Get subscribed to our newsletter
Get interesting updates to your email inbox.
By Shilpika Srivastava
Imagine being not able to walk or even talk. How would you feel if you’re not able to grab your favorite cookie, or even worse, not even eat it? Imagine being locked in. Well, the pain that you can sense is just a tip of the iceberg.
There are many children on this earth who are leading a challenging life every day due to Rett Syndrome (RTT). Rett Syndrome is a rare genetic neurological disease disorder that predominantly affects girls. And, if it affects boys, it results in early death.
With the help of Social Media, NewsGram reached out to a mother of a beautiful girl, Radhika, who is suffering from RTT. “It broke me when I saw her crying and screaming all night due to her regression phase of Rett. I don’t have words to express the feeling of helplessness, desperation and sheer hopelessness,” she said.
Radhika’s mother’s pain is evident and it seems like it’s a never ending journey for her.
Dr. Munish Raizada, a pediatrician and neonatologist based out of Chicago, says that it is disheartening that Rett occurs in 1 girl on every 10,000 female births, and yet awareness of Rett remains painfully low among the general public. In fact, the scene turns ugly as the medical community of India also does not have much clue about Rett Syndrome.
Indian Rett Syndrome Foundation (IRSF) is working profusely to raise public and professional awareness and understanding about the Rett Syndrome. It provides correct information describing diagnosis, causes, therapies, research and other aspects of this disorder.
NewsGram had an in-depth telephonic conversation with Samir Sethi, president of IRSF, who said that RTT is a mutation in the genes, which occurs naturally. RTT does not have any particular cause for it. The secretary of the foundation, Harsh Malhotra, who is also a father of a pretty daughter suffering from the syndrome, said that during the pregnancy itself, the mutation starts taking place in the DNA of the baby.
How RTT is diagnosed and what are its symptoms?
“There are two ways to diagnose it: Clinically and through a genetic test. However, both the tests have to go hand in hand to confirm the diagnosis,” said Mr. Sethi.
He further explained that the children dealing with RTT grow at a normal pace from 6 to 18 months. These children are the ones who have missed their milestones. A normal child is supposed to start sitting at about six months. However, when a girl is suspected of suffering from RTT, it is likely that she may not start to maintain her balance while sitting until about 9 months or 12 months. Therefore, instead of picking up the milestones, the child is actually going backwards and missing out on the learning, which turn out to be the first indication of RTT.
“The second indication is regression in the growth of the head circumference. Parents should notice that the head circumference of such children does not grow as a normal child as per the age,” added Mr. Sethi.
Thirdly, the child starts getting aloof. Normally, children at this particular age are very social. They mix with everybody, they play, they run around. RTT girls will behave differently. They will cry. They will be cranky. They will not like to interact with anybody. A lot of RTT’s symptoms are quite similar to that of autism.
Mr. Malhotra told NewsGram that there is one strange observation related to Rett Syndrome: they are very happy children despite the daily challenges, and for some reasons, they are also blessed with good looks. These are the reasons that Rett Children are known as ‘Silent Angels’ all over the world.
How is RTT different than autism?
“Autism is very different from RTT. In many cases of autism, you will not find any physical disability. But in RTT, you will find physical disability in almost every child,” stated Mr. Sethi.
He said that girls diagnosed with Rett Syndrome will not be able to walk. They cannot even speak whereas the autistic children are able to speak. It is very rare for a Rett child to talk.
One typical symptom of girls dealing with the syndrome is hand wringing. They will indulge in stereotypical hand movements and continuously rub their palms.
Is RTT curable?
As of now, there is no cure available for the disease. The only thing that can be done at the present moment is extensive rehabilitation, and physical and occupational therapy. However, there is a ray of hope as a lot of research is ongoing to find the cure of Rett Syndrome.
RTT does not cause death in girls!
Speaking about the life expectancy rate of Rett Syndrome, Mr. Sethi told NewsGram that RTT in itself does not cause mortality. However, it is the complexities from RTT that lead to that makes the girls to lose out on their life.
Such children have a tendency to hold their breath for quite a long time as compared to normal children. This, at times, causes suffocation. In addition, they also have problems in terms of digestion. Many times, the food that should go into the food pipe instead goes into their lungs and causes choking.
“We have not heard of any case where a child dies because of RTT. It’s mostly the problems and complexities that come with Rett that cause the fatality,” says Mr. Sethi.
“One very stubborn problem that Rett children have is of pneumonia. A normal child is able to cough out the infection, but children suffering from the syndrome are not capable of coughing out the infection, which leads to accumulation of infection in the lungs. This is a major problem with Rett children resulting in deaths. On the other hand, as these children are also epileptic, it leads to seizures. It gets so worse at times that an emergency care is needed, and sadly there is none in India, and we lost a few girls like that,” expressed Mr. Malhotra.
How IRSF is trying to help the parents and create awareness about Rett Syndrome?
Mr. Sethi said that it is difficult for parents to coordinate with another doctor for a particular thing. For instance, Rett children also deal with epilepsy. A doctor may give one particular medicine for epilepsy; however, that drug might affect the child’s digestion. Therefore, there is a need of a consultation from a gastroenterologist as well. Therefore, IRSF is trying to bring the parents, care takers and doctors under one umbrella.
IRSF operates an annual program to create awareness about Rett Syndrome. They also visit hospitals and educate the doctors so that the moment they get any children like these, they can refer them to the foundation.
“We are working with ministry of social justice, Delhi government’s Department of Health and Family welfare. A disability certificate is required for all of the children suffering from RTT, and it is in the hand of government to issue the certificates. Also, it’s government’s responsibility to issue health insurances for these children. We are coordinating with the government to provide all these things,” added Mr. Sethi.
Mr. Malhotra tagged on that, “We are working with All India Institute of Medical Sciences , LNJP Hospital, GB Pant Hospital. The key concern is that the local doctors, who are the first point of contact for the parents, do not have a clue about RTT. Therefore, the syndrome often gets misdiagnosed as autism or other neurological diseases.”
The US researchers have discovered a class of immune cells that plays a role in miscarriage, which affects about a quarter of pregnancies.
Researchers at the University of California-San Francisco found that the recently discovered subset of cells known as extrathymic Aire-expressing cells in the immune system may prevent the mother's immune system from attacking the placenta and fetus.
The researchers showed that pregnant mice who did not have this subset of cells were twice as likely to miscarry, and in many of these pregnancies fetal growth was severely restricted.
ALSO READ: Can You Drink Coffee While You're Pregnant?
"When you're pregnant, the immune system is seeing the placenta for the first time in decades -- not since the mother made a placenta when she herself was a fetus," said Eva Gillis-Buck, from UCSF.
"Our research suggests that this subset of immune cells is carrying out a sort of 'secondary education' -- sometimes many years after the better-known population of the educator cells have carried out the primary education in the thymus -- teaching T cells not to attack the fetus, the placenta and other tissues involved in pregnancy," she added. The findings are published in the journal Science Immunology.
The immune system has to be educated not to attack one's own tissues and organs to prevent autoimmune disease. But pregnancy presents a unique challenge since the fetus expresses proteins found in the placenta as well as proteins whose genetics are distinct from the mother.
ALSO READ: The Importance of a Good Mattress for Pregnant
"It was a conceptual leap to link Aire-expressing cells, which are critical for preventing autoimmune disease, to pregnancy," said Tippi Mackenzie, Professor of Surgery at UCSF's Center for Maternal Foetal Precision Medicine.
In the thymus, Aire-expressing cells begin interacting with other immune cells very early in life to teach them what not to attack. The thymus begins to shrink and is nearly gone by adulthood, by which time most immune cells have been educated. But as the thymus shrinks, the population of eTACs in lymph nodes and the spleen expands, the researchers explained.
The study suggests a healthy pregnancy may depend on having these cells around, they added. (IANS/KB)
The tiny emojis being shared on billions of devices worldwide can play a major role in digital communication, with most people saying that emoji compels them to feel more empathy towards others, according to an Adobe report.
Adobe's global emoji study found that emoji even helps people overcome language barriers and form connections that would otherwise be difficult to do.
"We were surprised and delighted by the discoveries made in the survey, most notably how enthusiastic respondents were for emoji as a means to express themselves," the company said in a statement.
ALSO READ: Emoji- A Choice for Interracial Couple
Emojis sometimes get criticized for being overly saccharine, but this sweetness is key when it comes to diffusing some of the heaviness of online communication.
"Many of the emoji are focused on positive emotions, so it's easy to insert them into our conversations and lighten the mood," the Adobe study said.
It's not surprising that over half of those surveyed feel more comfortable using emojis than talking on the phone or in person.
ALSO READ: Apple Previews Selection of Emojis on World
This applies to less intense situations too. Dating, for example, can be tricky — especially when it's online or via digital apps, as it often is now.
The study also found that emoji even helps people overcome language barriers and form connections that would otherwise be difficult to do.
In celebration of World Emoji Day on Saturday, Adobe's '2021 Global Emoji Trend Report' surveyed 7,000 people in the US, the UK, Germany, France, Japan, Australia, and South Korea. (IANS/KB)
Following the grand Richard Branson show where he carried Andhra Pradesh-born Sirisha Bandla and fellow space travelers on his shoulders after successfully flying to the edge of space, it is time for Amazon Founder Jeff Bezos to applaud Sanjal Gavande, one of the key engineers who designed the New Shephard rocket set to take Bezos and the crew to space on July 20.
Billionaire Bezos is set to fly to the edge of space aboard what is touted as the world's first unpiloted suborbital flight. Born in Kalyan, Maharashtra, Gavande is a systems engineer at Blue Origin who always dreamt of designing aerospace rockets.
ALSO READ: Jeff Bezos Used To Review Products On Amazon
After completing Bachelor's in mechanical engineering from the University of Mumbai, she flew to the US in 2011 to pursue a Master's in mechanical engineering from the Michigan Technological University. She also applied for an engineering job at the US space agency NASA but finally landed her dream job at Blue Origin
Sirisha flew to the US in 2011 to pursue a Master's in mechanical engineering from the Michigan Technological University.IANS
Bezos, his brother Mark, aviation pioneer Mary Wallace 'Wally' Funk, and other passengers are set to liftoff from west Texas and travel just beyond the edge of space on July 20. Blue Origin announced this week that Oliver Daemen, an 18-year-old high school graduate from the Netherlands, would join the crew.
Oliver is the son of millionaire Joe Daemen, Founder, and CEO of the Dutch investment company Somerset Capital Partners. Blue Origin, however, did not reveal how much Daemen paid for his son's trip to space. Bezos chose July 20 as the launch date to honor the 52nd anniversary of the Apollo 11 moon landing.
ALSO READ: “We are Tiny”: Elon Musk to NASA
The launch site for Blue Origin's first human flight will be in a remote location north of Van Horn, Texas, from where the firm had launched New Shepard for previous flights. Blue Origin has received final approval from the Federal Aviation Administration (FAA) to carry humans on the New Shepard rocket into space.
On July 12, Bandla touched the edge of space with three others, including Virgin Galactic's billionaire CEO Richard Branson. Bandla vaulted into space onboard VSS Unity 22. After the successful spaceflight, Branson carried the Indian-American on his shoulders while celebrating their flight to space, at Spaceport America in New Mexico. (IANS/KB)