Our SMA Community

"Life: It is about the gift not the package it comes in." – Dennis P. Costea, Jr.

Giving birth to a new life is an amazing experience. It is the beginning of a great adventure full of surprises and twists and brings a great responsibility. He has become the center of our very existence.

We named him 'Pratyush', meaning early morning sunlight. Time flies and soon he was a one year old. All his milestones have been normal. He started walking with support and we were waiting for that magical moment when he would take his first independent steps. Days became months and there were no signs of him being able to stand on his own. This made us worried and the first visit to the pediatrician began which slowly led us to more specialized doctors such as orthopedicians and neurologists. After a series of tests and a muscle biopsy came the devastating and shocking news that he is affected by the genetic disorder called "Spinal Muscular Atrophy". Our world came shattering down. We could only understand that he will be immobile for life. Doctors could not tell us either the prognosis of the disease or life expectancy of the child. The awareness levels even among the doctors was extremely low. There was no Google to search on or other parents with similar kids who could share their experiences.

Immediately after the diagnosis, my husband had to leave for a course for 3 months. This left me all alone with the little one which made me go into a deep depression with an aversion for life. I went to a point of attempting suicide and started looking for various means to end my life along with my son. But one small positive thought entered in the midst of all these and gradually grew into a big tree of positivity. As I started looking from the other side of the coin, I slowly understood that it need not be the end of life. It is going to be an uphill task full of challenges but not impossible. My husband and I discussed several issues and we slowly accepted that his condition cannot be changed and we need to concentrate on what he can do within his limited mobility. Following this, we decided that we will bring him up on par with all other kids and prove to the world that he can have a complete life despite all the physical restrictions and societal discrimination. And thus, we embarked on a mission to make Pratyush an independent and self-confident person.

Spinal muscular atrophy (SMA) is a genetic (inherited) neuromuscular disease and causes low muscle tone (hypotonia) and progressive muscle weakness and wasting (atrophy). All motor skills are affected by the disease, including walking, eating, and breathing. SMA has no known cure; thus, most care is focused on symptomatic control and preventative rehabilitation. Physiotherapy plays a significant role in the preventative rehabilitation approach helping the child improve and maintain mobility, and prevent or slow the progression of contractures and respiratory failure. He underwent regular physiotherapy and continues till date.

The society we live in is unfortunately very unfair to differently abled with several superstitions about them. They are generally looked upon as objects of sympathy and pity with a lack of awareness and empathy. Having a positive attitude and constantly facing the social stigma requires a lot of courage and will power.

At the age of 4, I was advised by the physiotherapist that Pratyush is gaining weight and I need to put him on a diet. I was shocked and surprised as I did not understand the relevance of maintaining adequate nutrition to prevent obesity and the accompanying health risks in such a small kid. Subsequently, I understood the importance and cut down on all fatty food and increased the protein intake. A delicate balance needs to be struck between calories, fat, protein, and carbohydrate intake. I follow this strictly even today.

Scoliosis was another new term introduced to us around the age of 7 to 8 years. As muscle weakness progresses in the back muscles while the child continues to grow, gravity pulls down on the spine and curves develop, causing scoliosis. There is a correlation between scoliosis severity and lung capacity. Not controlling this can lead to severe respiratory dysfunction. We initially used a brace to support the back but it did not prevent the further increase of curvature. He underwent a surgery at the age of 10, when Cobb's angle reached 59 degrees to preserve pulmonary function, comfort, appearance, and overall quality of life. It was a 12-hour long surgery conducted at Lilavati Hospital by Dr Ashok Johari. With God's grace, everything went off very smoothly and he got discharged in a week and recovered soon.

Admissions to normal schools was a Herculean task as school authorities would demotivate and instead advise us to admit him in special schools. My husband's regular transfers added to our woes. With great difficulty, we would get him admitted to a school and within a few years, we had to change his school because of a transfer. None of the schools were disabled friendly and we had to face both structural and attitudinal barriers. Well educated teachers are no different from uneducated people and we confronted many bitter experiences in different schools across India.

As a young child, Pratyush was always delighted to see a computer. This made us enroll him in computer courses as early as 5 years of age. He took like a fish to water. Then he joined an NIIT course at 7 years of age where he learned SQL and Java. Observing his progress, we enrolled him for Microsoft certification courses. He successfully completed them and became the youngest Microsoft Certified Solution Developer (MCSD) in the world at the age of 9 years. In the following summer, he did a one month internship at a software company called Mastek. As academic pressures increased, he shifted his focus to school wherein he constantly excelled in academic and extracurricular activities. His hard work, focus, and dedication with continued perseverance brought him a lot of awards and recognition at the national and international level. People started looking beyond his disability and regarded him on par with normal students. Today he is doing his Master's in Computer Science from Columbia University after finishing his undergraduate study in Computer Science and Engineering from IIT Bombay. He has evolved into a young, cheerful, confident, and empathetic person.

Genetic disorders impact not only the physical health, but also the psychological and social well-being of the kids and their families. We lived one day at a time, concentrating on the present and not dwelling in the past or worrying too much about the future. If there's one thing I have learned in this journey, it is to fight for what's right and what I believe in. When we can’t change the circumstances, we need to adapt to the situation in the best possible way and keep moving forward. We hope that the new drug, 'Nusinersen', which is awaiting FDA approval, will be a boon to us and significantly improve the quality of his life. At the end, I would like to say anyone who loses all hope and think this is the end should understand that it is just a bend, not the end and have faith in God.

"My child is not a statistic, not a number, not a diagnosis, but a person with different abilities taking on a difficult world. He proves every day that he’s a miracle and that he will never give up. I am his voice and he is my heart."

Diagnosis of our son Aarav changed the course of our lives. Aarav suffers from a neuro-muscular disease - SMA (Spinal Muscular Atrophy) Type 2. Due to this, he cannot walk. Our nightmare does not end there, SMA is a progressive degenerative disease which means Aarav may potentially see deterioration in function of his other limbs - hands, spines and even lungs.

The diagnosis itself was a tough one, as SMA is a rare genetic disease , even doctors in India are not fully knowlegdeable about this. We went through a battery of test, trying to determine what it was exactly that aarav was suffering from.To our utter distress Aarav was diagnosed with Spinal Muscular Atrophy. After that some days were so hard that we did not know if we can carry on. We felt broken by life, alone and defeated.

Till that time we had never heard this dreaded term SMA, it led us to do extensive internet search about Spinal Muscular Atrophy. My Brother Amitabh, gave us the ray of hope by telling us about curesma.org, it was quite encouraging to see that there was clinical trial going on in USA. We decided to attend the 2014 Cure SMA conference in Washington DC. The conference was quite enlightening and informative. We realized the need to have such dedicated organization in India. So after coming back to India we started searching aggressively for other families like us. After two years of constant searching we were able to locate around 10 families which gradually grew up to become 50 families. We started with a small support group and today we have grown up as an organization offering free confidential information, emotional support, practical advice and guidance to anyone affected with Spinal Muscular Atrophy.

There is a drug that is under development and now in final stages of FDA approval which has shown very promising results. We have been very excited to see that this miracle drug (Nusinersen) has even reversed some of the deterioration in SMA patients. I have even started daring to dream that my son Aarav can start walking one day - as I have seen kids like him starting to walk after getting this drug in clinical trials. My message to anyone reading this post is, "You will survive, the difficult times will pass, the wheel will turn and you will laugh again."

I am Moumita Ghosh and my husband Debashish Ghosh from Kolkata. Our daughter, Debosmita was 18 months old when she stopped crawling around. We took her to the paediatrician. MRI, EMG, NCV, GENETIC TESTS confirmed a condition SPINAL MUSCULAR ATROPHY, TYPE II. A condition affecting the motor nerves that control muscular function. SMA impedes activities such as crawling, standing, walking, breathing, eating and other fine motor activities such as writing, holding, pulling etc. SMA children lack sufficient amount of a protein that maintain function, and the nerves cannot carry signals from brain to muscle. That in turn causes muscle weakness and decreased muscle mass (atrophy). This causes muscle hypotonia. Child’s mobility is restricted.

It was overwhelming to learn about her diagnosis and understanding its impact on her life. At six years of age, my daughter has 75% locomotor disability, associated with bilateral hip dislocation, more than 30 degree scoliosis, contracture in both arms and foot. She has weak lungs and gastric muscles. She cannot sit or stand on her own. She walks with extreme difficulty with reverse walker which has no functional value. Due to restricted mobility she has developed severe osteoporosis. When she was five years old, we bought first wheelchair for her. It was a devastating moment for us.

We were totally clueless how to deal as she grows up. I was in constant search of parents who are facing similar situation. I found a facebook page, Spinal Muscular Atrophy India. Under compassionate guidance of Mrs Alpana Sharma, whose 4 year old son is SMA Type 2, I came to know about few other Indian families who are fighting same battle. Sharing experiences and information helped us to take better care of our daughter. Encouraging and supporting each other has lead to the formation of this trust with the goal to avail most promising drug that will improve quality of life of our children in India.

I must mention Dr. Ann Agnes Mathew, Neuromuscular specialist, whose guidance has helped my daughter to survive better. This is our story of courage, determination and faith.

We always believe that INCURABLE means "Curable from Within".

Our life was very smooth till Garvit was 8 months old. I was running an MBA college. We stayed in a posh Area of East Delhi. My daughter was studying in the best school of East Delhi. We started getting concerned when Garvit did not sit by the age of 6 months. We as well as doctors said, "it is a delayed milestone". We waited for another 1-2 months and then after a series of tests, we got a shocking news that Garvit was suffering from a non-curable disease called SMA and then a test confirmed that it was SMA Type-2B. Life took a sudden jerk and we started with physiotherapy, the only hope. We got so depressed that I left my college and sat at home. Our daughter started getting ignored because we were depressed parents at that time. After this yearlong and suppressive struggle with self, we ourselves healed our depressed minds.

After sitting at home for a year, I started working as a part-time faculty to run our bread and butter. We admitted Garvit to a play school and he went there for 3 years. However, his admission to the school as well as taking him to school were major challenges that we faced. Many people thought that we were wasting our time and life with Garvit. We were also advised to leave him and have a third baby. Also there were very few people who spoke to us. We Faced multiple issues from relatives, neighbours and from society. There have been a lot of adverse circumstances, but there was only one thing that has lead us to devote our life to Garvit - that was his smile and love for us.

The journey with doctors also has also not been great. We tried Ayurvedic and Yunani medicines over years. But nothing had worked, we only feel that medicines of Ayush Samiti Bhillai has helped Garvit to some extent. I now feel that parents who feel their child are the best doctors.

We have also pleaded to God and have put a lot of strength and energy there, don't even know that whether our applications have reached him or not. We have done years of worship and all possible types of worship. On the other hand, I have learnt a lot from this WhatsApp group. Today we are so many families who are together, who also understand each other emotionally and medically and we will all fight together.

Over the years this problem has broken us emotionally and financially. But, we also realise that we have learnt a lot of lessons of life and also that we have developed high quality thoughts for life. Also I feel that he will be perfectly alright one day and also the day is not far enough. We are keeping him active all the day and we shall win.

"Disease cannot live in body that's in a healthy emotional state"