Get to know the syndrome that generates elastic skin and hypermobility – 04/21/2023 – Equilíbrio

From a very early age, 28-year-old Sinaria Desideria realized that she was a different child. She was unusually mobile and could do things that many people her age couldn’t.

“I was known as the queen of somersaults. I was always the one who did back somersaults and it was like a circus attraction”, she says in an interview with BBC News Brasil.

Even though she was known for these skills, she constantly suffered from dislocations and sprains, simply by playing with her body. The young woman also had above normal skin elasticity.

Hematomas were also frequent, even without suffering any accident. At that time, her parents did not understand what could happen and were intrigued by the purple spots that appeared on the young woman’s body.

And it was only in 2020, during the pandemic, that she started investigating what she had. After suffering from seizures, Sinaria had to be intubated and spent 20 days in the hospital. “I had eight seizures in a row and was unconscious during that time,” she recalls. The young woman also suffered from leg paralysis, severe pain and fatigue.

After hospitalization, Sinaria started to go after several doctors to investigate what she had and receive a more accurate diagnosis.

Discovery of rare syndrome

Since leaving the hospital, she has seen several specialists. According to the young woman, she even suffered prejudice from the medical profession. “No doctor wants to dig deeper. Some tests are not done or ordered. They kind of abandon you, but I didn’t,” she says.

Because of the pain, she was already seeing orthopedists and decided to look for a rheumatologist to go deeper into her case. Sinaria was also already researching content related to the symptoms she felt and believed to be suffering from a rare condition.

Upon being evaluated by a rheumatology professional, the doctor asked her to put her finger in several places and make different movements. She was referred to a second specialist who was in the area. “I made a crowdfunding, because the evaluation is very expensive. When I got there, the doctor glanced at me and said what I had”, she says.

Sinaria was diagnosed with Ehlers-Danlos syndrome, an inherited genetic condition that is part of a group of disorders that affect the connective tissues that support the skin, bones, blood vessels and many other organs and tissues.

“She said that there is a pattern on the face, a more angelic, thin face that has a symmetry. The doctor also did tests to see if I had sensitized hypermobility and also asked about growing pains, chest pain and if it took me a while to crawl . There she closed my diagnosis”, he recalls.

She claims that after the discovery of the disease, she began to remember the symptoms of her childhood, since since then she had pain, food allergies and skin problems. “I had severe atopic dermatitis. My arms and legs were raw. So I always treated the allergy a lot and every symptom of allergy, asthma and bronchitis, which ended up that the syndrome was a little sideways”, she says.

She also points out that the doctors were negligent with the symptoms and could have provided better care. “When I was little, they never thought I could be a rare patient. I had a pediatrician I went to every month and they didn’t have enough knowledge and information. As an adult, when I was discharged from the hospital, the doctors said I had nothing”, affirm.

Many dislocations throughout life

Due to the syndrome, Sinaria could not do simple everyday activities such as rollerblading, cycling and other activities.

Because of the disease, it was very normal to suffer from dislocations and twists in various body members. “I already broke my tailbone twice. I broke it rollerblading in a silly fall. I broke my knee twice, my ankle. I broke my finger several times,” she says.

She also suffered from several sprains and was always with the help of a sling or some kind of splint. “I was always going to see a doctor. I also had several bruises. But they were very, very tense. They were huge, things that my parents got scared and thought ‘how does she hit her chest and stay like that?’. But it’s not because I hit somewhere, is that the vessels of those who suffer from the syndrome break easily”, he says.

troubled social life

Since adolescence, the young woman says she suffered from signs caused by Ehlers-Danlos syndrome, even without receiving the diagnosis.

“The hardest thing is knowing that you are not like other women. I noticed that since childhood. People with the syndrome get along badly. In childhood it was great, but then I started having problems”, she recalls.

As a teenager, she began to suffer from depression, anxiety and a lot of fatigue. According to the young woman, there was always a different pain in her body and a lot of confusion in her mind.

She suffered from “mental fog”, which makes her ideas and thoughts a bit jumbled, in addition to some memory lapses. “My cognitive function works in a different way. I was always left out of groups because I didn’t understand metaphors and I was hypersensitive to noise. My auditory hypersensitivity was so great that I couldn’t go out on the street alone”, she says.

As an adult, because of the constant fatigue she feels in her body, she often needs the aid of an oxygen tank to breathe better and be more independent. On longer trips, she has also used a wheelchair to help her get around.

She says that she suffered a lot with the social part and, since then, it has worsened. When trying to study psychology, she had to stop in the third year of the course, as going to university was not good for her. The ambient sounds left her shaken and with many crises. “I had a very big sensory crisis. People leaning against me, the smell of food, pencils. I feel a very intense collapse”, she says.

Because of this, she spoke with the person in charge of the graduation, who advised her to look for a specialist to investigate whether she was suffering from any disorder. Sinaria didn’t know it, but she would be diagnosed with autism spectrum disorder. She changed her degree from psychology to pedagogy and started taking classes online.

autism and dreams

It took more than two decades for Sinaria to be diagnosed with autism when she was 24.

“All this limited my life. I was diagnosed with moderate level autism. I really couldn’t do anything because of my anxiety. Today I’m going to see a doctor who specializes in autism”, she highlights.

After starting online pedagogy classes, he managed to do face-to-face internships and had contact, precisely, with severe-level autistic people. “I saw myself in them a lot. I identified with them,” she says.

Because of the disorder and the syndrome, her routine is somewhat limited and things that would be normal often become more difficult to do alone. One of her biggest birthday wishes was to have a scooter, but that was denied due to the risks she could face. Going out to a bar with friends is also complicated by street noise and other external means.

She also has the dream of traveling the world without limitations and, little by little, having a normal life.

My dream has always been to explore new places. Everything related to movement makes me feel very good. The movement of the scooter makes me reach places. All of this exploring new places makes me happy. Not being able to do a lot of those things frustrates me a lot. I believe with certainty that I will still perform”, he concludes.

What is Ehlers-Danlos Syndrome?

Ehlers-Danlos syndrome is an inherited genetic disease that occurs due to mutations in genes involved in the production and synthesis of collagen in our body.

This condition is part of a group of disorders that affect the connective tissues that support the skin, bones, blood vessels and many other organs and tissues in our body. There are several forms of Ehlers-Danlos syndrome and with 13 different types. Each presents specific problems.

“One of the great characteristics of people with the syndrome is the great flexibility and extensibility of the skin. This means that their skin can stretch beyond what is natural and their body is very flexible”, explains Roberto Hirochi Herai, doctor in Genetics and Molecular Biology and postdoctoral fellow in Genetics of Microorganisms, professor at the School of Medicine and Life Sciences at the Pontifical Catholic University of Paraná (PUCPR).

These signs may result in dislocations, which are joint dislocations or subluxations, as well as the appearance of keloids and hernias. There is also a lack of skin elasticity and one of the consequences is the atrophy of that organ.

Considered rare, there is still no exact number of people suffering from the condition in Brazil, but in the world it is estimated that 1 in every 5 thousand people have the disease. “It’s a disease that’s difficult to diagnose, precisely because there are several different types”, says Larissa Hermann, coordinator of the Internal Medicine Residency at the Cajuru University Hospital, in Curitiba (PR).

According to experts, it occurs at a frequency of approximately 75% for girls and 25% for boys. “The prevalence is higher in women than in men”, emphasizes Salmo Raskin, a specialist in pediatrics and genetics and director of Laboratorio Genetika, in Curitiba.

Diagnosis and treatment

The initial diagnosis of Ehlers-Danlos syndrome is predominantly clinical, but must be confirmed by genetic tests that detect most subtypes of the disease.

Skin biopsy can help diagnose the classic types, which are vascular hypermobility. “It is essential to consult a specialist doctor, as there are cases of people with the syndrome who also have autism spectrum disorders, which also makes the diagnosis of Ehlers-Danlos syndrome very difficult”, emphasizes Herai.

As with Sinaria, the complications of the syndrome can lead to depression and anxiety in patients. “Psychological support can be important, as well as the use of painkillers,” says Raskin.

It is still not possible to talk about a cure for the disease, but the treatment is multifactorial. Physical therapy and muscle-strengthening exercises should be performed, especially swimming and hydrogymnastics, which are low-impact exercises. In addition to a follow-up with a specialist doctor who assists and guides in the reduction of injuries.

This text was published here