TG is a 32-month-old girl with a rare lysosomal storage disease. The diagnosis was confirmed at 8 months of age; she underwent bone marrow transplant at 14 months. TG's father remained at home with her siblings whereas her mother lived at the transplant hospital with TG for 1 year. Significant respiratory infections led to dependency on a tracheotomy and ventilator. She was transferred to the current hospital 10 months ago for respiratory rehabilitation, which has been complicated by pulmonary hemorrhages.
On examination, TG was in a wheelchair with truncal support and leg splints. She is a small child with coarse facial features, generalized hypotonia, and significant joint restriction. She exhibited intermittent repetitive arm movements. A tracheotomy was in place, and she did not vocalize. Variable levels of alertness were observed although she rarely signaled to others for social engagement or to express her needs. Eye contact was limited and she responded inconsistently to her name.
TG's mother states that her daughter interacts well with her and uses a number of signs for communication. The rehabilitation staff reported limited progress and recommends withdrawal of services. TG's mother expressed frustration with her daughter's poor developmental improvement and believes she needs more intensive therapy, not less.
Staff members are now frustrated with TG's mother's level of involvement with her daughter's care. Although TG's mother spends full weekdays at her daughter's bedside, she is often working on her computer managing her business. TG's father works full time and visits on the weekends, when her mother returns home. TG's mother has expressed frustration with her daughter's level of improvement; she believes TG needs more intensive therapy that the hospital is not providing. She informed the staff that other children with this type of storage disease may have delays, but are often higher functioning. TG's mother made the point to the staff that the family's reason for pursuing a bone marrow transplant was to attempt to correct the enzyme deficiency and improve her daughter's outcome.