Living With Primary Hyperoxaluria: A Rare Patient Story

Molly Ouimet was three years old when she got her first kidney stone. Molly, who wasn’t very vocal at the time, had a difficult time explaining the pain that she was feeling. In fact, when she was first taken to the hospital, doctors were initially convinced that she was just making a fuss. It was only the observations of her grandfather, who had dealt with kidney stones in the past, that convinced the doctors to take the situation seriously.

Molly lives with a rare disorder called primary hyperoxaluria, which she was eventually diagnosed with years later in 2009, when she was six years old.

About Primary Hyperoxaluria

Primary hyperoxaluria is a rare progressive condition in which the body produces an excess of oxalate. This primarily leads to the development of deposits of oxalate that appear in the kidney and bladder, resulting in frequent kidney stones. There are three different types of primary hyperoxaluria which are distinguished by distinct causal mutations that affect different genes. The symptoms that result from these disorders are the result of oxalate deposits appearing in different areas of the body. Oxalate may appear in the bone marrow, joints, and bones. Frequent kidney stones result in symptoms such as acute pain, secondary infection of urine, and ultimately damage to the kidneys. As these stones appear early in life, kidney failure is of serious concern to primary hyperoxaluria patients. There aren’t any medications currently approved for this condition. Treatment approaches may include dialysis and kidney/liver transplant. To learn more about primary hyperoxaluria, click here.

Molly’s Story

I first met and spoke to Molly at Rare Disease Week 2020, held in Washington, DC. She carries a large bottle of water with her at all times. She tries to drink a gallon a day in an attempt to flush as much oxalate from her body as possible.

Even though it still took years for her to get diagnosed, Molly says she is luckier than many other patients, who may not be diagnosed until they are adults. Molly’s parents immediately moved to get her brother Patrick tested. Thankfully, he showed no signs of the disease. Meanwhile, dealing with kidney stones became a routine challenge in her life, and there were several times when she had to get surgery because they were simply too large to pass. Over time, the condition has continued to get more severe. Just recently, Molly started dialysis for the first time.

Molly’s youngest brother Matthew was born when she was seven years old. A genetic test soon revealed that he also had primary hyperoxaluria. While the family and the doctors expected Matthew’s disorder to present in the way the Molly’s had, the boy suddenly experienced kidney failure before he was even a year old. After being on dialysis for over two years, Matthew had an liver and kidney transplant. Matthew also has had oxalate crystals appear in his eyes.

Until recently, Molly was involved in a clinical trial for primary hyperoxaluria which was testing an experimental treatment. This treatment would have allowed her to keep her liver and only undergo a kidney transplant. Unfortunately, the trial was slow paced and she was told that she could not longer participate because her kidney function was too poor.

Having to use dialysis has upended a lot of Molly’s old routine. She has to travel an hour and back each day to a treatment center six days a week, with each session lasting at least 3 hours. All of her schooling has to be done from home now as well. However, Molly knew it would have to happen eventually and feels very supported by her family.

Molly likes to write and one day hopes to have a career as a young adult fiction novelist.

“A lot of people, including my family and doctors, have told me that it’s important get my story out there. I love advocating and sharing my story.”

As a message to others that are dealing with rare disease or chronic illness, Molly had this to say:

“Keep up the hope. There is a light at the end of the tunnel. You have a huge community behind you.”

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