Turners Syndrome Awareness | A long journey….

Well here I go again, sharing my heart on my blog 🙂  I can’t help it, as this subject matter hits close to home!  February is Turner’s Syndrome awareness month.  I’m sure many of you are wondering what is Turner’s Syndrome?

Turner’s Syndrome is a genetic condition in which a female does not have the usual pair of two X chromosomes.  It affects only women.  Turners can cause a variety of medical problems including developmental problems, short stature, failure to begin puberty, infertility, heart and kidney defects and certain learning disabilities.  Most cases of TS in a woman are not inherited.  It occurs as a random event during cell division in early fetal development.

***Turner’s Syndrome affects 1 in every 2500 girls born, with about 800 new cases diagnosed each year!

I’m sharing our story because February is Turners Syndrome awareness month.  The main Goal of awareness is to reduce the age of a girl being diagnosed with Turners from Middles School aged (11-14) to early elementary school age.  Many girls go undiagnosed because the symptoms can be hard to understand.  Our journey lasted almost TWO YEARS!

This is my beautiful and amazing daughter Kate….our journey with Turners Syndrome started when she was in the womb….we just didn’t know it yet.  The doctors put me on bed rest at 34 weeks because Kate was measuring extremely small and my amniotic fluid was low.  At 38 weeks, Katelyn was born via c-section weighing in at 5lbs 10oz.  She came out with a full head of blond hair, screaming 🙂

At 8 weeks old, we noticed Kate was spitting up a lot after bottles, but the doctors re-assured us that this was normal.  Fast forward….at her one year appointment, Kate weighed in at just 12lbs and the doctors were finally ready to take our concerns serious.  We were referred to a gastroenterologist for further testing.  After many blood draws and an endoscopy they were able to rule out many gastro diseases.  The doctor told us our daughter was just refusing to eat and our only option was to get an NG tube placed so she could be fed her meals.  We reluctantly obliged to setting up the appointment for tube placement…

The day we checked into the hospital for the NG Tube placement I was literally stick to my stomach….things were running behind and I remember my husband and I were in a playroom at the hospital with our sweet little girl and I looked at him and said I CAN’T do this to her.  I knew in my heart of hearts that this was not the answer…we ended up leaving with out placing the tube…

At this point, I had no faith in our current doctor, we left that medical system and I went to google to research to find the BEST gastroenterologist I could find.  I ended up setting an appointment with Dr. Stafford at Minnesota GI.  He was hands down the best thing that could have happened to us at that point.  He listened to us, finally helped us treat Kate’s horrible reflux.  And finally got us an appointment with a geneticist.  Originally I told him, what if kate is a “little person”, it doesn’t run in our family but at this point I knew something genetically was not right.

We were referred to a wonderful doctor at Children’s Hospital in St. Paul, Minnesota.  Dr. Mendelsohn was amazing.  They called us immediately when the results were in…

Kate had Turner’s Syndrome…

I had no idea what this was and after she explained it to me, my heart sunk, especially the part about infertility.  I cried for her, I cried for me…

But at least now we had our answer…

Two years later, I can honestly say that although Turners Syndrome is really hard to deal with some days it is not ruling our life.  Kate is happy and healthy 5 year old.  She’s been off her reflux meds for over a year!  She’s loving preschool and looking forward to kindergarten next year.

There are things like growth hormone injections daily, that suck, really suck and the unknown…are children a possibility for her?  How will she do in school… But I know that we have the best team of doctors, the most supportive friends and family and above all my Lord Jesus Christ that will get us through any future obstacles we endure!

Please share this post wherever you can!  Lets get the awareness out about Turners Syndrome!!!

For more information please check out the Turners Syndrome Society

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