Turner Syndrome Foundation
The Turner Syndrome Foundation’s (TSF) My Story blog series highlights the experiences of individuals, families, and caregivers impacted by Turner Syndrome (TS). Their stories have an incredible ability to inspire others and make a positive impact on the TS community. Unfortunately, these stories are sometimes not without heartbreak. This month, we honor the memory of an amazing young woman named Kristen, as written by her mother Sue-Ellen. In Kristen’s memory, Sue-Ellen published a book titled If I Was Tall. It was originally a story Kristen wrote and illustrated when she was 10 years old.
Note: This is one person’s story. Everyone’s experience with TS is unique. Please consult with your medical team regarding your individual situation.
Kristen’s Early Life
Our daughter, Kristen, was born August 7, 1984. She was always reaching for the next thing to do, the next step to take in the world. She wanted to grasp it all. At her pediatric visits, she was always in the lowest percentile for height, which eventually began to plateau on the charts. Her pediatricians never mentioned there may be an issue like TS, nor did they seem concerned about her short stature. Kristen was inevitably the shortest child in any group. It was so glaring in class and sports team pictures, standing with the children’s choir in church, and in any other setting with children her age.
Kristen as a baby
Diagnosis
It wasn’t until we moved to Cincinnati, Ohio in 1991 that Kristen’s new pediatrician raised red flags about Kristen’s height. Her doctor ordered genetic testing and confirmed the TS diagnosis. Kristen was almost seven years old at the time. As far as external manifestations of TS, on a scale from zero to 10, Kristen was close to zero. She had short stature, and her fingernails were ever-so-slightly upturned, but there were no other outward physical signs. Internally, her ovaries were non-functional, and she had a bicuspid aortic valve.
Kristen’s diagnosis was a shock to our entire family. She was so happy, extremely active, and just embraced life every single day. In one phone call, our lives were turned upside down. As parents do, we held so many hopes and dreams for Kristen and her younger brother, Michael. But after being diagnosed with TS, we didn’t know what Kristen’s future would hold.
We were told Kristen would have, at best, a 1% chance of ever becoming pregnant and, without intervention, would reach a maximum height of 4’6” to 4’8”. We received her diagnosis when I was in the midst of chemotherapy for breast cancer. It was more devastating news, but our focus became researching TS, educating ourselves, and finding the next steps to take for Kristen.
Accepting the Diagnosis
Telling our two young children I had breast cancer at a level they could understand was difficult enough, and now we had to explain TS. We wanted to be honest with Kristen about TS and focused mainly on the short stature at first. Initially, she did not embrace the diagnosis. A diagnosis is difficult to hear at any age, but especially when you are a child, don’t understand, and don’t want to be different.
We explained the consequences of being short by walking Kristen through life experiences she could relate to or look forward to one day, like driving. We explained that growth hormone would help her reach a more average height. In the end, growth hormone worked well for Kristen; she grew to a beautiful 5’2”.
Coping with Medical Issues
Bicuspid Aortic Valve
Because of Kristen’s bicuspid aortic valve, we made periodic visits to the cardiologist. During one of her visits, when she was nine, the doctor told her more about TS than we had yet revealed. She told her she could not have children and that she would most likely need a valve replacement later in life. Needless to say, we left his office with Kristen in hysterics. She loved little babies and was devastated that she could never be a mom herself.
As we drove home, I explained to her that there were options. She cried even harder at the mention of adoption. I reminded her that Frankie and Jon, her brother Michael’s best friends, were both adopted, and their parents loved them so very much. And I added we had adopted Koa, our chocolate lab, and look how much we loved her! But the thought of needing heart surgery one day really scared her.
Kristen’s bicuspid aortic valve only had two of the usual three parts called leaflets. The job of the aortic valve between the left ventricle and aorta (the largest artery in the heart) is to pump blood through the heart’s four chambers and out to the body. However, because a bicuspid aortic valve only has two leaflets, it can be leaky. Sometimes bicuspid aortic valves might allow blood to flow back into the heart rather than out to the body. As a result, the left side of the heart must work much harder than it usually needs to.
The two leaflets in a bicuspid aortic valve might be thicker and harder than normal, as well, causing aortic stenosis, meaning the valve has a harder time opening when the heart squeezes. The cause of bicuspid aortic valve is unknown, but the valve does not grow normally prior to birth. There is an increased risk of this condition in individuals with TS, so early and regular cardiac monitoring is important
Important Facts About Bicuspid Aortic Valve & Aortic Dissection
The incidence of aortic dissection is significantly increased in individuals with TS at all ages, highest during young adult years and in pregnancy. Pediatric patients with dissection have known congenital heart defects (CHD), but adults often have aortic valve and arch abnormalities detected only by screening cardiac magnetic resonance (MRI).
Bicuspid aortic valve is equally prevalent (20-30%) in children and adults and does not seem to rapidly worsen. Cardiovascular anomalies and risk for aortic dissection in TS are strongly linked to a history of fetal lymphedema (swelling), evidenced by the presence of neck webbing and shield (broad) chest.
The risk for acute aortic dissection is increased more than 100-fold in young and middle-aged women with TS. Monitoring frequency and treatment modalities should be discussed with a cardiologist upon diagnosis.
Crohn's Disease
In high school, Kristen began to have gastrointestinal issues. A colonoscopy confirmed a diagnosis of Crohn’s disease. As we learned later, there can be an association between TS and Crohn’s. Through trial and error and several bouts of pancreatitis, Remicade proved to be a miracle drug for Kristen.
Staying Strong
Kristen excelled in school, played sports, and was a figure skater from elementary through high school. She also loved to dance and sing. She attended American University in Washington, D.C. and spent a semester abroad in London, with many side trips throughout Europe. Wherever she was, I made sure to she had a connection to a gastroenterologist and hospital nearby. Kristen graduated Cum Laude a semester early from American, with a degree in international business. She went on to work in D.C. for two years; Austin, Texas for another two; and then, in 2010, returned to Scottsdale, Arizona, where we had moved when Kristen was in eighth grade.
Through all of her adversity, Kristen continued to love life and always had a smile on her face. She was promoted ahead of schedule at work, purchased her first home in 2011, drove her dream car, traveled, and just continued to embrace life. But most of all, she cherished time with her family and friends.
Heartbreak Beyond Compare
If I Was Tall
When Kristen passed away, we couldn’t stand to lose any more of her. So we kept all of her things and boxed up her whole life in plastic bins. We even bought her house and car. As the years passed, I was able to start going through the bins, one or two at a time.
While going through the one containing her elementary school papers last year, I came across a story that Kristen had written in 1994. She had titled it “If I Was Tall.” When I read it, I laughed and cried at her words and illustrations. It was honest and uplifting, with a moral as old as time: Always be and love yourself, just the way you are.
It struck me that other children who might be struggling with being short could benefit from Kristen’s story. I reached out to several publishers. The rest, as they say, is history. The story Kristen had written as a young girl was published in a book in August 2021. The words and illustrations–even the colors used in If I Was Tall–were all taken from her original story.
I’ve been asked where the name of the main character, Leigh Kay, came from. I wish I could ask Kristen now, but my best guess is that she chose “Leigh” because it was her middle name and “Kay” because “K” was the first letter of her first name.
Continuing Kristen's Legacy
Today, Sue-Ellen is working to create a website (IfIWasTall.com) for information about Kristen’s book. Eventually there will be a link to a non-profit for children in Kristen’s memory. Proceeds from the book will be directed to help children with TS, along with links to information on TS and other resources for dealing with short stature.
Kristen continues to make a positive impact on young girls all around the world with her story, If I Was Tall. Kristen’s family and friends miss her dearly, but they will always remember her for her bravery, kind spirit, and joy!
We can all learn from Kristen’s courageous and joyful spirit, as well as from her medical story. TSF extends a heartfelt thank you to Sue-Ellen and the rest of Kristen’s family for sharing her story.
Written by Sue-Ellen Beatty, Kristen’s mom, and Canon Pham, volunteer blog writer. Edited by Susan Herman, TSF Blog Coordinator. Designed by Jasmine Persaud, TSF volunteer blog designer.
© Turner Syndrome Foundation, 2022
Beautiful story about a beautiful young woman. I so sorry for your loss and so proud of you for sharing the love of your daughter. My beautiful very young granddaughter has TS.