LDA Research is supporting CureLONP1.com Aria’s Miracle research fund and her parent’s conviction that hope lies within the global medical and scientific community
Aria’s parents need to raise £4m to develop a gene therapy and an ASO therapy for Aria. They are keen to connect with other families with any kind of LONP1 mutations, even when both alleles of the gene are affected, in the hope of joining forces to create a LONP1 silence and replace gene therapy increasing the number of patients who could benefit from the treatment.
As well as being in a desperate race to save their daughter’s life, Aria’s parents are in the challenging position of raising funds for a disease that is so rare, that she is the only known survivor.
Aria was born with a de novo mutation in the LONP1 gene which gives her life limiting mitochondrial disease. Because her case is uncharted, her unique genetic makeup means no existing medical roadmap can predict her journey or outcomes.
Aria, now age 4, walks a tight rope metabolically every moment of every day. The prognosis is very bleak without discovering a breakthrough therapy for her. Her disease is going to shut down her organs one by one. She is the only one in the world with this disease meaning as a cohort she is N=1, a unique disease patient who needs a unique treatment tailored just for her.
Statistics show that rare diseases are a leading cause of infant mortality. Aria is the only known child with this condition, which raises the question of the treatment for small rare disease communities of orphan diseases, as they are often so neglected.
The urgency to find a cure is underscored by the knowledge that the only two other children worldwide with a similar mutation did not survive past two years of age.
Her parents said that navigating mitochondrial disease in the UK often feels isolating and hopeless. They believe that Aria’ story underlines a pressing need for a shift in how mitochondrial diseases are approached and treated.
The complexity of mitochondrial disease affects every cell, primarily impacting organs with high energy demands. An RSV infection leading to a catabolic crisis highlighted the nuances of managing mitochondrial disease in acute situations, emphasizing the necessity of tailored care and the importance of advocating for adherence to international guidelines that saved Aria’s life during her ICU stay.
Her parents said that their reality includes balancing the wellbeing of their son and the fear of new infections that could critically impact Aria.
‘Our beautiful daughter lights up the room even though she cannot talk, walk, sit up, crawl or even eat or drink by mouth. But she can laugh and oh, that smile.’ People say to them that she looks so well and healthy, but as we so often find with invisible illnesses, appearances can be deceiving.
The first sign that her path would be different came when Aria failed her initial hearing screening. This concern deepened when the genetic profiling identified a rare ‘De novo’ (the mutation was not inherited but spontaneous when she was conceived) genetic mutation in the LONP1 gene. Despite the challenges – her bilateral deafness treated successfully with cochlear implants at 17 months, her struggle with hypotonia preventing her from sitting and crawling – Aria finds joy and exploration in her unique way of rolling around, demonstrating resilience and a zest for life.
Every 30 minutes a child is born who will develop a mitochondrial disorder by age 10. As part of a group of mitochondrial diseases, Aria’s parents hope that the research findings into LONP1 and treatment, will have implications for many other mitochondrial disease sufferers.
The work itself may also help people in a much wider sense as our mitochondria are at the route of almost all disease, such as neurodegenerative diseases (e.g. Alzheimer’s and Parkinson’s disease), cardiovascular disease, cancer and even aging.
Dr David Fajgenbaum wrote in his book Chasing My Cure: A Doctor’s Race to Turn Hope into Action about his journey to find a treatment for his rare Castleman’s disease, ‘I was the fifth case ever. It was hard to imagine that any effective treatment would have been developed for such a small community.
‘There is also an aspect of feeling that no drug company is going to invest the time and resources needed into our little rare disease, because we’re too small, and maybe it’s not commercially viable. There are a lot of pharmaceutical companies that are really interested in rare diseases and developing them, but it’s a matter of finding the right fit.
‘A popular misconception is that rare diseases are highly complex or resistant to scrutiny. More often than not their underlying pathologies are simpler than those of many common diseases and often involve a single genetic defect. And technologies now exist to identify targets for treatments and drugs that effectively modulate them to interrupt disease. Less common diseases often have more to be learned – so small investments can go a long way for them and potentially have an even greater impact on patient lives.’
Aria’s parents have done their research, and like so many others in the rare disease community had to become experts on Aria’s LONP1 condition.
‘We are just two parents looking to save our baby,’ said Chris. ‘Aria is in a race against time and our mission is to explore every avenue to give her the longest, happiest life possible. Please help us find a treatment by donating to our research fund.’
Your donation will allow them to work with international research organisations who specialise in individualised N=1 medical research and solutions. The campaign aims to fund a team of specialists in her gene as well as physical therapeutics from leading centres globally.
Aria’s mum Andreea said, ‘Aria’s fourth birthday was a milestone we met with mixed emotions, a reminder of the precious time we cherish with her. Your generosity can help us navigate this challenging journey, bringing hope and potentially life-changing treatments into her life. Please help us to give Aria a future.’
Sole Survivor – Aria’s race against time – JustGiving
Just4Children is fundraising to enable life saving treatment for Aria’s unique mitochondrial disease. As UK doctors are unable to help Aria, funds will go towards finding a doctor internationally, initiating her Gene therapy Program and initiating ASO therapy helping us reach this target.
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