There is no cure for RCDP however research is being carried out in the United States into potential treatments.
Doctors and therapists can help manage the symptoms of RCDP.
It is important a child has the level of ‘phytanic acid’ in their blood measured. If the result is unusually high the child should follow a low-fat diet. Phytanic acids are found in high-fat dairy products and oily fish.
Nutritionists will suggest alternatives and should come up with the best possible diet for RCDP children.
Breathing issues are common in children with RCDP. Respiratory infections such aspneumonia, and aspiration (inhaling liquids or solids into the lungs) may affect sufferers. Some children have heart defects.
Cataracts can be removed in infancy through surgery.
Physiotherapists and occupational therapists can help relieve the symptoms of a child’s unusual skeletal development such as ‘scoliosis’ (side to side curvature) of the spine and joint stiffness.
Many children with severe RCDP will never be able to sit unsupported. Physios and OTs can suggest equipment that will help a child live as full and comfortable a life as possible.
Some sufferers have a tendency to overheat even when it is cold. Temperature should be monitored, sheets can be provided that moderate temperature while a child is sleeping.
RCDP is caused by a defect in the Pex7 gene. The condition is ‘autosomal recessive’ (in 99.9% of cases) so both parents have the defective gene.
Thereis a one in four chance a sibling of an RCDP sufferer will have the disorder too. There is a 50 per cent chance of a sibling being an unaffected carrier of the abnormal Pex7 gene.
RCDP is classed as a ‘peroxisomal’ disorder. ‘Peroxisomes’ are little structures within cells whose function is to break down chemical and convert them to forms the body can use. Because the peroxisomes in RCDP sufferers aren’t working properly there is a build-up of chemicals normally broken down.
It is not yet known exactly how those build-ups cause the problems associated with RCDP.