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Submitted by PatientsEngage on 15 August 2019

Priti Shetty, 33 from Mumbai was diagnosed with type III Spinal Muscular Atrophy at age 2 and is a strong proponent of using whatever skills and intellect you have to learn all about your condition and achieve your dreams.

Please tell us a bit about your condition

I have type III Spinal Muscular Atrophy or SMA. SMA is a genetic disease that causes loss of voluntary muscle movement as the motor nerves get affected. Type III is also known as Kugelberg-Welander disease.

What were the early symptoms? What made you go see a doctor?

Till age 2, everything was normal. Then, my parents started noticing that I was unable to run as fast as the other kids, climb stairs on my own and would slip often on water. They decided to take me to a Specialist who did a few tests like EMG and diagnosed it as Type 3 SMA. I had a younger brother who was only a month old at the time and he too got tested right away. He was also found to have SMA but type 2. He was much weaker than me, in fact he never walked.

Post-diagnosis, physiotherapy started immediately. It continued till about age 9 when it became financially difficult.

4.   Please describe your experience of managing your condition.

I was able to walk on my own till age 4 and then with assistive support, till age 7. I used to have a leg brace to support my knees while walking. Then, I had two consecutive falls injuring my ankle at age 7 after which I never walked again.

At home, my mom does my daily bathing, and dressing ritual. There is a household help for my brother for the same. Feeding was easier till 2 years ago. If the food is liquid, it is more difficult to eat because I am unable to lift the spoon repeatedly or hold the spoon for long. Solid foods are easier.

I work from home and only leave home if I absolutely have to. I work full-time for my Brother’s Finance firm as the Marketing head. My background is a Commerce degree with a major in International Business. I also run a food truck and am very active on social media.

Have you had any related complications from your primary condition?

Yes several as all muscles of the body are affected. For me these were:

  • Respiratory Infections: I was diagnosed with asthma as a child and would frequent the hospital with asthmatic attacks. When I was 7, I started singing and vocal lessons truly helped strengthen my chest muscles. Since people with SMA are prone to respiratory infections, singing made my asthma better and lowered my infection risks. I haven’t had a cold in the past 2 years.

    Certain foods items especially sour foods such as lemons, tamarind, citrus, cucumber, tomatoes etc. cause discomfort in my throat. It moves on to a sore throat and then a cold with cough. For me, it takes much longer than a normal person to recover. Due to weak chest muscles, it is not easy to cough out the mucus. I then end up having to use the nebulizer, the oxygen machine, mucolytics, steam the works. My brother sadly has a daily cough because his one lung has collapsed.
     

  • Scoliosis: It first started at age 13. I couldn’t sit straight and found myself putting my body pressure on the right side. The doctor told me that my spine was curving in to a C-shape due to Scoliosis. He suggested trying a back brace but warned me against becoming too dependent on it. Also once the body gets used to a brace, muscles will slowly fail to do their job. I tried the brace for about a week and then stopped. The brace was helpful, but also painful and caused friction to the skin.
     
  • Weight Gain: This is a huge problem. Both my brother and I fall into the obese category. At age 10, I was 40 kilos and was put on a diet which helped me lose weight. Since the past 10 years, the weight has gradually crept back up. Even if I don’t eat a lot, I continue to gain weight.
     
  • Back Pain: This is a pain possibly from the SMA itself or the scoliosis. My Orthopedic has suggested that through the day, I take frequent breaks from the wheel chair and lie down periodically. The pain is also triggered by commuting on uneven roads. If I have to go out anywhere, I do end up using a mild painkiller.
     
  • Irregular Periods: I have consulted many Gynecologists but none have been able to provide an explanation as to why my periods are irregular. I have tried hormones but cannot keep taking them all my life.

What kind of specialists do you consult and how often?

Currently, there is no Physiotherapy going on. I’m so busy working that I just don’t find the time. So I continue doing the movements that I can on my own.

What changes have you made to your lifestyle because of your condition?

In order to ease movement and quality of life at home, we have over the years made several modifications. We have hospital beds, automatic lifting hoist, battery-driven wheel chairs, voice recognition systems for lights & fans, accessible transport vans, modified bathrooms with toilet chair. All of these modifications are pricey and my brother and I have realized that for a comfortable life, we need to also earn a living. I am a workaholic in the true sense. Days when I am unable to work for any reason, seem very unproductive and depressing.

Have you tried complementary medicine or therapies, like homeopathy or yoga? If yes, did it help?

My parents went to numerous doctors to seek advice. They were keen to try all sorts of alternative treatments including Homeopathy, Acupuncture, Ayurveda, Naturopathy etc. It all stopped after I turned 18 because nothing was helping.

How did you mentally/emotionally cope with your condition? How has your family supported you?

My parents have given me and my brother a lot of confidence. We never got any special treatment or mollycoddling. We were both sent to regular schools and colleges. I feel that we are capable of so much more today because of the mental strength instilled by my parents.

How did your friends treat you? How is your social life?

I have been blessed with amazing friends, they are my 2nd lifeline. My brother and I have made it through because of good people around us. In college, my friends would push my manual wheelchair from home to college every day and even all the way to a mall once to watch a movie. We didn’t have a car then. We still hang out very often, go out to eat etc.

When I had got a computer in 12th grade, it opened up a whole new world for me. I could sit at home and meet the world. I remember chatting with strangers on messenger and making new friends. I have no problems interacting with the opposite gender. I had a relationship in the past and am on a few dating apps. If I find the right companion, I don’t mind getting married. My parents are old-fashioned so they don’t think of it as a possibility.

What were some of the challenges you faced?

My biggest hurdle was the time after graduation till I found my first job. I was good at singing and wanted to launch my singing career. So I would go for various auditions, but the studios were never wheelchair friendly. I would be unable to enter the studios so they would offer to lift me up. I am very uncomfortable with strangers lifting me especially because they don’t know how to lift you properly and can also touch you inappropriately at times. Eventually, I gave up on that dream and started looking for a job in my academic field. In those days, HRs of most companies just did not understand what I had. Tata and Accenture were the only two companies that treated me equally and with respect. I worked with both of them.

What is your advice to other people with SMA?

Being in this condition is not easy, but maintaining it is possible. Our strength is our brain which works perfectly fine like any other able-bodied. So utilize it to your benefit, be educated and always be aware. Ignorance is not bliss in our condition.

What keeps you awake at night?

I am a positive person with an extrovert personality. I do have trouble sleeping. I usually get about 6 hours of sleep. This is since my college days. I do have an overactive mind, so I’m always thinking about my work and am online till 3 am.