Susan Lottes, mother of three children born with SCID, spoke at the Georgia Newborn Screening and Genetics Advisory Committee on November 19, 2012 along with her sons’ immunologist, Dr. Lisa Kobrynski of Emory Children’s Center and Emory University School of Medicine. Susan told the members of the Committee, gathered to discuss the possibility of recommending the state add SCID to the newborn screening panel, about her experience giving birth to children with SCID before screening was a possibility:
Regan Vance Lottes was born in 1990 with a normal birth weight. He did not have symptoms for his pediatrician to see the devastating toll SCID would have on our family. Regan’s first life threatening infection occurred at age 3 months, and he was never healthy again in his five and a half-year life. He was diagnosed with SCID at age 5 months. He required another 3 weeks of care to come off a ventilator and be airlifted halfway across the country for treatment.
Unfortunately, treatment is much less effective if the baby has endured infections before Bone Marrow Transplant. Regan never engrafted enough of my immune cells to be free from chronic infections. Despite living in isolation for 3 years, Regan was never able to eat normally or be free of pain and illness. He had a button in his belly that we fed him through, but he was underweight and weak his entire life. He died from his last infection after a horrifying month in PICU in 1996.
His twin brothers were 8 months old when we lost our precious Regan.
Jake and Ben were diagnosed with SCID 5 months before they were born. We knew to look for it because their brother had the genetic birth defect. delivered them into isolation, and they were transplanted at 10 days of life. We lived at the Ronald McDonald House while they engrafted. Ben is 6’1” and plays basketball. Jake has Regan’s gorgeous curls and sparkling personality. They are juniors in public high school. Friends are stunned to find out their medical history because they look too healthy to have had a life threatening birth defect.
With Jake and Ben, our lives are focused on preventing illness. With Regan, we could only react with increasingly aggressive and complicated treatment.
I continue to hear stories similar to Regan’s repeated across the country. I am honored to be part of the process to prevent future suffering, and I thank you for your time and efforts.
Following Susan’s powerful testimony and discussion from the medical experts, the Advisory Committee voted to recommend newborn screening for SCID be adopted in GA! Dr. Kobrynski and the Department of Public Health are currently working to finalize their plans in order to be considered during the 2013 legislative schedule.
A huge congratulations and thank you go to Susan, Dr. Kobrynski and all others who will continue to work until SCID newborn screening is fully implemented in Georgia!
To learn more about the IDF SCID Newborn Screening Campaign and how you can get involved in your own state, check out the website: http://primaryimmune.org/patients-and-families/idf-scid-initiative/idf-scid-newborn-screening-campaign