‘I’ll go anywhere, I only need an outlet’: life with cystic fibrosis

Diagnosed with cystic fibrosis with just six months to live, the digital influencer Jade Monte-Mor, 26, says that she tries to make the disease not a limiting factor in her life. For the last three years, she has been using oxygen 24 hours a day and insists on traveling, going to parties and living a life as close as possible to what she considers “normal”.

The influencer reports that she discovered the disease after a genetic test. Before receiving the diagnosis, she lost her older sister, Jessica, then just six years old, to cystic fibrosis.

Jade, who is from Taquara (RJ), says that, until she was three years old, Jessica was a child who had no health problems. But symptoms began to appear that doctors could not explain, such as shortness of breath. After several tests, the girl was diagnosed with cystic fibrosis. It was her sister’s death that caused doctors to do several tests and discover that Jade also had the condition.

“In my sister’s time, cystic fibrosis was not known at all, it was unfortunately treated like tuberculosis, with strong medicines that were not the right ones, a lot of time was lost. We discovered the disease too late”, he says.

The influencer was just a year old when she lost her sister and had no idea what was going on. She knows what her family and older sister faced through her parents’ reports.

Depression

As a child, Jade had a life like other girls her age. The condition did not prevent her from going to school, running and playing, for example.

“When I was younger, I had an enviable breath, I was always passionate about those bounce houses, I ran, played, did everything, always aware of my treatment and my illness 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 started to reject the disease, stopped taking the medication for cystic fibrosis on her own and stopped the treatment. She needed psychological follow-up to resume treatment.

“At this stage we want to be like the others, to fit in, and when this is not the case, it is difficult to understand and accept”, he says.

Use of oxygen 24 hours a day

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

“I woke up and 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! I felt like lightning was burning me from the inside. I went to the nearest hospital and, in addition to the pain, I had a fever of 39.7°C, which wouldn’t go away”, he recalls.

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

“I take about 20 pills, I do two sessions of physical therapy and six inhalations daily”, he adds.

Despite the difficulties of the intense treatment routine, Jade says that she saw in social networks an alternative to not stand still. Every week she records and publishes videos showing her day to day and explaining about the disease.

“The idea is precisely 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 an oxygen cylinder doesn’t stop the influencer from going out and having fun. Some adaptations are necessary, such as going to places that have sockets to charge the oxygen cylinder. When there is no such possibility, she explains that it is necessary to stay a few hours less outside the house so as not to run out of air.

In addition, she also usually uses a wheelchair when she goes out, as walking pulling the cart in which the equipment is placed causes fatigue due to the impairment of her lungs.

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

Leaving the oxygen aside

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

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

“If I laughed spontaneously, I would have coughing fits for an hour or so, so I had to concentrate not to laugh. It was a very difficult period, first to accept that I needed to use the oxygen and then I had 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 that time”, he recalls.

It was after three years using oxygen continuously that, at the end of 2021, Luana started using the high-cost medicine Trixacar. Initially, she did crowdfunding and campaigns to raise money and buy the medication, which costs around R$ 20,000, until she got the right to receive it free of charge in court.

“Today I can take a bath standing alone and walk short distances without needing oxygen. I only use it to sleep and do physical activity in physiotherapy”, adds the student.

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

Cystic fibrosis: what is it, what are the symptoms and the treatment

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 “salty kiss disease” because the sweat is filled with excess salt. It is estimated that the disease affects about 70,000 people worldwide.

“Cystic fibrosis happens when the child has two defective 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 much more secretion thicker than normal, making it difficult for the affected systems to function properly, especially the lungs and the digestive system”, explains Sonia Mayumi Chiba, pneumopediatrician responsible for the cystic fibrosis outpatient clinic at UNIFESP.

The diagnosis is usually made in neonatal screening, popularly known as the heel prick test. The test identifies newborns with suspected disease and confirmation is carried out 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:

• Difficulty growing and gaining weight

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

“The main drugs for treating the pulmonary condition are: inhalation with a fluidizing agent or bronchial secretion moisturizers, or inhalation with a hypertonic solution, antibiotics and respiratory physiotherapy. fats, proteins and other nutrients. The use of dietary supplements to increase caloric intake and vitamins are essential to maintain an adequate nutritional status”, adds Chiba.

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

“The modulator called Ivacaftor was incorporated into the SUS in 2020. But it is offered to eligible people with cystic fibrosis (they need to present 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 represents 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 medicine, most patients file a court order and obtain the right to receive them free of charge.

There is still no cure for cystic fibrosis, but the use of medication helps the affected organs to function correctly again. Treatment and medical follow-up must be carried out for life and in some cases lung transplantation may be necessary.

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

This text was originally published here