Violet, seven, is the eldest of three children and is living with primary hyperoxaluria type 1 (PH1). According to her mother Caroline, Violet’s spunky personality is what helped to carry her through the months-long path to a diagnosis of PH1.
At two and a half years old, Violet began to have unexplained vomiting episodes that would come and go quickly with no other symptoms. After a few weeks of this, she began experiencing severe and debilitating stomach pains that would hit so hard that she would curl into a fetal position sobbing in pain. In addition, she was lethargic – and that was counter to her typical strong-willed, determined ferocity.
After a few sleepless nights with Violet waking in agony, Caroline and her husband Eldon started the journey to solve the medical mystery. After initially receiving a diagnosis of constipation, Violet’s symptoms continued to worsen. A trip to the emergency room provided yet another misdiagnosis: a bladder infection. Finally, after a week of taking antibiotics and Violet’s pain levels increasing, the doctors performed an ultrasound. To everyone’s shock, the ultrasound revealed numerous kidney stones in Violet’s bladder and kidneys – one as large as a ping-pong ball.
“We were in complete disbelief that a child so young could be filled with kidney stones, though relieved to know that our instincts had been right and that there was more to the story of what had been causing our child to be in such severe pain,” said Caroline.
After the discovery of the kidney and bladder stones, things began to move quickly, including multiple surgeries to remove them. While all doctors were baffled at Violet’s condition, none could give her a diagnosis that explained why a vibrant two-year old was riddled with kidney stones.
Many blood tests and ultrasounds later, a nephrologist suspected that Violet had primary hyperoxaluria (PH), a very rare genetic kidney disease. A genetic test later confirmed that Violet did have PH 1 – the most severe form of PH.
Violet’s parents were in despair. “This was a huge learning curve for us, and never in a million years could we have imagined that we would be faced with our child being diagnosed with a potentially life-threatening disorder.”
Violet has now been living with PH1 for just over five years. While it does affect her daily life – she must be diligent about drinking two liters of water and take multiple forms of medication daily – she has lived a very normal life. She still has a few small stones, but these don’t prevent her from joining in on her favorite activities, like dance and gymnastics. Violet’s parents continue to help her understand the importance of these requirements in keeping her healthy.
Still, Violet’s family worries that the disease will overtake her system and cause greater issues than just kidney stones. “Our hope is that one day there will be a cure, and Violet will no longer have to take medication daily, monitor her diet and salt intake so closely, or worry that new stones could be forming and causing internal damage at any moment.”
Violet’s parents recognize that knowledge is power, and they understand the importance of advocating for their daughter and other people with PH1.
“We can only hope that our story will help others to recognize symptoms and receive a diagnosis and treatment early on that will prevent this disease from causing great, potentially life-threatening, damage.”