Throughout the years, the amount of available resources, treatments and educational material about Turner syndrome (TS) has steadily increased. TS is gaining much more attention in the medical field, with new research and more recognition around the world than in the past. The international medical community is finally beginning to grasp the importance of early diagnosis and providing comprehensive treatments to those affected by TS. In this article, we discuss the experiences of some TS patients from around the world–specifically, Brazil, Ecuador, Germany, India, and the Philippines–and what their countries have in place to diagnose and treat TS patients. We will also discuss an interesting international study on using facial analysis to detect TS.
Note: TS is a variable disease and affects every individual differently. Everyone’s experience with TS care will be different, regardless of where they are. Always consult with a specialist regarding your or your loved one’s specific case.
What We Wanted To Know
Our survey about TS care around the world included the following questions:
- What was your experience with TS diagnosis in the countries where you have lived?
- What was your experience with TS treatment in those other countries (availability, thoroughness, cost, etc.)?
- How do you think your experiences with TS diagnosis and treatment in other countries differs from those in the U.S.?
Maria, woman with TS
“It was pretty difficult. Here in Brazil, late diagnosis is common. The average age is 13 years old. Most doctors don’t know what TS is, especially in cities far from the state capitals. My mother had to insist with my pediatrician that there was something suspect about my height, so he referred me to an endocrinologist. And he didn’t know what TS was. When my karyotype results came back, he had to learn what it was.
“After this, my parents decided to take me to an endocrinologist in Brasília, the capital. It was a long journey, and because of this, I started my treatment a year and a half after my diagnose. Another problem was the bureaucracy to get the growth hormone (GH). We have a public health system, and we can get GH for free, but it is an exhausting process.
“Besides the bureaucracy, the GH treatment was pretty expensive. And now that I need hormone replacement therapy (HRT), it is also
expensive. Otherwise, I cannot complain about the availability, because the medicines that I need for my treatment are available in almost every drugstore. Of course, I don’t need special ones, because besides HRT, I just need medicine for my thyroid.
“Now I am being monitored for hearing loss, and I found a good doctor who is evaluating me every year. Appointments and exams are pretty expensive for the ones who don’t have insurance, and sometimes the insurance doesn’t cover special exams.”
Maria Bernarda, woman with TS & physician
“I was diagnosed in Ecuador and had a follow-up in Brazil during a study stay of 2½ years. “Brazil has a Federal Health system for its citizens and residents. I got free care as a graduate medical student under that system, through my medical school (UNIFESP). As a physician myself, it was available in both places (Brazil and Ecuador). My colleagues were informative with me.“
Monica, woman with TS
“[My experience with diagnosis was] very good, once I found support from TSF.” [My treatment was] so-so, because information is lacking.” (translated from Spanish)
Sandy, woman with TS
“[My experience with diagnosis] was good. [The] cost of treatment is very high. I had to bring medicine from the U.S. In the U.S., treatment for TS is more available than in other countries because the medical laboratories are in the U.S.”
Annelie, woman with TS & medical student
“I spent most of my childhood living in Germany and got diagnosed at 12 because of short stature and not entering puberty. What followed was the usual battery of tests. Communication of the diagnosis and open discussion of topics like infertility with physicians was hit-or-miss, depending on how much luck I had with my healthcare team–just like anywhere else, I guess. I personally would have appreciated more extensive information being communicated to me right after diagnosis. As it was, there was a lot of “half-knowledge” and fear.
“Growth hormone treatment was covered by insurance, as is almost all of the testing recommended in the guidelines. The only relevant exceptions are the DEXA scan (bone density measurement) and cardiac MRI, where it’s becoming more difficult to get coverage approved. The cost of HRT is negligible (in Germany). All the testing is readily available if the person with TS takes the time and effort to research which testing to push for and which doctors to see.
“Finding a healthcare provider who is knowledgeable enough to organize all of this for you is only easy in childhood (with pediatric endocrinologists); nevertheless, it is definitely possible in adulthood. German healthcare coverage is second to none.
“Just based on what I have read in Facebook groups, I see one main difference between the U.S. and Germany. NVLD (non-verbal learning disorder), accommodations in the educational system, and cognitive testing all seem to be much more widely discussed in the U.S. than in Germany. And this is definitely a question with no easy answer: How do we communicate those potential problems, and how much focus do we put on them? As a second-year medical student, I’m glad I grew up without any insecurities about my own potential and without any self-fulfilling prophecies.
“On the other hand, I’m thankful for all the resources available for me to inform myself now. And what is or is not helpful, obviously, depends on the individual case. Others have written about the U.S. healthcare system, which also definitely does not make things easier, as you all, sadly, might know all too well.”
Ritu, TSF volunteer
“The biggest obstacle I’ve seen while working in the healthcare field is the lack of awareness and education about TS. A young female patient who came to our hospital with complaints of short stature and delayed puberty was referred and had traveled far from her
town, since that town did not have the resources to help. Education for patients and their parents is important, since individuals can be lost in follow-up after diagnosis.
“Treatment options go hand-in-hand with the lack of awareness. Treatment options are usually growth hormone therapy or estrogen replacement therapy, but patients find it difficult to get help because of financial problems or having little social support.”
Kim, mom of Azariah, 1½-year-old with TS
“We were lucky enough to detect TS when my baby was born. Though we have not yet started [growth hormone treatment], based on information from doctors, it is very costly. Not sure [about the
differences between the Philippines and the U.S.], but I think there are more resources and support groups for TS [in the U.S.]. In [the Philippines], there is no support group or foundation for TS.”
An Interesting International Study on Facial Analysis
One of the main pillars of effective treatment for TS is early diagnosis. As stated above, delayed diagnosis is still a major problem but is slowly improving, due to increased awareness. In a study by Kruska, et al, facial analysis technology was used as a better way to identify TS earlier. In this particular study (see link below), researchers tested the hypothesis that “TS in diverse populations can be differentiated from the general population and Noonan syndrome using facial analysis technology.”
To compare with TS, two groups of people from different parts of the world were used as controls. One group had Noonan syndrome, and another group was unaffected by either syndrome. Noonan syndrome is a genetic disease that causes abnormal development of multiple parts of the body and shares some similar physical characteristics to TS. The most frequent findings were short stature, cubitus valgus (a condition in which the forearm is angled out away from the body when the arm is fully extended), low posterior hairline, and small mandible (lower jawbone).
At the end of the facial analysis technology evaluations, the study showed that “facial analysis technology is accurate in discriminating individuals with TS from healthy controls and individuals with Noonan syndrome” and has “excellent ability to classify TS.” The increased attention this data and other studies bring to TS is encouraging and provides hope for earlier treatment of individuals with the condition.
You Can Contribute to TS Research!
You can contribute to TS research in two important ways. Sign up for the TSF Patient or Parent/Caregiver Registry and continually update your information. This allows us to assess the changing needs across your lifespan to continue offering personalized support. The registry provides peer support, access to resources, and opportunities to participate in research studies. Your personal data will remain confidential.
You can also register for the Turner Syndrome Research eXchange Patient Insights Network (TSRX PIN), a collaboration with Invitae. We invite all TS patients to provide medical information to the PIN to help the global community – patients, families, researchers, clinicians, and pharmaceutical companies – learn more about TS.
When you join the Patient or Parent/Caregiver Registry or TSRX PIN, you’ll be helping TSF and researchers gain a deeper understanding of TS. Patients’ experiences with TS provides vital insight into the treatments, care options, and progression of TS. For a complex condition like TS, the patient’s voice is a crucial part of research.
Turner Syndrome in Diverse Populations, Kruszka, et al, National Library of Medicine/NIH
Written by Ritu Kasarapu, volunteer blog writer. Edited by Susan Herman, TSF Blog Coordinator, and Kayla Ganger, TSF Professional Member Liaison. Designed by Susan Herman.
© Turner Syndrome Foundation, 2023