A recent article shared the story of a woman diagnosed with cystinuria whose life was saved after her younger brother donated one of his kidneys.

Cystinuria

Cystinuria is a rare condition that occurs when the amino acid cystine builds up in the kidneys and bladder. This excess cystine accumulates and forms crystals, which have the potential to become stones and get stuck in the kidney or bladder. If the stones merge with calcium molecules they can become larger stones, which can block the urinary tract and become a site for bacterial infections.

Symptoms:

A major sign of cystinuria is very high levels of cystine in the urine. Symptoms include a sharp pain in the lower back or side of the abdomen, an obstructed urinary tract, blood in the urine, and infections of the urinary tract. Urinary stones are an additional symptom.

It is important to seek treatment for this condition, as it can lead to kidney damage over time. 

Cause:

Mutations in the SLC3A1 and SLC7A9 genes result in cystinuria, both of which are inherited in an autosomal recessive pattern. They are responsible for subunits of a protein complex that is necessary in the kidneys that is responsible for reabsorbing amino acids, like cystine, back into the blood. When the genes are mutated, the protein complex does not do its job, which leads to the accumulation of cystine in the kidneys and bladder.

Treatments:

Doctors recommend drinking lots of fluids throughout the day and night to lower cystine levels in the urine, along with adding dietary salt and restricting animal proteins in one’s diet. Drugs can also be prescribed to lower the amounts of cystine in the urine, such as potassium citrate and acetazolamide. Thiola is another FDA approved treatment for cystinuria.

A less popular treatment approach is d-penicillamine. This treatment makes the cystine more soluble, but it is not as effective as thiola and brings side effects. 

If stones become large and painful, then surgery may be necessary to remove them. Fortunately, the stones are often small and can be passed through urination. 

Niamh Kelly’s Diagnosis

Niamh Kelly was diagnosed with rare cystinuria when she was only in her teens after dealing with years of abdominal pain when exercising. After her diagnosis, she endured a multitude of operations and procedures while still experiencing pain and various illnesses. Her pain was constant, and she often found herself with kidney infections. By the time she entered college, Kelly was still visiting the hospital frequently for her various ailments and illnesses, but still she did her best to persevere.

Despite her consistent illnesses and pain, Kelly remained positive throughout and was able achieve her dream job – a primary school teacher. She was inspired to become a primary school teacher after the impact her teachers had on her as a young girl.

A Turn for the Worse

However, shortly before turning 30, Kelly’s kidneys started to deteriorate. She had only 2 or 3 percent of function left in her left kidney and was consistently getting kidney infections. As a result, her medical team decided the best option for Kelly was to remove her kidney.

After the removal of her left kidney, Kelly’s still dealt with issues with her remaining kidney. With only 21 percent of function left in her one remaining kidney, a year after her surgery, Kelly had to undergo dialysis and was put on the transplant list.

Unfortunately, Kelly started dialysis right around the time when the COVID-19 pandemic took over the world. At this point, she was diagnosed with Stage 5 end-stage kidney disease and had to do her dialysis treatments at home.

The Greatest Gift

Kelly’s younger brother, Paul Kelly, had offered to get tested to see if he was a match to be his sister’s donor at the very beginning of her journey. But with the pandemic still raging it meant that Paul Kelly would be more vulnerable after his surgery, leaving the parents of the brother and sister duo worried. As a man with two young children to take care of, his health was also a major concern to the family. In spite of these concerns, Paul Kelly was tested and proven to be a match for his sister, and thus the surgery date was set.

In July of 2021, the siblings had their surgery. Although Niamh Kelly was seemingly more worried about her brother than herself on the day, he remained confident and determined to save his sister. Both of the surgeries went well, with Paul Kelly being released less than a week later. Now, Paul Kelly is in good health and back to work while Niamh Kelly is living life with more energy than she has ever remembered having.

Throughout Organ Donor Awareness Week, which ran from April 23 to April 30, Niamh Kelly has been sharing their incredible story to emphasize the importance of organ donation.