Ishita Roy

Can Premature Deaths Be Reduced By 50%?

Can premature deaths be reduced by 50%

The goal of a healthier world is not just a distant dream anymore, but an achievable destination, that too within a generation. This has been made possible by the recent advancements and strategies that offered a roadmap to reduce premature deaths by half by 2050. This is also known as the '50 by 50' goal, a strategy, outlined by the Lancet Commission's Global Health 2050 report. 

<h4>Historical Progress In Reducing Premature Deaths</h4>

<span>Life expectancy</span> has seen an upward trend, though steadily, over the past two centuries. It has risen approximately by 2.5 years per decade. This consistent improvement also shows the impact of focused health interventions. A 1993 World Development Report highlighted the potential of targeted investment in cost-effective treatments that could enhance health outcomes, economic growth, and societal welfare. 

Based on these principles, the 2013 Lancet Commission introduced the concept of "grand convergence". This was a vision that aimed at reducing <span>mortality rates</span> from infectious diseases and maternal conditions, especially in the low-income nations to levels seen in wealthier countries. This framework has since guided global strategies and influenced organizations like the World Health Organization and the Global Fund to Fight AIDS, Tuberculosis, and Malaria. 

Since its inception, the grand convergence as a concept has been able to make significant progress that addressed diseases such as HIV and malaria and also in the field of mental health, especially in the low-and middle-income countries. However, the life expectancy was disrupted due to the COVID-19 pandemic, though it has coped up too. 

The Global Health 2050 report emphasizes the importance of cost-effective and scalable interventions. It focuses on 15 priority conditions—ranging from infectious diseases to non-communicable illnesses like cardiovascular diseases and injuries—nations can strategically invest in areas with the greatest impact. Countries like Bangladesh and Ethiopia have already demonstrated success, reducing <span>premature death</span> rates at a pace aligned with the 2050 target.

Steps such as childhood immunizations and affordable cardiovascular treatments, can be packaged into focused modules to enhance accessibility and cost-effectiveness. 

The main aim for all such global health efforts remains to be equity and to reduce disparities in <span>healthcare</span> access as well as outcomes. 

<h4>Any differences made in the life expectancy?</h4>

The average life expectancy from birth rose from 77.5 years in 2022 to 78.4 years in 2023 as per the figures released by the Centers for Disease Control and Prevention (CDC).

The number of deaths recorded in 2023 stood at 3,090,964, which was 189,000 less than in 2022. The rise in life expectancy also saw a hike by 6% drop in the overall mortality rate in the US population. Which, in numbers could be explained as 798.8 deaths per 100,000 people in 2022 to 750.5 per 100,000 in 2023.

The pandemic was a major contributor for America's declining life expectancy rates. It was the 3rd-leading cause of death in 2020, being responsible for more than 10% of all deaths. In 2021, though seen a slight hike, the virus still remained the 3rd leading cause of death, accounting for 12% of the total deaths. Finally, in 2022, the virus became the 4th leading cause of death.

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The goal of a healthier world is not just a distant dream anymore, but an achievable destination, that too within a generation. This has been made possible by the recent advancements and strategies that offered a roadmap to reduce premature deaths by half by 2050. This is also known as the '50 by 50' goal, a strategy, outlined by the Lancet Commission's Global Health 2050 report. Historical Progress In Reducing Premature DeathsLife expectancy has seen an upward trend, though steadily, over the past two centuries. It has risen approximately by 2.5 years per decade. This consistent improvement also shows the impact of focused health interventions. A 1993 World Development Report highlighted the potential of targeted investment in cost-effective treatments that could enhance health outcomes, economic growth, and societal welfare. Based on these principles, the 2013 Lancet Commission introduced the concept of "grand convergence". This was a vision that aimed at reducing mortality rates from infectious diseases and maternal conditions, especially in the low-income nations to levels seen in wealthier countries. This framework has since guided global strategies and influenced organizations like the World Health Organization and the Global Fund to Fight AIDS, Tuberculosis, and Malaria. Has it achieved its goal?Since its inception, the grand convergence as a concept has been able to make significant progress that addressed diseases such as HIV and malaria and also in the field of mental health, especially in the low-and middle-income countries. However, the life expectancy was disrupted due to the COVID-19 pandemic, though it has coped up too. The Global Health 2050 report emphasizes the importance of cost-effective and scalable interventions. It focuses on 15 priority conditions—ranging from infectious diseases to non-communicable illnesses like cardiovascular diseases and injuries—nations can strategically invest in areas with the greatest impact. Countries like Bangladesh and Ethiopia have already demonstrated success, reducing premature death rates at a pace aligned with the 2050 target.What are the steps being taken?Steps such as childhood immunizations and affordable cardiovascular treatments, can be packaged into focused modules to enhance accessibility and cost-effectiveness. The main aim for all such global health efforts remains to be equity and to reduce disparities in healthcare access as well as outcomes. Any differences made in the life expectancy?The average life expectancy from birth rose from 77.5 years in 2022 to 78.4 years in 2023 as per the figures released by the Centers for Disease Control and Prevention (CDC).The number of deaths recorded in 2023 stood at 3,090,964, which was 189,000 less than in 2022. The rise in life expectancy also saw a hike by 6% drop in the overall mortality rate in the US population. Which, in numbers could be explained as 798.8 deaths per 100,000 people in 2022 to 750.5 per 100,000 in 2023.The pandemic was a major contributor for America's declining life expectancy rates. It was the 3rd-leading cause of death in 2020, being responsible for more than 10% of all deaths. In 2021, though seen a slight hike, the virus still remained the 3rd leading cause of death, accounting for 12% of the total deaths. Finally, in 2022, the virus became the 4th leading cause of death.

can premature deaths be reduced by 50%?

Health and Me

FDA Approves blood test that can diagnose alzheimer's

Military Veteran Mom Was Told Her Symptoms Were 'Nothing' Until Diagnosed With A Rare Genetic Disorder Affecting Just 1 In 100,000

military veteran mom was told her symptoms were 'nothing' until diagnosed with a rare genetic disorder affecting just 1 in 100,000

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Curiosity Killed The Cat, But It Could Save Your Brain

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In a landmark decision, U.S. health officials on Friday approved the first blood test designed to aid in the diagnosis of Alzheimer’s disease, potentially transforming the way the memory-destroying illness is detected and treated.

The newly approved test, developed by Fujirebio Diagnostics, Inc., is designed for patients aged 55 and older who are experiencing early symptoms of cognitive decline, such as forgetfulness or confusion. The test detects the presence of beta-amyloid, a sticky protein that builds up into plaques in the brain—a hallmark of Alzheimer’s disease.

Until now, confirming the presence of amyloid plaques has required invasive spinal taps or expensive PET scans, both of which are limited in availability. This blood test offers a far more accessible and less invasive option.

<h4>What Is <span rel="noindex">Alzheimer's</span>?</h4>

Alzheimer’s disease is a progressive brain disorder that slowly destroys memory, thinking skills, and the ability to carry out even simple tasks. It is the most common cause of dementia, accounting for 60–70% of dementia cases worldwide, according to the World Health Organization (WHO).

As described by the Centers for Disease Control and Prevention (CDC), Alzheimer’s is not a normal part of aging, although the greatest known risk factor is advancing age. The condition begins with mild memory loss and can lead to loss of the ability to carry on a conversation and respond to the environment. Changes in the brain often begin years before symptoms appear.

More than 6 million Americans live with Alzheimer’s, and the number is expected to rise significantly as the population ages. Worldwide, the disease affects an estimated 55 million people with dementia, according to WHO figures.

<h4>Expanding Access to New Treatments</h4>

The test’s approval is also expected to broaden the use of recently approved Alzheimer’s drugs such as Leqembi (lecanemab) and Kisunla (donanemab). These drugs work by targeting and helping to clear beta-amyloid plaques from the brain. However, before treatment can begin, doctors must confirm amyloid buildup.

With the new test, that confirmation could come from a simple blood draw rather than more complex procedures. According to Dr. Michelle Tarver, deputy director of the FDA’s Center for Devices and Radiological Health, “Today’s clearance is an important step for Alzheimer’s disease diagnosis, making it easier and potentially more accessible for U.S. patients earlier in the disease.”

It’s important to note that the test is not designed for widespread screening or for people who don’t yet show symptoms. It must be ordered by a physician and used in conjunction with other clinical evaluations. The goal is to support doctors in distinguishing Alzheimer’s from other conditions that can cause memory loss or cognitive problems, such as vitamin deficiencies, depression, or stroke.

For several years, some specialized labs have offered their own amyloid tests without FDA oversight. These tests varied in quality and were typically not covered by insurance, leading to a confusing and unregulated marketplace that some experts have described as a “wild west” of Alzheimer’s diagnostics.

The new approval offers a validated option that doctors and patients can trust, paving the way for more standardized care and insurance coverage.

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US health

alzheimer's

fda approves blood test for alzheimer

In a landmark decision, U.S. health officials on Friday approved the first blood test designed to aid in the diagnosis of Alzheimer’s disease, potentially transforming the way the memory-destroying illness is detected and treated.How the New Blood Test WorksThe newly approved test, developed by Fujirebio Diagnostics, Inc., is designed for patients aged 55 and older who are experiencing early symptoms of cognitive decline, such as forgetfulness or confusion. The test detects the presence of beta-amyloid, a sticky protein that builds up into plaques in the brain—a hallmark of Alzheimer’s disease.Until now, confirming the presence of amyloid plaques has required invasive spinal taps or expensive PET scans, both of which are limited in availability. This blood test offers a far more accessible and less invasive option.What Is Alzheimer's?Alzheimer’s disease is a progressive brain disorder that slowly destroys memory, thinking skills, and the ability to carry out even simple tasks. It is the most common cause of dementia, accounting for 60–70% of dementia cases worldwide, according to the World Health Organization (WHO).As described by the Centers for Disease Control and Prevention (CDC), Alzheimer’s is not a normal part of aging, although the greatest known risk factor is advancing age. The condition begins with mild memory loss and can lead to loss of the ability to carry on a conversation and respond to the environment. Changes in the brain often begin years before symptoms appear.More than 6 million Americans live with Alzheimer’s, and the number is expected to rise significantly as the population ages. Worldwide, the disease affects an estimated 55 million people with dementia, according to WHO figures.Expanding Access to New TreatmentsThe test’s approval is also expected to broaden the use of recently approved Alzheimer’s drugs such as Leqembi (lecanemab) and Kisunla (donanemab). These drugs work by targeting and helping to clear beta-amyloid plaques from the brain. However, before treatment can begin, doctors must confirm amyloid buildup.With the new test, that confirmation could come from a simple blood draw rather than more complex procedures. According to Dr. Michelle Tarver, deputy director of the FDA’s Center for Devices and Radiological Health, “Today’s clearance is an important step for Alzheimer’s disease diagnosis, making it easier and potentially more accessible for U.S. patients earlier in the disease.”Only for Symptomatic PatientsIt’s important to note that the test is not designed for widespread screening or for people who don’t yet show symptoms. It must be ordered by a physician and used in conjunction with other clinical evaluations. The goal is to support doctors in distinguishing Alzheimer’s from other conditions that can cause memory loss or cognitive problems, such as vitamin deficiencies, depression, or stroke.Concerns Over Unregulated TestsFor several years, some specialized labs have offered their own amyloid tests without FDA oversight. These tests varied in quality and were typically not covered by insurance, leading to a confusing and unregulated marketplace that some experts have described as a “wild west” of Alzheimer’s diagnostics.The new approval offers a validated option that doctors and patients can trust, paving the way for more standardized care and insurance coverage.

first blood test to detect alzheimer's gets fda approval

World Hypertension Day 2025

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<span>World Hypertension Day</span> is observed every year to raise awareness about high blood pressure—also called hypertension—and its dangers. This global health campaign highlights the risks of uncontrolled blood pressure, encourages regular check-ups, and promotes healthy living to prevent or manage the condition. Hypertension is a major cause of heart disease, stroke, and kidney failure, but early detection and proper care can help save lives.

World <span>Hypertension Day</span> is marked on May 17 every year. In 2025, it falls on a Saturday—a great opportunity for communities to organize health events, free screenings, and educational drives to spread the message.

The first World Hypertension Day was held in 2005, started by the World Hypertension League (WHL). This global health group launched the day to bring more attention to the rising problem of hypertension. Over the years, more countries and health organizations have joined the movement to inform people about how to prevent, detect, and treat <span>high blood pressure</span>.

Hypertension, or high blood pressure, is a condition where the force of blood against the artery walls is consistently too high. According to the World Health Organization (WHO), hypertension is defined as having a systolic blood pressure reading of 140 mmHg or higher, and/or a diastolic reading of 90 mmHg or higher, on repeated measurements.

The WHO notes, “An estimated 1.28 billion adults aged 30–79 years worldwide have hypertension, most (two-thirds) living in low- and middle-income countries. Only 1 in 5 people with hypertension have it under control.”

High blood pressure is often called the “silent killer” because it usually has no clear symptoms but can cause serious harm to the heart, brain, and kidneys. The World Health Organization (WHO) estimates that about 1.13 billion people around the world suffer from it—many without knowing. World Hypertension Day aims to:

<strong>Raise Awareness: </strong>Teach people that high blood pressure can be managed with regular checks and early action.

<strong>Prevent Health Problems:</strong> Help reduce cases of heart attacks, strokes, and kidney failure by promoting blood pressure control.

<strong>Encourage Healthy Living: </strong>Highlight the role of good food, exercise, quitting smoking, managing stress, and limiting alcohol.

<strong>Improve Healthcare Access: </strong>Push for better access to testing and treatment, especially in poorer areas.

Each year, the day has a theme to focus efforts. The theme for <span>World Hypertension Day 2025</span> is:

“<strong><em>Measure Your Blood Pressure Accurately, Control It, Live Longer.”</em></strong>

This theme encourages people to check their blood pressure regularly and take steps to manage it.

<ol><li>2024: “Measure Your Blood Pressure, Control It, Live Longer”</li><li>2023: “Blood Pressure: Measurement, Action, and Knowledge”</li><li>2022: “Know Your Numbers”</li></ol>

<ul><li>Get Checked: Visit a clinic, pharmacy, or use a home monitor to check your blood pressure.</li><li>Spread the Word: Share facts on social media, talk to loved ones, or join awareness events.</li><li>Live Healthy: Start or maintain heart-healthy habits like eating well, moving more, and cutting back on salt and stress.</li><li>Support Change: Advocate for health policies that offer free screenings and affordable treatment for everyone.</li></ul>

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world hypertension day 2025

hypertension day 2025

high blood pressure

World Hypertension Day is observed every year to raise awareness about high blood pressure—also called hypertension—and its dangers. This global health campaign highlights the risks of uncontrolled blood pressure, encourages regular check-ups, and promotes healthy living to prevent or manage the condition. Hypertension is a major cause of heart disease, stroke, and kidney failure, but early detection and proper care can help save lives.When is it Observed?World Hypertension Day is marked on May 17 every year. In 2025, it falls on a Saturday—a great opportunity for communities to organize health events, free screenings, and educational drives to spread the message.OriginThe first World Hypertension Day was held in 2005, started by the World Hypertension League (WHL). This global health group launched the day to bring more attention to the rising problem of hypertension. Over the years, more countries and health organizations have joined the movement to inform people about how to prevent, detect, and treat high blood pressure.Significance Hypertension, or high blood pressure, is a condition where the force of blood against the artery walls is consistently too high. According to the World Health Organization (WHO), hypertension is defined as having a systolic blood pressure reading of 140 mmHg or higher, and/or a diastolic reading of 90 mmHg or higher, on repeated measurements.The WHO notes, “An estimated 1.28 billion adults aged 30–79 years worldwide have hypertension, most (two-thirds) living in low- and middle-income countries. Only 1 in 5 people with hypertension have it under control.”High blood pressure is often called the “silent killer” because it usually has no clear symptoms but can cause serious harm to the heart, brain, and kidneys. The World Health Organization (WHO) estimates that about 1.13 billion people around the world suffer from it—many without knowing. World Hypertension Day aims to:Raise Awareness: Teach people that high blood pressure can be managed with regular checks and early action.Prevent Health Problems: Help reduce cases of heart attacks, strokes, and kidney failure by promoting blood pressure control.Encourage Healthy Living: Highlight the role of good food, exercise, quitting smoking, managing stress, and limiting alcohol.Improve Healthcare Access: Push for better access to testing and treatment, especially in poorer areas.ThemeEach year, the day has a theme to focus efforts. The theme for World Hypertension Day 2025 is:“Measure Your Blood Pressure Accurately, Control It, Live Longer.”This theme encourages people to check their blood pressure regularly and take steps to manage it.Past themes have included:2024: “Measure Your Blood Pressure, Control It, Live Longer”2023: “Blood Pressure: Measurement, Action, and Knowledge”2022: “Know Your Numbers”How Can You Take Part?Get Checked: Visit a clinic, pharmacy, or use a home monitor to check your blood pressure.Spread the Word: Share facts on social media, talk to loved ones, or join awareness events.Live Healthy: Start or maintain heart-healthy habits like eating well, moving more, and cutting back on salt and stress.Support Change: Advocate for health policies that offer free screenings and affordable treatment for everyone.

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For Staff Sergeant Melissa Hay, service wasn’t just a career—it was legacy. Born into a long line of military personnel—her parents, her husband, even ancestors from the Civil War—joining the United States Air Force felt like a natural rite of passage. As an award-winning broadcast journalist stationed at Maxwell Air Force Base in Alabama, Melissa was living her dream. But beneath her decorated exterior and broadcast smile, something far more insidious was taking root inside her body.

As her Air Force career progressed, Melissa found herself wrestling with inexplicable physical ailments. Fatigue. Chronic stomach pain. An inability to sweat. Burning sensations in her hands and feet. These weren’t isolated incidents—they were daily battles that made fulfilling her duties increasingly difficult.

Despite the evident impact on her performance, her symptoms were dismissed. “If you can’t meet your PT standards,” she recalls, “there are consequences.” In the rigid structure of military expectations, unexplained health issues were often seen not as cause for concern but as personal failings.

“I was being punished for something my body wouldn’t let me do,” she says. “All I wanted was to serve my country. And instead, I was being judged for what looked like underperformance.”

Melissa’s persistence eventually led her to question whether something deeper was at play—something that had haunted her family. Her father had died of <span>Fabry disease</span>, a <span>rare genetic disorder</span> affecting the body’s ability to break down a specific type of fat. The disease stems from a deficiency in an enzyme called alpha-galactosidase A, which causes cellular buildup and, over time, leads to severe organ dysfunction.

Melissa suspected that the undiagnosed condition impairing her life might be the same one that killed her father. But when she approached her primary care physician with her concerns and requested testing, she was met with dismissal.

“She looked it up on Google and told me I couldn’t have it—because, supposedly, both parents needed to be carriers. I had to insist she refer me anyway,” Melissa recalls.

Two days later, she had her answer- Melissa had Fabry disease.

For many patients with rare diseases, the path to diagnosis is often the hardest step. Fabry disease can mimic more common conditions like irritable bowel syndrome or chronic fatigue, often leaving patients undiagnosed or misdiagnosed for years.

Women, in particular, are frequently misled. Though often labeled as "carriers," many females with Fabry suffer full-blown symptoms, just like men—only without the same medical attention.

“I was told I wouldn’t suffer like my dad. That I wouldn’t feel what he felt,” she says. “But my body told a different story.”

Her diagnosis brought a mix of emotions—anger for the years spent fighting an unseen enemy, but also relief. She could now receive appropriate medical support and preserve her military career.

Melissa began enzyme replacement therapy in 2014, a bi-weekly infusion designed to slow disease progression. Another treatment option, oral migalastat, is available to certain patients. But neither treatment can reverse the damage already done.

“The therapy helps, but it’s not a cure,” she explains. “Early detection is everything.”

Thanks to improved access to genetic testing, physicians like Dr. William Warnock and Dr. Wallace at UAB are now diagnosing patients earlier, especially women who were once overlooked. “The prognosis today is more optimistic than ever,” Dr. Warnock says. “If we start early, we can drastically improve quality—and quantity—of life.”

Melissa’s biggest fear was passing Fabry disease on to her child. The inheritance pattern is clear: if a woman has the disease, each child has a 50% chance of inheriting it. The stakes are higher for boys, who often experience more severe symptoms and a reduced life expectancy.

“When I found out I was pregnant in 2017, I was elated—and terrified,” she says. Newborn screenings didn’t include Fabry testing. So when her son was four months old, she insisted on early screening.

The results brought overwhelming relief: her son did not have Fabry disease.

“I still live with the disease,” she says, “but knowing my son won’t—that was freedom.”

Today, Melissa’s life is marked by intention. From biweekly treatments to family outings at their local VFW-post-turned-brewery, she is reclaiming her narrative.

“I’m aware of what I’m putting into my body. I know what I need to feel good. And I’m living with hope.”

Melissa continues to serve—not in uniform, but as an advocate for <span>rare disease</span> awareness, women’s health, and veteran support. Her story is a testament to perseverance, self-advocacy, and the power of pushing for answers when no one else is listening.

Thanks to advancements in genetic testing, expanded clinical trials, and increased awareness, the future for Fabry patients looks increasingly hopeful. But Melissa knows that early detection remains the linchpin.

“I’ve got doctors who believe me. A family that supports me. A son who’s healthy. And a career I was able to leave on my terms,” she says.

For Melissa Hay, living with Fabry disease hasn’t meant giving up her identity—it’s meant finding new strength in it.

Fabry disease is a rare, inherited genetic disorder categorized as a lysosomal storage disorder. It occurs when the body doesn’t produce enough of a crucial enzyme called alpha-galactosidase A (alpha-GAL). This enzyme is responsible for breaking down sphingolipids—fat-like substances that, when not processed properly, accumulate in blood vessels and tissues. Over time, this buildup causes damage to vital organs including the heart, kidneys, brain, central nervous system, and skin.

<h2>What Are the Symptoms of Fabry Disease?</h2>

Symptoms can vary depending on the type and severity of the disease. Males typically experience more pronounced symptoms than females. These include:

<ul><li>Numbness, tingling, burning, or pain in hands and feet</li><li>Severe pain during physical activity</li><li>Sensitivity to temperature (heat or cold intolerance)</li><li>Cornea verticillata (a specific eye abnormality detectable via slit-lamp exam)</li><li>Dizziness</li><li>Fatigue, fever, and general flu-like symptoms</li><li>Gastrointestinal issues like diarrhea, constipation, or abdominal pain</li><li>Hearing loss or persistent ringing in the ears (tinnitus)</li><li>Proteinuria (elevated protein levels in urine)</li><li>Angiokeratomas (dark, raised skin lesions on chest, back, or genital area)</li><li>Reduced or absent sweating (hypohidrosis or anhidrosis)</li><li>Swelling in legs, ankles, or feet (edema)</li></ul>

The root cause is a mutation in the GLA gene, which instructs the body to produce the alpha-GAL enzyme. When this gene is defective, the enzyme isn’t produced in sufficient quantities, allowing harmful fatty substances to build up in the body, leading to progressive organ damage.

rare disease

fabry disease

rare genetic disorder

female veteran health

misdiagnosis in women

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military health stories

genetic testing awareness

For Staff Sergeant Melissa Hay, service wasn’t just a career—it was legacy. Born into a long line of military personnel—her parents, her husband, even ancestors from the Civil War—joining the United States Air Force felt like a natural rite of passage. As an award-winning broadcast journalist stationed at Maxwell Air Force Base in Alabama, Melissa was living her dream. But beneath her decorated exterior and broadcast smile, something far more insidious was taking root inside her body.As her Air Force career progressed, Melissa found herself wrestling with inexplicable physical ailments. Fatigue. Chronic stomach pain. An inability to sweat. Burning sensations in her hands and feet. These weren’t isolated incidents—they were daily battles that made fulfilling her duties increasingly difficult.Despite the evident impact on her performance, her symptoms were dismissed. “If you can’t meet your PT standards,” she recalls, “there are consequences.” In the rigid structure of military expectations, unexplained health issues were often seen not as cause for concern but as personal failings.“I was being punished for something my body wouldn’t let me do,” she says. “All I wanted was to serve my country. And instead, I was being judged for what looked like underperformance.”Melissa’s persistence eventually led her to question whether something deeper was at play—something that had haunted her family. Her father had died of Fabry disease, a rare genetic disorder affecting the body’s ability to break down a specific type of fat. The disease stems from a deficiency in an enzyme called alpha-galactosidase A, which causes cellular buildup and, over time, leads to severe organ dysfunction.Melissa suspected that the undiagnosed condition impairing her life might be the same one that killed her father. But when she approached her primary care physician with her concerns and requested testing, she was met with dismissal.“She looked it up on Google and told me I couldn’t have it—because, supposedly, both parents needed to be carriers. I had to insist she refer me anyway,” Melissa recalls.Two days later, she had her answer- Melissa had Fabry disease.For many patients with rare diseases, the path to diagnosis is often the hardest step. Fabry disease can mimic more common conditions like irritable bowel syndrome or chronic fatigue, often leaving patients undiagnosed or misdiagnosed for years.Women, in particular, are frequently misled. Though often labeled as "carriers," many females with Fabry suffer full-blown symptoms, just like men—only without the same medical attention.“I was told I wouldn’t suffer like my dad. That I wouldn’t feel what he felt,” she says. “But my body told a different story.”Her diagnosis brought a mix of emotions—anger for the years spent fighting an unseen enemy, but also relief. She could now receive appropriate medical support and preserve her military career.Melissa began enzyme replacement therapy in 2014, a bi-weekly infusion designed to slow disease progression. Another treatment option, oral migalastat, is available to certain patients. But neither treatment can reverse the damage already done.“The therapy helps, but it’s not a cure,” she explains. “Early detection is everything.”Thanks to improved access to genetic testing, physicians like Dr. William Warnock and Dr. Wallace at UAB are now diagnosing patients earlier, especially women who were once overlooked. “The prognosis today is more optimistic than ever,” Dr. Warnock says. “If we start early, we can drastically improve quality—and quantity—of life.”Melissa’s biggest fear was passing Fabry disease on to her child. The inheritance pattern is clear: if a woman has the disease, each child has a 50% chance of inheriting it. The stakes are higher for boys, who often experience more severe symptoms and a reduced life expectancy.“When I found out I was pregnant in 2017, I was elated—and terrified,” she says. Newborn screenings didn’t include Fabry testing. So when her son was four months old, she insisted on early screening.The results brought overwhelming relief: her son did not have Fabry disease.“I still live with the disease,” she says, “but knowing my son won’t—that was freedom.”Today, Melissa’s life is marked by intention. From biweekly treatments to family outings at their local VFW-post-turned-brewery, she is reclaiming her narrative.“I’m aware of what I’m putting into my body. I know what I need to feel good. And I’m living with hope.”Melissa continues to serve—not in uniform, but as an advocate for rare disease awareness, women’s health, and veteran support. Her story is a testament to perseverance, self-advocacy, and the power of pushing for answers when no one else is listening.Thanks to advancements in genetic testing, expanded clinical trials, and increased awareness, the future for Fabry patients looks increasingly hopeful. But Melissa knows that early detection remains the linchpin.“I’ve got doctors who believe me. A family that supports me. A son who’s healthy. And a career I was able to leave on my terms,” she says.For Melissa Hay, living with Fabry disease hasn’t meant giving up her identity—it’s meant finding new strength in it.What Is Fabry Disease?Fabry disease is a rare, inherited genetic disorder categorized as a lysosomal storage disorder. It occurs when the body doesn’t produce enough of a crucial enzyme called alpha-galactosidase A (alpha-GAL). This enzyme is responsible for breaking down sphingolipids—fat-like substances that, when not processed properly, accumulate in blood vessels and tissues. Over time, this buildup causes damage to vital organs including the heart, kidneys, brain, central nervous system, and skin.What Are the Symptoms of Fabry Disease?Symptoms can vary depending on the type and severity of the disease. Males typically experience more pronounced symptoms than females. These include:Numbness, tingling, burning, or pain in hands and feetSevere pain during physical activitySensitivity to temperature (heat or cold intolerance)Cornea verticillata (a specific eye abnormality detectable via slit-lamp exam)DizzinessFatigue, fever, and general flu-like symptomsGastrointestinal issues like diarrhea, constipation, or abdominal painHearing loss or persistent ringing in the ears (tinnitus)Proteinuria (elevated protein levels in urine)Angiokeratomas (dark, raised skin lesions on chest, back, or genital area)Reduced or absent sweating (hypohidrosis or anhidrosis)Swelling in legs, ankles, or feet (edema)What Causes Fabry Disease?The root cause is a mutation in the GLA gene, which instructs the body to produce the alpha-GAL enzyme. When this gene is defective, the enzyme isn’t produced in sufficient quantities, allowing harmful fatty substances to build up in the body, leading to progressive organ damage.

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