Raising Awareness for a Rare Disease

I remember the evening like it was last night. My wife and I were newly dating and out to eat at a popular burger place in Astoria. After taking a bite of the burger, she looked at me, my eyes both panicking and filling up with water, and said, “What’s wrong?” What was wrong was that the bite of food I just took was stuck and I didn’t know what to do. I was choking on my food.

That was the very beginning of a long journey with an unknown sickness that nearly cost me my life. Food getting stuck in my esophagus started to happen more frequently as the days went on. I began to find ways to get it down using liquids or only eating at certain times of the day when I seemed to struggle a little less. I simultaneously had to learn how to vomit out undigested food in case I wasn’t able to push it down. This also began to be a more frequent occurrence as time went on. What started out as what I thought was an isolated incident at a burger place, started to completely take over my life. I could no longer swallow food as a normal person does.

During this time, I visited a walk-in clinic in Jackson Heights and another in one Elmhurst. I sat with medical professionals and explained to them these strange symptoms I was having that seemed to be progressing each day. Both suggested that it may be acid reflux or swallowing issues that were being caused by stress or anxiety. I left both offices with no clear answers or even leads to someone else that may know.

My swallowing issues literally began to control my life. As the disease progressed over a few years, I gradually became less able to swallow food. I even started to not be able to swallow liquids at certain points of the day. Nearly everything I ate and drank would feel like it was piling up in my chest causing this extreme pressure. I would have to make my way to the nearest bathroom to heave it out. I was no longer able to enjoy food and my eating in public was very limited. Thanksgiving, Christmas, and any family gatherings were miserable for me. At the same time, I started losing weight by the day until I reached a weight where I could no longer function normally.

The person staring back at me in the mirror was slowly dying by way of starvation.

My wife and I had since moved to Long Island, back to where I grew up. We started looking for gastroenterologists close by that could possibly provide us with some answers. We visited Brookhaven Gastro and initially ended up seeing a nurse practitioner there who suggested that the doctor perform an endoscopy. By this time, I had been struggling with this unknown sickness for seven years.

I remember waking up from the endoscopy and hearing, “So I have good news and bad news. The bad news is that you seem to have Achalasia. The good news is that there is a surgery that can help you pass food into your stomach again. We don’t perform this surgery here though; you’ll have to visit a specialist at Stony Brook.”

I walked into Dr. D’Souza’s office in Stony Brook bone-thin and severely dehydrated. At this point in the disease, I was barely able to swallow liquids. I was spending most of the day in bed because I didn’t have the energy for anything else. Dr D’Souza expressed that I was in the worst condition that he’s ever seen any patient from the effects of Achalasia. He put a rush on a few different tests that needed to be done to ensure that it was indeed this rare disease. He helped my wife get clearance from our insurance company for each test because my condition was extremely dire and definitely time sensitive.

In 2018, I received a relatively new, three-hour long surgery that ended up saving my life. Dr. D’Souza performed the POEM (Peroral endoscopic myotomy) surgery in the operating room at Stony Brook Hospital. The surgery was successful in opening up the bottom sphincter muscle of my esophagus which allowed food to pass through again. While the disease has destroyed all of the paralysis in my esophagus and taken my ability to swallow normally, opening up this bottom muscle has allowed food to pass simply by way of simple gravity. I still remember lying in my hospital bed and everyone watching me take that first sip of cold water after surgery. Thankful would be a vast understatement.

Achalasia is a chronic and incurable disease which the medical world still doesn’t know the cause of. It affects roughly 8-12 people out of 100,000. Some studies suggest it’s auto immune related, while others feel that genetics may play a crucial part. With Achalasia, something causes your body to basically turn on itself, specifically your esophagus. The nerves in your esophagus begin to misfire and die which slowly leaves you without the ability to swallow. In most cases, it’s progressive and often misdiagnosed as a more common ailment. To this day, I’ve been to doctors who still haven’t heard of it.

Telling people about Achalasia and rare diseases like it is extremely important. There are people suffering in silence like I was with no clear answers or paths to regaining some sense of normalcy. Since being rightly diagnosed and outspoken about this disease, I have had the great blessing of sending a handful of other patients to Dr. D’Souza who has been able to help them as well.