A recipe for a good life

Maria Isabel, a chef from Mexico, has lived with common variable immunodeficiency (CVID), a primary immunodeficiency disease (PID), for her entire life. Now, to help break the stigma of PIDs in Mexico and around the world, she wants other patients to know that it is possible to live a full life with proper treatment.

PIDs are associated with increased morbidity and mortality and are a significant public health burden. Diagnosis of these conditions is often delayed, or patients are misdiagnosed, as there is poor awareness of PID in low- and middle-income countries.

Health coverage in Mexico

With a population of almost 130 million, a rich cultural history and abundant natural resources, Mexico is the second-largest economy in Latin America and among the 15 largest economies in the world.

In recent years, the Mexican healthcare system has undergone major changes with the goal of offering universal, equitable, comprehensive, sustainable and effective services.

Efforts are being made to expand healthcare coverage and improve access to quality care, particularly through social security programmes such as IMSS-Bienestar.

The Mexican government has implemented policies to enhance healthcare infrastructure, promote health education, invest in medical research and provide state-of-the-art treatment options.

Special emphasis is being placed on increasing the number of qualified medical professionals to improve the timely diagnosis and treatment of complex medical conditions, such as PIDs.

A difficult diagnosis

Maria Isabel had gastrointestinal infectious symptoms that persisted for eight days when she was just four months old. She then remained asymptomatic until she was three years old, after which she experienced frequent upper respiratory infections. “At the age of 11, I started with pneumonia, fever, weight loss, no appetite, anaemia,” explains Maria Isabel.

It took another two years, after many investigations by a team of doctors working with her immunologist, Dr Enriqueta Núñez, before Maria Isabel was diagnosed with CVID.

PIDs are a group of more than 400 rare, chronic disorders in which part of the immune system is missing or functions improperly. Some patients are more prone to recurrent infections while others have a deregulated inflammatory process which makes them prone to auto-inflammation and auto-immune diseases.

First described in 1953, CVID is rare, despite being the most common primary immunodeficiency in humans.¹

It is characterised by primary hypogammaglobulinemia, a disorder related to low serum immunoglobulin or antibody levels resulting in frequent infection.

"At the age of 11, I started with pneumonia, fever, weight loss, no appetite, anemia."

Dreaming of becoming a chef

“It was not easy growing up with the disease, here in my hometown,” recalls Maria Isabel, who lives in Sahuayo in the province of Michoacán. “People pointed at me and made cruel comments.”

However, her family never let her down, encouraging her to ignore the comments and giving her the courage to feel confident in herself.

Dr Núñez explained that she could lead a normal life with proper treatment which, for PIDs, is lifelong intravenous or subcutaneous immunoglobulin infusions to replace the missing or defective antibodies.

To receive her treatment, Maria Isabel had to miss classes, causing her to fall behind in her education. Her teachers did not always understand or support her and, unfortunately, she had to drop out of school.

When a gastronomy school opened in her hometown, Maria Isabel knew she wanted to enrol, and her family encouraged her to do so. She had spent much of her childhood in the kitchen, watching and learning as her mother and grandmother cooked. “The kitchen has traditionally been a woman’s space in Mexico,” adds the talented chef with a smile. Today she holds a degree in Gastronomic Arts.

Starting with subcutaneous immunoglobulin treatment

It was not until 2015, when she was 24 years old, that Maria Isabel started using Octapharma’s subcutaneous immunoglobulin. “Dr Núñez told me wonderful things about it,” she recalls.

Before switching from intravenous immunoglobulin, she remembers feeling limp and weak at the end of each month as the effects of her treatment wore off. “Now the administration of my medication is one dose every week, and I always feel strong and have enough energy,” she explains.

“Now the administration of my medication is one dose every week, and I always feel strong and have enough energy.”

A taste for living

“Every recipe has its own story, a memory of some place, bringing nostalgia and affection for those who taste it,” says Maria Isabel as she ties tamales, a traditional Mexican dish, ready to be steamed.

“These are Isabel Sosa tamales,” she explains. “In Mexico we learn from the mother, from the grandmother, with women passing on knowledge. The recipes of my ancestors from Sahuayo are what interest me the most, but I love to personalise my own style.”

Inspired by ancient Mexican food and by famous Mexican Chef Margarita Carrillo Arronte, Maria Isabel opened her own Mexican food business with her husband Paco, and it has been a great success. She’s also participated in gastronomic contests, winning a first place in 2022 and representing Michoacán in a 2024 contest.

Despite her disease, her lifelong journey with CVID and the continued support of her husband and family have given her the strength to lead a normal life. “I know this would not have been possible without subcutaneous immunoglobulin treatment,” she admits, humbly. “I now have the freedom and time to schedule my own activities, to live my life, without neglecting my health. That makes me proud, and I want other patients to know that the same life can be possible for them.”

Referências:

1. Global Distribution of Common Variable Immunodeficiency (CVID) in the Light of the UNDP Human Development Index (HDI): A Preliminary Perspective of a Rare Disease – PMC (nih.gov)

2. https://www.frontiersin.org/articles/10.3389/fimmu.2019.03148/full Accessed 2 February 2024.

3. Papanastasiou G, et al. Large-scale deep learning analysis to identify adult patients at risk for combined and common variable immunodeficiencies. Commun Med (Lond). 2023 Dec 20;3(1):189.