Fernanda Martinez, 22, suffers from a rare disease that affects the production of collagen in her body. She also suffers from many other conditions, but that has not made her lose her sense of humor.
“And what happens if you eat something?” These are questions like these that Fernanda Martinez, a 22-year-old Brazilian, has to deal with daily on her social networks.
“Life risk,” he replies, while explaining the diagnoses of digestive tract paralysis and intestinal failure that caused him to stop “eating” more than two years ago.
Martinez suffers from Ehlers-Danlos syndrome, a genetic condition that causes abnormalities in the collagen production in the body and can affect the digestive system.
When he stopped digesting properly, in 2018, he began receiving food directly through a tube.
And, since October 2019, as the absorption of food also began to be insufficient, the young woman had to start the so-called parenteral nutrition, which is when the nutrients are administered through the vein.
“It is as if we externally digest food and create a serum with amino acids, proteins, lipids, fats, glucose and we inject it directly into a thicker vein”, explains nutritionist Pâmela Finkler Richa, who accompanies the young woman weekly.
But Fernanda’s explanations don’t stop there. The unilateral deafness, he angioanddema hereditary, the thyroid cancer, the aquagenic urticaria and the fibromyalgia are other of the diagnoses that she explains to her more than 400,000 followers on social networks, between her personal profiles and her project “Living with Rare Diseases”.
His videos with good humor and messages of optimism and encouragement for those who also face rare diseases have more than 1 million visits on TikTok, the network where he is most successful.
“Curiosity doesn’t bother me and I get a lot of messages both of support and from people who reflect on their own problems when they see the way I deal with things.”
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Never mind losing something that from our existence was essential – the ability to chew, swallow, pass bem após as refeições, absorb, keep or body nourished and saudável. A paralysis of the digestive treatment and intestinal failure, despite two notices, interference in each song of my body and gives my life. There is a coffee rotation, food that does not exist anymore, a hospital that was installed inside my house, there are two appliances connected to my company, and every hour a totally random problem of body hair due to an imbalance of nutrients … Feeling of frustration that you can’t do anything else to do. Check out the World Day of Digestive Health, so you can take care of your good health. Letting go of having a bad time with refeições, vomiting, feeling bloating, bloating, dysregulated bowel, and losing weight for no reason is normal. And finally, worry about how you feel or stomach snoring, you are free to eat at any time and you are certain that your body will take advantage of everything, have a food, a water goal or a medicine. 20% of the world population suffers from some type of gastrointestinal problem. Of this number, 90% do not seek medical help, opening space for self-medication and aggravation of doenças. Take care, you? Fernanda Martinez ✍🏻 # ConvivendoComDoençasRaras #ParalisiaDoTratoDigestivo #FalenciaIntestinal
In conversation with BBC News Brazil, Fernanda shared her story from her home in Florianópolis, and answered the four questions she receives most frequently.
Whatand you have?
“Since I was a baby, I already showed some signs that something was wrong.
I was a girl with a lot pain in legs, arms. I was born with severe reflux, deafness in one ear. My family only realized when I was 2 years old, but the problems were already there.
Also had hypermobile joints, which are those that move beyond the normal range. I was very easy to contort, to get the joints out of place.
Those symptoms got worse as he got older. They all knew something was wrong, but they didn’t know what it was.
I didn’t know who to turn to either, until I came across a Facebook group talking about Ehlers-Danlos Syndrome.
I identified with the stories and looked for a geneticist. She did all the tests that confirmed it. The diagnosis of the syndrome came when I was 17 years. But the complications were already serious.
That was the main base disease he had, and it practically pushed all the others.
I already had joint injuries, suffered from dysautonomia, which is when the autonomic nervous system is affected. Had feeding problems, with diarrhea, vomiting, stomach aches.
But now, with a name for everything that was happening to me, I could begin to breathe easier. Now she had an explanation and was able to talk to doctors and others about what she had.
I discovered that the syndrome especially affects collagen, which acts as a support and glue for the body.
It’s not that it doesn’t have collagen, but it’s poor quality throughout the body: joints are more fragile and can slip out of place, organs are more fragile, blood vessels break easily.
For those who search on the internet, what draws the attention of the syndrome is the problem of the joints, or loose, elastic skin. But that is not all. There are many internal organs and other symptoms, like what happens to me ”.
(The Ehlers-Danlos Syndromes consist of a group of genetic conditions caused by abnormalities in the production of the structure of collagens in the body, present from bones to other internal organs. A 2017 classification defined 13 types. Fernanda’s is called SEDh or “hypermobile”, which is the most common and mainly affects to joints and muscles. Some of its manifestations include fibromyalgia, scoliosis, chronic fatigue, and respiratory, digestive, and gastrointestinal problems. It is estimated than 1 in 5,000 people in the world have the syndrome, which can manifest itself in a milder or more severe way).
You do not eat anything? And hunger?
“I can’t eat or drink anything.
My internal organs and muscles have weakened due to the syndrome. My nervous system, which coordinates peristaltic movements, is also affected.
At the end of 2016, I began to have a lot of difficulty eating, to the point of severe malnutrition.
I spent a year and a half on it, eating less and less, trying to change my diet.
In May 2018 I couldn’t eat anymore and they gave me one probe.
After the catheter was put in, I had a good year and a half. I felt more energetic, only my body began to reject everything that came through the probe as well.
My gut was not absorbing any more nutrients.
At the end of 2019, I suffered from severe malnutrition again and was admitted again. It was when they put a serum for the parenteral nutrition.
(The nutritionist Pâmela Finkler Richa, who accompaniedña to Fernanda, toadd that heto severe malnutrition caused the young woman to develop an obstruction in the duodenum, preventing the passage and absorption of food).
Now I have regained much of the weight, but a problem appeared in the liver, where nutrition is metabolized. But I’m going to have to fix that liver problem because you can’t go back
A long time ago I don’t feel hungry, because that depends on the movements of the stomach, mine does not move anymore.
Before I had more psychological urge to eat. When i have them, I chew and spit, without swallowing.
I chew more to maintain the routine, for example to accompany my mother during lunch, so that she is not alone ”.
(Fernanda has a home care system installed in the house where she lives with her mother and grandmother, where she is accompanied daily by two nurses. Parenteral nutrition is performed for a period of 12 hours a day, from night to morning. the other day.
How do you bathe?
“My aquatic urticaria, which people often call ‘water allergy‘, appeared when he was about 15 years old.
They were spaced reactions, but they got worse.
I avoid water as much as I can. I try not to sweat, I can not get in the pool, or in the sea. And the rain can’t get me wet.
To take a shower, I take an antiallergic, to try to improve any symptoms. I swallow it only with saliva.
Full body bath only twice a week. It burns, my skin fills with red spots. When it is very strong it hurts a lot, as if it had thousands of needles pricking my body.
Lately I take less baths, because I can’t stand the allergy in my stomach. Then I shower as quickly as possible, or I do it with a damp cloth.
But even if I didn’t have an allergy, I couldn’t get into the shower directly. The catheter where I receive the serum cannot get wet, you have to be very careful.
They have not identified if that is directly related to the syndrome, but there are other patients who have it as well.
Like that problem, there are others that have to be investigated to see if they are related to the syndrome, such as angioedema (which causes swelling in the extremities of the body, face and genitals).
The only disease that I am certain that is not related to Ehlers-Danlos Syndrome is a papillary thyroid cancer that I had. My parents had it too. It runs in the family.
And there are cases of people who had this cancer and who also developed aquatic urticaria ”.
Is there a cure?
“There is no specific treatment, what appears is treated. The intestinal part is not expected to be reversed. Parenteral nutrition will probably continue for the rest of my life.
The rest of the illnesses, like the problems in the joints, can be controlled more, with physical therapy, to avoid injuries.
A complete reversal, a cure, so far there is none. What you can do is try to have a better life quality, not miss the things I like to do, like playing online.
I’m not upset with my conditions. I try to learn from them.
I became passionate about medicine after meeting several doctors, now I want to study medicine as soon as I can.
I want to catalog rare diseases. Not all of them, because there are many, but make a record of as much as possible, to help those who received a diagnosis and do not know what it means.
It is not to replace the doctor, but to help understand the disease itself, or explain it in a simple way to these people. And if I can help just one person, the task will be accomplished.
99% of the time, people diagnosed with rare syndromes are mired in their own illness.
But the 1% – of joys, desires, wishes – is what balances our lives. So my need is also to show that 1%. It is as important as the other 99% ”.
If there was ever a cure, I would want to be first in line. “
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