CLINIC I A N TAS K F O R CE
TEAM EAKIN: WINNING THE FIGHT WITH “TREATED SMA TYPE 1” Written by: COURTNEY YOUNG 1, ROSLYN LIVINGSTONE 2, AND GINNY PALEG 3
Spinal muscular atrophy (SMA) is an inherited neuromuscular disease that causes progressive muscle weakness. It affects approximately 1 in 10,000 babies born in the United States and approximately 1 in every 50 Americans is a genetic carrier1. Type 1 (Werdnig–Hoffmann disease) is the most common and severe form of SMA, and the untreated child never develops independent sitting1. Few children lived past their second birthday only a decade ago. Today, many states test all newborns for SMA. The main culprit in SMA is a mutation in the survival motor neuron gene 1 (SMN1). As a result, survival motor neuron (SMN) protein is not produced at high enough levels to prevent motor neuron cells shrinking and dying, leading to potentially fatal muscle weakness2. Over the past few years SMN-enhancing medications have dramatically lessened the severity of SMA type 1 - Spinraza, Zolgensma and Evrysdi are all currently approved by the Food and Drug Administration (FDA). Infants who receive these medications in the first six months of life often are able to sit, talk, eat, and breath, and some can even take steps. Once a child with SMA type 1 is treated, physical therapists (PT), occupational therapists (OT) and early intervention providers should work with families and caregivers to increase their participation in family and community routines. The focus should be on fun, childactive and child-directed activities that are delivered by the caregiver including: early supported sitting for reach and grasp (initiated at 3 months old); toys that require kicking and leg movement; early weight-bearing (initiated at 9 months); and early mobility (initiated at 9 months). The whole medical and educational team should monitor the child frequently for contractures, scoliosis and hip health and be proactive in identifying orthotic and equipment needs to enhance participation and promote development. A newly published literature review used a Bryce and James are superheroes in the fight against spinal muscular atrophy type 1.
case study to highlight how durable medical equipment can enhance quality of life with children with ‘treated’ type1 SMA3. Here we share the equipment journey for Bryce Eakin and James Eakin, twins with SMA type 1.
MEET TEAM EAKIN: Bryce and James were diagnosed with SMA at the age 6 months and entered a trial for Spinraza at Boston Children’s Hospital. The boys remained in the trial, until the drug was approved by the FDA. They remain in the trial and return every four months for Spinraza infusions. Bryce and James received early intervention service from infancy, through the county and outpatient services. Their transdisciplinary team (including physical, occupational and speech therapists,, orthotists, equipment and mobility specialists, neurology, and orthopedics) worked closely to help the boys access devices that supplemented their physical abilities, enhanced participation, promoted social and emotional development, and ultimately supported developmental progression. Initially, equipment used was “off-the-shelf,”noncustomized toys and positioning aides to promote vision, musculoskeletal health, postural alignment and mobility. As the boys grew, their orthotic and equipment needs increased. The Eakins used social networking within the SMA community, various special needs platforms, community resources and the knowledge of their treatment team to explore appropriate options. Orthotics were a vital component of the twins early therapeutic intervention and remain a significant aspect of their care. The boys were fit with bilateral solid ankle-foot orthoses (AFOs) and thoraco-lumbarsacral orthoses (TLSOs) around age 12 months. These promoted alignment in the spine and hips and helped prevent contractures, which are common in SMA3. The TLSOs assisted the twins during supported sitting initially and then in achieving independent sitting around 2 years of age. The Pediatric Movement Center Frederick and Hagerstown, Maryland 2 Sunny Hill Health Centre, Vancouver,CONTINUED British Columbia, ONCanada PAGE Montgomery County Infants and Toddlers Program, Rockville, Maryland 1
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DIRECTIONS 2021.2
