Most children will require at least some equipment.
The most common equipment used in for the NGLY1 patients are: Adaptive stroller or wheelchair, therapy chair, stander, walker or gait trainer, bath chair, toilet chair, splints, orthotics, glasses, hearing aids, cooling vest, DMO suits, vibrating vest for airway clearance, electronic communication devices, and special beds. Many families will at some point choose to modify their houses and cars to make them accessible.
Some children will require a G-tube for feeding, a BiPAP at night, and a central line (such as a port) for administering medication. Some kids may qualify for private duty nursing care.
Most children also benefit from being seen by a team specialised in assistive technology.
However patients benefit greatly from a variety of therapies to maintain or gain function, such as:
- Physical therapy: Working on strength, functional mobility, bone density, preventing contractures and scoliosis.
- Occupational therapy: Working on tasks of daily living such as self-feeding, self-care, fine motor tasks as well as sensory regulation.
Speech therapy: Some patients speak, all will benefit from oral-motor exercises that are also crucial for chewing and swallowing as well as sound production.
- Speech therapy: Specializing in augmented and alternative communication (AAC) will be able to assist with choosing and setting up a speech generating device.
- Hearing and vision therapy: As hearing and vision are most likely affected in most patients, they will benefit from specialized services addressing the question how the environment should be structured so they can maximise their auditory and visual input (like minimising background noise allows people with auditory neuropathy to listen without getting overwhelmed).
- Other therapies: Several patients have been making gains through hippo, aqua, and Galileo therapy.
The complexity and rareness of this condition poses a challenge for schools. It is important to stress that just because NGLY1 patients may be severely impaired in different ways, it doesn’t mean they lack cognitive abilities in the same way.
Most will be taught in special education programs with a focus on life skills. They benefit from a small student-teacher ratio and teams experienced with alternate communication systems.
Social skills are a relative strength for NGLY1 patients. They love to connect with other people and can have an amazing sense of humor. Although every patient is different, they all seem to share a love for colorful plastic toys that spin and rattle, balls, the color red and the iPad (watching shows like “Elmo’s World” or playing with apps).