what I want you to know: Turner Syndrome

What I Want You to Know is a series of reader submissions.  It is an attempt to allow people to tell their personal stories, in the hopes of bringing greater compassion to the unique issues each of us face.  If you would like to submit a story, email me. **This is a special submission for me, because Brittani has been our babysitter for over a year.  She is such a blessing to our family and my kids adore her.  I’m not sure how we could function without her.  I think her take on life is inspiring and I’m so glad she decided to share her story.** I have a chromosomal abnormality called Turner Syndrome. It is a disorder that affects about one in 2,500 females. The somewhat simple medical breakdown is that I am actually missing a chromosome. The specific chromosome that I am missing is my 46th and last chromosome. This chromosome also genetically determines the sex of a fetus when it’s developed. What this means is that I only have one "X" chromosome, when a "normal" female should have two "X" chromosomes. What I want you to know about this is that this does not make me any less of a female. Interestingly enough, when I told people about this their first question is always "well, does that mean you aren’t female?". No, it doesn’t because in order to be a male you need to also have a "Y" chromosome. I’m quite the expert about 45X. It is part of my story. One of the things that I’ve been wanting to share about is my story. It is truly something that is embedded in the fabric of my heart, mind and soul. This is not normally something that I tell a lot of people. But recently I’ve felt this push or inclination to share, to be vulnerable, and open. Because I’ve seen lately the good that can come from that. Let me elaborate… I was born with a condition called Turner Syndrome. It is a chromosomal disorder that occurs in females, where they are born with a missing sex chromosome; meaning that usually a person should be born with 46 chromosomes but I was only born with 45. (Hence, the science jargin for missing your 46th chromosome is sometimes called 45X.) If you are male, your last two chromosomes (your 45th and 46th) are XY; and if you’re female your born with two X’s (XX). I however am missing my last chromosome. This abnormality is called Turner Syndrome because the person who described it was a doctor named Henry Hubert Turner (as with any medical condition) :). In case you were wondering, this means that I was born female (with all the female parts)…you have to have the Y chromosome for a fetus to begin to grow male parts. About 1 out of 2,500 females in the world are born with this chromosomal abnormality. Amazingly, my body can function without a 2nd X chromosome (the 2nd one is really only there to recognition of sex during fetus developement…even in females with a normal XX, the 2nd X really doesn’t do any work. I’ve learned this in my genetics/science classes). It does have medical implications though. A lot of females born with Turner Syndrome have heart conditions, diabetes, physical abnormalities like webbed feet, broader diaphragms, short stature. I’m quite fortunate to not suffer from many of these, and none of which are serious to my health.
My parents found out very shortly after I was born that I had Turner Syndrome (TS). One of the tell-tale signs on the probability that I might have TS was that I was a shorter baby, and had swollen feet. Tests were done and confirmed that I in fact was missing my 46th chromosome. My parents found out that one of the things that came along with me having TS was that I have one kidney that is shaped like a horse shoe, and instead of a tri-cuspid valve in my heart I have a bi-cuspid valve (meaning a special valve in my heart that is suppose to have 3 flaps to open and close, I only have 2–but the two still completely cover up the valve like it needs to be). One of the leading & highly knowledgeable doctors with regards to TS was at Stanford Childrens Hospital and my parents chose to have him as my physician; so about once a year we would visit there. Dr. Neely is someone I will always remember. He was a great doctor, and someone I look up to still. He was only slightly older than my parents, but he had red hair just like me. And he also had a daughter my age who had red hair. It was sort of a neat similarity & connection to share. Well, I don’t believe that I had much medical care before I was about 5 or 6 except for tests & normal check ups with my endocrinologist. I was definitely not as tall as my peers but it wasn’t too concerning yet. But in first grade, when I was about six we started the discussion of me taking growth hormone during my elementary & adolescence school years when growth should be taking place.
I remember between 1st & 2nd grade visiting Stanford Children’s Hospital with my mom & dad. The nurse who we had known for a while, Louise, was amazing at teaching us how to administer the growth hormone and even let us practice on her (with a saline solution of course). The doctors would figure out, some special way, how much growth hormone I should start out taking…then about every 6 months to a year it would be adjusted and increase slightly based on my growth/that fact that it was was working well/and trying to maximize my growth plates still being open and this being a critical time for my body to grow to a normal size. I remember going for this doctors visit too where I would start taking growth hormones, and the doctors wanted an x-ray of my entire body to see my bones (etc) before I started growth hormones. It was the summer going into 2nd grade and I had just gotten my ears pierced about a week before. This was a huge deal in my family because the Ehrhorn girls had a rule (to please my grandpa) that we had to wait until we finished 1st grade to get our ears pierced. I remember being worried about having the holes from the piercings close so I didn’t take them out, and in my x-ray the bones are white (as normal) and there are black dots on my ears where my earrings are. I’ve also had to have several echocardiograms to monitor my heart and make sure that everything is still going great with it (which it is) and I’ve never had any problems with it…no problems exercising, functioning normally, etc. My mom and/or dad & I would go up to Stanford about once a year for routine check ups and to update my growth hormone regimen. I would look forward to our yearly or bi-yearly trips with just me and the parents. It really made me feel special and is something I hold dearly to still 🙂 Very early on, my parents made the decision that we would only tell our family about me having TS. It was difficult to keep having to take growth hormone replacement a secret; I still can’t decide what I would have done as a parent. Because it is a whole heck of a lot of explaining to do to elementary school aged friends that could go badly. Anyway, I also remember when I was about in 4th or 5th grade I started to give myself growth hormones all on my own. That was a big deal. And it helped my parents out a lot. I would only have to take it once a day, but we decided to do it in the evening. This wasn’t always easy to manage if I had a sleepover or if my parents were going out and we had a babysitter. When my parents were still having to give me the growth hormones themselves, sometimes they wouldn’t get to it in time before the babysitter got to the house so they would have to remember when they got home that evening before they went to bed. The tricky part to that is that I would 99% of the time be asleep and they would have to give me growth hormone in my thigh. I have always been such a sound sleeper that I never (ever) remember waking up to them maneuvering me to give me the growth hormone. But several times they would tell me that I would talk in my sleep and say things like "ouch, that hurts" or something to that effect. Sounds about right 🙂
When I was 15 years old & a sophomore in high school I had one last x-ray of one of my growth plates. It was almost closed, so after a few more months of taking growth hormones I didn’t need to anymore. I grew to be 5′ and 3/4” and am in the top 90-95% in height for girls with TS. Along the way, I’ve also had to take hormone replacement in order to jump-start puberty (which is the case with all girls who have TS). When I was 17 & a senior in high school, I got word about a TS camp that was being held in Colorado the summer after I would be graduating. I had never met anyone else who had TS (at least that we were both aware of) and thought it would be an absolutely amazing experience to meet about 50-60 girls who have TS, as well as have camp counselors who have TS. It was am amazing experience to meet all these wonderful girls. I’ve made friendships that I know will last a lifetime. In addition to all that, we got to stay at Colorado State University for a week, horseback ride everyday for a week, white water raft, swim etc. There was a wide range of girls with TS there, from 11 years old to girls in the mid twenties. But on the other hand, it was saddening to see some of the problems that other girls were born with that I was somehow fortunate enough not to have. And some girls had just found out a few years prior that they had TS and any medical treatment to get growth hormone treatment etc would be helpful but not as beneficial and intuitive as it was for me since I started at such a young and ideal age. This just made me even more passionate about going into the medical field as it was the summer going into college as a bio major. I wanted to (and still do) be an advocate for girls with TS & their families who do not have the resources or financial ability to seek the best medical treatment to overcome some of the obstacles that come with having TS.
I am so fortunate beyond belief for having absolutely amazing parents who sought the best for me, and having a supportive family behind them. I know that there have been many personal, financial and many other sacrifices made in order to get all the care that has helped me tremendously. It’s because of them that I am so motivated, strong, and can handle the hard things in life. They’ve taught me from example that it’s not about falling but rather how you pick yourself up…and that in order to make the best of things, to be proactive, optimistic and move forward in life in tough situations. And, the outstanding and knowledgeable doctors and nurses that have been consistent in my life truly have been inspirational. I have always had the mindset that I am the way that I am for a reason. Brittani blogs at The Nanny Diaries.