Having Fabry disease is especially difficult for children.  The early manifestations of Fabry disease such as pain in the hands and feet, lack of perspiration and subsequent overheating, recurring fevers, heat and cold intolerance, GI problems, exercise intolerance, and school avoidance may have a tremendous impact on living a normal childhood.  One study reported that the average age of Fabry disease complications in male children is 10.9 years of age, and somewhat later for females. There are cases of children having significant symptoms at a much younger age.  

Fortunately, with the availability of enzyme replacement therapy, children have an opportunity to avoid many of the quality of life and life-threatening complications of this disease.  If disease symptoms are recognized, appropriate treatment may be initiated earlier in the disease process.  Children can potentially live much more healthy, happy and longer lives.

When to initiate ERT in children is an area in which clear, evidence-based recommendations are not available. However, the authors of the journal article cited below agree that, once the diagnosis is confirmed, it is important to institute treatment at the onset of clinically significant symptoms. Boys who have few symptoms should be considered for ERT around the age of 10�13 years, but some patients begin treatment earlier based on progression of symptoms.  Females (all ages) should be monitored for the presence of significant symptoms or evidence of progression of organ involvement.

The timing of ERT initiation in children should be a collective decision between medical professionals, family, and the individual considered for treatment.  It is difficult to weigh the burden of beginning bi-weekly intraveneous infusions at an early age against the  risk of the onset of the potentially life-alterning and life-threatening complications of Fabry disease.  Refer to the journal article below for more specific monitoring and magement recommendations.

There is increasing evidence that suggests that ERT is most beneficial in terms of clinical outcome when initiated early in the disease process, i.e., before irreversible changes occur in key tissues and organs, and it may be anticipated that the incidence of serious complications may be reduced.

Note: The primary sources of this information are the September, 2006 Genetics in Medicine journal article entitled "Fabry disease: Guidelines for the evaluation and management of multi-organ system involvement" (link below), and the expert opinion of the NFDF medical advisory board.

GRANTS AVAILABLE FOR FAMILIES STRUGGLING WITH CHILD HEALTH-RELATED EXPENSES

A healthy diet for kids