Impact Stories
John’s Rare Diagnosis: Early Intervention + Perkins School for the Blind Partner to Provide Support and Services

Background
At ~three months old, John’s parents noticed his eyes moving rapidly back and forth. They consulted with their pediatrician, who referred him to Boston Children’s Hospital. There, he was seen by neurology, ophthalmology, and genetics. John was diagnosed with achromatopsia and nystagmus, and later a rare genetic variation. With complete achromatopsia, John sees black, white and grey, and nystagmus causes objects to appear blurry.
Early Intervention Services
With John’s diagnoses, John and his family qualified for Early Intervention Services and Cara McAuliffe, a Developmental Specialist (DS) and Child Life Specialist (CLS) was assigned as Service Coordinator and to lead their EI multi-disciplinary team. Cara immediately contacted Early Intervention’s partner, Perkins School for the Blind, to offer services and support to John and his family.
Specialists to Help John and His Family
For John and his family, the team of early intervention specialists included a developmental specialist, an occupational therapist, consultations from a physical therapist (PT) and speech language pathologists (SLPs) over the 2.5 years of EI services provided to John and his family.
At weekly sessions, the EI team would focus on challenges or needs expressed by the family while also seeking feedback on ideas and strategies that had been suggested to work on from the prior week.
Initial sessions focused on tracking to identify range of sight and to help John develop the ability to see each parent’s face and track their face as they moved from side to side and back and forth. To gauge his ability to see in various lighting, specialists moved John to various rooms or positions to gauge the impact of various lighting on his visual attention.
Several months later, the EI team was working on his motor skills, specifically helping him learn to crawl. For visually impaired infants, crawling can be challenging due to the change in position. John enjoyed playing in a variety of positions, such as on his tummy or sitting. However, John was not used to being on his hands and knees without support on either his back or tummy. During weekly sessions, the team tried placing a hand on his tummy while John was placed in the crawling position. That slight feeling of support gave John the confidence and ability to crawl; his motor skill development progressed naturally to walking and running.
Various strategies were offered over the months working as a team with the Perkins School for the Blind TVI to offer support and strategies on vision as well as feeding and motor skills.
John’s family leveraged many available resources offered by Perkins School for the Blind, participating in virtual parent and child playgroups during COVID. They also completed an Orientation and Mobility Consult offered to children 2 ½ years to three years old to prepare for transitioning to a new environment in pre-school. This consult helps toddlers and their families prepare for how John would safely navigate a new preschool space.
Helping toddlers and their families prepare for the transition from Early Intervention Services which end at three years old is an important focus of our EI services provided to every family. Cara was a constant for John and his family from infancy to planning for his transition to preschool while working closely with the TVI from Perkins School for the Blind who was also instrumental in the transition planning process.
Benefits to Child and Family
Today, John has successfully transitioned to public preschool in Andover, MA. Cara reflects on how she is so proud of his growth and development. “John is a very bright little boy who is amazing at identifying patterns, matching colors based on the variations of grey that he sees. I look back on meeting him at four months old to today as I remain in touch with his family to hear updates on his progress. He can accomplish anything he chooses to do, and I am so thankful for the opportunity to have worked with him and his family during this important developmental timeframe.”
Being a new parent can be challenging enough, but when your child is diagnosed with a vision impairment, it seemed overwhelming. Early Intervention and Perkins entered our lives at one of the most difficult times and through their amazing staff, we watched our son not only grow but thrive as a boy excited and curious about the world all while we became confident to face any challenges to come.
– Derek and Meghan, Parents, Andover, MA
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