What Boldness Means to Me

Raghavendran Srikanthan, José Vadi

Feb 17, 2022 • 4 min read

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Blog post originally written by the AllStripes community team. AllStripes was acquired by PicnicHealth in 2023.

When Raghavendran Srikanthan, who goes by Raghav, was preparing to enter university and pursue a degree in computer science, his body began saying No. He experienced shortness of breath when he started to run and a growing weakness in the muscles of his lower body. He was diagnosed with muscular dystrophy and lived with this knowledge for years, before circling back on an old note from a doctor recommending genetic testing. That’s when, in 2019, Raghav was diagnosed with Leigh syndrome, a rare disease that leads to a progressive loss of mental and movement abilities and eventually, vision, kidney, heart and respiratory complications. Raghavendran’s case is particularly unique given that Leigh syndrome typically presents during infancy or early childhood.

Based in South India, Raghavendran spoke with us about how he discovered allies through the Cure Mito Foundation, who are partnering with AllStripes to advance research around this rare disease.

In 2005, I was 18 years old and finishing my last years of what you would call high school, before going to university. My dad actually noticed I was finding it very difficult to climb stairs. I couldn’t walk fast or climb the stairs quickly. These were the first symptoms, like muscle weakness. If I hit some stone or pit in the ground, I used to fall down and needed a lot of help getting up.

My parents took me to a neurologist and they ran some blood tests. They did a CPK (creatine phosphokinase) blood test. That level should be in a specific range and we were out of that range. We also did EMG (electromyography) tests, measuring nerve and muscle function. My neuro function was very poor. They said I had muscular dystrophy, indicating weakness in muscles. He said, Take vitamins and do exercise, that’s the only remedy, at present there’s no medicine or cure. We didn’t know anything about genetic testing or therapies. There was no such knowledge.

After 2005, I started going to school as a "normal" kid, took vitamins and exercised. I didn’t care much about my health. I used to fall down, just like that. My friends used to help me. I found it difficult finishing school before going to college. I completed university with a degree in computer science. The health problem was progressive in nature, and it was progressing very slowly. My health was steadily getting worse, day by day.

From 2005 to 2007, I took some medications to treat symptoms. I did not see any improvement. I got really frustrated with the medicines so I stopped. I really wanted to avoid taking medicines and all the side effects that came along with certain treatments.

By the time I graduated a few years later, my health had totally deteriorated. I couldn’t even walk a few meters without support. My parents consulted another doctor about my progressive condition. He also confirmed that I had muscular dystrophy symptoms but he also referred us for genetic testing. I put it off for years but was always curious.

In 2019, I finally pursued genetic testing to try to figure out which gene was the problem. We did an exome sequencing test. I took the results to the doctors and he said that I had a problem in my SURF1 gene.

I started doing Google searches around the SURF1 gene, and I found the website that was then called CureSurf1.com. I wrote to their founder, Kasey Woleben, who started the foundation on behalf of her son, Will. Immediately, I sent all my medical reports to the founder and started to talk to her via email. I found that they were mainly working with children in that foundation who are severely affected, using G-tubes, some can’t speak.

Seeing so many kids, I thought, Okay, there are many impacted by rare diseases, many are affected by this. After 2019, knowing exactly which gene has a problem and joining that foundation (now called the Cure Mito Foundation), I started to know more about Leigh syndrome. This is a mitochondrial disease that affects our nervous system — but my condition is much less severe than many children’s conditions. Kasey let me know about the spectrum and variety of the conditions, and that I was on this spectrum.

I joined her Facebook group. One day I found AllStripes collecting data and doing research on how much people are affected and I registered. She asked me to become an Ambassador, and I agreed.

My advice to anyone with a rare disease is that we have the power to change ourselves according to the challenges we are facing. I used to speak to people in India and encourage them not to be afraid to get tested if they have symptoms. I’d say, “Be bold, take your genetic test and approach someone reliable and try and get some help.”

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Create a List

List the names of all the doctors, hospitals, and other facilities your loved one visits regularly, along with those they have visited in the past. Try to go back as far as you can, striving for at least the last 5-10 years, but do your best. Even if you can’t remember them all, having a strong baseline can help you quickly identify gaps in records.

Ensure You Have the Appropriate Legal Status

It is important to make sure that you are fully empowered to make decisions on behalf of your loved one with Alzheimer’s. Your relationship status with the patient may not be enough to legally give you access to your loved one's medical information. It is a good idea to talk to an expert about securing special legal status, such as Power of Attorney (POA), a legal document that allows an individual to name someone as their decision maker should they no longer be able to make decisions on their own.

Gather and Organize the Medical Records in One Place

It’s important to have all of your loved one’s medical records together in one spot. This makes it much easier for you and your loved one’s physicians to accurately map the patient’s medical journey and more easily share information between doctors. Fortunately, tools exist to make record management and access simple. A free resource like PicnicHealth helps you collect and organize all of this information. PicnicHealth’s intuitive timeline allows you to pinpoint data across the medical history, eliminating your need for keeping heavy binders filled with paper records or keeping track of multiple software portal logins.

Review the Medical Records to be an Informed Advocate

The better you understand your loved one's medical history, the better you can advocate on their behalf. Access and understanding of this information will help you to ask informed questions with physicians. Through regular communication backed by the data in the medical records, you can help your loved one’s care team develop a more successful care plan.

Together, we can make a difference.

1. Build a support network.

When you’re juggling appointment times and insurance claims, putting a robust support system together might not strike you as the most urgent task. Investing the time to cultivate relationships with people can turn to in times of need will pay dividends. The next time you need a last-minute ride or just someone to listen, you won’t be on your own.

There are many condition-specific support groups and support groups for caregivers generally in person or online. In addition to the encouragement and empathy they provide, support groups can be a helpful source of tips, resources, and recommendations for navigating caregiving.

2. Stay organized.

The backbone of effective caregiving is organization. Keep medical information, appointment schedules, and medication lists in order. Use a planner or a digital service like PicnicHealth to stay on top of your responsibilities. This attention to detail can prevent future complications and reduce day-to-day stress.

3. Explore treatments and clinical trials.

We’ve seen incredible breakthroughs in treatment over the past couple of years, powered by patients and their caregivers participating in research. Stay in the loop about the latest in medical advancements and available resources that could benefit your loved one. Whether it’s a new therapy option or a community service that aids independence, being informed can make a world of difference in the quality of care you provide.

4. Make time for self-care.

It may seem self-centered to focus on self-care—but when you feel good, you can be a better caregiver. Whether it’s exercise, a mindfulness practice, a soak in the bath, or just time to rest when you need it, carve out those moments in the day when you can unwind, reset, and stay healthy mentally and physically. Think of it as building up your reserves of kindness, patience, and understanding—which can only benefit your loved one. No one can pour from an empty cup.

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