Bilirubin Blood Test (Ascot 1 Home Kit)

A shared story for Blood Lovers

A mother who is afflicted with a rare disease discusses the manner in which she integrates therapies and her children. She uses CBC and HPV kits for home exams.

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

She experienced many health issues from the moment she was born until today. And, 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 CBC results as a result of the spring Io per Leidi Telethon campaign, which was specifically dedicated to “rare mothers.”

What is the Crigler-Najjar Syndrome?

What we know about it that UGT, which is a mutated HPV enzyme, is responsible for the preparation of this substance that acts with a physiological elimination. And 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.

However, the main issue is how can anyone get 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.

Help by Counselling and Assistance

Therefore, 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 an HPV biotechnology researcher and have established a family with three children. Nevertheless, the process of administering it 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 CBC related 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.