The diagnosis of Congenital Adrenal Hyperplasia can be immensely difficult to cope with, especially if the infant presents unwell with associated salt-losing crisis. The need for education verbally and in written format is paramount. This needs to be staged and ongoing, with regular updates.
New parents often need advice on general baby care/bonding. Add to this instruction on how to manage the condition, and things can become overwhelming. Practical advice on when/how to give medications is required. Administration of salt supplementation causes anxiety and confusion. Infants require frequent blood sampling to assess control. Parents need to know how to deal with repeating doses, missed doses, symptoms which might indicate that replacement is not being effective, and, how to seek help.
As the child develops new issues arise - immunisations, childhood illnesses, intercurrent infections, acute incidents, and manipulation of medication doses that may be required. Training on indications/use of an emergency kit is a necessity. Integration into nursery/school brings its own concerns - expectations regarding their child's safety, being different, being ostracised, and exposure to illnesses/accidents.
Parents will have questions about short and long term prognosis/outcomes. What/when to tell the child; concerns regarding growth/fertility; monitoring methods. Parents may have their own personal questions concerning blame and recurrence in future pregnancies.
As childhood years proceed responsibility transfers from parents to child which requires ongoing support. Management in adolescence can be fraught with conflict: re-education, compliance/loss of control, parental desires of not wanting to let go versus child's desires of independence and doing the same as their peers.
Establishing the diagnosis, albeit an intense time for the family is only the start of what will become a very steep learning curve. The aim is to instil confidence to develop a child's full potential, without labelling of disability and with minimal negative impact on integration into society.
22 - 24 Mar 2004
British Endocrine Societies