Boy with CMMRD Syndrome Gives Back for the Holidays

Yash Cary knows what it’s like to spend the holidays in the hospital. In fact, three of his last six Christmases have been at UNC Hospital. This is because Yash has constitutional mismatch repair deficiency (CMMRD) syndrome, a rare disorder that puts one at a higher risk of developing various cancers. While Yash gets to spend this Christmas at home, he knows that plenty of other children will have to celebrate the holiday in their hospital rooms. Because of this, he asked for donations for those children to brighten their holiday.

About Constitutional Mismatch Repair Deficiency Syndrome (CMMRD) Syndrome

CMMRD is a rare disorder that puts affected individuals at a higher risk of developing certain cancers, specifically colon, rectum, blood, and brain cancers. Nearly every person with this condition develops cancer before the age of 18, and there is a 20-40% chance that they will have another cancer later in their life. Besides a higher chance of cancer, symptoms include benign growths in the colon that can turn malignant, changes in skin pigmentation, and benign growths on the iris in rare cases. These symptoms can be the result of numerous genetic mutations, with an altered PMS2 gene being the most common cause. Other cases are caused by mutated MLH1, MSH2, and MSH6. The similarity between these genes is that they are all DNA mismatch repair genes, and when they are altered they allow for issues in the DNA that lead to uncontrolled cell growth. They are also all inherited in an autosomal recessive pattern.

Christmas in the Hospital

The Cary family has spent a lot of time in the hospital, as both of their children were born with CMMRD. However, like many other rare disease patients, a diagnosis did not come until the two children had experienced symptoms for years. One of the reasons that the diagnosis took so long was the rarity of the children’s mutation; only three people in the world share this genetic alteration.

Because they know what it’s like to spend the holidays in the hospital, they wanted to give back. For years they have asked for donations during Diwali, which they then bring to the doctors, nurses, and other patients at UNC Hospital. Over the years, these people have become family.

For Ira Cary, these people were all she knew. Sadly, she passed away two years ago at age four. She was impacted by other rare diseases along with CMMRD. It is her feistiness and bravery that inspired her family to start donating gifts to the hospital. She was on their minds when they delivered an entire U-Haul full of gifts, making a happier holiday for a lot of other children.

Read more about the Cary’s story here.

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