Toolkit offers quick access to SCID diagnosis and treatment

Families seeking information about severe combined immunodeficiency (SCID) who want quick access to the basics of diagnosis, treatment, and what to expect in the future can now find what they’re looking for in the SCID Compass Toolkit.

The SCID Compass toolkit is a downloadable summary of the site focusing on the six most important sections:

Understanding SCID.
Exploring treatment options.
Navigating a hospital stay.
Coping with post-treatment.
Returning home.
Planning for the future.

SCID Compass created the six sections based on information obtained from parent interviews. Parents pinpointed these junctures in the SCID journey as key moments when they need easy-to-understand explanations of complicated medical and scientific terminology and an overview of what to expect following a SCID diagnosis.

The toolkit explains that SCID is a rare condition. Most babies with SCID lack T cells and do not have a functioning immune system. SCID is a pediatric emergency and is usually fatal unless treated within the first year of life. More than 20 different types of genetic mutations cause SCID, and every case of SCID requires a different treatment approach.

All 50 states now include SCID on newborn screening tests and diagnosis generally occurs shortly after birth, allowing treatments to start early. The toolkit describes how treatment is usually a bone marrow transplant (BMT), but some families opt for experimental gene therapy if they are eligible for clinical trials. Babies with a certain kind of SCID called ADA-SCID use enzyme replacement therapy (through weekly injections) before deciding on a more long-lasting treatment.

Families face lengthy hospital stays from weeks to months, depending on the success of the BMT or gene therapy. The toolkit outlines complications that can occur from treatment. Babies may suffer from infection before the transplant, side effects of chemotherapy administered prior to transplant, graft versus host disease in which the donor stem cells provided during the transplant attack the organs of the baby, and failure of the transplant.

Another topic covered by the toolkit is isolation. Throughout diagnosis and treatment, the baby must stay in isolation to prevent exposure to germs that could cause infection. Only parents or designated caregivers are allowed to be with the baby at the hospital. When the baby arrives home, isolation for a period is also necessary while the new immune system is established in the baby.

Other topics covered by the toolkit include:

Ways to advocate for the baby
How to seek support
Addressing mental health needs of the parents

The toolkit also addresses long-term challenges that parents might encounter months to years after diagnosis and treatment. Parents are encouraged to seek evaluations for their toddlers or school-age children should they suspect delays in speech, learning, motor skills, or other areas of development. Families should also complete the process for special education services in school.

The SCID Compass Toolkit is viewable online, or parents can download a PDF version to print. Additional resources in the toolkit include:

Explore the SCID Compass Toolkit.