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Billirubin Shared Story

A mother struggling with a rare disease discusses her approach to integrating therapies and children.

Crigler-Najjar Syndrome is defined by Beatrice, who emphasizes the significance of experimental therapies and research.

Thus, Beatrice, who was born in Manchester, is 39 years old and the mother of three children: Leonardo (10 years old), Samuel (8 years old), and Giosuè (one month old). However, her health issues manifested from the moment she was born. After a few days of life, she exhibits altered liver values. However, it will be a considerable amount of time before she is able to assign a name to this odd disease, which is a rare condition that remains incurable to this day: Crigler-Najjar Syndrome.

To date, the sole treatment available is phototherapy, which is often combined with pharmacological support or a liver transplant. The altered values can be restored through phototherapy, which enables patients to lead a relatively normal existence. We were able to connect with Beatrice through the spring Io per Leidi Telethon campaign, which was specifically designed to support “rare mothers.” We were able to gain a deeper understanding of her inspiring story, which is characterized by immense courage, significant obstacles, and accomplishments.

Do you know what Crigler-Najjar Syndrome is?

This is an uncommon condition that necessitates a test and is associated with metabolism. The red blood cell produces this waste product as a result of the deficiency or malfunction of a mutated enzyme known as UGT. By attaching molecules to its molecule, it is responsible for “preparing” for physiological elimination. Consequently, this results in the accumulation of bilirubin, a toxic waste material that must be eliminated from the body in order to prevent the threat of cerebral coma-induced mortality.

Two varieties of this genetic disorder exist. In the most severe form, type 1, the enzyme is entirely absent (a condition from which I am currently suffering). The neonatal phase is marked by the presence of elevated levels of unconjugated ones, which results in early and severe jaundice. In type 2, the enzymatic deficiency is, however, only partial. This results in a decrease in serum amount and the presence of residual enzymatic activity. If this is the case, the duration of phototherapy can be reduced.

How do you guarantee that it remains under control?

Many individuals with this syndrome are compelled to sleep nude under large phototherapy lamps for 8-10 hours each night. This blue light has been identified as having the same function as the UGT enzyme that I previously mentioned, possessing a specific wavelength. I was able to establish myself in the workforce, study, and live the typical experiences of adolescence, all thanks to this therapy and the unwavering support of my father. I am a biotechnology researcher and have three children. However, this was not always an effortless process. While I was a child, the lamps that were available were cumbersome and had a limited beneficial effect.

I had to make numerous sacrifices. By constructing seven lamps that were progressively smaller and more functional, my father, Velio, transformed the lives of myself and other individuals with his condition, making them accessible for excursions and travel. But my father developed a portable lamp that could be conveniently stored in a trolley, as they were previously cumbersome and frail. It is a different existence! In order to conduct it without clothing, it is essential to have this specialized trolley and locate a tiny, heated room when sleeping away from home.