GLDN protein deficiency
After 7 years of waiting, 10-year-old Martí can name his illness, but there is no treatment available
Martí has turned 10. He was born in September 2014 alongside his twin sister, Júlia. She arrived healthy, while he required respiratory support from the very beginning. He spent five months in the neonatal ICU at the Sant Joan de Déu Hospital in Barcelona, and seven years of investigations have passed until his illness was finally diagnosed.
Naming your child’s condition is a step forward for your family. But uncertainty persists: there is no treatment. “We have to continue to trust in research and in the support provided by our son’s healthcare team,” explains mother, Pilar Duque.
The child has an extremely rare disease called GLDN protein deficiency, of which only four people in the world have been diagnosed, and he is the oldest one. “Martí is the one who is shaping the course of this genetic disease. We are in the hands of science, research, and trusting the entire team at Sant Joan de Déu,” says his mother. She suspects, like the doctors, that the number of affected individuals is significantly higher than those identified, due to the difficulty of diagnosis.
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In fact, the child has been part of a research study at the Sant Joan de Déu Hospital and the Center for Genomic Analysis (CNAG)
which, through an innovative genetic analysis, has helped diagnose 23 children with neuromuscular diseases, putting an end to long waits that in some cases exceeded 8 years.
The study, whose results are published in the scientific journal European Journal of Human Genetics,
involved 58 pediatric patients affected by some type of neuromuscular disease (with muscle weakness and/or loss
of muscle mass). None had been genetically diagnosed, although they had been studied through exome sequencing,
a genomic technique that studies the part of DNA that encodes proteins where mutations associated with these
pathologies are usually found. This practice often helps to find a molecular diagnosis in 15% of cases, while the new
genetic analysis increases the success rate to 40%.
What role does research play in Pilar’s hope for her son’s future, as depicted in the interview?
## A Mother’s Hope: Living with GLDN Protein Deficiency
**Interviewer:** Welcome to the show. Today, we’re joined by Pilar Duque, whose 10-year-old son, Martí, was recently diagnosed with the extremely rare GLDN protein deficiency. Pilar, thank you for being here.
**Pilar:** Thank you for having me.
**Interviewer:** Martí’s journey to diagnosis was a long one – seven years. Can you tell us a little bit about what that was like?
**Pilar:** It was definitely a difficult time. Seeing Martí struggle with health issues from the moment he was born, and not knowing what was causing them, was incredibly worrying. We had a lot of tests and appointments, and countless uncertainties. getting a diagnosis, even though there’s no known treatment, was a relief in some ways. At least we knew what we were dealing with.
**Interviewer:** GLDN protein deficiency is so rare, there are only a handful of known cases worldwide. What does this diagnosis mean for Martí’s future?
**Pilar:** It means we have a lot of unknowns. We’re learning as we go, alongside the doctors and researchers. Right now, the focus is on managing Martí’s symptoms and providing him with the best possible quality of life.
**Interviewer:** You mentioned research. What role does research play in your family’s current situation?
**Pilar:** Research is our hope. While there’s no cure yet, ongoing research into GLDN protein deficiency could someday lead to treatments or even a cure for Martí and others like him. We are actively looking for clinical trials and participating in research studies whenever possible.
**Interviewer:** What message do you have for other families facing similar challenges?
**Pilar:** Don’t give up hope. Keep searching for answers, advocate for your children, and connect with others who understand what you’re going through. There is strength in community and knowledge.
