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A Billirubin Shared Story

A mother suffering from a rare disease talks about how she combines children and therapies

Beatrice explains what Crigler-Najjar Syndrome is and how important experimental therapies and research are.

So, born in Manchester, Beatrice is 39 years old and is the mother of three children, Leonardo (10 years old), Samuel (8 years old) and Giosuè (one month old). But she began having health problems from birth. After a few days of life, she presents altered liver values. But only after a long time will she be able to give a name to this strange disease, a rare disease still without cure today, Crigler-Najjar Syndrome.

The only therapy available to date is phototherapy accompanied by pharmacological support or liver transplant. Phototherapy allows the altered values to be restored and patients to lead a fairly normal life. We reached Beatrice, thanks to the spring Io per Leidi Telethon campaign dedicated in particular to “rare mothers”, to learn more about her beautiful story of so much courage, great challenges and gigantic results.

What is Crigler-Najjar Syndrome?

It is a rare disease of bilirubin metabolism and needs a Bilirubin Blood Test. It is a waste product of the red blood cell caused by deficiency or defective functioning of a mutated enzyme called UGT. It is responsible for “preparing” bilirubin for physiological elimination by binding bilirubin molecules to its molecule. Sugars. Therefore, in this way, an accumulation of bilirubin occurs, which, being a waste material, is toxic and must be eliminated from the body in some way because it could lead to death from cerebral coma.

There are two forms of this genetic disease. The enzyme is completely absent in type 1, the most severe form (the one I suffer from). It is characterized by high levels of unconjugated bilirubin, giving early and intense jaundice in the neonatal phase. In type 2, however, the enzymatic deficiency is only partial. Consequently, serum bilirubin Blood Test levels are lower, and residual enzymatic activity remains. In this case, phototherapy can be performed for fewer hours.

How do you keep it under control?

Those affected by Crigler-Najjar Syndrome are forced to sleep 8/10 hours every night naked under large phototherapy lamps. This is a blue light with a specific wavelength that has been found to have the same function as the UGT enzyme I mentioned earlier. Thanks to this therapy and the unwavering support of my father, I was able to live “almost normally”, study, live the typical experiences of youth, and establish myself in the world of work; I am a researcher in the field of biotechnology and build a family, I have three children. Doing phototherapy, however, was not always so easy. When I was little, the lamps available were bulky, and the beneficial effect was limited.

I had to make a lot of sacrifices. My father, Velio, changed my life and other individuals with Crigler-Najjar Syndrome by building seven phototherapy lamps that were increasingly smaller and more functional, within reach of trips and excursions. But once lamps were bulky and fragile, my father produced a portable lamp that fit into a trolley. It’s another life! When you sleep away from home, having this special trolley and finding a small, heated room is necessary because phototherapy must be performed without clothes.