Baby overcomes rare 'premature aging' disease with mother's unwavering love

By Phan Duong   April 30, 2024 | 02:35 am PT
The story of tiny Nguyen Thai An Khue, who weighs just over 5kg at 33 months old, and her mother's boundless love has moved many.

An Khue, affectionately known as Gao, was born in July 2021, appearing as a typical newborn, weighing 3.2 kg and measuring 52 cm in height. However, by six weeks, having gained only 600 grams, her mother, Pham Thi Mai, aged 35, sensed that Gao's growth was stunted.

Amid the Covid-19 pandemic peak in Ho Chi Minh City, accessing medical care was challenging. Eventually, a private clinic diagnosed Gao with hypertonia in her legs, a condition indicating excessive muscle tone possibly linked to brain damage.

The mention of "brain damage" was frightening for Mai, but she focused on caring for Gao as best as she could. Despite her efforts, there was no improvement in Gao’s condition.

An Khue (Gao) at birth, July 2021. Photo courtesy of Gaos family

An Khue (Gao) at birth, July 2021. Photo courtesy of Gao's family

In her desperation, Mai, accompanied by her husband, sought further medical advice at a major hospital. The doctors noted several concerning signs. "At that point, we realized our child had significant health issues, but we lived in uncertainty, not knowing the exact problem or its curability," explained Gao’s father, Nguyen Trung Kien, 37.

Post-pandemic, genetic testing at the Institute of Genetics revealed a mutation in chromosome 1, causing Hutchinson-Gilford Progeria Syndrome (HGPS), a condition leading to premature aging, with affected children typically living only to an average age of 14.5 years. As per the Progeria Research Foundation, only 350-450 children worldwide suffer from this rare disease.

As the pandemic subsided, Gao's family sought further medical evaluations and underwent genetic testing at the Institute of Genetics. The tests revealed a gene mutation on chromosome 1 responsible for Hutchinson-Gilford Progeria Syndrome (HGPS), a condition that causes rapid aging in children, who typically live only to an average age of 14.5 years

As of March 31, 2024, according to documents by the Progeria Research Foundation - the only organization in the world that researches and supports children with this syndrome - the world is home to only 350-450 children with this syndrome.

This extremely rare condition affects only one in every 19 million people. The organization is currently monitoring 149 children diagnosed with HGPS. Since 2001, they have identified 393 cases across 72 countries and territories.

Gao, potentially Vietnam’s first case recognized by the Progeria Research Foundation, showed symptoms from birth, marking her as a particularly unique case. The disease caused her severe muscle and joint issues, altered physical features, and significant developmental delays.

Typically, children with the disease gene start showing symptoms between 18 to 24 months of age. However, Gao exhibited symptoms from birth, leading the Progeria Research Foundation to classify her situation as "a special case of a special disease."

Normally, children carrying the disease gene will develop symptoms between 18-24 months of age. Gao's illness started at birth and has been identified by the Progeria Research Foundation as "a special case of a special disease".

When Gao was born, her arms moved normally, but they have since gradually stiffened, and her protruding ears are now folded back. Her head has grown abnormally large, her hair is falling out, and her skin has become so thin that her blood vessels are visible.

Despite Mai's diligent prenatal care and attending every scheduled doctor's appointment, she still blamed herself and struggled to accept the reality of Gao's condition. Overwhelmed, she retreated inward, becoming withdrawn and listless, unable to find the spirit to engage with life.

Mai and Gao during the 2024 Lunar New Year (Tet) celebrations. Photo courtesy of Gao’s family

Mai and Gao during the 2024 Lunar New Year (Tet) celebrations. Photo courtesy of Gao’s family

Countless times, Mai stood on the balcony holding her child, contemplating jumping off. "During those days, it felt like there was a demon inside me," the 35-year-old woman confessed.

Mai's mother, Luu Thi Men, deeply concerned, hugged her daughter and pleaded with her not to make any rash decisions. When her pleas seemed ineffective, she sternly threatened to take her granddaughter back to their hometown and raise Gao herself.

In her deepest moments of despair, Mai expressed to her husband, "I can't raise Gao anymore, please help me find a good temple for her."

Kien understands Mai's profound love for their daughter, which also explains why she has been the most affected emotionally. Near the Lunar New Year holiday (Tet), he took their two children to their hometown to celebrate, hoping it would give Mai some time alone to find peace.

Throughout that week, whenever Mai called her husband and children, she ended up crying. "With the rest of my family away, I realized that my negativity stemmed from setting unrealistically high expectations for myself," she explained. "I have always been too harsh on my children."

This period of self-reflection allowed Mai to confront a heartbreaking truth: due to her rare disease, Gao might only have a few years to live. "If I don’t embrace and love my child now, when will I ever?" she reflected with regret.

On the 28th of the 12th lunar month that year, Mai returned from her hometown. Waiting at the door were a smiling Kien and their two children, who all embraced in a tearful reunion.

Since that pivotal moment, Mai has dedicated all her time to Gao. She regularly takes her daughter outside to enjoy the fresh air and sunlight, and over time, Mai's heart has grown resilient to the reactions and comments from others when they see Gao.

At home, Mai transforms into a comedian, bringing joy and laughter to Gao's days. She teaches Gao to speak both Vietnamese and English, ensuring that every moment after work is spent engaging with her children.

Due to her condition, Gao struggles with sleep, often becoming irritable from constant discomfort. On many nights, both Kien and Mai have spent hours helping Gao fall asleep. Recognizing that their daughter cannot express her discomfort, they have cultivated patience and gentleness in their care.

"She (Mai) has truly become a person filled with love and optimism, and this transformation has also positively affected our daughter," said Kien, who works as a cameraman.

Gao's developmental milestones such as sitting, crawling, and standing, progress more slowly than those of typical children, but she achieves them over time. She is now able to navigate her way around using tables, chairs, beds, and cabinets to support her movement. Gao has also begun to speak, albeit with a limited vocabulary. "My heart melted the first time I heard her say 'sister' and 'love mom,'" shared Mai, a mother of two.

The family regularly shares videos of Gao's daily activities on social media. These videos highlight her triumphs over adversity and her experiences with discrimination, bringing her story closer to the public. Mai and her husband believe that by sharing these moments, they can change people's perceptions and attitudes, making Gao's life even more meaningful.

The entire family came together to celebrate Gao’s 2nd birthday in July 2023. Photo courtesy of Gao’s family.

The entire family came together to celebrate Gao’s 2nd birthday in July 2023. Photo courtesy of Gao’s family.

Gao quickly became a sensation on various social media platforms. One video, showing her playing hide and seek with her mother, garnered tens of thousands of comments about her adorable expressions. Another popular video featured her playfully making chili smoothies for her father as a prank. Viewers were particularly touched by Gao's tender interactions with her mother and sister.

One viewer commented, "Gao is a little girl with superpowers, who can bring smiles to people and let them feel that love and happiness always exist in this world...I'm so in love with this little girl, she's so small yet smart, clever, and sharp like no one else. I look forward to her clips every day."

Millions expressed their appreciation for Gao's infectious positivity and for Mai's deep, nurturing love for her children. "Gao is so lucky to have a mother who always loves her child and helps her improve, not all mothers can do that," noted another commenter.

Recently, the family has consulted with various doctors but has yet to find a definitive solution for Gao’s condition. Ongoing research and analysis are being conducted on her rare form of Progeria. There is currently a medication available that can extend the lifespan of children with classic cases of Progeria by an average of 35%.

However, Gao's unique circumstances mean that continued research into new drugs and treatment methods is essential, and the organization involved has committed to keeping the family updated on any new developments.

Additionally, the family received assistance from a renowned doctor in Ho Chi Minh City, who helped them make contact with the pediatrics department at a hospital in Singapore. "Our family wants to find a way to help slow down Gao's aging process and help her experience life as gently as possible," Mai expressed.

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