CARY, N.C. — Ahead of the holidays, Parvathy Krishnan and her son Yash are organizing gifts.
What You Need to Know
North Carolina is the sixth state to pass this legislation
The state has to add new diseases and conditions to the testing list within three years of being added to the national recommendation list
North Carolina currently tests for 32 of the 35 recommended conditions
They’re in their sixth year of gathering and giving out gifts to children spending the holidays in the hospital. The idea came from personal exeperience.
Yash has a rare genetic disorder called Constitutional Mismatch Repair Deficiency Syndrome. It manifests itself in different forms of cancer.
“I’m sure there are other 13 year olds and other kids there, and it’s not only, because it’s not the present,” Yash said. “It’s just, sometimes, let’s say if you don’t get presents you can spend time with friends. In the hospital you can’t do that. There’s not much to cheer you up, especially when you’re in the hospital for Christmas.”
Krishnan and her husband, Iyer, lost their daughter, Ira, about three and a half years ago to rare genetic diseases.
“Our entire world was shaken when we came to know that both our children had genetic disorders that could not give them the life that we had envisioned,” Parvathy Krishnan said.
The family now advocates for expanded newborn screening. When children are born in North Carolina, they’re currently tested for 32 of the 35 conditions on the national recommendation list.
In the new state budget, there’s a change that has Krishnan excited.
“We have a lot more to do. Our job is not done, however, North Carolina is one of the few states who has passed this amazing law,” Krishnan said.
Now, North Carolina must add any new diseases and conditions to its testing list within three years of them being added to the national list.
“In the off chance that you are extra lucky like we are to have children who have a unique rare disease, getting that test will make sure that you give your child the best possible outcome that you can potentially provide for them,” Krishnan said.