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A Billirubin Shared Story

A mother with a rare illness discusses how she integrates therapy with her kids.

Beatrice describes what Crigler-Najjar Syndrome is and how vital 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). However, she had health issues from birth. After a few days of life, she displays changed liver values. But only after a long period will she be able to give a name to this peculiar condition, a rare disease still without cure today, Crigler-Najjar Syndrome.

The only therapy accessible to date is phototherapy supplemented by pharmaceutical assistance or liver transplant. Phototherapy allows the changed values to be recovered for patients to continue a pretty normal life. We met Beatrice, thanks to the spring Io per Leidi Telethon campaign dedicated in particular to “rare mothers”, to discover more about her amazing story of so much courage, huge trials and gigantic results.

Crigler-Najjar Syndrome: What is it?

It requires a bilirubin blood test because it is an uncommon disorder of bilirubin metabolism. It is a waste product of the red blood cell that results from a mutant enzyme called UGT being deficient or not functioning properly. It is responsible for “preparing” bilirubin for physiological removal by attaching bilirubin molecules to its molecule. Sugars. Therefore, in this way, an accumulation of bilirubin arises, which, being a waste material, is harmful and must be cleared from the body in some way since it could lead to death from cerebral coma.

There are two kinds of this hereditary illness. The enzyme is completely lacking in type 1, the most severe variant (the one I suffer from). It is characterized by high levels of unconjugated bilirubin, providing early and acute jaundice in the neonatal phase. In type 2, however, the enzyme deficit is just partial. Consequently, serum bilirubin Blood Test levels are decreased, and residual enzymatic activity remains. In this instance, phototherapy can be performed for less hours.

How do you keep it under control?

People with Crigler-Najjar Syndrome are compelled to sleep under big phototherapy lamps for eight or ten hours per night while naked. It has been discovered that this particular wavelength of blue light serves the same purpose as the UGT enzyme I previously described. Thanks to this therapy and the steadfast support of my father, I was able to live “almost normally”, study, live the ordinary experiences of youth, and establish myself in the world of work; I am a researcher in the field of biotechnology and construct a family, I have three children. Doing phototherapy, however, was not always so easy. The lamps that were available when I was younger were heavy and had little positive impact.

I had to make a lot of compromises. My father, Velio, altered my life and other individuals with Crigler-Najjar Syndrome by making seven phototherapy lights that were increasingly smaller and more functional, within reach of travels and excursions. But once lighting were heavy and delicate, my father invented a portable lamp that fit onto a trolley. It’s another life! When you sleep away from home, having this specific trolley and finding a tiny, warm room is vital because phototherapy must be administered without clothes.