on the occasion of the celebration of World Turner Syndrome Day, 28 AugustThe federations of Andalusia, Castilla y León, Catalonia and Madrid have come together to collaborate with hospitals and give visibility to the main demands of patients with this disease, whose prevalence is 1 per 2,000/2,500 births.
Every year about 50 or 60 girls are born with this disease, whose biggest symptom is this. short stature Those who do not get treatment, they hardly reach the hospital. 143 cm,
Girls and women often get this disease ovarian problems due to lack of estrogen and testosterone, two hormones that, among other things, affect growth and regulate menstruation. In fact, with most women Turner syndrome They are barren.
Other complications associated with Turner syndrome are heart, bone, thyroid, and even hearing problems. In addition, most symptoms appear during puberty, so many patients have They are not diagnosed until adolescence.
who are affected by this rare disease there may be difficulties in their social relationships Suffering from anxiety and depression and increasing risk of attention deficit hyperactivity disorder,
In an interview with EFesalud, Leticia MariateguiPresident of the Madrid Turner Syndrome Association, and rich trinidadPresident of the Andalusian Turner Syndrome Association, tell us what are the main demands of patients, the possible ways of improvement and the importance of making such a little-known disease visible.
Five main demands of Turner syndrome patients
Research, a foundational pillar for treatment
“Research on our disease is very slow, I know only one or two doctors worldwide who are currently in charge of the research being done. However, we should feel lucky because there are still experts who are interested in learning and clarifying more about the syndrome”, says Leticia Mariategui, president of the Madrid Turner Syndrome Association.
He confirms that a very important part of the investigation is the one that focuses on Psychological and psychosocial aspects.
From the point of view of the correct integration of patients, “it is necessary that this type of research leaves a solid foundation so that girls diagnosed with Turner syndrome can be properly integrated socially”, affirmed the president of the Madrid Association.
Patients with Turner syndrome receive different care depending on the autonomic community in which they live. There are no guidelines or community steps to follow Between the different areas it becomes clear what needs to be done once a diagnosis is received. Various autonomous associations are already working to improve it.
Trinidad explains, “It is necessary to establish some guidelines or norms for all professionals to follow, so that they know how to act, and know whom to refer or put patients in touch with.” Rico, President of the Turner Syndrome Association of Andalusia.
An official national health protocol will guide the family doctor to refer Turner’s patients to specialists at the primary care level.
“Ever since the federation came into existence, we have been developing a protocol, but always at the regional level. And for example, I have managed to approach the Ministry of Health so that they create a protocol at the national level, that is, at the level of all social security, ”concluded Trinidad Rico.
specialized medical care
One of the most pressing demands of patients is to improve medical care. Leticia Mariategui affirms that, many times, doctors do not know the syndrome in depth and therefore many of its symptoms are often confused with those of other pathologies.
“It is very common that many patients who have frequent coughs are told by doctors that it is just an allergy because, despite Turner’s diagnosis, many professionals are unaware that the disease can result in One of them is aortic stenosis”, explains. President of the Madrid Turners Association.
from the associations they claim Checking and revising the most important organs at all stages of the patient’s life.
Trinidad Rico, on the other hand, explains from his personal experience how much more knowledge needs to be spread about Turner syndrome among the community of specialists: “Once, after my fourth ankle operation for osteoarthritis, a rheumatologist told me to stay calm. Because 60% of women suffer from osteoarthritis and osteoporosis. When I closed the door I thought: have those 60% also had four operations on one ankle? Not at all, because it’s not like that”.
Effective treatment and multidisciplinary approach
Improving treatment and quality of life for patients is one of the main ways research should focus.
Simplifying treatment would greatly improve the quality of life of girls and women with this syndrome.
“Treatment of disease often forces women and girls from an early age until puberty to inject themselves for an hour every day. If research can be achieved that this is another less aggressive tannic instead of Puncture, it will improve our quality of life,” he said. Leticia Mariategui.
For his part, the president of the Andalusian Turner Association says that it is necessary to establish more specific treatments to control and deal with the syndrome.
“I can tell you that the treatments are effective because, at least in my case, all my symptoms are under control. However, it is not a disease that has a specific treatment, but we take pills and medicines based on the distortions that do not arise. Therefore, it is a disease with a solid and clear base that continues even without specific treatment”, continues the patient.
“For example, I share pills with my father who suffers from high blood pressure, the difference is that he only takes one and I take two,” explains Trinidad Rico.
better visibility and orientation
Orientation is one of the main demands of families. When a diagnosis of this syndrome is received, there is little information about how to act, what to do and above all, whom to approach for consultation regarding various problems.
“One of our main demands as patients is to be able to get more information and, above all, useful information. Sometimes even professionals don’t give you much information. For example, they told me that I would take hormones and that would cure me and that is not true, ”says the president of the Turner syndrome association in Andalusia.
In addition, patients demand more easy access to certain resources within schools, work environments, etc…
As part of the dissemination work on this disease, the work done by the Andalusian Turner Syndrome Association is key, which is in constant contact with the Andalusian government, and with a team established as a reference center at the Virgen de la Victoria University Clinical Hospital in Málaga. doing. of volunteer medical experts.
In this context, the Madrid Turner Syndrome Association has recently launched a new website for girls and women with Turner syndrome, their families, the medical community and the general public, to gain a better understanding of this genetic disorder.
Other organizations such as Alejandra Salamanca from Castilla y León (ASTA CYL) will organize the IV National and First Ibero-American Congress of Turner Syndrome in Salamanca from 6 to 8 November, and on the other hand, the Catalonia Turner Syndrome Association is also working with this community. To establish a solid network of professionals who provide comprehensive and specialized care and, at the same time, understand the particularities and specific needs of girls and women facing the syndrome.