‘Thanks to this cystic fibrosis treatment, Quique’s lung capacity has greatly improved, and he no longer has cirrhosis’

Quique was diagnosed with cystic fibrosis at seven months old. While his parents are both Spanish, Quique was born in Mexico, where this rare disease is not routinely screened for in newborns.

The first warning sign that put his parents on high alert was when Quique was two months old and not putting on weight. Concerned, his parents took him to the pediatrician. 

This marked the start of a long journey to see several specialists. ‘At first, doctors thought it was a milk intolerance. We tried different types of milk, but he still didn't gain weight. After the pediatrician, we went to a nephrologist, then an endocrinologist... We saw so many doctors, but nobody connected what was happening to Quique to cystic fibrosis. We first heard the name of the disease in hospital, when he was admitted for pneumonia’.

In the space of two months, the young boy suffered two episodes of pneumonia. It was then that doctors suggested that Quique might have cystic fibrosis. Shortly afterwards, they did a sweat test which confirmed the diagnosis. Quique was seven months old at the time and weighed only four kilogrammes.

The boy started out taking vitamin complexes and antibiotics to treat infections. However, the pandemic was a turning point for him. Quique significantly worsened and suffered a pulmonary exacerbation.

At that point, his parents decided to move permanently to Barcelona. The infant was consequently transferred to the Cystic Fibrosis Unit at the SJD Barcelona Children's Hospital for care and treatment, one of three leading hospitals in Catalonia for the diagnosis and treatment of this disease. ‘Here they discovered that Quique's disease had already caused severe liver damage. He was diagnosed with cirrhosis’, recalls his mother.

In November 2022, the Ministry of Health approved a modulator treatment containing active ingredients ivacaftor, tezacaftor and elexacaftor for children aged six to 12 with cystic fibrosis caused by an F508del mutation in the CTFR gene. This so happened to be the same genetic mutation that Quique has. So, at 11 years old, Quique was one of the first patients to receive the treatment.

‘The change has been spectacular’, notes his mother. ‘Quique’s lung capacity has greatly improved. Now he has an 89% capacity. Plus, surprisingly, his cirrhosis is gone. He has gained weight and grown, and can even play football without any problems’.