Nia Jones, a 42-year-old mother from Ruthin, Denbighshire, collapsed and turned blue on a flight to Barcelona, leading to the diagnosis of an ultra-rare genetic disorder that affects fewer than 100 people worldwide.
Collapse on the Plane
Just after takeoff, Nia blacked out. She recalled: “Everything went black. When I woke up, I was lying in the middle of the plane aisle with a thumping headache. Blurry faces came into view and a woman said gently that I was in Paris. I asked where my daughter was, as I thought coming home from there was all a dream. But then my partner, Bryn, came next to me and said I was safe.”
Her body began jerking, and she briefly turned blue. The plane made an emergency landing in Paris, where she was stretchered off to hospital. Multiple brain scans found nothing unusual, and she returned to the UK via Eurostar, referred to a neurologist. It was initially thought to be a one-off event.
Second Seizure and Diagnosis
Six months later, Nia blacked out again at home. She said: “I had to give up my driving license in case it happened again. It was so stressful. Six months later, I blacked out again at home. In hospital, I was diagnosed with epilepsy, but my blood tests revealed my calcium levels were abnormally high.”
Further tests led to a diagnosis of multiple endocrine neoplasia type four, a rare genetic disorder with fewer than 100 confirmed cases worldwide. It causes mutations in the tumour suppressor gene, increasing the risk of tumours in endocrine organs such as the thyroid, pancreas, and ovaries. Nia said: “I was speechless. The consultant didn’t know if it had caused my epilepsy, but my high calcium levels could cause seizures.”
Surgery and Recovery
Nia underwent surgery to remove three parathyroid glands to regulate her calcium levels. Since then, she has not suffered a single seizure and has been able to regain her driving license. She now has regular scans to monitor for tumours.
Nia added: “I want to speak out about my condition, as it’s so rare. People could be living with it without knowing. I’m proof that with the right treatment, there is chance to live a normal life.”
