Medical breakthrough underway: "Investigation initiated on Laia's exceedingly uncommon illness"
3 minutes. It's 10 AM sharp, and we're kickin' things off at a cozy terrace in Madrid's Casa de Campo, meetin' up with Pablo and Almudena. They're both based in Belgium - Pablo's a journalist, and Almudena's a jurist - and they're stomping around the city, visitin' Almudena's family. Post-family catch-up, they're headed to Valencia to connect with Pablo's kin and partake in a charity event aimed at rakin' in dough for Laia's treatment.
Laia just recently turned 2. She's battlin' a super-rare disease, with fewer than 50 documented cases worldwide. As Almudena explains, "When she was born, the hearing tests didn't exactly go as planned. Over time, doctors pinpointed a host of developmental issues. Eventually, a pediatric neurologist linked it to a genetic snag, a syndrome that was wreakin' havoc on her system". This rare disease aligns with an issue in the KARS gene, hindering cells from producin' enough energy, affectin' her nervous system and major organs like the brain, eyes, liver, and ears. And to add insult to injury, it's incurable and degenerative.
After receivin' the definitive diagnosis, Almudena and Pablo dived headfirst into searchin' for info on their daughter's condition. They stumbled upon the fact that scientific literature on this rare disorder is scant. Only scattered details on similar cases from around the globe. Pablo throws some light on the situation, "In the scientific literature, we've noticed around 50 documented cases. We've managed to connect with about fifteen of them, and unfortunately, some patients have passed away. That's why we established the Curekars.org foundation. Our aim's to unite families, scientists, and health professionals. Our goal is to form a community that supports and collaborates together."
Research Push from ISCIII
As we mentioned, "Curekars.org Laia Foundation" came to life after discussions with several scientists. Specifically, a scientist named Inaki Perez de Castro played a pivotal role in this significant step taken by Pablo and Almudena. He recommended the creation of the foundation and serves as the researcher who launched a research line in the unit of genetic therapies at the Carlos III Health Institute. Following global conversations with scientists and researchers, Laia's case ultimately found a home, right here in Spain. "We've had the sheer luck that ISCIII greenlit this new research line," Pablo reflects.
This beacon of hope was sparked by Inaki Perez de Castro. He shares, "The parents' initiative and determination are what ultimately propel you into tackling a colossal project like this."
Regarding the research plan, Perez de Castro fills us in, "In the case of Laia, what we're aimin' to do is build both cellular and animal models to better comprehend the disease - as it's poorly understood - and test the therapeutic tactics we've designed. With its severity in mind, it's worth mentionin' that it's a relatively easy disease to target, as it's a disease caused by the lack of a gene's function. The logical strategy is to replace that gene." Ironically, though, we're startin' from scratch, and the first order of business is to create preclinical models. A second challenge stands in our way: time. "The preclinical project take between 3 and 5 years. Following that, the clinical part would arrive. The clinical trials, medicine production, and the bureaucratic and clinical safety procedures we need to observe... All these timeframes make it difficult for the treatment to reach the first patients of such a new disease."
Laia's Daily Grind
"Laia's condition has required us to overhaul our entire lifestyle," Pablo communicates.Laia kicks off her day at 6 AM with medication, is fed through a gastric button, meaning we need to provide her food every 3 hours with a machine and a slew of medications aimed at tacklin' symptoms since there's no cure for the disease. Doctors can only treat the symptoms that crop up locally, like epilepsy or stomach issues... Days with Laia are pretty intense, with her needin' daily physiotherapy sessions she's been attendin' since she was just 4 months old." He adds, "Doctors advise us to take life one day at a time with Laia and her condition because there's no scientific evidence to predict her life expectancy. So, we're livin' with that uncertainty."
Almudena and Pablo are realists, but they have unshakable faith in science and the team that supports them. Because they've got a goal in mind: "Our top priority is Laia's treatment and recovery. However, we're fully aware of science's deadlines, and this treatment might not reach our generation. Let's keep our fingers crossed that it doesn't." So, Almudena and Pablo are holdin' on to science tight.
- In their quest for information about Laia's rare disease, Pablo and Almudena discovered a lack of extensive medical-conditions literature on the specific disorder.
- The research line initiated by Inaki Perez de Castro at the Carlos III Health Institute focuses on creating cellular and animal models to better understand Laia's condition and develop potential therapies, highlighting the importance of science and health-and-wellness research in fighting rare diseases.
