Now that screening for severe combined immunodeficiency (SCID) is taking place in all 50 states, more babies are being diagnosed and the landscape of SCID – from diagnosis to treatment to follow-up – is rapidly evolving.
In order to address changes surrounding a diagnosis of SCID, parents, healthcare providers, state health laboratory representatives, and SCID Compass project partners recently gathered together for the inaugural SCID Compass Key Opinion Leader (KOL) Roundtable discussion.
The purpose of these roundtable discussions is to allow different segments of the SCID community to provide input on improvements and advancements in SCID, as well as to discuss roadblocks to treatment and diagnosis. These discussions can generate ideas on how best to meet challenges within the SCID world.
Three subjects were discussed during the initial meeting:
- How to assist families with children diagnosed with SCID-like conditions
- How to overcome cultural and linguistic barriers in sharing SCID information
- How to address SCID diagnosis in premature babies
As the number of babies diagnosed with SCID through newborn screening increases, so does the number of infants born with SCID-like conditions. While newborn screening indicates a baby might have SCID, it could also be a marker for a different condition, such as congenital athymia associated with DiGeorge Syndrome (also called 22q11.2 deletion syndrome), CHARGE Syndrome, FOXN1 deficiency, and idiopathic T cell lymphoma. In all of these conditions, babies have low or no T cells. Participants agreed there is a need for information and support with many of those conditions, and SCID Compass may fill the gap to some extent.
Cultural and linguistic barriers exist when trying to explain diagnosis and treatment options to certain communities, particularly the Plain communities such as the Amish. The KOL discussed how the Amish speak both English and a dialect of German (children learn only the German dialect until kindergarten). The combination of the language barrier along with providers having to describe complicated medical terms poses challenges when explaining SCID. It was determined that in-person meetings with the communities and specially designed materials could help increase knowledge of SCID within the Plain communities.
The final item discussed was SCID diagnosis in premature babies. There is no clear protocol across the states in diagnosing premature infants with SCID. In Wisconsin, for example, preterm babies are screened every two weeks, and if the test yields abnormal results three times, the infant is sent for confirmatory testing for SCID.
One participant explained how the Association of Public Health Laboratories is conducting a quality improvement project to examine the high number of false positives generated by the premature baby population. The goal is to come up with recommendations that reduce the number of times a preterm infant is screened, leading to more accurate diagnoses for the babies.
The SCID Compass KOL convenes again on February 4.