Cystinosis – what is it?

What is Cystinosis?

Cystinosis is a rare, inherited disease characterized by the abnormal accumulation of the amino acid cystine. The build-up of cystine in the cells eventually destroys all major organs of the body. Currently, there is no cure … only a time demanding, around the clock treatment. This rare metabolic disease afflicts 75 children and young adults in Canada, and only 2,000 worldwide.

What are the symptoms?

  • Kidney decline with end-stage in ‘treated’ cases at approximately 15 to 28 years old with dialysis and/or kidney transplant required
  • Dehydration due to impaired kidney function result in increased urination and thirst
  • Sensitivity to light due to crystals in the eyes require cystine-dissolving eye drops
  • Stomach/gastrointestinal problems that include nausea, vomiting , heartburn and reflux
  • Muscle wasting and weakness of limbs beginning in the hands
  • Slow growth resulting in children shorter for their age due to organ damage, nutrient issues and bone disease
  • Rickets due to high levels of phosphorous that are normally eliminated in the urine

Cystinosis symptoms usually appear with in the first year of life.  A diagnosis is commonly made by examining the eyes for the presence of corneal crystals and is confirmed by measuring the level of cystine in blood cells.  Patients with cystinosis have cystine levels up to 100 times the level found in individuals without the disorder.

The condition is caused by the continuous accumulation of the amino acid ‘cystine’ found in every cell of the body in a compartment called the lysosome and, without treatment, cystine continues to accumulate and cause irreversible tissue and organ damage.

In people who don’t have cystinosis, the cystine and other amino acids such as lysine are naturally eliminated from the body.

A normal lysosome where cystine and lysine are produced and eliminated through the lysosomal membrane

(L) Untreated lysosome where cystine cannot exit (R) Untreated cell is destroyed as cystine accumulates








(L) Untreated lysosome where cystine cannot exit  (R)  Untreated cell is destroyed as cystine accumulates


The primary goal of treatment is to preserve the organ functions for as long as possible and adherence to medication on a 24-hour basis is critical. Cystine-depleting medication may help delay progression of the disease and specialized eye drops are required. 

As patients age and kidney function declines, patients are eventually placed on a transplant list. 

The outlook for cystinosis patients has improved considerably over the past few decades but there are still many challenges. 

Olivia must take her medication every six hours in addition to eye drops.  It is a commitment by the entire family.  “Olivia has to have her medication at 7am, 1pm, 7pm and 1am,” says Erin Little. “It’s a 10 minute procedure but it must be done at exactly the same times including the middle of the night.”

The inspiration

Olivia was born a healthy 7lbs.14oz and measured 20 ½ inches long. Olivia did everything “normal” babies do; she smiled, laughed, rolled over, babbled and played.

However, that soon changed around six months when she found a love for water and hated food. Olivia had zero interest in food and this soon became a daily battle. The doctors kept encouraging her parents to keep trying new foods, to keep the environment calm and to limit her water intake. However, by nine months Olivia’s mom Erin knew something was not right. Olivia was no longer thriving as she had been up until now. Olivia still hated eating and would drink her way through meals, but thankfully Olivia loved her bottle. She soon learned the word water or as she called it ‘wawa’.

It was shortly after this, in 2011, that Olivia was rushed to the hospital in kidney failure and the Littles received the devastating diagnosis that Olivia had cystinosis.

Olivia’s daily regime

Olivia’s day begins at 7:00 a.m., whether she likes it or not. It’s time for her daily dose of vitamins (medication) as Olivia’s parents refer to them as. Olivia receives 44 different vitamins every single day. The vitamins must be given every six hours around the clock, every day.

Along with the strict schedule, Olivia must always have access to water. On an average day, she drinks approximately two gallons of water. With such large amounts of water she doesn’t travel far from a bathroom.

Liv-A-Little Foundation Mission

Liv-A-Little is committed to supporting the advancement of treatments and ultimately a cure for cystinosis, by educating, promoting and funding progress.

Unfortunately, because there are so few diagnosed with Cystinosis, government funding into research of the disease is little to none, therefore, the upcoming golf tournament on September 22nd at Saugeen Golf Club , in conjunction with the Saugeen Shores Winterhawks hockey team, will see the funds going to research. 

“Every dollar we try to raise,” says Erin Little, “goes directly to research for Cystinosis.  No one else, including our family, benefits.  We must find a cure for this disease and therefore, 100% of all monies raised go toward that research.”

Associated Links