Living with a rare genetic mutation: advanced cystic fibrosis

Credits: Canva and (R) Emily Kramer-Golinkoff (AP)

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Updated Apr 28, 2025 | 07:00 AM IST

Living With A Rare Genetic Mutation: Advanced Cystic Fibrosis

SummaryBattling a rare mutation of cystic fibrosis, Emily Kramer-Golinkoff fights for her life — and for gene therapies that offer hope to countless patients left behind.

Emily Kramer-Golinkoff, 40, today struggles to take in enough oxygen with each breath. She is living with advances cystic fibrosis, which makes simple activities like walking or showering, exhausting for her. She is one of the 40,000 Americans who are affected and are living with the most common fatal genetic disease in the United States.

As per the National Heart, Lung, and Blood Institute, cystic fibrosis is a genetic condition that changes a protein in the body. The faulty protein then affects the body's cells, tissues, and the glands that make mucus and sweat. Cystic fibrosis cause mucus to become thick and sticky. As a result, it builds up and causes blockages, damages, or infections.

While most are born with this condition and continue to be on the medication throughout, for Kramer-Golinoff's rare genetic mutation cannot be managed by the same medication that help about 90% of cystic fibrosis patients.

"For our friends who have been lifting from the sinking ship, we feel such pure joy. But we just feel so eager and desperate to join them. It is really hard to be in this minority of people left behind," Kramer-Golinoff told the Associated Press (AP).

Rare Mutation And Its Challenges

The gap between patients with common and rare mutations is a growing concern. Advances in genetic science have uncovered the precise causes behind many brutal diseases, offering treatments to some but not all. Patients with rare mutations often face fewer treatment options and a much grimmer outlook.

Market forces contribute to the problem. Drug companies tend to focus on treatments that serve the largest groups of patients. “You need a sufficiently large number of patients in a major market in order for a company to be interested in going forward,” said Dr. Kiran Musunuru, a gene editing expert at the University of Pennsylvania. He described this reality as "mutational discrimination."

Charities, including Emily’s Entourage—a nonprofit co-founded by Kramer-Golinkoff—are working to change this. Their fundraising efforts have helped jump-start gene therapy research that could benefit patients with any mutation. Although these treatments are likely years away, "just to have these therapies in trials provides so much hope," she told the AP.

To Live With Cystic Fibrosis

Kramer-Golinoff was diagnosed with this condition at just six weeks old. “As I’ve gotten older … my CF has gotten worse, despite all my best efforts to delay it,” she shared with the AP. Before her condition worsened, she earned a master’s degree in bioethics from the University of Pennsylvania, traveled, worked, and spent time with friends. But over time, she developed CF-related diabetes and other complications, including frequent infections. Since the pandemic began, she has lived in isolation with her parents in Greater Philadelphia. “CF is a real monster of a disease,” she said.

Meanwhile, newer therapies known as CFTR modulators have dramatically improved life for many cystic fibrosis patients. However, these drugs don't work for those with rare or unknown mutations, often leaving people from underrepresented groups, including Black patients, at a disadvantage.

A Ray Of Hope

One promising solution is developing "mutation agnostic" gene therapies that would work for all patients, regardless of the specific genetic mutation. “There’s a huge push to develop these therapies," said Dr. Garry Cutting of the Johns Hopkins Cystic Fibrosis Center, as reported by AP.

The Cystic Fibrosis Foundation reports that 14 experimental gene therapies are currently in development. Many aim to deliver a healthy copy of the CFTR gene to patients' cells, enabling proper protein function.

Spirovant Sciences, a company partly funded by Emily’s Entourage, is sponsoring one such therapy. The first patient received it in a 53-week clinical trial at Columbia University last November.

Despite her worsening condition—living with 30% lung function, kidney issues, and pulmonary hypertension—Kramer-Golinkoff remains hopeful. “You have to make really conscientious choices … throughout the day on how to use your limited energy,” she told the AP. “We’re incredibly excited about the promise of gene therapies. They can’t come soon enough.”

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Why Are You Always Exhausted After Returning From Office?

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Updated May 13, 2025 | 12:00 AM IST

Why Are You Always Exhausted After Returning From Office?

SummaryCognitive fatigue is the deterioration in the ability to effectively focus. It is primarily caused by prolonged mental work. Also, not moving our bodies can be more draining than moving them throughout the day.

Ever wondered why we feel exhausted after work? Does your post-work schedule also encompass hours of endless scrolling? Do you also feel like lying on your couch and doing nothing? If yes, then you aren't alone. Thousands of people across the world feel the same. Many of them want to play with their pets, solve a puzzle or paint a portrait; however, as soon as they return from office, they feel a drain of energy.

As per experts, this end-of-day exhaustion is a specific kind of tiredness tied to the mental and emotional strain of work, not necessarily the tasks themselves, but the constant switching between demands, decisions and yes, meetings. Health experts describe it as something called cognitive fatigue.

Let's Understand What Exactly Is Cognitive Fatigue

Cognitive fatigue is the deterioration in the ability to effectively and focus effectively. It is primarily caused by prolonged mental work. Many workers might spend their days completing a lot of tasks that aren't urgent or necessary, but do create lots of vacuums of time and mental energy to respond to. Cognitive fatigue occurs when we make many more micro decisions in the day than we need to, and there are so many different touch points that grab our attention in an office. These could be noise, colleagues, phones, Slack or meetings.

Also, not moving our bodies can be more draining than moving them throughout the day, as our bodies are meant to move naturally. Therefore, people with sedentary jobs or back-to-back meetings with little time in between will be the ones most affected by this.

According to psychologists, cognitive fatigue may have multiple symptoms. Some indicators include the following:

  • Difficulty concentrating and staying focused when performing tasks, making decisions, and following conversations
  • A longer time is necessary to complete mental tasks that someone typically performs quickly
  • Manifestation of forgetfulness and difficulty recalling information or events
  • Reduced ability to solve complex problems or think critically
  • Limited creativity
  • More frequent mistakes

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When Does The Allergy Season Start And What Should Be In Your Toolkit?

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Updated May 12, 2025 | 08:30 PM IST

When Does The Allergy Season Start And What Should Be In Your Toolkit?

SummaryNaturally, the most common timeframe for seasonal allergies is during the 'pollen' months, meaning certain plants are pollinating to allow for fertilisation.

Who doesn't love the sight of green buds forming on trees? Or lavender flowers blossoming everywhere? Springtime is always welcome when it arrives…but for a growing segment of people, allergies are a miserable side effect.

Seasonal allergies can occur because of the types of plants that are blooming and fertilising in a given area during a particular time of year. A person experiencing allergies may find themselves with a sniffling nose and watery, itchy eyes. But when is allergy season? And how should you prepare for those seasonal allergies hit?

Which Seasons Are Most Prone To Seasonal Allergies?

Naturally, the most common timeframe for seasonal allergies is during the 'pollen' months, meaning certain plants are pollinating to allow for fertilisation. While there isn't an exact month to pinpoint when seasonal allergies are worst, the most common months are these types of allergies are the worst, the most common months people will experience these types of alllergies are between March and September.

Which allergy you'll be hit with will depend on which pollen you are allergic to. So, that brings us to the question of the most common allergens. Pollen season looks different in different parts of the country. It largely depends on the plants that are native to your region. In the northern United States (US), for example, the three most common pollens are:

  • tree pollen
  • grass pollen
  • weed pollen
Therefore, people allergic to tree pollen will experience symptoms from March through April. Those allergic to grass pollen experience symptoms from late May through July. People allergic to ragweed pollen experience symptoms in August and September.

Keep These Items In Your Toolkit To Battle Seasonal Health

Nasal sprays: While many allergy sufferers turn to antihistamines first, nasal sprays should be the primary daily treatment. Steroid nasal sprays reduce inflammation in the nasal passages, relieving congestion over time. However, they do not provide immediate relief and must be used consistently for several days or up to two weeks for full effectiveness.

Oral antihistamines: Antihistamines in liquid or pill form provide quick relief from seasonal allergy symptoms. For children with severe symptoms, combining antihistamines with a nasal spray can be even more effective. Non-sedating antihistamines such as cetirizine, levocetirizine, loratadine, and fexofenadine are preferred, as they start working within 30 minutes and offer relief for 24 hours. In contrast, diphenhydramine can cause drowsiness and lasts only six hours.

Eye drops: For itchy, watery eyes, allergy eye drops containing olopatadine can help prevent histamine release, the primary trigger for eye irritation. These drops are available in different concentrations, with higher doses recommended for children with severe symptoms. Natural tears and warm compresses can also provide soothing relief.

Beyond medications: If over-the-counter medications are not sufficient, allergy shots (immunotherapy) may be an option. While most health experts do not recommend allergy shots for children under five, school-age children and adolescents with persistent symptoms may benefit from desensitization therapy. Sublingual immunotherapy, approved for grass, weed, and dust mite allergies, offers another treatment alternative.

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Are Heated Tobacco Products A New Health Risk?

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Updated May 12, 2025 | 09:00 PM IST

Are Heated Tobacco Products A New Health Risk?

SummaryAfter struggling to switch to vaping, he found that heated tobacco products provided a closer experience to smoking without the unpleasant aftertaste of vaping.

A new wave of tobacco products is rapidly gaining traction worldwide, but questions about their impact on health remain unanswered. Heated tobacco products, such as IQOS, Ploom, and glo, are being marketed as less harmful alternatives to traditional cigarettes. Unlike conventional cigarettes that burn tobacco, these devices heat it to produce a vapour rather than smoke.

Ben Taylor, an IT consultant and longtime smoker, was intrigued by IQOS, a pen-shaped electronic device developed by Philip Morris International (PMI). After struggling to switch to vaping, he found that heated tobacco products provided a closer experience to smoking without the unpleasant aftertaste of vaping. Taylor reported that his chronic cough vanished after switching, yet he remains uncertain about the potential long-term health effects.

Despite industry claims of reduced harm, health experts caution against accepting these products as safe alternatives. Epidemiologist Silvano Gallus, who has been monitoring the spread of heated tobacco in Italy, warns that they are often marketed to young adults through celebrity endorsements and influencer campaigns. PMI, Japan Tobacco International (JTI), and British American Tobacco (BAT) maintain that they target adult smokers, but concerns persist that heated tobacco products may serve as a gateway to smoking for non-smokers, particularly youth.

Research funded by tobacco companies suggests that heated tobacco emits fewer harmful compounds than cigarette smoke, yet independent studies reveal that these products still release dangerous toxins. For instance, chemical engineer Efthimios Zervas found that while some toxins were reduced, others, such as carbonyl methylglyoxal, were present in higher concentrations. Moreover, a 2024 study in Italy found that non-smokers who started using heated tobacco were 5.8 times more likely to transition to smoking cigarettes within six months.

Public health organisations, including the World Health Organisation (WHO), have expressed concerns about the potential for dual use, where smokers use both cigarettes and heated tobacco products. WHO also noted that heated tobacco products are marketed as cost-effective alternatives, potentially undermining efforts to reduce tobacco use.

As heated tobacco devices return to the US market in 2025, experts emphasise the need for robust, independent research to assess long-term health effects. Until then, they advise consumers to remain cautious and consider quitting tobacco use entirely.

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