Bilirubin Blood Test (Home Kit) – £49

A shared story of Billirubin

A mother who is afflicted with a rare disease discusses the manner in which she integrates therapies and her children.

Beatrice provides an explanation of Crigler-Najjar Syndrome and the significance of experimental therapies and research.

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, she experienced health issues from the moment she was born. Additionally, she exhibits altered liver values within a few days of birth. However, she will not be able to identify this peculiar illness until a considerable amount of time has passed.

Crigler-Najjar Syndrome is an uncommon disease that remains incurable to this day.

Phototherapy, in conjunction with pharmacological support or liver transplantation, is the sole treatment available following a positive test. Phototherapy enables patients to resume a relatively typical lifestyle by restoring the altered values. We were able to learn more about Beatrice’s beautiful story of courage, great challenges, and colossal results as a result of the spring Io per Leidi Telethon campaign, which was specifically dedicated to “rare mothers.”

What is Crigler-Najjar Syndrome?

It is an uncommon condition that affects the metabolism of bilirubin, a byproduct of red blood cells. UGT, a mutated enzyme, is responsible for the preparation of this substance for physiological elimination by binding its molecules to carbohydrates. The condition is the result of a deficiency or defective functioning of this enzyme. Consequently, accumulation occurs, which, due to its toxic nature, must be eliminated from the body to avert severe repercussions, such as cerebral coma-induced mortality.

This genetic disorder manifests in two distinct varieties.

The enzyme is entirely absent in type 1, the most severe form (the one from which I suffer). It is distinguished by the presence of elevated levels of unconjugated bilirubin, which results in severe and early jaundice during the neonatal period. Nevertheless, the enzymatic deficiency in type 2 is only partial. As a result, serum levels are reduced, and residual enzymatic activity persists. In this scenario, phototherapy may be administered for a shorter duration.

However, how can you maintain control over it?

Individuals who are affected typically undergo routine examinations. Many individuals who are also afflicted by Crigler-Najjar Syndrome are compelled to sleep nude under large phototherapy lamps for 8-10 hours each night. Additionally, this is a blue light with a specific wavelength that has been identified as having the same function as the UGT enzyme I previously mentioned.

Counseling and Assistance

I was able to establish myself in the workforce, study, and experience the typical adolescent experiences thanks to this therapy and my father’s unwavering support. I was able to live “almost normally.” I am a biotechnology researcher and have established a family with three children. Nevertheless, the process of administering phototherapy was not always straightforward. The lamps that were available during my childhood were cumbersome and had a limited beneficial effect.

Consequently, I was compelled to make numerous sacrifices.

Velio, my father, transformed the lives of myself and others with Crigler-Najjar Syndrome by constructing seven phototherapy lamps that were progressively more compact and functional, thereby making them accessible for excursions and travel. Previously, lamps were cumbersome and fragile. However, my father developed a portable lamp that could be stored in a trolley. Nevertheless, it is a different existence. It is essential to have this specialized trolley and locate a small, heated chamber when sleeping away from home, as phototherapy must be conducted without clothing.