Jessica

-->

Jessica is a 2 ½ year old girl who was evaluated at 7 months of age for failure to thrive and enlargement of her liver and spleen.  She was found to have Gaucher’s disease, a genetic (recessive) lipid storage disease, the manifestations of which are due to the absence of an enzyme.  She was seen in consultation at a Pediatric Research Center.  It was not known which of three types of this disease she has.  She was begun 19 months ago on a 6-month trial of a replacement enzyme, which is approved for and effective in preventing the manifestations of the disease in two of the three types of Gaucher’s disease.  The family was unable to return to the Research Center for the 6-month follow-up visit.  The treatment has been continued, and, at her parents’ urging, her dosage has been increased to higher than normal.  She has had frequent long hospital admissions (infections and seizures) and she has developed problems suggestive of progressive disease (including respiratory failure; she has been on a ventilator at home for several months) strongly suggesting to her physicians that she has the more severe type of this disease that does not benefit from enzyme replacement. 

On the other hand, her liver and spleen have decreased in size, she has survived longer than the average for patients with the more severe type (typically, death before age two), her parents point out that she has grown some, and they are convinced that she shows signs of neurologic development while at home.  However, during her frequent hospitalizations, she has shown minimal awareness; at best she smiles, responds to her parents, and follows simple commands.  She is currently at home and receives total parental nutrition, home mechanical ventilation, a morphine drip (for bone pain) and the intravenous enzyme every 14 days.

Jessica’s overall therapy is somewhat expensive, but her parents are easily able to afford it.  Both Dr. Burgess, Jessica’s primary pediatrician, and the research consultant believe the enzyme is no longer medically indicated.  In addition, Dr. Burgess is concerned that progressive disease and invasive treatments are causing her sufficient suffering that continued treatment might be inappropriate if it is merely postponing her inevitable death.

Jessica’s parents are her caregivers at home, and they have declined assistance from home nursing.  They have no other children.  Her mother no longer works outside the home so is able to be home full time, and her father has reduced his work as an accountant to part time in order to help.   Friends from their church are supportive and help the family in many ways.  You are the physician on the case, what do you do?