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Improving patient care for rare diseases one blood spot at a time: Chloe's story

By lgallagher |

We've entered a video competition! 

The Canadian Institutes of Health Research IHDCYH Talks program is intended to improve knowledge translation of research. 

Here's a bit about our video:

Chloe was born with a rare, genetic condition called tyrosinemia type 1. This means that she cannot breakdown proteins from food, specifically the amino acid tyrosine, which causes a buildup of a chemical called succinylacetone (SUAC) in the body. High levels of SUAC can damage the liver and kidneys, so Chloe needs to take medication and eat a special diet to bring her SUAC level down to normal (close to zero).  With this treatment, Chloe will grow up to be as smart and healthy as other children her age. To make sure her medication and diet are working properly, doctors have to check her blood often. This means she would spend a lot of time going to the hospital for blood work. Researchers at Newborn Screening Ontario (NSO) wanted to find a way to make Chloe’s life better.

NSO is the provincial program that coordinates newborn screening for babies born in Ontario by collecting a small blood sample (a dried blood spot) after birth to screen for more than 25 rare, but treatable diseases. After screening, the samples are stored and can be used to improve the program and develop new tests, perform quality control measures, and generate new knowledge about rare diseases through research. If parents are not OK with their sample being used for these purposes, they can ask NSO to destroy their sample.  The stored dried blood spots helped researchers at NSO develop a test that can accurately measure SUAC levels from the dried blood spot. This means that Chloe can take a blood sample at home through a finger prick and send her sample in the mail to NSO for doctors to monitor her blood. Chloe is able to spend more of her childhood playing and exploring, and less time travelling to and waiting in hospitals.

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