#InternationalPompeDay: Pompe Foundation presents a captivating session on "Pompe: A rare disease" - The Daily Guardian
Connect with us

News Plus

#InternationalPompeDay: Pompe Foundation presents a captivating session on “Pompe: A rare disease”

Published

on

Pompe Day panel
Pompe Day panel

On International Pompe Day, NewsX in partnership with Pompe Foundation held an enthralling session on ‘Pompe: A rare disease’. NewsX was joined by an expert panel which included Dr Sheela Nampoothiri, clinical professor and the head of the department of pediatric genetics at the Amrita Institute of Medical Sciences and Research Centre, Cochin, Mr Prasanna Shirol,  Co-founder and executive director, Organisation for Rare Disease India, Dr Ratna Dua Puri, a professor and chairperson at the Institute of medical genetics and genomics at Sir Ganga Ram Hospital, New Delhi, Dr Monjori Mitra, Professor at Institute of Child Health, Kolkata, Mr Anil Raina General Manager at Sanofi Genzyme, Mr Sudarshan Kestur, Advocate Meryl Sarah Mammen (Pompe warrior) and Arif (father of a child with Pompe disease).

Mr Prasanna Shirol kickstarted the conversation, he said, “Awareness is very important, especially when it comes to rare and genetic disorders, especially in a country like India, where we have our diverse population of education background and things. Awareness not only for the general public but also for the medical fraternity is very important when it comes to rare diseases. This time is very important because this day happens to be world Pompe day and also, the only treatment for Pompe, which is Myozyme is 15 years, where we are celebrating the 15 years of care and treatment for a deadly chronic disease condition called pumping. ”

As there is not much clarity about the Pompe disease among the common public. Dr Sheela Nampoothiri wonderfully explained the three variety by stating, “Pompe disease is an extremely rare lysosomal storage disorder where there is an accumulation of the glycogen happening in the various parts of the body mainly gets accumulated in the cardiac muscle and also in the skeletal muscle and the patients will probably be presented with, either with hypertrophic cardiomyopathy that means the walls of the heart will be very much thickened.  There are mainly three varieties of Pompe’s disease, the one which is manifesting in the first year of life, is called infantile Pompe disease. And these babies die by somewhere around nine months to one year if they are not getting the correct treatment at that point of time. They should be started on treatment as early as possible, because if the irreversible damage has already happened, then there is no point in giving treatment, the patients won’t be doing that well. The second variety is called juvenile Pompe disease, where they do not have cardiac involvement, but they have mainly muscle involvement, they will be having difficulty getting there from the floor, they will be having difficulty in climbing stairs. The third variety is a late-onset Pompe disease or an adult form of Pompe disease, where the patients will be somewhere very normal till around 16-17 years and they will be having difficulty climbing stairs and difficulty to get up from the floor and they will also be having lung involvement.” 

Citing the problem of how to teach the parents about the rare diseases. Dr Monjori Mitra said, “It’s very difficult to transmit to the parents the telltale signs, the doctor also needs to know. Today, we do find that the awareness of the symptoms amongst the general paediatrician will also low. The parent might come and simply complain that my child is choking is having little physical difficulty in feeding, where the child is otherwise quite healthy, but if a doctor has an awareness that there can be a possibility of competencies, then the first diagnosis goes there and the early pickup.” 

Meryl Sarah Mammen spoke about her own personal struggles with diseases and described, “my journey of Bombay has been a series of misdiagnosis. And my first symptoms were noted when I was in seventh grade when my dance teacher complained about me getting out with the difficulty compared to other children. At first, we didn’t know anything about this and then my parents heard that I was having difficulty climbing stairs. As years passed on, I completely lost most of my moments like climbing stairs, getting up from the ground. Eventually, by the age of 21, I couldn’t even walk, it was really difficult to walk without any kind of support. It was then under Dr Verma, we came to know about Pompe. Before that doctors diagnosed it as muscular dystrophy because it’s more and more common.” 

Arif shared the Journey of his daughter and said, “under the supervision of Dr Ajay Patil, who has expertise in genetics who guided me well through the Biogen treatment. His valuable suggestions on the usage of the drug helped me improve the health of the Madiha. Ever since Madiha has been started the drug and has seen her heart improving. Just a timeline I want to share at 1 year 3 months, she was on ventilator support for almost a week and was diagnosed with heart and mind. 1 year and four months he was on oxygen support for a month and diagnosed with Pompe disease. One year, five months, she received her first enzyme that is on 3rd August 2012. One and a half years she was oxygen-independent. At two years she started sitting and one year, six months to two years, four months she was on a liquid diet. So around 2 years 5months, she started eating solid food. Three years she started speaking and going to school ”

Dr Ratna Dua Puri highlighted the importance of early treatment and explained, “the basic physiology of the disease remains the same. It presents very early, more the first year of life, there’s a lot of cardiac involvement, we don’t find that in patients of later onset of a disease. It’s very slowly progressing but essentially, the concept of supportive care and definitive care remains the same. And I think what is really important for both infantile and late-onset Pompe, is to diagnose the patients early.”

Mr Anil Raina emphasised the company’s sense of duty and humanitarian efforts during the conversation. He said, “ There are countries that offer treatment support to patients with such debilitating disorders. But there are others where the system is still evolving and just because the system is in a state of evolution, one cannot deny a person the right to treatment. A patient is a patient, irrespective of the geography of that patient. For example, when we started our humanitarian program, which was way back in 1991, this is actually, we are commemorating the 30 years of our humanitarian program. ”

Mr Sudarshan Kestur talked about the legal aspects and said, “Our framers of the Constitution have given us some really wonderful provisions. Most importantly, the High Court and the Supreme Court have very clearly held that the judgments in various stages of clearly held right to life are a part of the liberty that we have under Article 21. Now, having said that, the same principles have been consistently followed by our Karnataka High Court, because of consistent and persuasive orders passed by them, nearly about 45 to 46 children are being supported. So this is one of the actions, where the persistence and the consistent effort of the judiciary have to be now placed on record”.

The Daily Guardian is now on Telegram. Click here to join our channel (@thedailyguardian) and stay updated with the latest headlines.

For the latest news Download The Daily Guardian App.

News Plus

I always go to a place, soak in the vibe, and then think about what I can create: Nidhi Khurana

Published

on

Nidhi Khurana is a travel content creator who loves exploring offbeat places. Her content inspires young women to take the road less travelled when it comes to recreational travel. We hosted Nidhi for a frank interview for our latest series, NewsX Influencer A-List. Below are the excerpts from the interview:

We first asked Nidhi to describe her experience with being a travel content creator, to which she told us, “To be very honest, people think that travelling and content creation is an easy job and it is enjoyable, which it is at times, but when it becomes your job, it gets tedious. You are caught up in so many things that you actually forget to enjoy the place.” Summing up her experiences, she said, “So this is what happens with me. I love what I do, I love travelling, but at times I miss out on experiencing things because I’m busy recording them for my audience.” 

Nidhi believes that spontaneity is what keeps her going. She said, “I’m the kind of person who is very spontaneous about things. I do not preplan my shoots. I always go to a place, soak in the vibe, and then think about what I can create for this beautiful place, for my audience.” She also spoke about the technical side of content creation, “When it comes to shooting, editing, it is a whole lot of process, to be very honest. It, at times, takes a toll on you but I believe if you love something, if you’re passionate about something, you just do it.” 

We were then curious to know Nidhi’s views about the struggles that women often go through while travelling solo. Nidhi shared with us, “So, travelling as a woman comes with pros, as well as cons. Pros in the way that at times if there is a long queue and most of the people in the queue are males, and if they see you standing there, they, out of generosity, would let you cut to the beginning of the queue.” She then lists some tips for women travelling alone. “I have been travelling since two years ago but I have not really come across anything that would make me feel unsafe and the key point here would be you choosing the right place and the right moment. It’s on us how we keep ourselves safe because we cannot guess what the other person has in their mind,” said Nidhi. She also advised women to properly research their place of stay and carry pepper spray, among other things. 

For our next question, we asked Nidhi about her best travel experience, to which she narrated about her trip to Goa that she had to, unfortunately, cut short. “That was a very beautiful experience for me in the sense that I got to discover myself. I have been to Goa many times, but this time I had thought that I’ll be exploring the unexplored Goa – the Goa that is beyond beaches,” she said. Narrating the experience further, Nidhi said, “So, I went for forest hikes and I, literally, saw one of the most offbeat beaches in Goa. So this was one of my best travel experiences to date because I was able to rediscover myself as a person, myself as a creator.”

Continue Reading

News Plus

ART EXHIBITION UNRAVELS DICHOTOMY, MULTIPLICITY OF URBAN LANDSCAPE

Published

on

On a busy Saturday evening at the Triveni Kala Sangam in New Delhi, amidst the intellectual conversations, the setting sun and the aroma of filter coffee in the air, stood a shiny white exhibition room, with huge pieces of monochromatic art hung at the walls and people silently observing them, then murmuring something and then looking again.

A new art exhibition titled ‘Layered Dichotomy’ by Delhi-based artist Shruti Binay is being presented in this room at the Triveni Gallery, Mandi House, from November 21 to 30. Shruti, a young, budding artist, through this exhibition of paintings, drawings and mixed media works, attempts to “embrace life’s multiplicity”.

Talking about what inspired this collection, Shruti told ANI, “I am fascinated with the things around me. I stay in Gurgaon, so, for me, buildings, metro bridges, structures, architecture have always fascinated me. I have simplified those structures into lines and forms. I find the urban landscape interesting because I think I see life in it. You see the fabric in some of these paintings, that gives a different kind of life to the piece. In all my paintings you will see something moving, the sense of life is there in most of them.”

She added, “I have tried to include human forms as well because that is the best way to express myself, by connecting with my own self. Most of the paintings have been liked by people and I see the ones with human forms are being liked the most, as people most easily can connect to them.”

In the exhibition the theme of the collection revolves around dichotomy, and it could be seen and reflected in varied ways from one piece to another.

“I like to play with the medium, so in my paintings, you would see different layers created, with different kinds of textures such as paper, fabric, I’ve used tea bags and paper pulp, old paper. There’s a plane surface, and then there is a textured surface as well. Somewhere there is strength and somewhere it’s all worn out. Mostly they are monochromatic, with a wash-off look…but then some colours like blues, greens, reds stand out in other places. That’s the dichotomy I’ve tried to present,” she explained.

Continue Reading

News Plus

URANUS COLLECTS OVER 2.5 TONS OF USED COOKING OIL TO TURN IT INTO BIODIESEL

Published

on

Providing a commercially viable solution to the food industry to dispose of its used cooking oils (UCO), Uranus Oil Corp, a Chennai-based startup in renewable energy and waste management solutions, collects UCO for a price and supplies them to manufacture biodiesel, a cleaner and greener form of diesel.

Uranus has recently set a record by collecting over 2.5 tonnes of UCO in a month from restaurants, hostels, canteens and other similar sources in and around Chennai. UCO poses a threat to human health, when consumed, and to the environment, when dumped untreated. Hence, the Food Safety and Standards Authority of India and Biodiesel Association of India, have recently launched the Repurpose UCO (RUCO) program, to prevent UCO from getting into the food supply chain or the environment, and to use it for producing biofuel.

Uranus is an authorised UCO aggregator, enrolled in the RUCO program. The company distributes ‘RUCO cans’ to hotels, hostels, canteens, and other such outlets to collect the UCO, and supplies the collected oil to Pan Oleo Energy Limited (formerly, DCI Limited), a large-scale biodiesel manufacturer and renewable energy company in Tamil Nadu, which converts UCO into biodiesel, a cleaner and greener form of diesel.

Uranus is scaling up its operations rapidly in order to collect about 15 tonnes of UCO per day by the end of 2022.

In his comments, Mr. Vasanth JB, Co-founder of Uranus Oil Corp, said, “Edible oils are the primary source of unsaturated fats and vitamin E in human diets. They are used in frying, baking, and other types of cooking and food preparations in restaurants, fast foods and households. However, when cooking oils are reheated again and again, they release toxic substances. These oils also increase free radicals in the body which in turn cause inflammation and various chronic diseases. If there is no alternative to collect UCO, they could find their way to smaller restaurants, dhabas, and street vendors or be discarded in an environmentally hazardous manner. Our model offers a commercially appealing and effective solution in this space.”

UCO is a key ingredient in making biofuel, specifically biodiesel which can be used as an alternative to conventional petrodiesel.

Continue Reading

News Plus

Tiktok rival Lomotif launches in India

Published

on

With Tiktok’s ban in India, the country continues to witness a rise in content creators, who continue to experiment with short video formats, and apps that become a voice for them to showcase their talent, we have yet another popular US-based app: ‘Lomotif’ joins the bandwagon.

Featuring the currently popular short video format, the app has entered the Indian market at just about the right time with the space constantly evolving. Founded by Singapore-based Paul Yang in 2014, and acquired by ZASH Global Media and Entertainment, the app gives access to a global audience, and its patent technology allows users to immerse themselves in a super-engaging reel format of content. At the same time, with a comprehensive platform such as ‘Lomotif’, competitors should be alert because they are here to stand out.

Since TikTok was banned, the country has seen several local apps emerge and try to stir creators into telling their stories. LOMOTIF, firstly, does not just want the users to create their stories, but do so uniquely and in a way that will make their audience ‘move’ by just being themselves.

Secondly, they want the creators to create and foster global partnerships and that itself makes them a winner. So, with pre-build editing and mixing available and constant endeavors by the app creators to localize content for the Indian audience, we sure have a winner materialising.

‘We were very excited with the initial response to the beta testing of our app in India, which led to launching the app in India with the support from Socialkyte, our strategic partner. The content creation market is ever-growing and LOMOTIF will emerge as a platform where we can see a spirit of collaboration, build a community of creators who want to showcase their realness via their content and a source of entertainment for the viewers. I thoroughly enjoyed the launch and the response was overwhelming.’ says Ted Farnsworth, Chairman & Co-Founder of ZASH Global Media and Entertainment.

Gurjot Batra, Co-founder of Socialkyte says “We always believed Lomotif would be a huge success in India and to see our initial response from the Indian market even exceeded our expectations.”

Vidur Mahajan & Bharat Agarwal, co-founders of Socialkyte added, “We believe collaborations are the new economy and are very excited to bring the Lomotif platform to our creators. The app’s advanced editing tools will truly help them explore their talents”

Interestingly, with a soft launch, they have already kickstarted and initiated a dance-off challenge with none other than the Dance King himself i.e. Remo D’souza. They also had several exciting challenges executed like a #DanceRemix with Shakti Mohan spearheading the same. Several artists have already started using the app to launch their music videos.

On a side note, Socialkyte will enable access to their network of 100,000 influencers collaborating and growing together. They have a specialised dashboard with advanced filters that enables brands to find the right creators for their campaigns. With these common goals and interests, this partnership is bound to be a successful one. Taking all of this into consideration, it’s evident that their vision is simple: to get creators to create diversified and unique content to grow exponentially.

The launch this weekend was spearheaded with Ted Farnsworth, highlighting the app features alongwith popular actors like Asim Riaz, Ravi Kishen, Sanjeeda Sheikh, Adaa Khan, Vikkas Manaktala, YouTuber Anushka Sen and singer Tulsi Kumar. The launch also saw singers Shirley Sethia and Guru Randhawa rocking the stage with their performances.

Continue Reading

News Plus

OUR USP IS TIMELESSNESS: ROHINI SINGH GUPTA, CO-FOUNDER, JUST CHIFFONS

In an exclusive interview with NewsX as part of NewsX India A-List, Rohini Singh Gupta opened up about her brand Just Chiffons, the USP of her company and much more.

Published

on

Rohini Singh Gupta, Co-founder, Just Chiffons, recently joined NewsX for an interview as a part of NewsX India A-list. In the exclusive interview, she opened up about her brand Just Chiffons, the USP of her company and much more. Excerpts:

Speaking about her brand Just Chiffons, Rohini said, “Just Chiffons was started by my mother. She wanted to look for nice chiffons for herself in Indore. She could not find it in the market and so she thought she might as well design herself and started making a few. The relatives started coming in and said, ‘it looks so nice, give it to us,’ and that is how we traditionally started. Slowly and steadily, it has become a name in Indore and in India as well. “

Talking about her journey with the brand and how did she come on board, she reminisced, “I would accompany her in her errands the market and sit with her, the workers and just listen and observe. I also studied BSc so it was very different but I always have an interest in being with my mother all the time, when back home in Indore. I had that interest and slowly when I moved back to Indore after my studies, I started taking an even deeper interest. It came naturally sitting with her and talking about sarees and the colours, the designs. It came very naturally.”

When asked about the USP of Just Chiffons, “Basically, I feel our USP is timelessness. The chiffons are so versatile, yet classic. They can be worn over the period of time. It can be passed through generations. They are very elegant.”

Giving us an insight into the first exhibition of Just Chiffons and response over the years, she said “Over the years, initially people said, ‘oh this is back in fashion.’ We have actually revived it again and now they feel okay, it looks really nice. Another point is our price point. They are not that expensive and cost about 8 to 25 thousand, which is very much viable with everybody. The response has been really good. Since we have also launched our website last year and because of our Instagram and social media, it just come up. Slowly and steadily, we are gaining followers and are getting a lot of queries.”

Talking about the impact of Covid on Just Chiffons, she said, “Covid was obviously a shock for us. The first month, everything was cancelled. We didn’t know what to do but we have to look for the benefit of our artisans and our workers.”

Continue Reading

News Plus

HUNAR HAAT CREATED NEWER OPPORTUNITIES FOR ARTISANS AND CRAFTSMEN: MUKHTAR NAQVI

With 300 stalls, this is the largest participation by the Union Ministry of Minority Affairs in the India International Trade Fair this year.

Published

on

Union Minister for Minority Affairs and Deputy Leader, Rajya Sabha, Mukhtar Abbas Naqvi, while speaking at the conclusion of the annual Hunar Haat event, said that the event had generated crores of rupees for artisans and craftsmen who were engaged in making indigenous products.

Union Minority Affairs Minister Mukhtar Abbas Naqvi at the event

Over 550 artisans and craftsmen from more than 30 States & UTs participated in the 33rd Hunar Haat

Crowd around the stalls of artisans and craftsmen at the event

Over 550 artisans and craftsmen from more than 30 States/UTs participated in the 33rd “Hunar Haat”, organised at India International Trade Fair at Pragati Maidan from 14 to 27 November.

While talking to reporters on the conclusion of Hunar Haat, Naqvi said that while people purchased indigenous exquisite handmade products worth crores of rupees, the artisans and craftsmen have also received orders worth crores of rupees from national as well as international buyers.

“Hunar Haat” was also awarded the prestigious IITF2021 Silver Medal for strengthening its commitment to “Vocal for Local” and its strong presence at Trade Fair.

According to Naqvi, Prime Minister Narendra Modi’s “mantra” of “Vocal for Local” and “Swadeshi to Swavlamban” have encouraged and promoted India’s traditional and ancestral legacy of handloom-handicraft.

With 300 stalls, this was the largest participation by the Union Ministry of Minority Affairs in the India International Trade Fair this year. Canara Bank had set up a stall in the “Hunar Haat” to provide easy loans to artisans and craftsmen for employment and self-employment.

Renowned artists such as Annu Kapoor, Vinod Rathore, Sudesh Bhosale, Roop Kumar Rathore and Sonali Rathore, Suresh Wadekar and Padma Wadekar, Amit Kumar, Mohit Khanna, Prem Bhatia, Osman Mir, Rekha Raaj, Vivek Mishra, Ankita Pathak, Priya Mallick, Bhupendra Singh Bhuppi, Mirza Sisters, Posh James and others made memorable spectacular performances every evening at “Hunar Haat”.

The minister said that Hunar Haat’s virtual and online platform, and GeM portal, have opened enormous opportunities for economic empowerment of artisans and craftsmen. More than 7 lakh artisans, craftsmen and people associated with them have been provided employment and employment opportunities through “Hunar Haat” in the last about 6 years.

The next “Hunar Haat” will be organised at Surat from11 to 20 December; JLN Stadium, New Delhi from 22 December 2021 to 2 January 2022. “Hunar Haats” will also be organised in Mysuru, Guwahati, Pune, Ahmedabad, Bhopal, Patna, Puducherry, Mumbai, Jammu, Chennai, Chandigarh, Agra, Prayagraj, Goa, Jaipur, Bengaluru, Kota, Sikkim, Srinagar, Leh, Shillong, Ranchi, Agartala and other places in the coming days.

Continue Reading

Trending