Turner's Syndrome

Turner's Syndrome at this point is a complete mystery.
Despite all of the reading, talking, learning we've done- nothing is certain.

I smile each time a friend or family member gives their thoughts or knowledge about Turner's Syndrome, something I've not told them, and something they didn't already know. I love that this blog, this "thing" that has happened, has given so many people that we know the chance to research and learn a little more about this rare syndrome that many girls in the United States, and the world, are living with. We as humans have an amazing ability to know so much, and yet so little about the world around us. This has given all of us a little glimpse into something or somethings that most of us knew little about. How cool is that?

With that, however, comes a bit of fear. This fear is two-fold.

With each bit of information I hear people sharing comes the thought, "How did you figure that out?" For most of us, I'm doubtful we went to the local library or physician and asked some questions and did some research-based reading.

No, it's 2014. Ain't nobody got time for that.

We likely picked up our computer, our tablets, or our phone and went to none other than google, or some variation of it (does anyone use anything but google anymore!?). That's what I did. That's what I do.  And since we all know EVERYTHING on the internet is true, I'm hesitant to be pleased about what they might have read.

Some things on the dear interweb regarding Turner's are true, some are not. Some are terrifyingly true, some of terrifyingly untrue. Some are helpful. Some are just not.

I have talked with some people with Turner's first hand, obviously, and learned some good places to go to for information. This is the website I recommend: http://www.turnersyndrome.org/.  Many people who are dealing with a diagnosis such as this refer to many places on the internet as "the scary websites." They aren't really fond of them. Besides the internet, I've also learned some facts right from doctor's and moms alike. Here is what we know:

**Turner's Syndrome is named after an endocrinologist that first described it, based on multiple patients he had that were displaying similar characteristics. His name was Henry Turner.
**Turner's can only appear in girls.
**Turner's is a rare chromosomal abnormality on the final chromosome, the sex chromosome, the 23rd chromosome passed from both mom and dad, of girls. Girl's generally have XX here, girl's with Turner's have some variation of that. For some, "true Turner's," it is described as XO, meaning there is only one X, and quite literally nothing in that other spot. There is also "mosaic Turner's," which can look pretty different. It can be where they have a partial second X chromosome, half a second X, or a large portion of it. Each of these versions of Turner's carry with them different 'symptoms,' we'll call them.
**Turner's can be from either the mom not passing the X chromosome normally, or the dad. Some doctor's say that whether the mix up was maternal or paternal can cause some variation in the symptoms that girl's portray as well.
**As with all chromosomal abnormalities, there isn't anything that could have been done differently. It happens. It's possible that Kevin and I are at risk for chromosomal abnormalities as a team (meaning we don't match up right magically somehow), though usually it is simply a "oops" in nature.
**98-99% of babies conceived with Turner's syndrome end in miscarriage or stillbirth.
**Of that number, most (no one can seem to tell me what the "most" number is) are in the first trimester, or early second trimester.
**No one seems to know precisely why so many girl's with Turner's are lost- though many think it is the heart, as well as, or in combination with, a slew of many other things that can develop in utero, such as fetal hydrops (fluid in and around more than one area of the baby's body, ex. fluid around the heart and brain) combined with hygroma (Nora has this, a fluid filled sack, usually on the back of the neck) kidney malfunction, and liver problems.
**Despite all of this, something around 1 in 2,000 (I've heard anywhere from 1 in 1,500 to 1 in 2,500) live births deliver Turner's Syndrome babies.
**The average age of diagnosis for girl's with Turner's is around 10 years of age. Many develop normally at first, but fail to grow after a certain point or never enter puberty on their own. It seems like with modern medicine more are being diagnosed at birth. Few are diagnosed in utero.

Symptoms and traits in life can vary greatly! Some symptoms might include:
-Short Stature, with an average height of 4'8". Though modern medicine and early detection can help girl's grow to even an average height in some cases.
-Failing to never go into puberty (though in the mosaic forms, some girls do spontaneously hit puberty on their own). Hormone replacement therapies help these girls develop.
-Infertility. Though it has been heard of for mosaic, and even some true Turner's girls, to conceive. It can be a very high risk pregnancy and cause serious health risks to the mother throughout and after. Modern medicine, again, has made many options available for these women.
-Heart defects occur in about 1/3 of girl's with Turner's. There are four main heart defects they see, most of which are not life threatening, and could vary in treatment from medication to heart surgery.
-Kidney, liver and thyroid concerns might be present (vague, right?)
-Recurring ear infections is common, as well as some hearing loss.
-Scoliosis can occur.
-Girl's with Turner's are more susceptible to have diabetes, as well as obesity.
-Though intelligence level is often that of the average population, girl's with Turner's sometimes have learning difficulties labeled in the school world as an "SLD" (Specific Learning Disability), which often appears in mathematics and spacial learning. Most girls can remain in the mainstream classroom setting, however.
-Social interaction can sometimes be a struggle for these girl's and at times they are diagnosed with Autism or Asperger's as well, though this is rare.
-In very rare cases, and usually when multiple disabilities or abnormalities exist, girl's with Turner's are severely cognitively disabled and are unable to care for themselves or live independently. This is indeed very rare.
-Girl's with Turner's may also have a webbed neck, low-set ears, many moles, and a receding lower jaw line. In some cases I've heard doctor's discuss a larger forehead, low hairline in the back of the neck, and a wider chest as well as an eye-shape in which the eyes point slightly downward.

For those of you curious about what Nora Grace has, we don't know. But, we have a list of "abnormalities" that the perinatologist has found. However, I'm not certain how big of a concern they are at this point. Nora has a cystic hygroma on her neck. It isn't huge. It isn't miniscule. It may resolve itself. It could grow. Last measured it was 10mm at it's largest point, the size of ten dimes stacked. This can be removed after birth if it doesn't resolve itself. They were very concerned about her heart. The cardiologist told us it looks normal, we meet with her soon to check again. Before a diagnosis they searched every little spot on her little body to find things that could be wrong. They found that her head was sort of misshapen (I'm going with the idea that a baby at 20 weeks in utero can't possibly have a "normal" head, right?). They discovered her chest was slightly misshapen as well, caving in at the front just slightly (again, this kid has been floating in a sack of fluid for months, what do you expect!?). She has a forehead that seems too large (for her large brain, obviously!). She is small. At twenty weeks, her cerebellum, which always grows consistently with the age of the baby, measured about 19 weeks, 5 days. Pretty dead on. Her femur, a good way to measure growth, measured about 17 weeks. Two and a half to three weeks too small. Not a huge concern, and can be explained in my non-doctor mind because of Turner's Syndrome, which has a primary symptom of short stature. Finally, it was too difficult to tell on the ultrasound, but near the hygroma it appeared there could be some fluid around her skull, but really only near where the hygroma was. That was inconclusive really; they just couldn't tell. When we asked the doctor how big a concern all of these things were at this point, it seemed as though the answer was, "I dunno," complete with a shoulder shrug.  I commend him for his honesty. And for not scaring the crap out of me. I'm living off of hope.

We don't yet know if Nora has mosiac or true Turner's. In some cases, girl's with mosaic Turner's exhibit less symptoms, or symptoms in lesser degrees. We can get some kind of information to answer this question in utero, and we will discuss that with our doctor, however, at times it is inaccurate. The best way to know will be a karyotype test once she is born. While in utero her heart looks fine, last we knew her kindey and liver looked good, too. But this can all change in weeks to come and still after birth. We will have many tests done once she is born to check every nook and cranny and develop a treatment plan from there. She may come home promptly after arrival, she may hang in the NICU for weeks or months. Right now, we can deliver vaginally at PVH in Fort Collins, though it's possible for a c-section or induction at PVH or Children's as well. Only time will tell. We don't know what symptoms she may or may not have.

We will discover the needs of our little girl as she grows.
And so will every mother and father out there with any child.
We know Nora has got a chromosomal abnormality, this puts her at risk for lots of things, but every child born every day is at risk for a billion things, and while Nora still has all of those risks, plus those associated with Turner's, she is our perfect little girl.

This brings me to the second fold of my fears.

When Nora is finally here people are going to be looking for what is wrong. I will too. I'll need to know. Everyone will look and wonder, "Does she look normal?" "Does her heart work?," "Can you see that hygroma?," "Will she have to have the hygroma removed?," "Is her neck different?," "Is she sick?" etc. etc. etc. etc.

It's human nature. It's normal to need to figure out those things. It's normal to be a bit scared of all of these things. We all wonder. And for the doctor's, whom I have full faith will ensure our little one gets the best possible care, please, search and search and fill us all in when you're done. For everyone else, please know that Nora is a badass (Sorry Mama, not sorry for cursing). If Nora is of the 1% like her that makes it, she deserves a parade, a party, a cupcake, and so much celebration. And that I will ensure she gets. Make no mistake about it. Her arrival will not be littered with fear, but rather so exciting, and filled with gratitude. Everyone. Get. Pumped. Up!

In her life, Nora might choose to discuss her diagnosis with friends and family. There is a chance that her diagnosis will be visible to the unknowing eye.  I am sure there will be comments made, there will questions asked, there will be those that are skeptical and unkind. But given that everyone in this world faces that at some point for some reason or another, and I hope so! it builds our character and our confidence, I am certain Nora will, too. But let's go ahead and let the world discover those differences. Instead of us looking for her abnormalities, let's celebrate all the cool things about her. And for goodness sake, let's praise her for being one tough cookie.