And We Have an Answer

Arabella has been through a slew of tests recently because her new pediatrician in Maryland was still wary of the events in Arabella’s life all just being a coincidence.  Bella has had feeding issues, short stature, and physical development issues.  Now, she’s fine.  Tiny, but fine.  However, our pediatrician still thought it was worth having a little bit of genetic testing done.  I’ve always been grateful for having cautious doctors who recommend further treatment or investigation and I wasn’t about to stop that trend now. 

We went to Johns Hopkins and had some testing done after our initial meeting with the geneticists.  Bella had vials of blood drawn, a full body of x-rays, an ultrasound of her abdomen and all of the organs in that area, another set of x-rays, and an echocardiogram performed.  What did the doctors find?

X-rays: normal, with a bone age of 3 (2 standard deviations from normal which is in a normal range)

Ultrasound: normal.  All of her organs are in the right place and the right size and shape.

Echocardiogram: Normal…mostly.  Each person has three valves that stem from the aorta for blood flow, but Bella has two that look partial fused together.  I’m not really sure about this.  We will find out a lot more at our follow up visit.

Blood work: Body parts are functioning normal, BUT, Bella’s chromosomes are different from a normal girl’s chromosomes.

This week we found out what Bella may or may not have: Turner syndrome.  Syndrome is a scary word, but it doesn’t have to be.  All syndrome means is that there is a set of symptoms that are common to a particular condition.  Turner syndrome has a set of characteristics that apply to the girls who have it.  These girls may have some or all of the characteristics and the characteristics may be mild or more obvious.  Bella has been fortunate enough to have very few and very mild characteristics thus far.  In fact, the characteristics are mild enough in her that the doctors of the genetics clinic want to take one more vial of blood to look at her chromosomes more closely to be completely sure of what they are diagnosing. 

Turner’s is something that occurs only in women and is becoming more common in the sense that more and more doctors know what to look for in a patient.  To give you an idea, here are some facts:

• TS affects 1/ 2,500 live female births.
• There are over 71,000 women and girls living with TS across the United States.  Over 300,000,000 people live in the US.
• It is estimated that only about 1% of fetuses with only one X chromosome survive to term and that approximately 10% of all miscarriages are due to Turner syndrome.
• Diagnosis of Turner syndrome is confirmed by a blood test called a karyotype, which analyzes the chromosomal composition of the individual.

What does our future hold with this diagnosis?  Well, initially it just means monitoring and more doctor visits.  Bella will now have a cardiologist, as heart problems are common in Turner patients, and an endocrinologist, because of growth is always an issue for Turner patients.  Other parts of her body will be more closely looked at during checkups (some yearly, some not).  When she comes to the typical age of puberty, we will discuss how we want to add estrogen to her hormone regiment.  There is a very small chance she will go through puberty like normal, but it is unlikely.  The real question will be when to start estrogen, as it is an essential hormone to a woman’s body.  As she reaches adulthood, she will have to decide how she feels about having children and what she is willing to go through to have a child. 

Things are going to be complicated, but completely manageable.  Am I happy to have this diagnosis?  Once we have verified it, yes and no.  I am happy to find out  what’s going on and to be able to have a plan, but there are some aspects of this syndrome that are sad to think about.  For now, we’ll continue to live life as normally as we had before.  If we didn’t tell anyone Bella has Turner syndrome, I’m pretty certain no one would know the difference.  She’s happy and healthy and I can’t ask for anything more.