Emily Kramer-Golinkoff struggles to breathe easily. Living with advanced cystic fibrosis, she finds everyday tasks like walking and showering draining and difficult.

Cystic fibrosis is the most common fatal genetic disease in the United States, affecting around 40,000 people. Yet Kramer-Golinkoff’s case is particularly challenging because her condition stems from a rare mutation. As a result, the treatments that benefit 90% of cystic fibrosis patients are ineffective for her.

This situation isn’t unique to cystic fibrosis. Across many genetic diseases, major scientific breakthroughs have uncovered hidden mutations behind severe illnesses and led to life-changing treatments. However, for patients with rare genetic variations, therapeutic options remain limited, forcing them to place their hopes in emerging gene therapies.

“We feel pure joy for our friends who have been saved from this sinking ship,” said Kramer-Golinkoff, 40. “But we’re also desperate to join them. It’s incredibly hard to be among the few left behind.”

The difficulty isn’t just scientific—market forces are also at play. Drug companies prioritize developing treatments for the most common mutations to ensure larger markets.

“You need a large enough patient group in a major market for a company to stay interested,” explained Dr. Kiran Musunuru, a gene-editing specialist at the University of Pennsylvania. This results in what he calls “mutational discrimination.”

Charities like Emily’s Entourage, a nonprofit Kramer-Golinkoff helped establish, aim to break these barriers. Their fundraising has fueled early-stage gene therapy research that could benefit patients regardless of their specific mutations.

Although widespread availability of these therapies is still years away, “just having these treatments enter clinical trials provides immense hope,” Kramer-Golinkoff said.

Kramer-Golinkoff’s journey with cystic fibrosis began when she was diagnosed at six weeks old. The disease causes thick, sticky mucus to build up in the body due to a malfunctioning CFTR protein, leading to infections, blockages, and organ damage.

Despite her best efforts, her condition has deteriorated over time. She earned a master’s degree in bioethics, traveled, worked, and built friendships, but eventually developed CF-related diabetes and other complications. The pandemic forced her into isolation with her parents in the Greater Philadelphia area.

“CF is truly a monster of a disease,” she said.

Meanwhile, many others with cystic fibrosis have experienced remarkable health improvements thanks to CFTR modulator therapies that correct the defective protein. These treatments significantly boost lung function, alleviate respiratory symptoms, and enhance overall quality of life.

Unfortunately, these modulators aren’t an option for patients with rare or unknown mutations. Gaps in genetic testing, particularly in underrepresented communities, contribute to these inequities. Research indicates that Black cystic fibrosis patients are more likely than white patients to fall into the group who don’t benefit from available therapies.

To address these disparities, scientists are focusing on “mutation-agnostic” gene therapies—treatments designed to work across all mutations. This strategy is gaining traction in diseases affecting both the lungs and the eyes.

“There’s a strong push to develop these therapies,” said Dr. Garry Cutting of the Johns Hopkins Cystic Fibrosis Center.

Most of the 14 experimental gene therapies for cystic fibrosis aim to deliver healthy CFTR genes directly into patients' cells, correcting the underlying defect regardless of the mutation.

One such therapy, partially funded by Emily’s Entourage, began a clinical trial in November at Columbia University. The goal is to assess the treatment’s safety and effectiveness.

Despite her worsening condition—living with just 30% lung function, diabetes, and lung hypertension—Kramer-Golinkoff remains hopeful.

“You have to make careful choices about how to spend your limited energy,” she said. “But we’re incredibly excited about the promise of gene therapies. They can’t come soon enough.”

When it comes to medicine, it has been time and again proven that women bodies have been studied way less. This is why, even after science being this advance, has often lacked on how women's bodies react to different illness and their cures. It is the same in the case of Tourette syndrome. As per a study published in Neurology, there is an existing gender gap in diagnosing Tourette syndrome (TS).

Researchers have also found that women are not only less likely to be diagnosed with TS, but also experience longer delays in receiving a diagnosis. These findings, led by Dr. Marisela Elizabeth Dy-Hollins of Massachusetts General Hospital, highlight the urgent need for increased awareness and early screening of TS in females.

What Is Tourette Syndrome?

Tourette syndrome is a neurodevelopmental disorder characterized by involuntary, repetitive movements and sounds, known as tics. These can include simple actions like blinking or throat clearing, as well as more complex behaviors such as jumping or repeating words. Tics must persist for at least a year for a diagnosis of TS or persistent motor or vocal tic disorder, where only movement or vocal tics are present.

Although TS is diagnosed about three times more often in males than females, the study suggests that this gap may not purely reflect biological differences. Instead, it may indicate that females are being underdiagnosed or diagnosed later due to differences in symptom presentation or societal biases.

Key Findings of the Study

Analyzing data from 2,109 people with TS and 294 with persistent motor or vocal tic disorder, the study revealed several important gender differences:

Diagnosis Rates: Only 61% of female participants had received a TS diagnosis before participating in the study, compared to 77% of males.

Delayed Diagnosis: On average, it took three years from symptom onset for females to be diagnosed, compared to two years for males.

Age at Diagnosis: Girls were typically diagnosed at an average age of 13, while boys were diagnosed around age 11.

Symptom Onset: Female participants showed slightly later onset of TS symptoms, around 6.5 years old compared to 6 years for males. However, for persistent motor or vocal tic disorder, symptoms actually appeared earlier in females (7.9 years) than males (8.9 years).

A limitation noted by researchers is that most participants were white, which may affect how broadly the findings can be applied across other racial and ethnic groups.

Why Early Diagnosis Matters

"These results suggest that healthcare professionals and parents should actively screen female individuals with tics to give them a better chance of managing symptoms over time," Dr. Dy-Hollins emphasized. Treatment strategies can vary and include:

Education: Teaching families, teachers, and patients about TS to reduce stigma and encourage early help-seeking.

Behavioral Therapies: Approaches like Comprehensive Behavioral Intervention for Tics (CBIT) can significantly help in managing symptoms.

Medications: In severe cases, medicines such as antipsychotics or muscle relaxants may be prescribed.

Watchful Waiting: Mild tics sometimes lessen over time without the need for intensive intervention.

Emotional Support: Addressing the psychological impact of TS is crucial for better overall well-being.

Closing the Gender Gap

Researchers believe differences in how tics present in girls and societal expectations may contribute to the delayed or missed diagnoses. Dr. Dy-Hollins stressed the importance of further research, particularly studies involving more diverse populations. Raising awareness and ensuring equitable healthcare practices are vital to better support all individuals living with Tourette syndrome.

We know it’s a bit personal — but if you're sitting on the toilet right now, reading this, it’s time to rethink your bathroom strategy. Surprisingly, grunting your way through a bowel movement may be doing you more harm than good. Medical experts are now warning that the all-too-common habit of straining with sounds may actually make it harder for you to "go."

But if grunting doesn’t work, what does? Recent research is shining a light on an “interesting” — and more effective — position that could finally make bathroom time easier and healthier. Here’s everything you need to know.

While it might feel natural to push and grunt when you're struggling, studies show it’s not actually helping. In fact, releasing air and sound while straining reduces internal pressure, which is crucial for moving stool along.

When you grunt, you’re essentially letting out the very force that should be helping you pass stool. It's like trying to blow up a balloon with a leaky hole — the energy escapes instead of building pressure where it's needed most. This subtle loss of abdominal pressure means the effort you're making is, ironically, working against you.

A UK report even found that about a third of people are habitual loo-grunters. While it’s not going to cause immediate damage, it certainly won’t make things any easier.

How Your Pooping Position Changes Everything?

The conversation around healthy pooping habits took off globally with the introduction of devices like the Squatty Potty — a footstool designed to help you squat rather than sit during bowel movements. The buzz wasn’t just marketing hype; there’s real science behind it.

Humans, after all, were not designed to defecate while sitting. Evolutionary biology suggests that squatting is the body's natural position for elimination. When we sit, the puborectalis muscle — which wraps around the rectum like a sling — stays partially tense, creating a bend (like a kink in a garden hose) between the rectum and anus to prevent unwanted accidents. Squatting relaxes this muscle fully, straightening out the digestive tract and allowing for smoother, more complete bowel movements.

In other words, sitting keeps your "hose" bent; squatting straightens it out and lets everything flow.

A study published in Digestive Diseases and Sciences by researcher Dov Sikirov measured the time and effort needed for bowel movements in different positions. The findings were clear:

• Subjects who squatted completed their business in about one-third the time compared to those who sat.
• Squatters reported a much easier, more satisfying experience with significantly less effort.
• X-rays also show that the rectum straightens more when squatting, and pressure inside the abdomen is lower — meaning you're straining less and emptying more fully.

The benefits aren’t just about convenience either. Straining during bowel movements is a known contributor to constipation, hemorrhoids, and even pelvic floor issues. Cultures where squatting toilets are the norm, such as in parts of Asia and Africa, report lower rates of these problems, although diet may also play a role.

What Is Squatty Potty?

The Squatty Potty and similar products are simple footstools designed to elevate your knees above your hips while you're seated. This change mimics a squat position, relaxing the puborectalis muscle and straightening out the colon.

While you could technically squat without buying anything — simply by bending deeply at the knees and hips — the stool makes the position much easier to achieve, especially for older adults or those with mobility issues.

And yes, evidence shows it works. People using posture-changing devices report less straining, faster bathroom visits, and a greater sense of “full evacuation.” If you’ve ever left the toilet feeling like you weren’t quite done, a squat stool might be your solution.

Sit vs. Squat: Why the Right Position Matters for Your Health

Western toilets prioritize comfort and decorum over functional anatomy. But if you find yourself frequently constipated, straining, or dealing with hemorrhoids, your toilet posture might be part of the problem.

Squatting isn't just about easier elimination — it’s about long-term digestive health. By relieving pressure during bowel movements, you can potentially lower your risk for common and painful conditions like:

• Constipation
• Hemorrhoids
• Anal fissures
• Pelvic floor dysfunction

When waste moves out of the body more easily, it also means less trapped stool, less bloating, and potentially better gut health overall.

4 Reasons You Should Squat, Not Grunt

If you're still not convinced, here’s why adopting a squatting posture could change your bathroom experience for good:

Reduces Straining: Prevents excessive pushing and lowers the risk of hemorrhoids.

Unkinks Your Colon: Straightens the rectal canal for a smoother passage.

Increases Full Evacuation: Helps you feel more empty after using the bathroom.

Relaxes Your Body Naturally: Aligns with the body's natural anatomy for easier elimination.

Next time nature calls, skip the grunt-fest and rethink your position. Whether you invest in a Squatty Potty or simply use a low footstool to prop up your legs, small changes can lead to big relief.

Modern toilets may have revolutionized hygiene, but when it comes to the natural way to poop, a little squatting can go a long way toward improving your gut health and making every bathroom trip a whole lot easier.

If you've heard the chatter about weight loss jabs and injections like Ozempic showing up in pediatrics, you're not alone — and you're likely full of questions. Are they safe for kids? Are they really effective? Or are we rushing into something without knowing the risks?

While childhood obesity rates continue to rise in the U.S., parents and doctors are looking at all possible ways to help kids with weight issues and that now includes GLP-1 receptor agonists, a type of medication first developed for adults with type 2 diabetes. Before making assumptions, though, it's worth taking a closer look at what the latest studies actually report about prescribing these medications to children and adolescents.

Childhood obesity has reached epidemic levels worldwide, threatening the health of millions of young lives. With conventional interventions proving to be of limited value, the question on everyone's mind is: might highly effective weight-loss drugs such as Ozempic (semaglutide) be a safe option for children? As researchers investigate this potential, a heated controversy has erupted, balancing the promise of pharmacological intervention against its deep uncertainties.

Rates of obesity among youth have risen astronomically in the last several decades. Since 1975, global rates of obesity have increased threefold, while childhood and adolescent rates have risen nearly fivefold, as reported by the World Health Organization. In the United States alone, close to 20% of children aged under 18 have obesity—a condition that has been linked with a plethora of lifetime health dangers, including type 2 diabetes, cardiovascular disease, chronic kidney disease, and severe mental illness.

Likewise, in the UK, data from the NHS in 2022 reported that 15% of children aged between 2 and 15 were considered obese. If not treated, projections by the World Obesity Federation estimate that 250 million children worldwide may be suffering from obesity by 2030. It's not only medical but also economic—lifetime healthcare expenses for addressing childhood obesity in the U.S. can be as much as $20,000 more than their healthy-weight peers.

Is It Safe or Just a Quick Fix for Kids?

Glucagon-like peptide-1 (GLP-1) receptor agonists such as Ozempic and Wegovy have transformed the treatment of adult obesity. These drugs simulate a natural hormone that slows down gastric emptying, enhances sensations of fullness, and suppresses appetite. In adults, GLP-1 treatments have shown impressive advantages not just for weight loss but also for diseases like type 2 diabetes, heart disease, and even Alzheimer's disease, potentially.

As a result of their success in adults, researchers have been looking to see if such benefits can translate to children. A landmark study in 2022 in the New England Journal of Medicine enrolled 201 teens between the ages of 12 and 17. Following 68 weeks of once-weekly injections of semaglutide plus lifestyle intervention, 62% of those enrolled lost at least 10% of their weight, whereas only 8% of those receiving a placebo did. More than half had lost 15% or more of their weight, highlighting the efficacy of the drug.

Worried About Side Effects?

It is to be expected that parents would worry about adding medications such as GLP-1 agonists — including Ozempic — to their child's treatment regimen. Recent research has determined that while GLP-1 injections are very effective in helping adolescents who have obesity lose weight, they do have side effects. The most often reported are nausea, vomiting, diarrhea, and abdominal pain. Fatigue and dizziness are also experienced by some children as their body adapts to the medication.

Studies in medical literature point out that although these side effects are usually tolerable, the long-term effect of GLP-1 administration in young, developing bodies is still under assessment. Clinical trials to date indicate that the majority of side effects are mild to moderate and decrease over time. Nevertheless, serious but rare risks such as pancreatitis and gallbladder disease have been reported, emphasizing the need for continued medical monitoring.

Official Guidelines for Using GLP-1 Drugs in Children With Obesity

Regulatory agencies are gradually embracing these findings in the wake of this. Ozempic itself is not yet approved for pediatric use, but a higher-dose formulation of semaglutide called Wegovy was approved by the FDA in 2022 for adolescents 12 years and above with obesity.

Canada recently revised its national guidelines, suggesting that children as young as 12 might be candidates for GLP-1 therapies if lifestyle interventions alone are not enough. The new guidelines, developed by more than 50 experts and including feedback from families with obesity, focus on a comprehensive approach: integrating behavioral strategies with pharmacologic or surgical approaches when needed.

Are Weight Loss Injections the Right Choice for Managing Childhood Obesity?

Despite growing enthusiasm, the use of Ozempic in young populations remains highly controversial. Critics argue that the long-term safety of GLP-1 agonists in children is unknown. Studies to date have been limited in scope, largely industry-sponsored, and have not adequately measured potential psychological side effects, including risks of disordered eating and body dissatisfaction.

Youngsters and adolescents are especially at risk. The body changes of adolescence, along with strong social demands, make adolescent weight control tricky. Specialists alert that medicalizing weight loss at this pivotal time of development potentially has unforeseen mental health costs, including increased vulnerability to eating disorders, worry, and despondency.

Additionally, there are no long-term data on the effects of these drugs on growth, hormonal development, or future fertility. In recognition of these uncertainties, the U.S. Preventive Services Task Force has suggested against the routine use of weight-loss medications in children due to a lack of evidence of long-term safety.

How is Obesity In Kids Treated Currently?

Structured lifestyle interventions—focusing on diet, exercise, and behavioral modification—are currently the first-line management of childhood obesity. They are only abandoned when these prove unsuccessful, and more intrusive measures, such as pharmacotherapy or bariatric surgery, are then sought. Conventional methods have found it difficult to achieve success, though, considering the environmental and socio-economic determinants affecting a child's capacity for a healthy way of living.

Obese adolescents are frequently bullied, stigmatized, and subject to systemic barriers that reinforce their condition. These events not only complicate weight loss but also contribute to severe mental health issues, such as self-injury and suicidal thoughts.

What Pediatricians Want Parents to Know About Ozempic and Childhood Obesity

When managing childhood obesity, pediatricians emphasize that weight loss injections such as Ozempic are not meant to be a magic pill. Specialists highlight that Ozempic is intended to complement not substitute for improved eating habits, more physical activity, and emotional balance.

Pediatricians encourage parents to understand that obesity is a complex, chronic illness that is typically driven by genetics, environment, and behavior. Weight loss shots can be a useful tool for kids with severe obesity, particularly when standard therapies have failed. But physicians warn that unless the underlying causes — including diet, screen time, and mental health — are tackled, the rewards of Ozempic may not last long.

Although GLP-1 receptor agonists represent an exciting new agent for the treatment of pediatric obesity, their introduction should be carefully considered. Physician experts recommend scrupulous selection of patients, thorough counseling, and regular follow-up to confirm that medications form part of an overall supportive plan of care to meet physical as well as psychologic needs.

Additional independent, long-term research is essential to truly appreciate the consequences of prescribing drugs such as Ozempic to children. As the situation continues to change, clinicians, families, and policymakers need to weigh the imperative to treat the obesity epidemic against the moral obligation to protect children's future health.

In the meantime, the application of Ozempic and other such drugs to adolescents is a promising but complicated territory one that requires cautious deliberation, intense study, and an unwavering commitment to placing children's health interests above all else.