MEXICO CITY—Jennifer MacDonald is the first person to force the government health network in Mexico to pay for her weekly infusions to treat alpha-1 antitrypsin deficiency (AATD).
It’s a distinction she’d rather not have.
Jennifer, 48, and her 47-year-old husband, Tamaha—a rugby player from New Zealand—live in the Yucatán capital of Mérida, along Mexico’s tropical Caribbean coast. The couple met in Australia in 2009 and married 6 months later. A multilingual management consultant with a master’s degree in marketing from Italy’s Istituto di Bergamo, Jennifer was traveling extensively on behalf of multinational clients until her AATD diagnosis nearly 10 years ago.
“I was living in New Zealand with my husband, and one day, we were walking to a bookstore and I just collapsed,” she told Rare Disease Advisor. “I had a pain in my chest, and in my arm. He thought it was maybe a heart attack and drove me as fast as he could to the hospital. When we arrived, they said, ‘no, you don’t have a problem. You look fine.’”
Things seemingly returned to normal, but after 2013, by which time the couple had relocated to Mexico City, Jennifer’s health started going downhill fast.
“Maybe it was because of the altitude, the pollution, or the weather,” she said. “But one day, I felt really sick. I was coughing and it was really hard to breathe.”
The hospital where Tamaha took his wife asked her to take a spirometry test. The effort required to blow into the tube proved too much for Jennifer, and on October 8, 2013, she had a stroke. Surgeons immediately removed a piece of the woman’s skull and a few months later replaced it with a titanium mesh plate secured by 86 screws.
“My lungs were short of breathing capacity. They forced me to do an exam that wasn’t supposed to be done at that time,” she said, adding that the stroke incapacitated her for nearly 2 years. Meanwhile, Tamaha and his friends on New Zealand’s national rugby team, the All Blacks, tried but failed to raise enough money to fund a double lung transplant for Jennifer.
Adding to the couple’s frustration, the government-run Mexican Social Security Institute (known by its Spanish initials IMSS) determined she indeed had AATD, but rejected her appeal to pay for Zemaira®, the human proteinase inhibitor she needs to keep her alive in the absence of a lung transplant.
“I need 3 vials a week for the rest of my life,” she said of the drug, which is manufactured by CSL Behring. “I had to sue IMSS. Otherwise, this would have cost me $1200 a week.”
Since 2018, Jennifer has been receiving weekly augmentation treatments via a port in her chest. Known as “patient 01,” she is believed to be the only Mexican citizen to this day who gets such treatments for AATD at taxpayer expense.
That may not be surprising, given the scant attention paid to rare diseases in Mexico, a country with 129 million inhabitants.
“I can count the number of Mexicans with alpha-1 on the fingers of my hand,” she said. “There is no census available in Mexico for rare diseases. Some organizations exist, but unfortunately, we as a society have zero visibility of what’s happening. There’s such a lack of communication and awareness.”
That’s why, as early as 2017, the MacDonalds began dedicating themselves to holding multiple conferences throughout Mexico, attending international events as invited speakers, and using social networks as a springboard to amplify the voices of Mexican people living with rare diseases.
Jennifer’s most recent appearance was on April 15, 2023, at the Alpha-1 Global 5th Research Conference and 8th Patient Congress in Dublin, Ireland. A month earlier, she spoke about AATD during the 1st Latin American and Caribbean Rare Disease Congress in Bogotá, Colombia.
“I used to swim. I was a diver. I used to live a normal life,” Jennifer said, her voice breaking. “But now I can’t do something as simple as taking a shower. My life has changed so severely from day to day that my husband and my mother do pretty much everything for me.”
She added: “If alpha-1 had been discovered in my life before, I would definitely not be the way I am right now.”
But despite the hardship, and the fact that she’s tethered to oxygen day and night, she soldiers on.
“It doesn’t matter how dark sometimes life might look, there is always light,“ she said. “In my case, a beautiful husband that has been with me 24/7, and my 73-year-old mom who still looks after me like when I was a child.“
Asked if she has advice for any other “alphas” out there, Jennifer said simply: “Listen to your doctors, follow their every instruction, eat properly, keep your mind busy, and surround yourself with positive people.”