Understand the current discourse on Pompe Disease on social media.
More specifically:
We extracted around 132K search data points, 1200 Tik Tok videos, 1500 tweets, 1000 Reddit posts, 1000 instagram posts, and 30 Youtube videos, within the geography of the US from May 2021 to April 2023, using curated keywords and hashtags.
Using unsupervised machine learning, our proprietary in-house AI clustered linguistically related inputs into concept clusters. Our team of analysts then interpreted these clusters, teasing out nuanced discourses on the topic.
The discourse were then sized through search - based on our curated keywords. Search data was obtained within a 2-year time period (March 2021 to February 2023).
Finally, from studying the discourses, we picked apart key themes and attitudes, combined data points with other relevant information surfaced during our research, and synthesized the findings into this report.
Harsh Reality
Pompe disease poses significant challenges to daily life, impacting mobility, breathing, and overall health.
Limited Awareness
Challenges persist in diagnosing and treating Pompe disease due to limited healthcare professional expertise.
Emotional Turmoil
Pompe disease patients navigate a complex emotional journey, finding resilience and hope in planning for the future.
Infantile Pompe Disease
Parents of a child with infantile Pompe disease witness their child's physical challenges with a mix of heartache and pride.
Genetic Counselling
The importance of seeking guidance and information to comprehend the implications and manage genetic conditions.
Genetic Screening
Genetic screening plays a vital role in identifying risks and promoting proactive measures for Pompe disease.
IVF For Genetic Disorders
IVF offers couples the option to reduce the risk of genetic diseases in their children.
Advancements In Treatments For Pompe Disease
Medical professionals discuss cutting-edge progress in pompe disease diagnosis and treatment.
Advocacy For Newborn Screening For Pompe Disease
Healthcare professionals call for expanded newborn screening programs to promote early detection and intervention of Pompe disease.
Encouragement Of A Holistic Approach To Pompe Disease
Dietitians and physicians guide patients in effectively managing Pompe condition through tailored diets and targeted exercises.
The harsh reality of Pompe disease is a commonly discussed and searched topic among patients. The lack of awareness among healthcare professionals and society at large creates confusion for patients, reflected in the high search volume and growing interest.
Infantile Pompe disease has garnered increasing attention, with a remarkable 252% growth in interest over the past year. This indicates a greater need for knowledge regarding this specific form of the disease.
Furthermore, the diagnosis of Pompe disease can cause emotional distress, leaving individuals concerned about what lies ahead. In fact, it accounts for 17% of the search data, highlighting the significant impact it has on patients' lives.
The discussions revolve around the significance of seeking advice and information regarding genetic conditions. People emphasize the need for guidance in understanding the implications of their genetic conditions, including the chances of passing them on to their children. The pursuit of professional advice and counseling emerges as an invaluable asset for individuals yearning for direction in effectively managing their conditions. These conversations highlight the desire for knowledge and support in navigating the complexities of genetic diseases.
Genetic screening for potential diseases holds immense significance, as individuals recount their experiences and highlight the importance of not overlooking it, even in the absence of a family history. By undergoing the screening process, couples can identify risks and proactively take preventive measures to safeguard the well-being of their children. It is worth noting that there may be cases of false positives, which can temporarily cause distress. Thorough genetic screening processes that encompass pre-conception, pregnancy, and newborn stages are instrumental in reducing risks and promoting healthier outcomes.
Upon receiving a diagnosis, individuals experience a range of emotions, including uncertainty, numbness, and overwhelming feelings. In some cases, they also face judgment from others who may not fully comprehend the severity of the disease Despite these emotional struggles, there is also resilience and determination present. They speak of finding comfort in planning for the future, setting goals, and living life to the fullest despite the limitations imposed by Pompe disease. These posts highlight the emotional rollercoaster that individuals with the disease experience, emphasizing the need for support, understanding, and empathy from others.
Patients with Pompe disease encounter significant hurdles in finding healthcare professionals who are knowledgeable about Pompe disease. They share instances where it took years to receive a proper diagnosis, and attribute their eventual diagnosis to the expertise of specialized genetic disease specialists. The rarity of the condition is emphasized, with patients feeling that even healthcare providers lack up-to-date information and continuing education on the subject. These posts shed light on the challenges faced by patients with Pompe disease due to limited awareness and understanding within the medical community.
Individuals navigating genetic disorders find solace in the IVF community as they seek support and understanding. They highlight the need for empathy and recognition of the emotional weight borne by those choosing IVF for genetic reasons. Accessible and comprehensive genetic testing options during the IVF process are pivotal in making informed decisions about the well-being of future children. These shared experiences underscore the vital role of personalized care and a supportive environment throughout the entire IVF journey.
Parents of a child with infantile Pompe disease are intimately familiar with the physical hurdles their child endures. From impaired mobility to the necessity of frequent medical treatments and doctor appointments, these young ones face an uphill battle. Witnessing their child's struggles becomes a heart-wrenching experience for parents, as they comprehend the disease's fatal nature and the limited time available. However, amidst the pain, they draw solace from their child's resilience and bravery, rejoicing in moments when their little one exhibits strength and determination.
Living with Pompe disease presents numerous challenges that greatly impact quality of life. This rare condition encompasses a range of serious issues that affect mobility and overall well-being. Muscle weakness, a prevalent symptom, severely restricts mobility, making even simple tasks like walking, or sitting in a chair increasingly challenging. Breathing difficulties further compound the burden. Regular medication administration becomes a crucial medical intervention in managing these effects. These experiences highlight the profound impact of Pompe disease on daily life and the ongoing efforts required to manage its effects.
Doctors, healthcare professionals and the wider medical community are actively engaged in discussions surrounding potential advancements in the diagnosis and treatment of Pompe disease.
One significant area of focus is the utilization of AI and technology to aid in the identification of rare disease patients using electronic health records. This novel approach holds great promise for early detection and timely intervention.
In addition to the exploration of AI, there is continuous progress in the development of new therapeutic options for Pompe disease. The efficacy of next-generation enzyme replacement therapies, such as avalglucosidase alfa and cipaglucosidase alfa, has been investigated in large-scale clinical trials, offering potential improvements over existing treatments.
Other innovative approaches like gene transfer, antisense oligonucleotides, and substrate reduction therapy are also being studied, bringing hopes for patients struggling with Pompe disease.
A growing discussion within the medical community revolves around the urgent need for newborn screening for Pompe disease and other rare conditions.
Healthcare professionals and experts passionately advocate for expanding the scope of newborn screening programs, aiming to ensure that every infant has the opportunity for early detection and prompt intervention. To address the concerns regarding false-positive and false-negative results, the concept of harmonization has been proposed as a way to minimize such inaccuracies and correct for method differences across laboratories and testing methods.
Many HCPs agree that by identifying affected infants from day one, immediate access to specialized care and therapies becomes possible, potentially mitigating the progression of the disease and enhancing overall outcomes. Moreover, newborn screening empowers families and caregivers with timely and accurate information, allowing for proactive management of the condition.
Dietitians, neurologists, and physical therapists are also joining the discussion on Pompe disease, offering recommended treatment plans that highlight the critical role of diet and exercise. They actively participate in academic conferences and create online videos to provide valuable insights and practical tips on how individuals with Pompe disease can better manage their condition.
Regarding nutrition, dietitians recommend that Pompe patients focus on a well-balanced diet consisting of lean proteins, whole grains, fruits, and vegetables. Adequate protein intake is particularly important to support muscle health.
Meanwhile, physical therapists emphasize the significance of incorporating respiratory muscle training and resistance exercises into the treatment plan for Pompe patients. These specialized exercises can aid in mitigating muscle weakness and improving overall respiratory function.
Awareness and knowledge
Pompe disease often faces a significant challenge in terms of limited awareness and knowledge within the medical community and general public. Many healthcare professionals may not be familiar with the nuances of the condition, leading to delayed or misdiagnosis.
Guidance and counselling
Many individuals and families affected by Pompe disease face a lack of clarity and understanding about the genetic implications of the disease and its broader impact. This can create uncertainty, as they navigate the complexities of family planning, inheritance risks, and managing the disease's progression.
Supportive care environment
Individuals with Pompe disease face a myriad of challenges that significantly impact their quality of life. These challenges can include physical limitations, mobility issues, and the need for specialized medical interventions. Furthermore, emotional struggles can further exacerbate the burden of living with Pompe disease.
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