Following on from my post last week I thought I'd look in to the diagnosis of CF
Cystic fibrosis is an autosomal recessive genetic disease that affects respiratory function and digestion. For a child to be affected by CF they must be homozygous recessive for the CFTR gene. This means that both parents must be carriers of this gene. Two heterozygous parents will have a 25% chance of having a child with CF at each pregnancy.
CF has no cure and average life expectancy for someone with CF in the UK is 41. For these reasons, the diagnosisof CF can be very difficult for parents of affected children to cope with. They will also find out that subsequent children are at risk. These issues must therefore be addressed in a sensitive manner by appropriate health care professionals.
Research topics could include
- communication skills of health care staff in diagnosis of CF and its implications
- the psychosocial support mechanisms in place to help parents cope with the diagnosis
- parent’s experience of genetic counselling
- Impact of a diagnosis of CF on the family dynamics/relationships
- Implications of ‘carrier status’ for future family planning
A possible research question for a study could be: How effective are support mechanisms in place in a parents’ experience of receiving the diagnosis of CF and its implications?
Researching different parents’ subjective experience of the diagnosis should be carried out using qualitative interviewing techniques. Some examples of questions that could be asked are:
- How and when where you first given the diagnosis?
- What was your initial response to the diagnosis?
- Who was there to support you?
- Family, friends, doctors, specialist nurses, etc….
- Where you referred to any support services?
- If so, which ones? Did you attend? Were they useful? discuss…
- If not, do you think it would have been helpful?
- Do you feel you understand the diagnosis and risks for future pregnancies?
- How would you advise health care professionals do approach this diagnosis in future?
- Was it done well? How?
- Should it be done differently? How?
