These are the genetic conditions afflicting Matthew Ouimet and Alyssa Welch:

Matthew Ouimet

  • Age: 2

  • Disease: Primary hyperoxaluria Type 1, a rare genetic inherited disorder that is present at birth and estimated to occur in every 1 in 1,000 to 1 million people. It is an autosomal recessive disease, which means that it was passed on by parents who carry the gene but are not affected themselves.

  • People who have the disease lack a liver enzyme. The absence of the enzyme results in an accumulation of excess amounts of oxalate. The organ that suffers most is the kidney. Patients typically suffer from kidney stones anywhere from birth to the mid-20s. When very large amounts of oxalate are present in the urine, such as in primary hyperoxaluria, the kidneys can be damaged to the point that they stop working. When excess oxalate builds up in the blood, it also can spread to the eyes, bones, blood vessels, heart and other major organs.


    Alyssa Welch

  • Age: 15


  • Disease: Autosomal recessive polycystic kidney disease, a genetic condition that causes the growth of numerous fluid-filled cysts in the kidneys. These cysts slowly replace much of the mass of the kidneys, reducing kidney function and leading to failure. It is estimated to occur in 1 in every 20,000 to 40,000 people. Children born with the condition usually develop kidney failure within a few years. The severity of the disease varies.

