Living with Cystic Fibrosis: Urte shares her story on Rare Disease Day

Rare Disease Day falls on the last day of February each year and aims to raise awareness for rare diseases and their impact on individuals and their families. In honour of Rare Diseases Day, we want to share Urtė’s story about her family's journey with cystic fibrosis and the struggle to access treatment. 

Urtė Gylienė, Lithuania:

“On the day my daughter Milda was born, I never suspected that along with my joy, she would bring a rare genetic disease - cystic fibrosis (CF). I had never even heard of it before.

Milda seemed healthy at first, but after she fell ill with COVID-19, she started showing more and more alarming symptoms. She wasn't gaining weight, despite eating a lot, and she had a strong cough. 

Doctors initially thought all her symptoms were due to the COVID-19 infection. But I was very worried, so I started looking for answers. From the beginning, no doctor suspected it could be cystic fibrosis. Even my relatives, who are mostly doctors, thought I was making it up. But when her cough didn’t go away, we saw a number of specialists, and eventually, Milda was diagnosed with CF. 

Cystic fibrosis is a disease that affects the lungs, the pancreas, and the endocrine system. It disrupts digestion, and mucus clogs the ducts of the pancreas as well as the lungs and airways. The human body is normally able to remove the mucus it produces, but in people with cystic fibrosis, the mucus is too thick and too sticky due to impaired transfer of salts and water from and to the cell.

This sticky mucus creates a great environment for bacteria and viruses, leading to various diseases and pneumonias that damage the lung tissue. Just as a person cuts a finger and a scar forms, the lung tissue also becomes scarred. The airways don't work as they should, and the lungs drown due to mucus. The person can no longer breathe, they no longer receive oxygen, and as the disease progresses the sad reality is that the patient eventually dies due to lack of oxygen and general exhaustion of the body. 

Milda's life has become a lot more complicated since her diagnosis. She has to avoid any sources of infection, so she can't attend kindergarten. In just a few days, she can go from being healthy to spending several weeks of treatment at home or in the hospital. Cystic fibrosis progresses relentlessly with time, and every infection or illness can irreversibly damage the patient's health.

Today, there is no cure for CF, but there are miraculous drugs that would ease the course of the disease and reduce most of the symptoms. These medicines are called gene modulators and are available in only 30 countries. Lithuania is not one of those countries and so these life-saving medicines are left out of reach for many families like mine. We need more support and access to lifesaving medication so that our children can have the chance to live longer, healthier lives.” 

The reason lifesaving CF drugs are unavailable to so many families like Urte's is because US company Vertex is currently charging up to $326,000 per patient per year, whilst raking in billions in profits. Alongside Urte and dozens of other CF patients and families across the world, we are calling on Vertex to drop the price and ensure universal access for every patient, everywhere. Read more here and join us by signing our campaign petition today!