a genetic defect that occurs in about one and every 2,500 live female births. There is no known cause as of yet. Turner Syndrome (TS) is a chromosomal condition that exclusively affects girls and women. TS occurs when one of the two X chromosomes normally found in females is missing or incomplete. The syndrome is named after Dr. Henry Turner, who was among the first to describe the features in 1930.

The most common features include short stature and gonadal dysgenesis, although many organ systems and tissues may also be affected to a lesser or greater degree. The average adult height of a woman with Turner syndrome is 4’8" but growth hormone therapy can increase final adult height. Gonadal dysgensis can cause incomplete sexual development and ovarian failure and infertility.

How old were you when you were diagnosed?
I was diagnosed at birth- thankfully the doctor knew about it and recognized a few key things and decided to run some tests. I am very blessed as my biggest problem is that I cannot have kids. I have no heart problems and no kidney problems etc. I am ADD (though not officially diagnosed) but no learning disabilities that are sometimes common in Turner's girls. I graduated with a 3.75 from high school and maintained a 3.5 in college.

How is Turner's syndrome treated?
Hormone therapy is available and should be started around the age of puberty. For adult women IVF is available but only under serious supervision of a physician.

Does it affect your daily life?
It can. I do suffer from some social anxieties but in general my life is normal. When I was younger it did inhibit my dating life but that was only because I let it.

Are there any benefits to having Turners syndrome?

It has given me such a huge heart for adoption! It is my purpose in life to be able to give a child a home that might not otherwise have one.

What advice would you give to others who have a health diagnosis that makes them feel different?

I won't say it is easy. The constant struggle to fit in when all you want to do is feel normal. To that I say - What is normal? Who defines normal anyway? Who are we to be in a position to make ourselves feel inferior? Live your life - love freely and let go of fear. Stop trying so hard and just live life and enjoy all the blessings it offers.

As I said earlier I am very blessed. Not that there aren't constant struggles (for example I will always struggle with my weight, another commonality), but when I compare what I have with the rest of the world I can be nothing but grateful. In a world where different is weird and people are cruel I hope my story is proof that a positive attitude can get you through anything. I encourage people to educate themselves more and stop letting ignorance become fear and fear become violence. Turner Syndrome is not a well known disease and researchers are learning more everyday. Visit this website for more info!

Thanks so much for sharing!  Do you guys have any questions for Laurel?

18 comments

  1. No questions, but thank you for putting a human face and story to this. I'm a biology teacher, and I talk about human genetic disorders with my students each year. It's sometimes hard to make students realize that plenty of normal folks have genetic disorders. I'm totally bookmarking this to share next year when we reach that unit! Thank you!

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  2. Having grown up knowing I was probably infertile, it's really nice to see somebody else finding a bright side to that - I think if you've always factored it into your future it can be a positive thing, but that's not something people often admit. Thanks for that, Laurel.

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  3. Thank you both ladies!!! Glad I could share my story - it was scary but reading your comments i know it was the right thing to do! I am so glad it helped in even a small way!

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    1. Laurel you are wonderful! My sister was born in 1947 and was never properly diagnosed. My mother was told that she had likely contacted the measles while pregnant with my sister resulting in the many symptoms my sister struggled with. During her teenage years I remember the doctors giving her growth hormones and telling her she could never have children. They didn't know why. Of course it didn't help that we were very poor and my parents were both uneducated and unable to advocate for themselves or any of us. It was during a college class that we were studying genetic disorders when I clearly saw the similarities of TS in my sister. She married and they adopted my wonderful nephew. She was always self conscious of having no breasts. She was about 58 years old when I took her to a doctor who gave her implants in spite of the fact that her husband could care less. He was so wonderful to her. She loved her "new boobs" and my sisters (7 of us) and her friends gave her a "boobie shower". We all had a ball celebrating her "new boobs". Sexy bra's and panties. Great fun. She and my brother-in-law have now passed but her life was full and as great as anybody else's might have been. Be proud and thank you for sharing your life and encouraging others. All God's children have difficulties to deal with. But you are an inspiration just as my sister was. God Bless all of you women with TS.

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  4. I just want to high-five Laurel for her pursuit and passion for adoption~ I'll be venturing down that road since my health set me on that course as well :) good on you, girl.

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  5. Hi Laurel, I too have Turners, although mine is diagnosed as Turners Mosaic. I too am infertile and went into Early Menopause at age 29.
    You can read my story on my website/blog:
    http://soulcuisine.co.nz/early_menopause/
    Thanks for sharing :-)
    Paula

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  6. Hi, Laurel. I have TS too. I am from Lithuania (East Europe) and I want to thank you for sharing this information. I don`t think I could do that, even I creating forum for lithuanian people and writing blog in lithuanian and elglish languages! So, I liked this text :)

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  7. Thanks for sharing! I too have TS however only found out beginning of this year when I delivered my daughter (that's right -there is little hope but certainly not impossible) by c-section. They saw one of my ovaries was non functional (collapsed) and the other about a3rd of the size it should be! Always good to hear others stories...

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    1. hi there, did u only find out in adulthood? i am pregnant and been told identical twins and one might have turners but themore i read the symptoms the more i think i too may have it but i am 35? i struggle socially, short and broad. had ear problems etc. is this possible?

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  8. thank you for this, my daughter had the test yesterday waiting results. Good to know that it wont stop her from achieving in life.

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  9. Thank you for sharing my daughter has TS and I am trying to educate myself so I can answer her questions.

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  10. Thank you for sharing my daughter has TS and I am trying to educate myself so I can answer her questions.

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  11. You are an amazing person and I hope u achieve everything you want in life..Your story really touched my heart.Thank you for sharing.

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  12. such a inspiration! I too have turnersyndrom....

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  13. I have TS I am 37years old and struggle with the fact I can never have children.I feel that I am not a women..women are supposed to be able to have children.I don't want to say too much just Thank You

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  14. Wow so I just came back to this post after a long time away and I am blown away. I have never really shared much of my journey with Turner's. I was diagnosed at birth and have always known that I would travel a different path than most. That just means my life wont be ordinary - thank goodness for that! I would be happy to answer any other questions or to discuss this further with anyone who would like! I can be reached at laurel.martinez11@gmail.com

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  15. hi I have TS too I just wanted to thank you for showing me another bright look to it I wiosh you all the best mai from Egypt

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  16. Thank you all again for your comments. I did not expect tjis reaction at all! Feel free to email me with any questions or comments as well! Thanks to Sarah for letting me share!

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