Originally written for the IDF SCID Newborn Screening Blog
My son Ray was born with XSCID, but since there was no family history of the disease, he was not diagnosed until he was so sick with pneumonia that he was on a ventilator. He has permanent organ damage because of infections he was unable to fight off on his own. He is also hearing impaired from antibiotics used to fight off infection. There was no newborn screening test available when Ray was born. Had there been one, things could’ve been very different for him. That is why I am so determined to see newborn screening for SCID become a reality, not only in Virginia, but in all 50 states. I don’t want another family to have to go through what our family has gone through. Newborn screening for SCID is critical to the survival of children with SCID and to the quality of life for children like Ray.
To find out where Virginia stood when it came to adding new tests, I started by contacting Sharon Williams the Virginia Genetics Program Manager for the Virginia Department of Health. She told me that in 2006 Virginia passed a resolution to keep the state’s screening program in compliance with ACMG recommendations. This was great news. It meant that Virginia would not have to pass a new law to add a new test.
Planning to add a new test is only the first step. There are many more pieces which must fall into place before infants in the Commonwealth will be routinely tested. Funding for not only the testing process, but also the necessary follow up is an important piece of what must be put in place. The Genetic Advisory Committee for the Commonwealth of Virginia will meet in October in Richmond. I plan to attend that meeting. I hope to learn how long it will take Virginia to put all the pieces in place and if further grass roots action will be necessary to push the process forward. If anyone else is interested in attending the meeting, let me know by leaving a comment to this post.