Bardet Biedl Syndrome: Treatment, Cost and Side Effects

Bardet-Biedl Syndrome (BBS) is a type of congenital (present since birth) disorder, a digestive disease, a genetic disease and an endocrine disease. In other words, it is inherited (autosomal recessive) by genetically and is known to affect several parts of the body. The people that are affected by this disease suffer from vision impairment. They may also have polydactyly (extra toes and fingers), may suffer from obesity at an early age and have hypogonadism (a condition where the functions of the male gonads are decreased). Kidney failures and slow processing and understanding (cognitive disability) are also associated with BBS. Symptoms like diabetes, high blood pressure, Hirschsprung disease (bowel disease), dental abnormalities and speech problems are also associated with the syndrome. The treatment of the syndrome depends on the symptoms of the syndrome present in a person. Before the treatment of the syndrome begins, a diagnosis of the same is utterly important as it is difficult to detect a congenital disease in a person. So the doctor’s are usually checking and going through the medical history of the patients, diagnosing the symptoms and conducting physical exams so as to be sure of the treatment that is to be prescribed to the patient to undergo. Genetic testing may also be conducted from specialized agencies through which one can determine the presence of BBS in a person. But even after the diagnosis of the disease, a particular and specified treatment for the syndrome does not exist. Therefore, each symptom is treated specifically and in accordance with the severity of it in a person.

Bardet-Biedl Syndrome can cause problems like obesity, imparied vision, extra toes and fingers, delayed devleopment in motor skills. Thus the treatment varies in accordance to the problem. First the patient undergoes an gene testing to confirm the mutation and the disease. Obesity in people with Bardet-Biedl Syndrome starts at a young age and needs to be taken care of. It can be controlled with the intake of monitored diet with less fats and carbohydrates and also regular exercising of the body. Special treatments can be prescribed by the doctor for the impairment for vision (retinitis) . Puberty is the most stressful period for people affected with the syndrome as the syndrome results in genitalia disorders and infertility for people. Regular monitoring of the hormonal levels is done and proper steps are taken to curb the situation so as to reduce the discomfort caused to the patient due to hormonal imbalance and to see if hormone replacement therapy would be required. Special education, training and speech therapy is recommended to those with intellectual disability and speech problems. In cases with kidney diseases, a transplant may be suggested. Obesity after a kidney transplant is often the case and therefore proper precautions are taken to control the weight gain. Apart from the above there are supportive treatment like therapy for supporting normal activities for social and cogntive behaviour etc.

Bardet-Biedl Syndrome is a ciliopathic disorder, the presence of which is determined after numerous tests and physical exams. Any person with symptoms such as that of early obesity, kidney failure, retinitis, hypogonadism, etc is eligible for the treatment of the syndrome. As mentioned before, there is no specified treatment for the syndrome. The symptoms can be treated individually by the doctor and the hormonal levels are regularly monitored. Transplant of the kidney may also be the case for some. In addition to this, surgery of extra fingers or toes, and the genitalia may also be done as a part of the treatment of the syndrome.

Bardet-Biedl syndrome may cause many symptoms to appear in a person and its presence is confirmed through genetic testing. The symptoms, however, can arise in a person’s body irrespective of the fact that they are sufferers of the syndrome or not. Depending on the severity of the appearance of symptoms, they may be treated and taken care of but that is completely independent of how the treatment will be prescribed if the patient did have BBS.Patients who are not having any symptoms related to the diseases or the conditions needed for the treatment are therefore not eligible for the disease. But the best advice can be given by the specialist doctor and therefore it is advised that the patient consults the doctor before the treatment.

Since the treatment of the syndrome involves monitoring and taking care of each symptom separately, there can only be side effects used to cure or reduce the symptoms. To improve the condition of vision impairment, the drug known as Metformin is often used. It is taken and ingested for a long term. It is also used to control type-2 diabetes. But the side effects of the drug are well known. These side effects include bloating, nausea, gas, constipation, stomach pain, weight loss and heartburn. The most serious side effect of the drug that is also printed on the box of the medicine is Lactic Acidosis. It occurs when there is a buildup of the drug in the body and is warned about by Food and Drug Administration (FDA). Hence, the drug should be taken with utmost care and the person should contact the doctor and seek medical help as soon as one starts feeling any kind of discomfort after ingesting the drug.

If there is a kidney transplant needed to be done for a person suffering from the syndrome, then it is quite possible that the problem of obesity will occur for the person after the transplant is done. Obesity, as it is known, can cause further complications like diabetes, high blood pressure, etc and therefore should be looked after and prevented as much as one can.

The Bardet-Biedl Syndrome is a genetic disorder. This implies that it is passed on to children by parents who are either carrier of the syndrome or are themselves affected by it. The syndrome cannot be cured and therefore has to be treated for a lifetime. The symptoms can only be reduced. Transplants and surgery can be done where ever they are needed. But even then, medical care is to be provided and recommended to the patient for his/her life. The treatment never ends for a person affected by the syndrome.

As mentioned before, the syndrome cannot be cured, only its symptoms can be reduced. Obesity, visual impairment and cognitive disability are symptoms that show themselves at a young age. Polydactyly is one symptom, which, if occurs in a child at birth, then the child is tested for BBS. And from that moment onward, care can be taken to look after obesity through proper diet and exercise. Visual impairment can be improved and training or special education is provided to kids with cognitive disability. Infertility and disfunctioning of the genitalia are taken care of during the period of puberty, with great control and monitoring.

When each symptom is treated with separately, the treatment of BBS would not burn holes in a person’s pocket. Obesity can be cured with lifestyle changes. Visual impairment and cognitive disability need medical attention, which would not cost much. Since it is a life-long treatment, it is difficult to put a price on it and would probably amount to a big number. The surgery and the transplants, however, would be costly as there is an investment of a lot of money that is to spend in one go. Constant medical attention and doctor’s consultation also adds a lot to the price of the treatment.

No, the results of the treatment are not permanent. The patients are never cured, only the symptoms and their discomfort are reduced to an acceptable level. In the case transplants and surgery that might lead to removal of specific part, the result of the treatment could be said to be permanent.

Unfortunately, there are no alternatives for the treatment of Bardet-Biedl Syndrome. The symptoms could become extreme and affect the life expectancy of the sufferer. Children may become blind by the age of 15-16. Infertility is prevalent in the sufferers of the syndrome and may cause other genital malfunctions as well. The most common cause for the death of the person suffering from BBS is kidney failure. Bardet-Biedl Syndrome is undoubtedly one of the most deadly and dangerous disorder and can cause serious troubles for the patients. Early diagnosis once a symptom appears and proper medical attention is all that can be done for a healthy life.