BBS: Is the child hungry and insatiable? This is what you need to check

Haredim 10
June 16, 2025   
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BBS - Bardett Biddle Syndrome - is an ultra-rare genetic disease that causes multi-system damage that includes retinal degeneration that in adulthood leads to blindness, kidney damage, obesity, extra fingers on the palms of the hands, lack of coordination of the limbs, diabetes, and other injuries.

This is a very rare disease, and for this reason many parents do not know how to correctly interpret the symptoms their children suffer from.

So what should you pay attention to?

"One of the first symptoms worth paying attention to is babies born with 6 fingers," explains Prof. Eli Hershkowitz, a senior pediatric endocrinologist and director of the pediatric division at Soroka Medical Center. "Sometimes this is also expressed in short stature, and the bottom line is that they then develop additional problems such as obesity, which may lead to diabetes, fatty liver, and more."

The rare disease is made up of varying symptoms and so are the therapists, so not all doctors know how to connect all the dots and give it a name. However, there are certain symptoms that are worth paying attention to from a young age.

Already during pregnancy, it is possible to identify an abnormal kidney structure and an abnormal facial structure among patients. After birth, the same abnormalities in the organs continue to be seen. Around the age of two, the same hyperphagia that we mentioned is observed, and around the age of 10, retinal atrophy and night blindness begin, while around the age of 20-30, it is possible to lose the ability to see.

One of the most common and severe symptoms among BBS patients is severe obesity caused by hyperphagia, i.e., increased hunger. Those who suffer from hyperphagia are extremely hungry all the time and cannot be satisfied. From the age of two to five, patients deal with constant preoccupation with food, stealing food, eating at night, tantrums if they are deprived of food, and compulsive thinking about food.

"In addition to obesity, other symptoms of the disease include problems such as developmental delay, vision problems, kidney and respiratory problems, and limb coordination problems," adds Prof. Hershkowitz. This obesity can cause many other problems such as cardiovascular diseases, arrhythmias, metabolic diseases, hypertension, respiratory diseases, fatty liver, orthopedic diseases, and skin diseases.

According to him, in addition to the great difficulty for the patient himself, the disease also affects his immediate environment. "When you have a sick child, it affects your entire life," he explains. "This coping also sweeps away the patient's first circle. When the child grows up and symptoms such as obesity begin, for example, it can also lead to social rejection and, beyond harming the quality of life, also harming the child's social life."

Studies show that childhood obesity is associated with a 3-fold increase in the risk of mortality. We know that obesity affects life expectancy, but we don't know how. Studies show that if obesity began before the age of 4, the expected life expectancy is 39 years. If there is drug intervention in the early stages, life expectancy will increase.

In the past, attempts were made to treat obesity problems using treatments that were tailored to nutritional problems and not tailored to the hypertrophy resulting from BBS, and as a result, the treatment did not produce the desired results and sometimes even harmed the patient. Targeted treatment tailored to the disease was still a distant dream.

But recently, efforts have been made to enable the first and only treatment that is designed for a genetic disease on the background of BBS syndrome in adults and children. The treatment is a feeling of satiety that without treatment, patients cannot achieve. Prof. Hershkowitz describes the benefits of the treatment and explains that it offers new hope for BBS patients. The treatment acts on the hunger and satiety mechanism in the body, and helps patients feel full - a feeling that was foreign to them until now. This is a significant breakthrough in the treatment of this disease.

The treatment is given as a single injection a day and is FDA and EMA approved and registered in Israel. "This is a treatment that is tailored directly for patients and has the potential to dramatically improve their lives and the lives of those around them," he concludes.

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