A Gift from Above

Emily is both a mother and postpartum nurse. She helps other parents cope with a Turner Syndrome diagnosis while raising a miracle of her own. With this unique perspective, Emily understands the importance of raising Turner Syndrome awareness.


On April 5th of 2016, my husband and I welcomed a beautiful little girl, Ryleigh Laine, into our family.  Oh, and what a precious addition she has been!  She has brought so much joy and laughter to our lives!

Matt and I learned of Ryleigh’s probable TS diagnosis only 12 weeks into the pregnancy. At 16 weeks, an amniocentesis was performed to give us more definitive results. Naturally, we were fearful for our unborn child and what this diagnosis meant for her wellbeing. The amniocentesis indeed confirmed… our sweet baby girl had TS.

We were given the option to terminate the pregnancy but that was not even a question for us. This child for which we hoped and prayed, that we were told our odds of conceiving were slim, that we loved even before she existed…no, she would be given every chance to live and be loved beyond words.

The pregnancy moved along from one week to the next. We were monitored closely by our general OB, High risk OB, and neonatologist. We were at high risk for an intrauterine fetal demise/still birth, which was terrifying to say the least. But from day to day, and week to week, Ryleigh was thriving and presenting just as any other normal fetus! Countless appointments and ultrasounds later, we were ready to deliver!

After an uncomplicated labor, on April 5th at 8:55 am, we delivered a beautiful baby girl!  She was perfect in our eyes. Hospital staff performed an EKG and echocardiogram shortly after her birth. A couple minor concerns presented but no major heart defects were seen. God is good. We were so very relieved. Two days after delivering we were headed home with baby.

Ryleigh was seen by a geneticist who ordered chromosomal karyotyping which gave us the final, definitive confirmation of Mosaic Turner Syndrome. Since then, Ryleigh has been seen regularly by her pediatrician along with a team of consulting physicians including a geneticist, pediatric cardiologist, gastroenterologist, ophthalmologist, and an endocrinologist. Numerous diagnostic tests and blood draws later (which, by the way, she endured exceptionally well with a smile), Ryleigh is doing great! Thus far the biggest area of concern is with her endocrine system. This affects her hormone levels, which in turn, affect her growth. Close surveillance of her growth velocity was of great importance. Ryleigh began Human Growth Hormone (HGH) injections at 20 months of age and is responding very well.

I am also a postpartum nurse and have the honor of sharing our story with new parents facing similar circumstances. I’m blessed to have the opportunity to spread TS awareness not only as a parent but as a clinician.

Ryleigh Laine Anthony; perfectly imperfect, just like us all, and just as God intended. We learned we were pregnant just days before my Mom passed. We were able to share the news with her and see her face light up with so much joy! I will never forget the smile on her face. We fully believe that her Grammy had a hand in her being here and watches over her every single day. The symbol for TS happens to be a butterfly and my mom simply adored butterflies. Grammy and God hand picked her just for us. For this we are eternally gracious.

Ryleigh will surely have challenges ahead but with the support of family and friends, she will do great things! Of this, I am certain.


Join Emily in raising awareness this February and everyday to help miracles like Ryleigh receive the care and support they deserve!

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