As part of its monthly My Story series, the Turner Syndrome Foundation (TSF) highlights individuals with Turner Syndrome (TS) and their parents/caregivers. This month, we present the story of two women, Katelynne and Susan, who were both diagnosed later than normal. While their stories are different, they share the challenges of late diagnosis and finding care as an adult patient with TS.
Note: As always, everyone’s journey with TS is different; these are only two women’s accounts. This post is not meant to be a replacement for professional medical advice. Please consult with your medical providers for guidance regarding your medical issues and appropriate treatments.
“It is evident from my story that there is a huge need for more TS awareness and research, especially regarding care and treatments for adult patients.”Katelynne, 30-year-old woman with TS
I am 30-year-old-woman with TS, diagnosed at the age of 22. I live in New Jersey with my sweet bunny, Benny. I am currently a Registered Behavior Technician (RBT) and love working with kids as unique as I am. Being considered unique myself, I can give to them in a personal way. I recently completed my Master’s degree and am waiting to take my exams to become a Board-Certified Behavior Analyst (BCBA). I grew up the oldest of seven siblings–four sisters and three brothers, all of whom are 6′ or taller. Then there’s me–all of 5’2”; it’s quite a funny sight.
I was homeschooled from second grade on. When I was younger, my doctors noted that I had bowed legs, and prescribed corrective shoe insoles. I had some help with math, as I initially found it hard to understand. I wore braces and headgear for several years. Otherwise, I was a straight-A student and always excelled in school. I grew at the same rate as most kids–even my sister who was close in age–until around 12 years old. In my teens, I was noticeably shorter than my peers. I went through normal puberty and started my menstrual cycle at 12, like a lot of girls. And I have always been a “curvy” girl for my size, so I did not fit the typical TS mold.
College and the Onset of Symptoms
When I was almost 20 and in college, I started having gastrointestinal GI issues and bloating. I would get really nauseous and sick if I ate wheat or dairy. I had lots of hives, and my face was really red, irritated, and broken out. I thought I had allergies and was stressed from school. I went to an allergist to get tests, which came back negative. My doctor told me I was fine and was being “overly dramatic.” He even said to continue eating the foods I was having issues with. I adjusted my diet myself with a nutritionist and felt better for a while, but the break-outs and hives kept happening periodically.
A year or so later, my period stopped, and I started having issues controlling my bladder, which led to obvious embarrassment and lots of Depends and pads. I also had significant joint pain. So I went to the doctor, and they essentially brushed me off as “being a woman,” said it was just menstrual issues, and prescribed birth control to balance my hormones. This only made things worse. I went back and forth for a while with the doctor and eventually demanded they do additional testing, because something was not right. My whole body was not happy and felt horrible.
After some debate, my doctors consented to blood work with genetic testing. The results showed I had mosaic TS and that my hormone levels were lower than the average 80-year-old woman (I was 22). I received the news in a rather negative way. My doctor’s first words were along the lines of “I don’t know how you feel about having kids, but you have Turner Syndrome and likely can’t have them. But if you have any questions, let me know. Sorry again.” They referred me to a geneticist and an endocrinologist. Since then, I have been on estrogen-replacement therapy, which has had some side effects itself. And it was not significantly helpful at first, as I still did not have a regular menstrual cycle and had bad mood swings, depending on which ones I took. We have tried 10 different types of estrogen replacement. I still deal with the occasional hives and GI issues.
Challenges of Being an Adult with TS
As an adult, I have had difficulty getting doctors to understand TS and that autoimmune issues are commonly related. I have seen three pain doctors about joint issues and was told that there is nothing in the literature about TS and pain, and they can’t help me. However, my bone scans show my bones are weak and appear older than they should. One doctor wants to treat me but can’t, and the other can treat me but doesn’t want to. So I have started using homeopathic remedies for the pain, which has helped some. I currently see a urologist, and they have prescribed medication to help me control my bladder. I have also been to cardiologist, and all appears normal.
Overall, it has been hard to get help, and most doctors say that, at my age, there is nothing they can do other than hormone therapy. In general, they don’t know much about TS. It is evident from my story that there is a huge need for more TS awareness and research, especially regarding care and treatments for adult patients.
“The biggest lesson I have learned over the years is the importance of self-advocacy. You have to ask questions and push your doctors to learn more about TS.”Susan Herman, 51-year-old TSF volunteer and woman with TS
I am a 51-year-old woman living with TS, diagnosed at the age of 19. TS has affected my life in many ways, including having several associated medical conditions. Nonetheless, I was have been successful academically and professionally. I volunteer for TSF as a blog post editor and translator, which is deeply satisfying. It has only been in the past several months that I have been open with my diagnosis with people close to me (and now the public). I was 50 years old before I talked to another woman with TS, and it has been incredible to connect with others with similar experiences through TSF and other forums.
As a child, I was always tiny and much shorter than my peers. This did not bother me too much in school, except that people would always treat me as if I were younger than I was. In actuality, I was always older than my classmates, because of when my birthday fell and when I was allowed to start kindergarten. I had chronic ear infections, mild scoliosis, and strabismus (“lazy eye”) as a child, none of which were ever treated, and all of which were probably related to my as-yet-undiagnosed TS.
I was very studious and loved school, excelling in verbal and language skills. I did go to speech therapy for a couple of years because of my hearing problems. Math was always very challenging for me, especially as I got older. In middle school, I fell in love with foreign languages, particularly Spanish. Living in Tucson at the time, I was immersed in Mexican-American culture and Mexican Spanish, which I loved. When I was in high school, I continued studying Spanish and was lucky enough to spend my junior year abroad as an exchange student in the Canary Islands, Spain, which was a life-changing experience.
Physically, I did not develop normally, and I was always different from my peers. I was never one of the “popular kids” but had a small group of close friends. Still, I never totally felt like I fit in. Not getting curves and starting my menstrual cycle like my peers was embarrassing and isolating. But I focused on my schoolwork and was always very successful in that area. I decided to stay in Tucson and attend the University of Arizona, where I received a Bachelor of Arts degree in Spanish and political science and a Master of Arts Degree in applied Spanish linguistics.
College and Diagnosis
When I was 19, I got a referral to the genetics department at the University of Arizona Medical Center. I knew that something was wrong, as I still had not started my menstrual cycle, but part of me didn’t want to hear the bad news. I had flown under the radar for so many years; I asked myself why it wasn’t obvious to my doctors that something was amiss. Finally, I was diagnosed with mosaic TS, with some cells having an unidentified marker. They sent my blood sample to the University of Florida in Gainesville for further testing, to ensure that the marker was not a partial Y chromosome, which can cause further complications (it was not). I was put on hormone replacement, but not much other follow-up was done.
When I was first diagnosed, I was shocked and confused. The biggest thought in my mind was that I would likely not be able to have children. How would my future partner respond to that news? How would that affect my future relationships? As a young adult, I couldn’t shake the feeling that something had been “taken” from me. I did a lot of research (which was much less abundant back in 1989), trying to learn as much as I could so I would know what to expect. But I still felt alone and ashamed to disclose my diagnosis. Now, after several decades, I finally feel comfortable disclosing my diagnosis; it is like lifting a giant weight off my shoulders. I am married to a wonderful man who is very supportive and understanding.
Medical Challenges as an Adult
As I got older, some of the issues associated with TS developed or become more prominent. My hearing worsened over the years. A couple of years ago, I finally gave in and got hearing aids, which has improved my life greatly. My strabismus has gotten worse, but I’m not sure I want to go through the surgery to correct it. About 11 years ago, I had a cardiomyopathy and associated arterial blood clot in my left leg. Luckily, I had an excellent surgeon here in the Baltimore area who fixed it, and I have done remarkably well since then. I also have diabetes and hypothyroidism, which are controlled by medication.
Having mosaic TS, I do not have a lot of the typical physical characteristics of someone with TS. I ended up being 5’4″, which is well above average, so there’s that! Over the years, I realized that I did not really want children, and I have been married to a wonderful man for 13 years who is of the same mindset. We enjoy our three cats, quiet house, and many nieces and nephews (even grands). I ended up pursuing my love of language and became a professional linguist (Spanish and Portuguese), language instructor, and editor for the Federal Government.
The biggest lesson I have learned over the years is the importance of self-advocacy. You have to ask questions and push your doctors to learn more about TS. I have discussed my research with my doctors and have even printed out studies for them. Most of have been very open to learning more, but it is surprising how many in the medical field are still not that familiar with the condition. So I have learned to ask all the questions, request specific medical tests (like the cardiac MRI I just had which turned out fine), and help them put the pieces together.
I recently had a consultation with the genetics department at Johns Hopkins University to make sure that I am on track and get all the necessary follow-up treatment as an adult. I will making an appointment with their bone health center in the near future to have my bone density checked. And I have regular follow-ups with my cardiologist, vascular surgeon, and gastroenterologist to monitor the issues discussed above.
Advocacy for Earlier Diagnosis
As noted in the two stories above, late diagnosis of TS can cause many challenges. It is encouraging that diagnosis is happening earlier now, with genetic testing being made available to pregnant women. There are even women involved with TSF who were diagnosed in utero, which is fantastic. Early diagnosis allows TS patients to take advantage of growth hormone therapy (GHT) and other treatments for their medical, psychological, and learning issues. TSF is committed to encouraging research to improve the lives of patients with TS and support parents and caregivers. With the advocacy of TSF and other organizations, we will reach our goal of increasing awareness and making earlier diagnosis a reality!
Written by Katelynne, a woman with TS, and Susan Herman, a woman with TS and volunteer blog post editor and translator for TSF.
External sources to learn more about TS diagnosis:
- Genetic and Rare Diseases Information Center (GARD)
- Mayo Clinic
- NIH National Human Genome Research Institute
- National Organization for Rare Diseases (NORD)