SMA Management in the Medical Home

A newborn with SMA requires lifelong health management and a multidisciplinary approach. As the child’s medical home, the primary care provider coordinates the patient’s care in partnership with the family and appropriate specialists and subspecialists such as a pediatric neurologist; pulmonologist; respiratory therapist; orthopedist; genetic counselor; speech, physical and occupational therapist; dietitian; and social worker. Genetic counseling, an important component of SMA follow up, should offer carrier testing of family members and preconception/prenatal testing of future pregnancies.

When newborn screening results are out of range, the Clinical Care Coordination staff at DSHS monitors the case until the baby is cleared or a diagnosis is determined. If confirmatory testing determines the presence of SMA, the primary care provider should make a series of referrals for additional evaluation, treatment and support. Clinical Care Coordination staff will provide a list of clinical resources with expertise in treating SMA in the primary care provider’s geographic region, including pediatric neurologists and neuromuscular specialists.

• Genetic counseling is strongly encouraged to assist with test results interpretation and disclosure, counsel the family about genetic inheritance, identify at-risk individuals and review recurrence risk and prenatal testing options.

• A care team consisting of specialists such as geneticists, neurologists, pulmonologists and therapists should be assembled to evaluate, monitor and treat the newborn.

• The family should be referred to support services like those listed below. Some areas of the state have pediatric neuromuscular clinics, which can provide some multidisciplinary care. Note that a referral to Early Childhood Intervention, which is described below, is legally required for children ages birth through 35 months. Children ages 3 years and older should be referred to the local school district for services.

State Programs that Support Children and Families

The medical home provides ongoing care coordination throughout childhood and adolescence. Several state programs are available in Texas to provide services to children diagnosed with SMA:

• Early Childhood Intervention (ECI) is a statewide program for families with children birth through 35 months who have disabilities and developmental delays. All health-care providers are required by federal and state regulations to refer children 35 months and younger to the local ECI program as soon as possible but no later than seven days after a qualifying diagnosis or the suspicion or identification of a developmental delay. ECI provides family support and specialized services to improve the family’s ability to access resources and improve their child’s development.

• The Texas Education Agency’s Early Childhood Special Education (ECSE), formerly known as Preschool Program for Children with Disabilities.

• The Case Management for Children and Pregnant Women program serves children birth through 20 years who are enrolled in fee-for-service Medicaid and have a health condition or health risk, and women of any age with a high-risk pregnancy. Patients receive assistance with accessing health-related resources and services, educational services, vocational services and psychosocial services; financial assistance; and transportation services from case managers. Patients enrolled in a Medicaid health plan should be referred to their health plan for case management services.

• The Texas Health Steps Comprehensive Care Program provides diagnostic and treatment services to children enrolled in Medicaid. The program provides any medically necessary health-care service that corrects or improves the patient’s disability, physical or mental illness or chronic condition, even if the service may not be available to other individuals enrolled in Medicaid in Texas.

• The Newborn Screening Benefits Program provides services for children who require confirmatory testing or who are diagnosed with a screened disorder such as SMA. Children must also meet other eligibility requirements to qualify for the program.

Case Example

A Physician’s First Case of SMA

Dr. Belgrade, a Texas Health Steps provider, receives a call from a DSHS newborn screening nurse with notification that one of the doctor’s newborn patients has an out-of-range SMA screen. The nurse provides Dr. Belgrade with the results of the newborn screen, contact information for the parents and information about SMA specialists who can perform additional testing and management. The nurse also emails the state’s SMA FACT and ACT sheets to Dr. Belgrade and provides a return phone number so Dr. Belgrade can update DSHS after contacting the family and making a referral to an SMA specialist.

Dr. Belgrade recalls that SMA is a progressive, neurological condition affecting an individual’s motor neurons. She recalls that initiating therapy as early as possible is the only way to prevent motor neuron loss. Dr. Belgrade immediately contacts the parents to inform them their baby’s newborn screening results indicate the possible presence of SMA. “The baby needs to be evaluated as soon as possible,” Dr. Belgrade says. The parents are surprised and express their concern for their baby.

“Babies who have SMA may look normal and have no symptoms, but with time they can become very sick,” Dr. Belgrade tells them, and adds that more testing is needed to confirm whether the baby has the condition. “This testing can also provide key information about what to expect if SMA is confirmed. So I am referring your baby to a specialist.” The parents ask if SMA has a cure. “There is currently no cure,” Dr. Belgrade says. “But new treatments, such as gene therapy infusions, are changing how people live with the disease.” Dr. Belgrade also tells the parents she is making a referral to ECI because the baby is at risk for developmental delays.

Dr. Belgrade tells the parents that the specialist will contact them to set up an appointment. She also tells them that ECI also will contact them about an appointment. The parents agree to the plan.

At the neurologist’s office, the parents meet with a genetic counselor who provides more information about SMA. The neurologist examines the baby for any early signs of SMA. A blood sample is collected for confirmatory testing as well as additional testing to determine whether the baby qualifies for new gene therapy.

Meanwhile, Dr. Belgrade completes the ECI referral, well in advance of the legal requirement to complete a referral within seven days.

Four days later the neurologist receives the lab results that show the baby has SMA type 1, a severe type with onset typically in the first 5 months of life. The AAV9 titers are negative so the baby qualifies for onasemnogene abeparovec-xioi. A genetic counselor contacts the family with the results while the neurologist prepares a letter of medical necessity to the baby’s medical insurer to obtain prior authorization for the gene therapy treatment. The neurologist asks for a STAT decision and the payor responds within 24 hours with approval.

The baby receives the drug at an infusion center. The parents are grateful for the DSHS newborn screening program, Dr. Belgrade’s care and the neurologist’s clinic for the fast diagnosis and treatment. “We will always be concerned about our baby’s future health, but we are so relieved to have received this gene therapy so quickly,” they write in a letter to Dr. Belgrade.