Bardet Biedl Syndrome is an extremely rare genetic disorder that is usually inherited. It is usually diagnosed during childhood, and has a negative effect on the life expectancy on the sufferer. Currently, there is no cure for the disease and it has an unfavourable prognosis. At present, medical interventions concentrate solely on treating the specific symptoms and side effects of each individual suffering with the condition, such as help with vision problems, dietary advice or through kidney transplants.
The earlier Bardet Biedl Syndrome is diagnosed and treatment is commenced, the more normal a life the individual child can lead. Most people diagnosed with the condition suffers from kidney abnormalities. These abnormalities can cause problems that range from mild functional issues, through to life threatening kidney failure. Regular testing of an individual’s kidney function, and early intervention to resolve any problems can have a positive effect of the life expectancy of the individual.
Approximately 72-92% of sufferers of Bardet Biedl Syndrome suffer from clinical obesity. The syndrome results in what is called truncal obesity. That is, fat accumulates around the trunk and abdomen. Many patients who suffer this will go on to develop type 2 diabetes as a result of the obesity. Type 2 diabetes is known to have a negative effect on life expectancy, with it sometimes being as much as 10 years lower than the general population. Obesity in general has a known unfavourable effect on life expectancy, with obese individuals generally living shorter lives than the general population.
Sufferers of Bardet Biedl Syndrome currently have a considerably lower life expectancy compared to the general population. The main cause of death for sufferers of Bardet Biedl Syndrome is renal failure. Chronic kidney disease is the major cause of morbidity and mortality amongst sufferers. The kidneys are concerned with filtering waste products out of the blood. Most people that suffer from Bardet Biedl Syndrome suffer from structural abnormalities of the kidneys. These usually include malformations such as polycystic kidneys, abnormally small kidneys, or irregularly shaped kidneys. This reduces their efficiency, meaning the kidneys are not able to filter the blood as well as a normal kidney. This results in too much waste products left in the bloodstream, which has a negative effect of the health of the sufferer. The management of renal issues can help to improve the quality of life and life expectancy of sufferers. Once the kidneys are damaged, they cannot be repaired. Medication and lifestyle changes, as well as medical interventions can slow down the rate of kidney failure. However, once the kidneys reach a certain point where they are no longer able to sustain an individual, the only option is daily dialysis, or a full transplant.
With advances in medical breakthroughs, the treatment of the conditions associated with Bardet Biedl Syndrome is improving. Whilst many sufferers will experience a shorter life due to the associated conditions, medical advancements mean a normal life expectancy is becoming more of a possibility. With multidisciplinary input from dieticians through to urologists, cardiologists and opthalmologists, it is becoming likely that with the aid of kidney transplants, dietary advice and regular medical check-ups, sufferers may hopefully soon be able to live as long a life as the general population.