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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.

Beatrice, who was born in Manchester, is 39 years old and the mother of three children: 10-year-old Leonardo, 8-year-old Samuel, and 1-month-old Giosuè. However, she had health issues from birth. And after a few days of life, she displays changed liver values. But only after a long period will she be able to name this odd disease.

A rare disease remaining without cure today is Crigler-Najjar Syndrome.

The only therapy accessible following a positive Test is phototherapy coupled with pharmaceutical assistance or liver transplant. Phototherapy allows the changed values to be recovered for patients to continue a pretty normal life. Thanks to the spring Io per Leidi Telethon campaign dedicated in especially to “rare mothers,” we found Beatrice to learn more about her lovely story of fortitude, huge hurdles, and gigantic results.

Crigler-Najjar Syndrome: What is it?

It is an uncommon disorder of bilirubin metabolism. However, it is a waste product of the red blood cell brought on by a mutant enzyme called UGT that is either deficient or malfunctioning. It is responsible for “preparing” bilirubin for physiological removal by attaching bilirubin molecules to its molecule. Sugars. Therefore, in this way, an accumulation forms, which, being a waste item, is hazardous 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 levels are reduced, and residual enzymatic activity remains. In this instance, phototherapy can be performed for less hours.

However, how do you manage it?

Those affected frequently undergo regular Bilirubin checks. Those who suffer from Crigler-Najjar Syndrome are compelled to sleep beneath huge phototherapy lamps for eight or ten hours per night while naked. Also, there is a blue light with a certain wavelength that has been found to have the same function as the UGT enzyme I stated previously.

Therapy and Support

Thanks to this therapy and my father’s continuous support, I could live “almost normally,” study, enjoy the regular youth experiences, and establish myself in the world of work. I am a researcher in the field of biotechnology and have formed 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.

Therefore, I had to make a lot of compromises.

By creating seven phototherapy lamps that were progressively more compact and useful, within the reach of travels and excursions, my father, Velio, transformed both my life and the lives of others with Crigler-Najjar Syndrome. Once lamps were heavy and delicate, my father invented a portable lamp that fit onto a trolley. However, 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.