After a delay of more than two years because of the pandemic, SCID Compass representatives and medical professionals met with members of the Amish community in person to spread awareness about the importance of diagnosing and treating severe combined immunodeficiency (SCID). SCID, a life-threatening primary immunodeficiency in which a baby is born without a functioning immune system, is prevalent in the Amish community and other close-knit populations due to the founder effect.
On July 7, about 30 participants, representing 13 Amish families, attended SCID Family Day, sponsored by both IDF’s SCID Compass program and the Clinic for Special Children, a health clinic that serves the Amish and Mennonite communities.
During the day-long event, held at the Strasburg Mennonite Church in Lancaster, Pennsylvania, a panel of medical professionals spoke on a range of topics related to SCID from immune system basics to genetic testing. SCID Compass representatives distributed resources such as the SCID toolkit, a publication that provides details of what to expect during SCID diagnosis, treatment, and recovery.
The Clinic for Special Children offered attendees the opportunity to undergo genetic testing using the plain insight panel, which requires a blood sample to determine carrier status for a variety of genetic conditions including SCID. The Clinic also encouraged community members to join an HLA registry, important for determining tissue matches for bone marrow transplant, the accepted treatment for SCID.
Pediatric allergists/immunologists, state laboratory directors, and genetic counselors provided overviews explaining: how the immune system works; newborn screening and the importance of early treatment for SCID; genetic testing for SCID; types of SCID, associated syndromes, and health issues common in the Amish community such as RAG 1 and RAG2 SCID, Omenn’s Syndrome, and cartilage hair hypoplasia; bone marrow transplant, HLA matching, and building a carrier registry; conditioning before bone marrow transplant; enzyme replacement therapy; and gene therapy.
Providers stressed the importance of isolation between SCID diagnosis and the beginning of treatment and how families should protect a baby with SCID from being exposed to potential infections. Keep the baby away from visitors and pets, wear masks, and consider not breastfeeding because of the cytomegalovirus virus (CMV), they advised. CMV is a common virus in adults, and while a healthy person’s immune system prevents illness from the virus, a baby with SCID could succumb to the virus.
Parents of children with SCID, and children and adults with SCID, traveled to the church to learn more about this rare genetic condition that disproportionately affects their community. One father told the story of how his first child died from SCID before newborn screening identified babies with SCID early in life. After the loss, he and his wife learned they were carriers and they sought testing at birth for their other children. The couple’s second child didn’t have SCID, but the third child did. She underwent treatment as a baby and is now a healthy 11-year-old.
“He explained that when members of the community know they are carriers they can better support their children and families, and how knowing makes it easier for doctors to do their quick work to help,” said Emma Mertens, IDF program manager of community health.
Mertens called the day a success and said that SCID Compass representatives handed out 75 SCID toolkits and 25 copies each of “A Zebra Tale” and “Our Immune System” (family-oriented IDF books about the immune system and primary immunodeficiency) to not only attendees but also to providers.
“When you do all of your work virtually, it’s hard to see the impact, so it was nice to be in the space and see people in person who had chosen to be there to learn about SCID,” said Mertens. “It was a good reminder of why we do what we do.”