A mother's journey across the globe to find answers for her 'Duchenne Family' - Doctors of the World

A mother’s journey across the globe to find answers for her ‘Duchenne Family’

Interviewed by Nayla Bejarano, MPH: 09/19/2024

 

In the face of impossible choices, a mother defied all odds for the love of her children. This is the story of Maria, a courageous mother from Venezuela, whose unwavering determination led her on a journey through jungles and across borders, in pursuit of hope for her children— whose lives are being stolen by Duchenne Muscular Dystrophy (DMD), a disease that knows no mercy.

Maria is the mother of three children diagnosed with DMD: 13-year-old Santi, 11-year-old Ale, and 2-year-old Jimmy, who is a twin to his sister, Martina. She also has two nephews who suffer from the same condition, which is why they refer to themselves as the “Duchenne family”.

DMD is a rare genetic disorder that progressively weakens the muscles, causing those affected to lose their ability to walk, breathe, and ultimately live.  The prognosis is grim: most children with Duchenne do not live past their teenage years and there is no cure.

Her quest for answers began years ago in Venezuela, where inadequate healthcare options forced her to seek help from “brujos” (witch doctors) in a desperate attempt to find solutions for her children. Each passing day only brought more suffering, and her sons’ health deteriorated.

 

The Breakthrough in Argentina

 

Maria’s journey took a pivotal turn in Argentina, where she finally received a diagnosis that would change her family’s trajectory. While pregnant with the twins, she learned she was a carrier of Duchenne. Doctors advised her to terminate the pregnancy, but Maria would not. “I already felt their feet and hands. I couldn’t do it. I knew I was going to lose them, but I wanted to meet them, to love them.”

Jimmy was the reason for Maria’s unimaginable journey. Earlier this year, her doctor informed her about a new FDA-approved drug showing promise for DMD patients. Despite  efforts to have the treatment sent to Latin America for her older children, there was no way to get it approved. Maria and her husband realized they had no choice—they had to leave.

They sold everything they owned in Venezuela. Although a foundation offered them a chance to fly to the U.S., it would not be for another year. Duchenne doesn’t wait. So, they didn’t either.

 

A Journey of Resilience

 

Leaving behind their older sons due to their physical limitations, Maria, her husband, and their 2-year-old twins, Jimmy and Martina, embarked on a dangerous two-month journey. They traversed Bolivia, Peru, Ecuador, and Colombia on foot and by boat. Through the dense Darien Gap in Panama’s unforgiving jungle, they pressed forward—step by painful step—sustained by the hope that a cure awaited them on the other side.

Along the way, they faced unimaginable hardships: robbed of their money and belongings, they survived on river water. In Mexico, they were forced to pay cartels for safe passage. Yet, no matter how dire the circumstances, Maria’s resolve never wavered. “Every step I took carried the names of each one of my children,” she said. “I had to get there for them.”

 

 

A Safe Haven: Arriving in Vista Nueva and finding the MRTC

 

 

Finally, the family arrived in the U.S., without a dollar to their name but filled with determination. Maria remembers the moment she crossed the border and saw people in blue vests offering shelter, a sight that filled her with relief.

She and Jimmy visited the Migrant and Refugee Transitional Care (MRTC) clinic at Vista Nueva for a check-up, where they met Dr. Manuel de La Rosa and the collaborative team of medical students and volunteers. Engaging in conversation, Dr. De La Rosa listened with kindness and offered advice on her next steps.

Although Maria knows Duchenne inside and out, she faces an unknown medical system in the US. Dr. de la Rosa and MRTC’s team made extensive efforts to answer the questions that could be addressed at that moment and shared valuable resources. The team is currently in search of more resources to help M and Jimmy travel to Dallas or UCLA for clinical trials since the Duchenne Center in San Antonio is no longer enrolling research patients. 

Jimmy, his sister, mom and dad find themselves stuck in El Paso, unable to get to travel due to a lack of means. But their spirit remains unbroken; they are willing to walk there if necessary. Maria wants to find work here, relying on the skills she’d honed as a geriatric nurse back in Venezuela. “I came here to work,” she said. “I was a nurse back in Venezuela. I came to a foreign country to earn my living just like I did in Venezuela. I am not here to ask for money. I chose to come here, and I am the one that needs to adjust to this country, not them to me.”

 

A Heart-Wrenching Decision

 

Maria understands the grim reality her family faces. Maria and her children are willing to participate in medical research to help future generations. “Mama, if I can be the child that helps them find a cure, I’ll give my life for that,” Santi told her.

The Duchenne family believes in the power of science and, more importantly, in the strength of love. “Duchenne doesn’t affect the brain,” Maria says. “My children are brilliant. Santi and Ale go to school despite having only one wheelchair between them, so one goes in the morning, and the other in the afternoon.” 

 

Fighting for Time

 

 

Maria knows that Duchenne will take her sons’ and nephews’ lives far too soon. Yet rather than succumbing to despair, she chooses to fight for every moment she has with them. “I won’t let Duchenne take my sons without a fight. Every day, I fight for their quality of life. If I had to walk to the ends of the earth for them, I would.”

Her story is not just one of resilience but one of love so profound it transcends borders, fear, and unimaginable hardship. “I brought them into this world,” she says, “and I will do whatever it takes to ensure they live with dignity and hope. My love for them knows no limits.”

For Maria and her Duchenne family, the battle continues. They are not just surviving—they are showing the world the true meaning of unconditional love, bravery, and the extraordinary strength of a mother’s heart.