‘I’ll go anywhere, I just need an outlet’: life with cystic fibrosis – BBC News Brasil

The influencer was just one year old when she lost her sister and had no idea what was going on. He knows what his family and older sister had to go through through his parents’ reports.

As a child, Jade had a life like other girls her age. Her condition didn’t stop her from going to school, running and playing, for example.

“When I was younger I had an enviable breath, I always had a passion for those bouncy houses, I ran, I played, I did everything, always aware of my treatments and my disease and always receiving the support of the whole family”, says the influencer .

As a teenager, the influencer recalls having bouts of anxiety and depression. At that time, she began to reject the disease, she stopped taking the cystic fibrosis medication herself, and stopped the treatment. She needed psychological follow-up to resume treatment.

“In this stage we want to be like others, we want to fit in, and when we don’t, it’s hard to understand and accept,” she says.

In 2019, when she got chikungunya, Jade’s condition worsened and she had to stay in the hospital for 24 days. It was at that moment that the influencer started using oxygen 24 hours a day and saw her routine change radically. Also, in June of last year, she had covid-19 and, while recovering, she had an episode of hemoptysis (coughing up blood) and a pulmonary aneurysm.

“I woke up and I couldn’t put my feet on the ground, it was a pain that came from inside my body, from my feet to my head, an inexplicable pain! It felt like lightning was burning me from inside. I went to the hospital closer and, in addition to the pain, I had a fever of 39.7°C, which didn’t go away”, he recalls.

Due to her worsening disease, Jade lost her lung capacity. She has joined the lung transplant queue and is waiting for a new organ. Since then she has suspended the course at the Faculty of Pedagogy and has left the internship that she was carrying out.

“I take about 20 pills, do two physiotherapy sessions and six inhalations a day,” she adds.

Despite the difficulties of the intense treatment routine, Jade says she saw social networks as an alternative to not sitting still. Every week she records and publishes videos that show her day by day and explain her illness.

“The idea is just to demystify that oxygen is something limiting. Yes, we have our limits, but we can also adapt and do normal things,” he recalls.

And having to constantly carry around an oxygen tank doesn’t stop the influencer from going out and having fun. Some adaptations are required, such as going to places that have outlets to charge the oxygen tank. When there is no such possibility, explain that it is necessary to spend a few hours less away from home in order not to run out of air.

In addition, he also usually uses a wheelchair when he goes out, as walking while pulling the trolley in which the equipment is placed causes fatigue due to his compromised lungs.

“I’ve been to the beach, shopped, traveled, and even went to a rock festival last year. At the festival, everything was very accessible, they even put in an outlet so my oxygen would stay on and I could enjoy until al end It’s possible to do everything, we just need a little accessibility and an outlet close by,” jokes Jade.

Like Giada, the student Luana Reinert, 22, residing in Curitiba (PR), has had to use oxygen constantly for three years. However, the need was dropped just over a year ago after the student began using a drug that modulates the protein CFTR, which helps her work more effectively. (See below for what is cystic fibrosis and the role of

The young woman was diagnosed with the disease at two months, through foot testing and sweat testing. But it was at the age of 17 that the disease worsened and she had her first hospitalization. With only 30% of her lung capacity and weighing 42 pounds, she was no longer able to perform activities such as walking or even laughing.

“If I laughed spontaneously, I would have coughing fits for about an hour, so I had to concentrate not to laugh. It was a very difficult time, first accepting that I needed to use oxygen and then having to use a wheelchair because I was too weak. I dropped out of college because the doctors said I wouldn’t be able to lead a normal life at the time,” he recalls.

It was after three years of continuous use of oxygen that, in late 2021, Luana began using the high-cost drug Trixacar. Initially, she crowdfunded and campaigned to raise money and buy the drug, which costs around R$20,000, until she won the right to receive it for free in court.

“Today I can bathe standing up on my own and walk short distances without needing oxygen. I only use it to sleep and exercise in physiotherapy,” adds the student.

Despite the evolution of her health, Luana is still waiting for a lung transplant.

Cystic fibrosis is a rare genetic disease that causes changes in the protein that produces mucus and digestive enzymes. It is also known as the “Salt Kiss Disease” because the sweat is filled with excess salt. The disease is estimated to affect around 70,000 people worldwide.

“Cystic fibrosis occurs when the baby has two faulty genes, one from the mother and one from the father. This gene called CFTR produces an abnormal protein (also called CFTR) in several organs, causing the body to produce a much thicker secretion than normal, making it difficult for the affected systems to function properly, especially the lungs and digestive system,” explains Sonia Mayumi Chiba, pneumopediatrician in charge of the cystic fibrosis clinic at UNIFESP.

Diagnosis is usually made during newborn screening, popularly known as heel prick testing. The test identifies newborns with suspected disease and confirmation is done through the sweat test, which evaluates the concentration of chloride (one of the components of salt), and the genetic test, which shows which mutations are present in the genes.

Symptoms of cystic fibrosis include:

Cystic fibrosis doesn’t just affect the lungs. It affects different organs, such as the pancreas, kidneys, liver, stomach, intestines and even the face. Therefore, the person with the disease follows different specialists, such as pulmonologists, gastroenterologists, physiotherapists and nutritionists.

“The main drugs for the treatment of the pulmonary condition are: inhalation with a thinning agent or moisturizers of bronchial secretions, or inhalation with a hypertonic solution, antibiotics and respiratory physiotherapy. fat, protein and other nutrients. The use of dietary supplements to increase calorie intake and vitamins are essential to maintain adequate nutritional status,” adds Chiba.

Of the drugs indicated for the disease, CFTR protein modulators are the most effective because they help these faulty proteins work more effectively, according to experts. However, they are expensive and only one is available in the Unified Health System (SUS).

“The modulator called Ivacaftor was incorporated into SUS in 2020. But it is offered to eligible people with cystic fibrosis (they must have a certain type of genetic mutation) and there are few patients who have it. Another CFTR modulator, Trikafta is available in several countries and is for patients with one or two mutations, which account for 70% to 80% of patients with cystic fibrosis. It is not yet available in the SUS and its high cost is a limiting factor,” adds Chiba.

To gain access to the drugs, most patients file a court order and are granted the right to receive them free of charge.

There is no cure for cystic fibrosis yet, but the use of medications helps the affected organs function properly again. Treatment and medical follow-up must be lifelong, and in some cases lung transplantation may be necessary.

“Lung transplantation is indicated for patients with cystic fibrosis who already have advanced lung disease, with very compromised lung function, despite optimized treatment,” says Sâmia Rached, pulmonologist, coordinator of the Scientific Committee of Cystic Fibrosis of the Brazilian Society of Pneumology and Physiology (SBP).