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Tag: Rare

Asheville Area Ticks Carry Lyme Bacteria at Northeast Levels, While Local Doctors Were Trained to Call It Rare

Nearly 40 percent of adult blacklegged ticks collected from residential yards in a small town outside Asheville tested positive for the bacterium that causes Lyme disease, a rate comparable to parts of the Northeast, mid-Atlantic, and upper Midwest where the illness is long established. The finding was published this week in the CDC’s Morbidity and Mortality Weekly Report.

The number carries a second, harder implication for families in western North Carolina. Many clinicians practicing in the region were trained when Lyme disease was considered a northern problem. That training gap is how symptoms get attributed to something else for years.

The study was conducted by researchers from the University of South Carolina, the University of North Carolina at Chapel Hill, and North Carolina State University, working with a residents’ task force in the town of Biltmore Forest.

Inside the Yards of a 1,600 Acre Town

Between November 2024 and August 2025, the team collected 373 ticks from 25 residential properties, dragging cloth across yards each month at 22 of them and accepting specimens that residents collected themselves. Of those ticks, 287, or about 77 percent, were blacklegged ticks, the primary vector of Lyme disease in the eastern United States.

Testing at CDC’s vector-borne disease laboratory in Fort Collins found 19 of 48 adult blacklegged ticks, 39.6 percent, positive for Borrelia burgdorferi, along with three of seven nymphs. Investigators also detected Borrelia miyamotoi in two adults and two larval pools, and the human active strain of Anaplasma phagocytophilum in four adults. Both can cause serious illness. The MMWR report notes these may represent the farthest south those two pathogens have been identified in blacklegged tick populations.

Earlier surveys of public lands in surrounding Buncombe County found infection rates of 13 to 17 percent in nymphs and 25 percent in adults. Because these ticks came from residential yards rather than trails, the authors write that the higher figure suggests greater potential for human disease than previous work indicated.

The Diagnostic Gap the Study Was Built Around

The research grew out of a resident’s long search for an answer. Angela Newnam, now a co-author, spent years pursuing a diagnosis after a bite she got doing yard work in 2015 was initially attributed to a spider. She eventually tested positive for Lyme-related antibodies and worked with town leaders to organize local tick surveillance, which led to the town task force and, in turn, to the research partnership.

“If you find a doctor practicing in western North Carolina who was trained in the mid-90s or earlier, they would’ve been taught that there was no Lyme disease in North Carolina, and a lot of people still have that mentality,” Michael Reiskind, an NC State entomologist and study co-author, told Asheville Watchdog.

Dr. Ross Boyce of the UNC School of Medicine, a co-senior author, framed the stakes in terms of timing. “Lyme disease can be a life-changing diagnosis, especially if not diagnosed and treated early,” he said in a university statement. “The pace at which we’ve gone from zero-to-sixty, essentially within a 10-year period, means that we are behind.”

Reading the Evidence Honestly

This is tick surveillance, not a human incidence study, and the authors list five limitations plainly. The community survey drew a 12.5 percent response rate, which raises the risk of selection bias. Most of the 19 reported human tickborne illnesses were self-reported, and only four people provided medical records. The collection began shortly after Hurricane Helene, and no comparable pre-storm data exist. Monthly collection over one to three days at a time, across a small dragging area, limits conclusions about tick density and seasonality.

None of that undercuts the pathogen finding, which came from laboratory testing of individual ticks rather than from recollection. What it means is that the report establishes elevated exposure risk in a specific place, not a countywide case count. Several authors also disclosed relevant support, including funding from the state health department for tick surveillance, consulting income from a company that makes repellent-treated clothing, and membership on a diagnostic scientific board.

State guidance already reflects the shift. North Carolina public health officials recommend post-exposure preventive treatment with a single dose of doxycycline under specific conditions for people living in or traveling to ten counties: Buncombe, Madison, Yancey, Mitchell, Avery, Watauga, Ashe, Alleghany, Surry, and Stokes. Those counties were selected because they had a high incidence of human Lyme disease or sit between two high-incidence counties, according to state guidance for clinicians. Buncombe, where Biltmore Forest sits, is the southernmost.

Symptoms That Justify Naming Ticks Out Loud

The practical takeaway is a conversational one. Clinicians order Lyme testing when they are prompted to consider it, so patients in the region benefit from mentioning outdoor exposure directly rather than waiting to be asked.

An expanding rash at a bite site, particularly one that clears in the center, is the classic sign, though it does not always appear. Fever, chills, headache, fatigue, muscle and joint aches after outdoor time are worth reporting. Later stage signs include facial drooping, migrating joint swelling, heart rhythm irregularities, and neurological symptoms such as numbness, neck stiffness, or vision changes. Fever with severe fatigue and no rash can point toward anaplasmosis or a Borrelia miyamotoi infection, which requires different consideration than Lyme alone.

Prevention has not changed and remains effective. CDC guidance calls for EPA-registered repellent, permethrin-treated clothing, long pants tucked into tall socks, a full body check after time outdoors, and showering soon after coming inside. Yard measures that discourage deer and rodents reduce the local tick burden. MedicalDaily previously published a full-body tick check guide for peak season.

The research team is working with the town on a response plan that includes reducing tick populations and improving access to appropriate care, and is expanding surveillance into more rural counties around Asheville. The authors also recommend a public health alert for primary care, urgent care, and infectious disease clinicians in the region, which would be the next concrete step to watch for.

Key Questions Answered

What did the study find? About 40 percent of adult blacklegged ticks collected from residential yards in Biltmore Forest carried the bacterium that causes Lyme disease, a rate similar to regions where the disease is endemic.

Does this mean Lyme cases are rising in Asheville? The report measures pathogen prevalence in ticks, not confirmed human cases. It establishes an elevated exposure risk rather than a case count.

Which other pathogens were detected? Borrelia miyamotoi and the human active strain of Anaplasma phagocytophilum, both capable of causing serious illness and possibly detected here farther south than previously documented.

Why do local diagnoses get missed? Many clinicians in the region were trained when Lyme was considered absent from North Carolina, and testing is generally ordered only when a provider considers the possibility.

What symptoms should prompt a conversation about ticks? An expanding rash, or fever, chills, headache, fatigue, and body aches after outdoor exposure. Facial drooping, joint swelling, numbness, or vision changes warrant prompt evaluation.

How can households reduce risk? EPA-registered repellent, permethrin-treated clothing, tucked pants, a full body check after time outdoors, showering soon after, and yard changes that discourage deer and rodents.

Is Lyme disease treatable? Yes. Early Lyme disease responds well to antibiotics. Delayed diagnosis is associated with more complicated illness, which is why early recognition matters.

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August 16, 2026
Her Laughing Fit Made Her Lose Consciousness While Driving, Exposing a Rare Heart-Related Reflex

A 57-year-old woman was driving with her daughter beside her when they both started laughing hard. Mid-laugh, she lost consciousness. Her daughter grabbed the wheel and steered the car off the road, avoiding a major collision. The woman came round shortly afterward with a fractured left wrist and no memory of the seconds that had passed.

It was not the first time. She had blacked out during a laughing fit at home once before, and nobody had worked out why.

Her general practitioner referred her to an urgent cardiology clinic, where the resulting workup produced a diagnosis most people have never heard of, and many clinicians never encounter: laughter-induced syncope. The case report appears in Clinical Case Reports, written by Stephanie Abutu and colleagues at Kettering General Hospital and the University of Leicester.

The Monitor Caught It Happening in Real Time

Fainting is a common complaint, and it is frequently evaluated without any precipitating cause ever being identified. Establishing a trigger usually depends on a patient’s own account, which is exactly what makes it easy to get wrong.

This case is unusual because the event was captured. Her resting 12-lead electrocardiogram was normal, with no QT prolongation, no ST changes and no evidence of pre-excitation. Her echocardiogram showed a structurally normal heart with preserved function on both sides. Then, during 72 hours of continuous heart monitoring, she had another laughter-triggered blackout while the recorder was running, and it showed her heart in normal sinus rhythm throughout.

That combination is the diagnosis. A normal rhythm during loss of consciousness rules out the arrhythmias that would otherwise be the leading suspects and points instead toward a reflex mechanism. Reflex fainting, orthostatic hypotension, and cardiac arrhythmia make up the three broad categories a clinician has to separate, and they carry very different implications for what happens next. It mattered here more than usual, because she had a history of supraventricular tachycardia, which made an electrical cause the obvious first thing to exclude.

A Valsalva Maneuver Hiding Inside a Belly Laugh

Sustained laughter is, mechanically, a form of forced expiration against a partly closed airway. That raises pressure inside the chest, which reduces the volume of blood returning to the heart.

The Leicester team describes the proposed pathophysiology as an exaggerated vagal response or an inappropriate withdrawal of sympathetic tone, leading to transient cerebral hypoperfusion, and they are careful to say the exact mechanism remains unclear. One longstanding hypothesis holds that when the heart contracts hard against an underfilled chamber, mechanoreceptors in the left ventricle misread the situation and trigger a reflex drop in heart rate and blood pressure. Brain blood flow falls, and consciousness goes with it.

The condition also goes by gelastic syncope, from the Greek word for laughter. A case series in Postgraduate Medicine titled “Sitcom Syncope” described three patients who lost consciousness during vigorous laughter. All three underwent exhaustive testing and had an abnormal response to head-up tilt-table testing, leading the authors to propose that gelastic syncope is a variant of vasodepressor syncope. Structural causes have occasionally turned up too, including one patient in whom the trigger was ultimately linked to narrowing of the vertebrobasilar arteries.

Why It Gets Mistaken for Epilepsy

The most important alternative diagnosis is a gelastic seizure, a rare epilepsy in which laughter is the seizure itself rather than the trigger. Gelastic seizures typically arise from a brain lesion and come with automatisms, impaired awareness, or a confused period afterward.

The Leicester team lists the features that separated the two in their patient. The blackouts happened only during genuine, voluntary laughter; there were no automatisms, there was no postictal confusion, and recovery was immediate and complete. They also flag a detail worth noting for anyone reading witness accounts of fainting. Her daughter estimated the episode lasted two to three minutes. The authors caution that bystanders routinely overestimate these durations, and that the episode was in fact brief.

The Real Danger Is Where You Happen to Be

Laughter-induced syncope is generally benign once cardiac and neurological causes are excluded. The harm comes from the fall, or from the vehicle, and the author singles out driving as the high-risk setting that gives this otherwise minor reflex its teeth. In this case, only a passenger’s reaction prevented a crash from becoming something worse.

Treatment is not a pill. The authors describe management as a tailored, trigger-focused approach built on patient education and behavioral modification, and report that at six months the patient had experienced no further episodes after adhering to trigger avoidance. They also note that their patient, a woman with obesity and a prior arrhythmia, does not fit the usual profile, since most reported cases involve middle-aged men without structural heart disease.

Anyone who has fainted, regardless of the trigger, should discuss driving with a clinician and check the licensing rules in their jurisdiction, since reporting requirements and waiting periods vary. The broader lesson the authors draw is about history-taking. A trigger that sounds absurd is still a trigger, and describing it precisely is what steers the workup toward the right answer.

Key Questions Answered

What is laughter-induced syncope?

A rare form of situational reflex fainting in which intense, sustained laughter causes a temporary drop in blood flow to the brain and a brief loss of consciousness.

Is it dangerous?

The fainting itself is usually harmless and self-limiting. The risk comes from injury during the fall or from losing consciousness while driving or operating machinery.

How is it diagnosed?

By excluding structural and electrical heart disease and neurological causes, and ideally by capturing an episode on cardiac monitoring, as happened in this case.

How is it different from a seizure?

Gelastic seizures involve laughter as part of the seizure, often with automatisms, impaired awareness or postictal confusion. Reflex syncope follows genuine laughter and resolves immediately and completely.

Is there a treatment?

There is no established drug therapy. Management focuses on recognizing and avoiding triggers, as well as counseling on high-risk activities.

Should people who faint stop driving?

That depends on the cause, the circumstances, and local law. Anyone who has lost consciousness while driving should stop driving until a clinician has assessed them.

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August 15, 2026
A Rare Epilepsy-Related Death Can Be Easy to Miss, So One State Is Changing How Deaths Are Recorded

Lincoln Abeyta was 10 years old when he died in August 2024. His parents used a seizure monitoring system that alerts after 15 seconds of movement. The seizure lasted about 10.

His name is now attached to a Colorado statute that took effect Aug. 12, and the problem it addresses is one most people never think about: what gets written on a death certificate when someone with epilepsy dies suddenly and an autopsy finds nothing.

Often the answer is nothing useful. “Too often, death certificates list causes as ‘unknown,’” Brian Abeyta, Lincoln’s father, told lawmakers during a Senate recognition of Purple Day in March.

A Death That Leaves No Physical Trace

Sudden unexpected death in epilepsy, known as SUDEP, is defined by what investigators cannot find. It is a sudden, non-traumatic, non-drowning death in a person with epilepsy where a postmortem examination turns up no anatomical or toxicological cause. It frequently happens during sleep and is frequently unwitnessed.

Incidence clusters around 1.2 per 1,000 person-years among adults with epilepsy and about 0.22 per 1,000 in children, according to a published review, rising to roughly 6.7 per 1,000 in drug-resistant epilepsy. SUDEP is the leading cause of epilepsy-related death in adults. The CDC frames the same numbers differently, telling families that about one in 1,000 adults with epilepsy may die from SUDEP in a given year.

Those figures come with a caveat researchers repeat constantly. Relying only on death certificates likely undercounts SUDEP, partly because many practitioners are unfamiliar with it and partly because autopsy findings are nonspecific.

Epilepsy is not rare. The Centers for Disease Control and Prevention estimated that 3.4 million Americans had active epilepsy in 2015, roughly 3 million adults and 470,000 children, with about 56,800 of them in Colorado. Sen. Iman Jodeh, who sponsored the measure, told the chamber that she is one of roughly 60,000 Coloradans living with the condition.

The mechanism behind SUDEP remains unsettled. The prevailing account holds that a generalized tonic-clonic seizure triggers a centrally mediated collapse of cardiorespiratory function, ending in apnea and cardiac arrest. Orexin, adenosine, and serotonin signaling have all been explored as drug targets. None of it leaves a visible mark for a pathologist to find.

What Colorado Actually Requires

Senate Bill 26-077 is short. Beginning July 1, 2027, a death certification professional must ensure they are aware of the most recent epilepsy-related death certification recommendations from a nationally recognized and reputable organization associated with their medical practice focus, or from the National Association of Medical Examiners.

By June 1, 2027, the state health department must electronically notify all registered users of the Colorado vital events system of the requirement.

The operative provision is the second one. If a death certification professional determines a death is consistent with known or suspected SUDEP, the signed act requires the certificate to identify epilepsy as a contributing or suspected cause of death. The department may also publish online guidance for clinicians and certifiers. The statute has its own short title: Lincoln’s Law.

Jodeh carried it in the Senate. Reps. Lindsay Gilchrist and Katie Stewart carried it in the House. It passed the Senate 33 to 2 and the House 57 to 6 and was signed on April 20.

The Bill Got Smaller on Its Way Through

Worth noting for anyone tracking what the state committed to: the version introduced in January was broader. It would have required a statewide public health campaign on epilepsy and its mortality risks, mandated reporting of all epilepsy-related deaths to a SUDEP registry, and required death investigations to determine whether a death was a direct result of a seizure or epilepsy.

Those elements did not survive. What passed is essentially an awareness-and-documentation requirement, and the final fiscal note records no appropriation.

That narrowing matters for what the law can accomplish. Better death certificate coding improves the data available to researchers and gives families an answer where they previously got none. It does not, by itself, fund a registry, launch an awareness campaign or change how any patient is treated.

Testimony in support came from the Epilepsy Foundation of Colorado and Wyoming, from Children’s Hospital Colorado, and from Lincoln’s parents, Traci and Brian Abeyta, who have pushed for the change since their son’s death.

Why Counting Matters in a Condition Like This

Public health responds to what it measures. If SUDEP is systematically recorded as an unknown cause, it appears smaller than it is in mortality statistics, which affects research funding, clinical attention, and the likelihood that a neurologist raises the topic with a family.

There is also the counseling gap. Advocates argue that families who know the risk exists can at least ask about seizure control, nighttime monitoring, and medication adherence.

The most consistent finding across SUDEP research is that frequent generalized tonic-clonic seizures raise risk. Long duration of epilepsy, nighttime seizures, and certain genetic syndromes also appear on risk lists. Better seizure control is the intervention with the most support.

Whether Colorado’s approach spreads will depend partly on whether it produces usable data. A documentation mandate with no funding and no registry is a modest instrument, and its effect will show up slowly, in mortality statistics rather than in headlines.

None of this substitutes for medical advice. People with epilepsy who have questions about their own risk, or about whether their seizures are adequately controlled, should raise them with a neurologist rather than adjusting anything on their own.

Key Questions Answered

What does Colorado’s new law require?

When a death certification professional determines a death is consistent with known or suspected SUDEP, the death certificate must list epilepsy as a contributing or suspected cause.

When does it start?

The act took effect on Aug. 12, 2026. The certification requirements begin July 1, 2027, with state notification to certifiers due by June 1, 2027.

What is SUDEP?

A sudden, non-traumatic, non-drowning death in a person with epilepsy where autopsy finds no anatomical or toxicological cause. It often occurs during sleep and is often unwitnessed.

How common is it?

Estimates cluster near 1.2 per 1,000 person-years in adults with epilepsy and rise substantially in drug-resistant epilepsy. Researchers believe death certificate data undercount it.

Who is most at risk?

Risk is highest among people with frequent generalized tonic-clonic seizures, long-standing epilepsy, and poorly controlled seizures.

Does the law change medical care?

No. It governs documentation and certifier awareness, not treatment.

What was removed from the original bill?

Provisions for a statewide awareness campaign, a SUDEP registry and expanded death investigation requirements were not in the final version.

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August 14, 2026
Congressional Panel Says the United States Is Losing Its Lead on Rare Disease Cures

A congressional advisory commission has concluded that promising rare disease therapies are failing to reach American patients because of gaps in funding, data, regulation and manufacturing, and that the country’s long-held lead in the field is eroding.

The National Security Commission on Emerging Biotechnology, a bipartisan legislative advisory body chaired by Sen. Todd Young of Indiana, released a white paper identifying four main hurdles and recommending an all-of-government approach to rare disease. Vice Chair Michelle Rozo said in a statement that emerging biotechnology now makes it possible to cure rare diseases rather than manage symptoms for life, and that what the country lacks is a national strategy to channel that innovation.

These are recommendations to Congress. They are not law, not federal policy, and not binding on any agency, which matters for how families should read the coverage.

Four Barriers the Commission Identified

The commission’s framing is that the science increasingly works while the surrounding system does not.

Research investment is the first barrier. Funding for rare disease work is limited relative to the number of conditions, and the large majority of rare diseases still have no FDA-approved treatment more than four decades after the Orphan Drug Act was enacted in 1983.

Data and trial design form the second. Rare disease information sits in scattered registries, individual academic centers and disconnected health systems. The commission’s rare disease white paper argues that new statistical models better suited to small populations are needed, that the FDA should standardize how it handles variability in data from small groups, and that limited patient numbers may require new trial designs and individualized standards.

Regulatory capacity is the third. The commission flagged persistent staffing shortages and knowledge gaps at the FDA that leave the agency less able to assess new technologies, noting that review teams often lack expertise in rare diseases, cell and gene therapy and data science, and that high turnover drains institutional knowledge. Thousands of FDA employees departed or were laid off over the past year, and the agency has since said it is looking to hire roughly 2,200 people.

Manufacturing constraints are the fourth. Producing a therapy for a very small patient population is a different engineering problem from mass production, and capacity for it is limited.

Two Offices It Wants Congress to Create

The commission’s central structural recommendation is not new, which is part of its argument.

It points back to two proposals from its April 2025 final report: a National Biotechnology Coordination Office to align work across federal agencies and streamline regulatory structures, and a biopharmaceutical manufacturing center of excellence to improve the reliability and efficiency of production methods while engaging regulators early. Both have already been introduced as legislation, including the National Biotechnology Initiative Act of 2025, and neither has been enacted.

It also recommends that Congress urge the FDA to finalize its platform technology designation program, which allows validated data from one product to carry over to others built on the same platform. That program launched in 2024 and has had a complicated early record.

The commission situates all of this as a national security question, arguing that developers are increasingly taking work to countries including China and Australia. China’s share of the drug pipeline rose sharply over the past decade, reaching 30 percent of the global drug development pipeline from about 6 percent ten years earlier.

That framing is a choice. Readers can find the identified barriers real while recognizing that the national security packaging reflects the commission’s mandate.

Recommendations Are Not Law

This limitation belongs stated plainly rather than at the end.

An advisory commission produces analysis and recommendations. Congress may act on them, may act on some of them in modified form, or may do nothing. The two offices it recommends have been sitting in introduced legislation without passage, which is a useful indicator of how long this can take.

The report also does not evaluate whether any specific therapy works or should be approved. It is about the system that produces therapies, not about clinical evidence for particular products.

Some federal activity is already moving in adjacent directions. The FDA announced a framework earlier this year aimed at accelerating development of individualized therapies for ultra-rare diseases, inspired in part by the case of an infant treated with a personalized gene-editing therapy, and the commission welcomed FDA’s proposed trial reforms for modernizing clinical trials and prioritizing supply chain security.

Meaning for Families Living with Rare Disease

Nothing in this report changes any patient’s care, and no therapy becomes available because of it.

What families can act on is the part of the problem the report identifies as fragmented data. Enrolling in a disease-specific patient registry is free, takes little time, and is how researchers identify candidates when a trial does open. Many rare disease patient organizations maintain them, and a treating specialist can usually point to the right one.

Genetic diagnosis is the prerequisite for nearly everything else. Patients commonly report years between symptom onset and a confirmed diagnosis, and a therapy cannot be designed or matched without knowing the specific variant. Anyone with an undiagnosed condition suspected to be genetic can ask a clinician about referral to a clinical geneticist or to an undiagnosed diseases program.

ClinicalTrials.gov lists trials by condition and can be checked periodically, since rare disease trials open and close with little publicity. A specialist can assess whether any are appropriate.

Families should be cautious about clinics offering gene therapy or experimental treatments outside registered clinical trials, which operate without the safety oversight legitimate programs require. Cost and coverage questions for approved orphan drugs are worth raising early with a specialty pharmacy, since manufacturer assistance programs and foundation grants exist for many of them.

The bottom line: a bipartisan congressional advisory commission identified limited research funding, fragmented data and trial design problems, regulatory capacity gaps at the FDA, and manufacturing constraints as barriers keeping rare disease therapies from patients; its recommendations are proposals to Congress that have already been introduced without passing, and the most useful step families can take now is genetic diagnosis and registry enrollment.

Key Questions Answered

Who produced the report? The National Security Commission on Emerging Biotechnology, a bipartisan advisory body to Congress chaired by Sen. Todd Young with Michelle Rozo as vice chair. It released a white paper on rare disease therapy development.

What barriers did it identify? Limited research investment, fragmented data and trial design challenges in small populations, regulatory capacity gaps at the FDA including staffing shortages and missing expertise, and manufacturing constraints.

What did it recommend? An all-of-government approach, including a National Biotechnology Coordination Office and a biopharmaceutical manufacturing center of excellence, and urging the FDA to finalize its platform technology designation program.

Are those recommendations new? No. Both offices were proposed in the commission’s April 2025 final report and have been introduced as legislation, including the National Biotechnology Initiative Act of 2025, but have not been enacted.

Does the report change federal policy? No. It contains recommendations to Congress. Establishing new offices would require legislation and appropriations.

Why frame this as national security? The commission’s mandate is to assess biotechnology’s national security implications. It argues developers are shifting work abroad, noting China’s share of the global drug pipeline reached about 30 percent from roughly 6 percent a decade earlier.

What can families do now? Pursue genetic diagnosis through a clinical geneticist, enroll in disease-specific patient registries, and check ClinicalTrials.gov periodically with a specialist’s guidance.

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August 8, 2026
Jesy Nelson’s SMA Victory Highlights How Early Diagnosis Can Rewrite the Future for Babies with Rare Diseases
Former Little Mix singer Jesy Nelson announced this week that all newborn babies in England will be screened for Spinal Muscular Atrophy (SMA), a landmark change following her public campaign after her twin daughters were diagnosed with the rare genetic disorder.

The announcement comes months after Nelson revealed that her daughters, Ocean Jade and Story Monroe, were diagnosed with SMA Type 1, the most severe and common form of the disease.

In an Instagram post, Nelson said the policy change would help ensure no baby is overlooked and give future families the opportunity to access life-changing treatment as early as possible.

The screening program, which uses the routine newborn heel-prick blood test, will identify babies with SMA before symptoms develop, a critical window because available treatments cannot reverse nerve damage that has already occurred.

What Is Spinal Muscular Atrophy?

Spinal muscular atrophy is a rare inherited disorder caused by mutations in the survival motor neuron 1 (SMN1) gene, which encodes a protein essential for motor neuron survival, the specialized nerve cells that control voluntary muscle movement.

Without sufficient protein, these neurons gradually die, causing progressive muscle weakness and wasting. As the disease advances, children may lose the ability to sit, crawl, or walk, while the muscles needed for breathing and swallowing also become weaker.

SMA is traditionally classified into five types based on when symptoms first appear and how severe they become:
- Type 0, the rarest and most severe form of SMA. Symptoms begin before birth, and affected newborns typically have profound muscle weakness along with serious breathing and feeding difficulties.
- Type 1, also called Werdnig-Hoffmann disease, is the most common form. Symptoms usually appear before 6 months of age and include severe muscle weakness, as well as problems with breathing, swallowing, and coughing
- Type 2 generally develops between 6 and 18 months. Children are usually able to sit independently but cannot stand or walk without assistance.
- Type 3, also known as Kugelberg-Welander disease, typically begins after 18 months of age. Although children can usually walk on their own, they may experience increasing difficulty with walking, running, climbing stairs, or rising from a seated position.
- Type 4 is the adult-onset form of SMA and usually appears after age 18. It is the mildest type, with symptoms that typically include gradual, mild-to-moderate muscle weakness, particularly in the legs.
Why Early Diagnosis Matters

Until recently, many children with SMA were diagnosed only after they began missing developmental milestones or showing signs of muscle weakness.

Today, newborn screening can identify the disorder before symptoms appear.

A simple heel-prick blood sample collected shortly after birth can detect SMA, allowing physicians to begin treatment while motor neurons are still healthy.

Because these nerve cells cannot regenerate once lost, every week without treatment can result in permanent loss of muscle function.

Several disease-modifying therapies are now available, including gene replacement therapy and medications that increase production of the survival motor neuron (SMN) protein. Babies treated before symptoms develop are far more likely to achieve milestones such as sitting, standing, and walking than those treated after symptoms appear.

A New Era for Rare Disease Care

SMA has become one of the clearest examples of how newborn genetic screening is reshaping the treatment of rare diseases.

Rather than waiting for symptoms to emerge, healthcare systems are increasingly using genetic screening to identify inherited conditions with effective therapies at the earliest stages of life.

Early diagnosis can improve survival, reduce long-term disability, and spare families the uncertainty that often accompanies delayed diagnoses.

For Nelson, the policy change wouldn’t be able to change her daughters’ diagnosis, but it could transform the lives of future children born with SMA.

As gene therapies continue to advance, experts say their success depends on one critical factor: identifying the disease before it can steal a child’s strength. A simple newborn screening test may now make that possible.
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July 18, 2026
“Transformative Advance” in Cancer Treatment Emerges in Dallas — New Pill Shows Rare Survival Jump in Pancreatic Cancer Patients

For decades, a pancreatic cancer diagnosis was among the most devastating words a patient could hear from their physician. The five-year survival rate for metastatic pancreatic cancer — cancer that has spread to other organs by the time it is caught — has historically hovered around 3%. Standard second-line chemotherapy for patients whose cancer had stopped responding to first-line treatment offered a median overall survival of just 6.7 months. These were not numbers that inspired hope. They were numbers that ended conversations about the future and began conversations about end-of-life planning.

That calculus may be changing. In one of the most significant oncology results of the decade, Revolution Medicines presented Phase 3 trial data for daraxonrasib on May 31, 2026 at the American Society of Clinical Oncology annual meeting in Chicago — the most important cancer research gathering in the world. The results were extraordinary: compared to standard chemotherapy, daraxonrasib nearly doubled overall survival for metastatic pancreatic cancer patients who had already received prior treatment, extending median overall survival from 6.7 months to 13.2 months. It reduced the risk of death by 60%. One-third of patients on the drug achieved at least a 20% reduction in tumor size. For a cancer that has been called “undruggable,” this is a scientific watershed.

The Molecular Breakthrough: Targeting KRAS for the First Time

Understanding why daraxonrasib is historically significant requires a brief excursion into cancer genetics. The KRAS gene — Kirsten rat sarcoma viral proto-oncogene — is mutated in approximately 92% of pancreatic cancer cases, making it the most consistently mutated driver gene in this disease. For over four decades, KRAS was classified as literally undruggable: the protein it produces lacks the obvious binding pockets that most targeted therapies need to attach to and inhibit. Multiple generations of pharmaceutical researchers attempted to develop KRAS inhibitors and failed.

Daraxonrasib belongs to a new class of drugs called pan-RAS inhibitors — molecules engineered to target the RAS protein family in an entirely new way, blocking its activity regardless of which specific RAS mutation is present. The RASolute 302 Phase 3 trial enrolled 500 participants with solid tumors harboring activating RAS mutations, with 300 mg selected as the Phase 3 dose after dose-escalation established the therapeutic window. The drug is administered orally once daily — an important practical advantage over intravenous chemotherapy that requires hospital infusion visits.

Why This Matters Especially for Dallas and Texas

The Dallas–Fort Worth metroplex is home to one of the most formidable oncology ecosystems in the United States. UT Southwestern Medical Center’s Harold C. Simmons Comprehensive Cancer Center, Baylor Scott & White Health, Texas Health Resources, and the UT Health San Antonio MD Anderson Cancer Center Network collectively serve the cancer care needs of tens of millions of Texans. Texas Cancer Registry data show pancreatic cancer among the leading causes of cancer death in the state for both men and women. In Tarrant and Dallas counties combined, hundreds of new pancreatic cancer diagnoses are made each year — the majority of them late-stage, given that pancreatic cancer is notoriously asymptomatic until it has already advanced.

“This achievement exemplifies the strength of UT Southwestern as a premier institution for interdisciplinary patient care, discovery-driven research, and the development of breakthrough therapies,” said Dr. J. William Harbour, Chair of Ophthalmology at UT Southwestern, reflecting the institution’s broader commitment to breakthrough oncology. UT Southwestern’s Simmons Cancer Center is already offering novel whole-liver chemotherapy delivery for rare eye cancers — the first program in Texas and the surrounding region to do so — illustrating how Dallas’s premier academic medical center is positioned to rapidly adopt next-generation treatments as they receive regulatory approval.

The ACS Cancer Statistics 2026: The Bigger Picture of Progress

Daraxonrasib arrives at a moment of genuine, documented progress in cancer outcomes across the board. The American Cancer Society’s Cancer Statistics 2026 report records that the five-year relative survival rate for all cancers combined has reached a historic milestone of 70% during the 2015–2021 period — up from 49% in the mid-1970s. Since the cancer death rate’s peak in 1991, it has declined by 34%, with approximately 4.8 million cancer deaths prevented as of 2023. Prostate cancer death rates have decreased 53% since 1993. Colorectal cancer mortality is down 55% from its 1980 peak. Breast cancer death rates dropped 44% between 1989 and 2023. Metastatic melanoma five-year survival has more than doubled.

For distant-stage cancers — the most advanced, metastatic presentations — the relative survival rate has doubled from 17% in the mid-1970s to 34% in the most recent data period. Dr. Marc Siegel, Fox News senior medical analyst, attributed the improvement to “more awareness of cancer risks and symptoms, much better screening, earlier diagnosis leading to earlier treatments,” and specifically to advances in targeted therapy and immunotherapy. Daraxonrasib, if it receives FDA approval following the Phase 3 data, would represent precisely this kind of targeted advance — a drug designed for a specific molecular driver that is present in a specific tumor type, delivering outcomes that chemotherapy’s blunt-force approach never could.

The One Critical Warning: Funding Threats to Future Progress

The ACS 2026 report is explicit about a threat that must be named alongside the good news: “continued progress is threatened by proposed federal cuts to cancer research and health insurance.” The breakthroughs driving today’s improved survival rates — daraxonrasib, immune checkpoint inhibitors, CAR-T therapies, cancer vaccines — are the downstream product of decades of federal investment in basic science through the National Institutes of Health and the National Cancer Institute. Cutting that foundational research funding now, as multiple federal budget proposals have contemplated, would not produce savings — it would produce future deaths, from cancers that a funded scientific community would have learned to cure.

For Dallas-area patients with pancreatic cancer, the immediate clinical question is access. Daraxonrasib is not yet FDA-approved — Revolution Medicines is expected to file for approval based on the Phase 3 data in the second half of 2026. Patients with pancreatic cancer harboring RAS mutations who have already received first-line chemotherapy should discuss clinical trial eligibility with their oncologist at UT Southwestern, Baylor Scott & White, or Texas Health Resources. Revolution Medicines’ clinical trial locator identifies open enrollment sites for ongoing RAS-inhibitor trials. This is the most important oncology news in pancreatic cancer in decades. Dallas’s world-class cancer infrastructure puts its patients in the best possible position to access it.

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June 5, 2026
How a Rare Elbow Megaprosthesis Restored a Life After 27 Years

The cause traced back to a severe elbow injury in his youth, one that gradually reshaped both bone and daily life. The joint fused, the structure weakened, and simple routines turned into daily negotiations. When he finally reached Vinmec, the challenge extended beyond surgery itself.

The Limits of the Elbow

Years of unsuccessful treatment slowly reshaped Phong’s expectations. Multiple surgeries offered little improvement, and the prospect of living with the deformity became increasingly real, until he reached Vinmec Times City International Hospital.

There, doctors determined that his condition represented an exceptionally complex post-traumatic sequel. “This is an extremely rare case with a very high level of complexity, and there are virtually no precedents in Vietnam,” said Dr. Tran Quyet, Head of Upper Limb Surgery, Musculoskeletal and Orthopedic Trauma Center, Vinmec Times City.

Time had taken more than movement from Phong’s elbow. In fact, it had stripped away much of its structure. The joint was completely fused and unstable, with an estimated six-centimeter defect in the distal humerus, leaving the left arm four to five centimeters shorter than the right.

That degree of damage placed the case beyond the reach of standard elbow replacement. Historically, megaprostheses were developed primarily for limb-salvage surgery in bone cancer. While their use has gradually expanded over time, its application at the elbow, particularly outside oncologic settings, continues to remain uncommon.

Phong’s condition fell into that demanding category, where conventional solutions had long since run out.

Engineering a Second Chance

After extensive multidisciplinary discussions, Vinmec’s medical team reached a decision shaped as much by responsibility as by expertise: a total elbow megaprosthesis combined with reconstruction of the extensive bone defect. For a patient who had already waited 27 years, there was little room for uncertainty.

The work began long before the day of surgery. Using in-hospital 3D technology, surgeons rebuilt Phong’s elbow virtually, layer by layer, studying what time had altered, anticipating what could be restored. CT-based models allowed the team to visualize the deformity in full, plan each step with care, and design a prosthesis tailored specifically to his anatomy. From that digital reconstruction, a patient-specific elbow joint was created using 3D printing.

Vinmec’s doctors created a bespoke elbow joint designed exclusively for Phong.

“The patient has waited for 27 years. Another failure would have had a severe psychological impact. That is why we were determined to create a new opportunity to change his life,” Dr. Quyet stated.

That preparation changed everything. The surgery was completed successfully, with no nerve or vascular injury recorded. Within three days, Phong was able to begin gentle movement of his arm. Two weeks later, he could extend and flex the elbow, lift his arm, and raise it overhead.

“After nearly 30 years, I finally feel like I have a normal arm again,” Phong said. “It moves so naturally, almost as if I never had surgery at all.”

Yet the most profound outcome was not measured in surgical time or range of motion. It emerged quietly, as a man who had learned to live within limitation began to reclaim independence, through ordinary actions.

Advancing Orthopedic Excellence

Such a miracle did not happen in an instant. It emerged gradually, shaped by a series of groundbreaking clinical achievements. In 2025, Vinmec carried out a personalized total femoral replacement using 3D-printed metal for a young child with aggressive bone cancer—preserving the limb in a case where amputation had been widely advised. Earlier, the system became the first hospital in Southeast Asia to successfully perform a fully 3D-printed titanium chest wall reconstruction.

These landmark procedures exemplify Vinmec’s patient-centered philosophy, where multidisciplinary expertise converges to confront the most complex conditions.

Stories like Phong’s extend far beyond Vietnam. They echo among patients worldwide, many of whom have been told that options are exhausted. At Vinmec International Healthcare System, growing clinical evidence shows that those paths are being created thoughtfully and deliberately.

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February 5, 2026
Gene Therapy for Children With Rare ‘Bubble Boy Disease’ Proves Effective After Long-Term Follow-Up

The 62 children who were found to have the rare “Bubble Boy disease” as babies and toddlers between 2012 and 2017 still seem cured after long-term follow-up, after being treated with a genetic therapy for severe combined immunodeficiency.

The results of the trial noted that by 2019, 95 percent of the children, which equates to all but two of the young patients, showed complete immune system reconstruction. And now, years later, long-term follow-up results show that the therapy is still 95 percent effective.

Treatment for Children With Rare “Bubble Boy Disease”

In a statement, a pediatric transplant physician at the University of California, Los Angeles, Donald Kohn, MD, said that the durability of immune function, the consistency over time, and the continued safety profile among the children were all encouraging.

Severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID) is typically caused by mutations in an individual’s ADA gene. This gene is responsible for creating an enzyme that is essential for a person’s immune function, according to Good News Network.

For kids who have this rare condition, typical daily activities, such as going to school or playing with friends, can result in dangerous, life-threatening infections. If left untreated, ADA-SCID can even be fatal within an infant’s first two years of life.

SCID suddenly became well-known in America in 1984 because of “the boy in the bubble,” David Vetter. He received a special spacesuit from NASA that allowed him to leave his total medical isolation and see the world. However, despite this suit, the boy passed away due to an infection when he was 12 years old.

The researchers who led the multi-center program related to the cured children said that the persistence of healthy immune systems and results of long-term follow-up should be taken as signs that the approach could become a standard treatment for individuals with ADA-SCID, Science Media Centre reported.

An Effective Approach

The families whose lives were previously defined by the strict isolation of affected individuals are now able to describe ordinary childhood milestones that they would never have dreamed were possible.

The gene therapy in question is a treatment that was tested by researchers at UCLA in collaboration with institutions in the United Kingdom. It takes a personalized, cell-based approach to correct an individual’s genetic defect.

The first step in the process is doctors collecting a child’s hematopoietic stem cells from their bone marrow or blood. Then, a laboratory team uses a modified viral vector to deliver a healthy copy of the ADA gene into those stem cells. Finally, those corrected stem cells are returned to the patient, where they then engraft and produce a continual supply of functional immune cells, as per the Valley Vanguard Online.

Originally published on parentherald.com

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November 13, 2025
The Rare Surgery That Saved Their Lives

Born twice? It sounds impossible, but that’s exactly the story of miracle baby Rafferty Isaac in the U.K. At just 20 weeks, he was temporarily removed while in the womb so doctors could perform life-saving surgery on his mother, who had been diagnosed with ovarian cancer. After the complex five-hour procedure, Rafferty was placed back into the womb to finish growing and was “born again” at full term in January.

Rafferty’s mother, 32-year-old Lucy Isaac, was just 12 weeks pregnant when she received the devastating diagnosis of ovarian cancer. The cancerous cells needed to be removed urgently, as delaying treatment until after childbirth would allow the disease to spread, threatening the life. But by then, Lucy had already entered her second trimester, so doctors ruled out the possibility of performing standard keyhole surgery.

That’s when a team of surgeons at John Radcliffe Hospital in Oxford proposed a bold, life-saving solution: an extraordinary and rare procedure that involved temporarily removing Lucy’s womb, still carrying her unborn baby, from her abdomen to reach the cancerous cells hidden behind it, before carefully repositioning it to allow her pregnancy to continue. The surgery was risky to both mother and child and was carried out very rarely.

However, trusting the expertise of her medical team, Lucy agreed to the high-risk surgery in October. During the operation, doctors successfully removed the tumors, which had already progressed to grade two, and began invading the tissues surrounding her ovaries.

During the procedure, Lucy’s womb was outside for two hours, carefully wrapped in a sterile, warm saline pack to replicate the conditions inside the body and maintain the proper temperature. Throughout the operation, two medics closely monitored the child’s heart rate and temperature to ensure his safety.

Rafferty’s birth as a healthy, full-term baby in January, weighing 6lb 5oz, was not just a medical triumph but a deeply emotional milestone for the Isaac family. Just two years earlier, Lucy’s husband, Adam, 42, had undergone a kidney transplant. “To finally hold Rafferty in our arms after everything we have been through was the most amazing moment,” Adam told the Daily Mail.

In the weeks after the delivery, Lucy returned to John Radcliffe Hospital with her miracle baby to express their gratitude to the medical team. “It felt as if I had met him previously. It was a rare and a very emotional experience for me,” said surgeon Hooman Soleymani Majd, who led the team.

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April 22, 2025
Man Hospitalized With Fever, Recurrent Falls Diagnosed With Rare Infection Linked To Lake Swimming In Iowa

A 77-year-old man’s mysterious symptoms, fever, and frequent falls due to fatigue left doctors puzzled for days until they diagnosed him with a potentially fatal Legionnaires’ disease, linked to his vacation swimming in an Iowa lake.

According to the case published in CMAJ, the unidentified patient was admitted to a Winnipeg hospital with fever, cough, and multiple sudden falls due to fatigue. Tests showed an elevated blood cell count, indicating an infection, along with high levels of creatine kinase, suggesting potential kidney damage. Further testing revealed that the patient had developed severe pneumonia.

The patient was initially treated for five days with antibiotics piperacillin-tazobactam, a broad-spectrum antibiotics for pneumonia but his condition did not improve. Doctors then performed a bronchoscopy but could not identify the specific bacteria from the sample.

Although doctors initially requested Legionella testing of the bronchoalveolar lavage culture, the laboratory declined due to a lack of clinical justification. However, after the doctors highlighted the patient’s risk factors including recent travel, exposure to stagnant water, and pneumonia unresponsive to standard antibiotics, the lab proceeded with the test.

While the bronchoalveolar lavage culture tested negative, a urine test confirmed the presence of Legionella. The negative culture result was likely due to recent antibiotic use.

Once Legionnaires’ disease was confirmed, doctors prescribed a 10-day course of antibiotics levofloxacin (750 mg daily). By the fourth day of treatment, the patient had improved significantly and no longer needed supplemental oxygen, allowing him to be discharged from the hospital to continue his recovery at home.

Legionnaires’ disease develops within 10 days after exposure to Legionella bacteria, which enters the body through inhalation from water or soil. Outbreaks have been linked to various water sources, including hot tubs, whirlpools, cooling towers in air conditioning systems, hot water tanks, heaters, decorative fountains, swimming pools, birthing pools, and drinking water.

The initial signs of the infection include headache, muscle aches, and a high fever. Within three days, additional signs may appear, including cough, shortness of breath, chest pain, gastrointestinal issues, and confusion. Though it primarily affects the lungs, it can sometimes lead to infections in other parts of the body, such as wounds or the heart. If left untreated it can lead to life-threatening complications including septic shock, and lung and kidney failure.

A milder form of the infection from the same bacteria causes Pontiac fever, with similar symptoms but doesn’t affect the lungs and generally resolves in a few days.

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February 19, 2025