Rare Disease Day 2023

When your best friend is also your daily helper

By Berty Ashley

Ameya Kapur.jpeg

Pic: Ameya & Ahaana Karpur

Karanveer Anand used to say ‘Disability is not a disorder, it is a result of inadequate infrastructure around us’’ . This simply means that while the disease causes mobility restrictions, the feeling of ‘disability’ is largely due to external factors that limit what a person can do: lack of emotional support, infrastructure, specialised devices etc.

This is an oft repeated phrase at the Dystrophy Annihilation Research Trust, better known as DART. DART is a parent-run organisation in Bangalore which was started by a group of families, all of whom had a child with Duchenne Muscular Dystrophy (DMD). Karan’s parents, Ravdeep Anand Singh and Movin Anand were the driving force behind making DART into a nodal centre for DMD on a National scale. DMD is a debilitating genetic disorder that causes Dystrophin, a vital protein which ensures muscles are able to do their job properly, to slowly disappear over time. This means that as the child ages, he (it is an X-linked disorder) gradually loses the ability to use their hands and legs.

This does not however hinder any mental processes, which means that though they might not be able to move easily or use implements they still have the same mental agility as their peers.

This leads to an unfortunate situation of them being dependent on others to carry out even basic tasks like getting ready in the morning. Tasks that able-bodied people take for granted on a daily basis.

Imagine you want to take a quick nap and the bright light overhead is stopping you from doing so. Without even a moment’s hesitation you get up, switch it off, go back to the desk and in a few minutes are fast asleep. Amogh on the other hand cannot. A class X student from Bangalore, he has to depend on either his sister or a parent to come and switch off the light.

Imagine you are lying in bed, and suddenly remember that a friend’s birthday is coming up and you need to buy a gift. What do you do? Immediately pick up your phone and put it in your calendar. Ameya unfortunately is unable to do so. So what do these kids do? They turn to that one friend who is always there, always ready to help, and most importantly is at their beck and call. Literally. All they need to do is just say ‘Alexa, remind me to buy a gift for a friend’.

For both Amogh and Ameya it is now second nature to just call out and get things done. ‘Alexa, switch off the reading light’, ‘Alexa, on what date is Good Friday this year?’.

Above and beyond these daily tasks are the functions that make life that much simpler for these kids. DMD means they have to take their medicines on time and maintain a strictly timed physiotherapy session. With Alexa by their side they do not depend on their parents anymore. Alexa maintains the schedule and alerts them when it is a time to take tells them what medicine to take at what time.

DART, who have that has been encouraging their patients to use technology and helping them adapt to it, have has also pioneered certain tasks which are specially designed for DMD patients. For example, a physiotherapy session has particular moves certain movements to be carried out in a particular order. Each position has to be held for a certain specific amount of time, and the progress of the patient is monitored. on how well these moves are carried out.

DART has designed a special task whereby the physiotherapy moves are called out, and a timer is run with some soothing music in the background. There is an automatic countdown and it then lines up the next move. All a child needs to do is say ‘Alexa, start my physiotherapy session’, and he needs to follow the instructions to complete the much required workout.

This has brought so much relief to the caregivers, the  families who now no longer have to carefully remember the order or keep track of multiple devices. This also means that they can share duties and even have a new person come in and just supervise a session without having to worry about it being carried out. Let’s say an aunt steps in to help, all she has to do is just ask Alexa to call out the instructions.

Where Alexa truly lives up to its name, is its role in disseminating knowledge. Just like the library of Alexandria after which it is named, the device is a go to treasure trove of information. Now the kids do not need to ask their parents for the meaning of a word in the book they are reading, or if they are suddenly interested in knowing who was the last pharaoh of Egypt or what animal lives on Mt. Everest. All they need to do is to call out to their friend Alexa.

Btw it’s Tutankhamun and Snow Leopards.

Berty Ashley is a Molecular Geneticist at the Dystrophy Annihilation Research Trust. When not tinkering with genes, he is either doing quizzes or listening to music. He lives in Bangalore surrounded by books, vinyls and multiple types of coffee.