A Welsh woman’s terrifying mid-flight blackout, which saw her wake up in Paris with no memory of how she got there, led to the diagnosis of an extremely rare genetic disorder affecting fewer than 100 people globally. Nia Jones, 42, from Ruthin, experienced the alarming episode shortly after boarding a flight to Barcelona for a short city break.
The incident occurred just after takeoff. One moment, Ms. Jones was seated on the plane; the next, she experienced a complete blackout. She recounted the disorienting experience: “Everything went black. When I woke up, I was lying in the middle of the plane aisle with a thumping headache.” Confused and dazed, she saw blurry faces and was told by a woman that she was in Paris. Her initial confusion stemmed from the fact that she had only returned from a trip to Paris with her daughter the day prior, making her question if her recent memories were real.
Her partner, Bryn, soon arrived, reassuring her that she was safe. Ms. Jones described feeling utterly bewildered as she was taken off the plane on a stretcher and transported to a hospital for evaluation. During the episode, witnesses reported that Ms. Jones had suddenly fallen from her seat, her body exhibiting jerking movements, and she had briefly turned blue. The flight crew made the decision to divert and make an emergency landing in Paris to ensure she received immediate medical attention.
Initial medical examinations and multiple brain scans conducted in Paris revealed no abnormalities. Doctors initially believed it might be a one-off event. Ms. Jones returned to the UK via the Eurostar train and was subsequently referred to a neurologist. The prevailing expectation was that the incident was an isolated occurrence.
A Second Terrifying Episode and a Diagnosis
However, the unsettling experience was not over. Approximately six months later, Ms. Jones suffered another blackout, this time at her home. This recurrence prompted further investigation. “I had to give up my driving license in case it happened again. It was so stressful,” she shared, highlighting the significant impact the uncertainty had on her daily life and independence.
Following the second incident and subsequent hospital assessments, Ms. Jones received a diagnosis of epilepsy. However, further blood tests uncovered another critical finding: her calcium levels were abnormally high. This discovery led to a more profound diagnosis: multiple endocrine neoplasia type four (MEN4), a rare genetic disorder with fewer than 100 confirmed cases worldwide. MEN4 is characterized by mutations in tumour suppressor genes, significantly increasing the risk of developing tumours in endocrine organs, including the thyroid, pancreas, and ovaries.
Ms. Jones expressed her shock at the diagnosis: “I was speechless.” She noted that while her consultant was uncertain if MEN4 directly caused her epilepsy, the elevated calcium levels were a known potential trigger for seizures. This realization provided a potential explanation for her harrowing experiences.
Treatment and Recovery
To address the high calcium levels, Ms. Jones underwent surgery to remove three of her parathyroid glands. This procedure aimed to regulate her body’s calcium balance. Since the operation, Ms. Jones has reported no further seizures, a significant improvement in her health and well-being.
The successful treatment has also allowed her to regain her driving license, restoring a degree of normalcy and independence. “I have regular scans to check for tumours – but I’m doing well,” she stated, acknowledging the ongoing need for monitoring due to the nature of her genetic condition.
Raising Awareness for a Rare Condition
Ms. Jones has chosen to speak publicly about her diagnosis to raise awareness for MEN4, a condition that remains largely unknown. “People could be living with it without knowing,” she emphasized. Her personal journey underscores the importance of thorough medical investigation, especially when unexplained symptoms arise.
She hopes her story will offer encouragement to others facing rare or complex medical challenges. “I’m proof that with the right treatment, there is a chance to live a normal life,” Ms. Jones concluded, highlighting the positive outcomes achievable with accurate diagnosis and effective medical intervention.
