Turner Syndrome – Twenty Years in Review

Turner Syndrome -Twenty Years in Review

Twenty years ago, when Kasie was born, I wrote a pregnancy and baby diary for Pregnancy Today. It was my first PAID writing gig.  I think they gave me twenty dollars and a picture frame for two years of weekly posts.  Now that I’ve been writing full-time for three years, I think that level of income is about average pay! 

Anyway, those diaries are no longer up on their website, but in a rare moment of present-mindedness, I printed them out and put them in a binder for Kasie. For those of you who think the internet is forever, I warn you, it’s not if you’re a writer. Your words can and will be discarded. Of course, there is always the Wayback machine, so don’t get too comfortable.

Kasie was diagnosed with Turner Syndrome on the day of her birth. We had no prior warning that there was anything going on with her up to that point. I was in my mid-twenties at the time, full of expectation and high hopes for our life with our new daughter.

She was born in July in the year 2000, which sounds very recent until you do the math and realize it was TWENTY YEARS AGO.  This means that our hospital room had a TV, and I had a cell phone, but cell phones didn’t have the ability to TEXT (I didn’t send or receive my first text until maybe 2007), or surf the internet.  This was before the Blackberry and wifi. 

So, when your brand-new baby daughter pops out of you after a dreadful 16-hour labor, and the nurses go silent, a feeling of fear overcomes you and you wonder what it is that everyone else in the room knows but is not telling you…and you are not able to Google (except that Google didn’t exist then, either) her symptoms until you go home three days later.

First, it was a swelling on the top of her foot that just didn’t seem right. The obstetrician checked it out and thought that maybe the cord was just wrapped around her foot and that it would go down after a few hours. 

Then it was all this extra skin at the back of her sweet little newborn neck.  It looked like webbing from the front, and she looked kind of like a Shar-Pei from the back. All concerning to the nurses who’ve seen enough alien-looking newborns brought into this world to know the difference between an ugly, smoosh-faced, I’ve-just-squeezed-through-a-tiny-birth-canal look, and proof of a congenital abnormality.

I knew, too. I mean, after they told me she was healthy, and cleaned her up a bit, and handed her to me, I opened the blanket and checked her out. I saw the foot and the neck. I knew they were problematic. I’d held many babies in my lifetime waiting for the day when someone would hand me my very own miracle. And I knew something was amiss…something was not like the others.  But I didn’t care. I looked at those HUGE blue eyes blinking at me and I could not get enough.  I instantly loved her more than I loved myself. And I was instantly SO TERRIFIED for her and whatever was causing these physical traits to appear on her body. Surely her body was telling us something that we needed to know. 

From the birth story I shared on the now-defunct Pregnancytoday.com,

“I watched in the mirror as my daughter’s head came out of my body and I put my hand down to touch her head was warm and fuzzy and I can’t think of a better feeling. Then, with one more push, her body was born, and she started screaming. Carl cut the cord and the doctor put her on my chest. I can’t think of anything I’ve ever seen that was more beautiful. I will never forget the moment that I first stared into her huge blue eyes. She seemed so perfect, and I couldn’t believe I made her! I kept saying, ‘She’s so pretty!’”

I was so worried about her that night.  My parents went home, and Kasie’s dad slept on the couch in the post-partum room. His snoring provided a timestamp for Kasie’s first few hours as I sat in the dark, worrying about my baby.

The nurses took her for “observation,” and they told me to sleep. Were any of them mothers? Didn’t they know I wouldn’t be sleeping until I knew the truth about my daughter?

Finally, after incessant begging, they wheeled her into my room, swaddled like a little burrito in a clear plastic crib.  “Give her to me,” I said. 

I held her in my arms and looked at her face in the dark. I could see the outline of her eyes and knew they were closed. She was sleeping.  I stared at her for five hours, then six. I imagined her foot staying the same shape for the rest of her life. Her not being able to walk. Her on crutches or a wheelchair permanently. 

I thought, okay, she’ll be disabled, but I’ll have her. She’ll still be my kid and I’ll still have her.

I was scared for the unknown future that was ahead of us. The laughs, the looks, the challenges. All the uncertainty tied my stomach in knots.

At around five or six in the morning, our pediatrician, Dr. Dudley came into the room. I’ll never forget her face…the first one I saw after my hours of quiet desperation, staring at Kasie’s sleeping face. 

She had been told by the nurses, I guess. Or maybe the pediatricians receive a report or a phone call.  I don’t recall her even examining Kasie, but I’m sure she did.  She said matter-of-factly, “Kasie has Turner Syndrome. It’s no big deal, nothing to worry about. I have a patient with it. She won’t have kids; she’ll be a little short.” (As an adult, Kasie is either the same height or taller than Dr. Dudley, something that the three of us joke about now.)

I felt as if my life had been ended.

MY expectations of my daughter’s life and my life with her had been RUINED. 

RUINED.

She wouldn’t have kids. I wouldn’t be a grandma? Kasie wouldn’t be able to enjoy the same dreams and aspirations that I did?

“We’ll run a blood test to see, and you’ll know in several days.”  Dr. Dudley smiled and offered an attitude of NON-concern.

I was more than a little bit irritated.  How could she drop this bomb and then leave like it was no big deal? (Hindsight: I value how Dr. Dudley presented Kasie’s Turner Syndrome like an afterthought. As an experienced physician, she likely knew what the other doctors would say. She presented it as a speedbump and not a roadblock. She had the valuable perspective that I couldn’t have had as a brand new mom.)

I struggled with that for months. 

After Dr. Dudley left, a string of physicians, all whose names really don’t matter because I don’t remember and they probably don’t remember her, came to see Kasie. We never saw them again.

One said, “She may have an IQ of 60.”

Another showed us a photo of a little girl in her underwear with a black bar across her eyes.  I don’t know how any kid can not look scary given that setting.  So, we were scared, although now I cannot remember what trait scared us the most.  The webbed neck? The turned out elbows?  They don’t seem scary now, but they were then.

So many doctors that day and the next came in and out of our room. Kasie was a box to be checked, an echocardiogram, a hearing test, an ultrasound of her kidneys, bloodwork.

And we were all stressed. Each of us took turns crying. Mourning for the child we had expected and not received.

And in recollecting it all, I wonder how Kasie felt?

She had deserved a grand welcoming, and instead, she got sadness, loss, worry and despair.

Fast Forward Twenty Years and I wonder why I couldn’t have had a better reaction?  I guess it was a mixture of immaturity and just plain inexperience. My first time being a mother, my first time receiving the gift of a child with differences.  I don’t know.  But in hindsight, and for other parents who may have just received new diagnoses for their children, I want to encourage you. 

IT GETS A LOT BETTER.

AND A LOT WORSE.

But mostly better. I promise.

Turner Syndrome: The early years.

Kasie’s early years were very challenging. Probably not so much because of the Turner Syndrome, but because of the Autism that was yet to be diagnosed. She cried. And cried. And cried. As an inexperienced young mother, when she cried, I fed her. And overfed her, and probably irritated her sensory system with too much talking, singing, jiggling and feeding.

In hindsight, she needed to be wrapped up tight in a blanket and left alone in a dark room to soothe herself. Because that’s what she needs now when she’s overwhelmed. A completely dark room, a cool breeze and complete quiet. 

But back then, we thought we would be committing nothing short of parental alienation by leaving her alone in a quiet room, so we cuddled, rocked, sung and cooed.

By her first year, I knew there was something different about my daughter. She was an early talker. Her first word was ball (not Daddy, although she said that quickly and often throughout her life).

At birthday parties and playdates, she would seek out an empty room or corner, a stack of books and quiet. She loved her friends but didn’t seem to desire to play with them.

Hindsight offers a valuable perspective, but in the thick of those early months, we knew but didn’t know, and our physicians were equally in the dark.

At around one year of age, we joined a clinical trial for growth hormones, and Kasie began getting an injection every night.  She hated it, didn’t understand it and had to be restrained for it.  Her treat after, a mini Oreo, was the highlight of her evening.

The ear infections began in earnest around this time. She would have raging fevers over 103 degrees, requiring injections and many tests. The months felt like they were going by slowly like molasses and at lightning speed at the same time.

She had probably six or eight sets of ear tubes in her lifetime, I lost count.

She hit her milestones on time, but on the late end of normal, but by age three, as her mother, I knew something was different in comparison to the other kids.

When she was between the ages of three and four, she TAUGHT HERSELF to read by reading the names of luxury cars (that’s my girl) while in traffic.

She was so bright and energetic; it was difficult to get anyone to hear me when I suggested that there might be an issue.  I enrolled her in a great preschool and the teachers were so good, whatever issues or difficulties she had were addressed through extra attention.

On the first day of Kindergarten at a local private school, I received a call.  They asked that I come to see the principal. I was told that my daughter had no spot at the school because they could not manage her special needs.

It was one of the first of many blows to my fantasy of how my daughter’s educational career would be. No private school would take her. Even later in her career (in high school) we were refused entry into a private school for children with autism…because her specific disability does not fit the mold. 

I took her to public school, resigned that the opportunities I had dreamed of for my child were gone.  The first day, I was told by the school counselor that Kasie needed to be in the class for children with special needs. I mourned for days, maybe weeks.  My daughter is in the special needs class. My daughter rides the “short bus,” (I insensitively used this as an insult before I was blessed with a child with special needs) my daughter will forever be discounted by others as someone who is not as good as the other kids.

Those were my thoughts. 

I knew she was bright. I knew she was enough. I knew she was magic. But everyone else couldn’t see what I could see.  Or so I thought.

I was so wrong.  That special class, with a teacher that I’m still friends with on Facebook, was the BEST place for my sweet child.  She was able to excel at subjects that she was good at, and get extra help in the subjects she needed the assistance in.  She was integrated into the regular classroom, and by the third grade, she was in a regular classroom with the other kids and doing well.

I wish I had learned the lesson that sometimes others may know what’s best for my child when I am at a loss.  But I didn’t. Or maybe I did, but I forgot. I had to relearn this lesson several times throughout her childhood.

Turner Syndrome: The Middle School Years.

These years are a blur for me because I became a mother again to two boys, one right after the other. They were hard for Kasie because she lost my undivided attention.  Her father stepped in and became her person, her support, her defender.

I remember these years as difficult because Kasie had trouble pulling up her pants.  They would fall down and show her rear end, and she really had no concern for her public exposure.  It still just doesn’t compute to her.  Why are other people so overly concerned with how I look?  We have to reason with her that even though she doesn’t understand why other people care about whether her hair or teeth are brushed, they still do care, and it is important to appease them so they will accept her.

Try making sense of that.  As a “typical person” I still have trouble making sense of why it is so important to me that other people look, and act like me.  Maybe people with Autism make more sense than people without.

Kasie was diagnosed with NLD (nonverbal learning disability) at around 8 years of age, and then somewhere in middle school, a neuropsychologist gave her the Autism diagnosis.  It never really mattered to us.  We were enjoying a great relationship with the public school system, and I credit them as much as Kasie’s father and myself for where she is as a student today. They invested a great deal of time and effort into Kasie’s education, and in my opinion and that of her late father, they did an excellent job. We never cared the diagnosis, as long as she was getting great services. And she was.

We count many of her educators as our friends now. 

Kasie was bullied one time in middle school. But, a child, a daughter of one of her elementary school teachers, told someone, and the offending child was pulled out, and educated about disabilities. Every moment is a teaching moment.  Especially for the neurotypical.

Turner Syndrome: The High School Years

These were the highest and lowest of years. Her freshman year, Kasie had bad placement — meaning, she wasn’t in an optimal environment for her to learn. I don’t know what the combination was, but it was all bad. Every morning, she wanted to be rocked like a baby and cuddled. We got a call from the school librarian that she had checked out three books on suicide from the school library.

The educators and administrators on her team asked if they could move her to the EBD class at an out of zone school. EBD stands for Emotionally and Behaviorally Disturbed. I now know that it’s where they put kids that don’t fit in all the other boxes the schools have for them.  My feathers ruffled. There is nothing wrong with my daughter. She was an A and B student, now a D and F student and she’s hurting, and they wanted to put her in a class with disturbed children?

I tried to get her into a school for kids with Autism. And they rejected her.

It was really hard to understand at that time that God had a bigger plan for Kasie, and He knew better than I did what was best for her. I will say in her dad’s defense, he never really wanted her to go to that school for kids with Autism, but he gave me the space to figure that out, and I am sure he was secretly glad they rejected her. He knew it wasn’t the right fit.

I’m glad it all worked out the way it did.

Her team at her school asked us to go to the new school and meet the teacher for the EBD program.  Take a tour, and just see what we thought. Carl convinced me to go with an open mind…and the rest is history.

That school, and every teacher and student there, played a role in making Kasie who she is today. They accepted her, supported her and encouraged her.  They were patient when she went through challenges.  They welcomed her at events and in extracurricular activities.

Kasie earned a spot on the basketball team and felt like a star when she scored points during games.

Even now, I get goosebumps remembering those games. Jumping up in my seat, screaming and cheering with the rest of the crowd.  I don’t think her dad and I were the only ones crying in the audience when the entire team worked together with Kasie to set her up for baskets. One of her teammates said to a journalist, “When Kasie scores, we all score.”

And it is true.

She has this unique gift…she shares her victories so generously, you might find yourself forgetting that she was the one who conquered the obstacle, not you.

I’m thankful that her father was able to enjoy those moments, and I wonder if he relived them at night when he was falling asleep like I do.

Those were the glory days. So far.

Turner Syndrome: The College Years.

College has had its ups and downs for sure.  Freshman year, we were surprised at how UNPREPARED Kasie was for the independence needed to survive both personally and academically in college.

But what REALLY surprised me was Kasie’s level of personal commitment and perseverance.  And her maturity.  I basically had a tantrum about halfway through her first semester in college.  I freaked out, and I asked her, “Is this what you REALLY want? Do you REALLY want a degree in Astronomy?”

She said yes.

And I yelled. Yelled. At this sweet little girl, “Then you need to do better, because this is NOT good enough.”

I regret yelling. But maybe it was needed. I don’t know. Because since then, she has been a young woman hell-bent on succeeding at getting her undergraduate degree no matter what.

She studies non-stop. She walks to classes in the rain and sits through them soaking wet without complaint.

Even with the level of disability she has, and sometimes I would say she is pervasively disabled — she surpasses the achievement of neurologically typical students. 

(Note: I know that it sounds bad, me saying that my own daughter is pervasively disabled, but understand it comes from my front-row view of her daily battle to function in the every day world that is easily managed by us neurologically typical, whiney, pampered people.  Kasie, at age 8, scored 9 out of 9 on the diagnostic criteria for NLD.  We were warned that she might be suicidal as a teen, that she might struggle to lead a normal life, that while she was CAPABLE of leading a well-adjusted, happy life, it would not be without challenge.  I would have to say, this neuropsychologist was correct…but most people don’t like to hear the TRUTH of life with a disability, for many reasons, and that’s okay. Kasie is okay with me speaking like this…so I guess that’s all that matters.)

Kasie earned almost a 3.5 GPA in her first two years at college during a time that was not without challenges.

She lost her paternal Grandma.  Then she lost her maternal Great Grandma.  Then only ten days later, she lost her maternal Grandpa, a man she was close to only second to her own father, who she lost almost exactly a year later.  Both unexpectedly.

She was there when her dad died. She found him and called 911. She was level-headed. If there had been a chance that her father’s life could have been saved, she would have saved it.  That’s how great she was that day. She was an absolute HERO.

And then she pushed herself through and finished her classes. Earned that 3.5 and got accepted into her dream school.

Then she spent the summer grieving for an entire childhood gone in the blink of an eye. 

And still she perseveres.

She’s preparing to move to a school almost 5 hours away from home, to take even harder classes while her sensory system struggles to make sense of what trauma has occurred.  While under quarantine. 

And I look back today on her birth and wonder…was it all foreshadowing? How this precious, fragile little thing was born into a life of difficulty… were her challenging early years training for the many obstacles she would have to overcome in life?

The answers to all these questions, her late father, bless his soul, knows now, from where he is.  Kasie and I like to say that he is up on the planet that she hopes to discover, waiting for her to find him.

I’m pretty sure he’s hanging out with her Grandpa and everyone else who ever loved her, even those who’ve never met her.  They are all up there, cheering her on, because they can’t imagine a world or a life without her.  Or maybe they know that life as we know it, might not even exist without people like her. 

People who look different. People who make you uncomfortable because they challenge your norms, bend your rules and make you question everything you knew before met them.

Every day in this world, parents receive prenatal diagnoses of Turner Syndrome or other congenital abnormalities.  Many of them are encouraged to terminate their pregnancies because they are told that these children will have painful and difficult lives. They are told that no life would be better than a life wrought with one challenge after another.

I’m not here to debate that.

But, perhaps Kasie’s life has been filled with challenges to prepare her for what’s to come. A future that is so important, only the toughest and most determined person will be capable. A person surely better than me, better than her late father, grandfather, grandma and all her family combined.

At twenty years old, that’s how I see Kasie.

She looks and acts differently than me. Sometimes I wish I could break through that invisible but palpable wall of disability that makes it difficult for her to understand me and me her.

But I wouldn’t change a single second of her life. Or our lives together.

Because I surely believe that she was magnificently built for an even more magnificent purpose.

Year twenty is the year that we claim that Kasie has more ABILITIES than disabilities.

Happy birthday, Kasie.

I love you to your planet and back. And if I get there before you do, I’ll give your dad a high five for you and tell him you’re on your way to finding him.