Aditya (28 years) is a software engineer who loved running marathons and indulging in a good biryani from time to time. He noticed a gradual decrease in energy and realized he wasn’t able to run as much as he used to. A bigger concern was his gradual but certain unintended weight loss that put him at a BMI of 15. He had also started to develop rashes on his skin. Several tests and visits to multiple doctors gave no information about his condition — and he decided to get a Genomepatri as a last resort.
During his genetic counselling appointment, we discussed an important revelation from his Genomepatri — his significantly high genetic risk for Crohn’s Disease.
What is Crohn’s Disease?
Crohn’s Disease is a chronic inflammatory bowel disease in which parts of the digestive system swell up and may develop ulcers. Typical symptoms include abdominal pain and diarrhoea. There may also be mouth ulcers, blood in stools and anal fissures. Since Crohn’s Disease involves the immune system, it is not uncommon for patients to experience eye problems, joint pain, skin rashes and liver issues.
Crohn’s Disease is typically suspected in individuals with abdominal tenderness/pain, diarrhoea with or without bleeding, and anal diseases such as fissures. Oftentimes it goes undiagnosed for several years as symptoms develop gradually.
Aditya’s Story
Aditya’s genetic risk for Crohn’s Disease was about 2 times that of the average population. During his genetic counselling appointment, it was recommended that he do the tests that would help confirm the diagnosis. He shared that he had results from all of these tests — but no one was able to connect the dots:
He had anaemia
Colonoscopy indicated inflammation
He had mouth ulcers and diarrhoea each time he ate Biryani
He recently lost a lot of weight following a viral infection
Based on his clinical symptoms and test results, we recommended dietary modification, smoking cessation, and regular exercise. Aditya was happy to report that these were the exact changes he had already made — and had begun to see improvements. On being asked if he thought it was good news or bad news to get his Genomepatri results, his response was:
“I see this as good news. Most people don’t want to be told they have a lifelong disease, but for me, it is the greatest news because I possibly have a diagnosis. Finally! Only if I have a diagnosis can I know for sure what to do about it. This diagnosis will tell me what to eat, what to avoid, and how to improve my overall health. This is the diagnosis I have been waiting for over 3 years.”
Aditya plans to follow up with a gastroenterologist, do screening tests regularly and play an active role to maximise his periods of remission and minimise flare-ups. Crohn’s Disease no longer controls his life — because he is now in control of his choices.
Know Your Genetic Risk for Crohn’s and Inflammatory Bowel Disease
Genomepatri by MapmyGenome screens your genetic predisposition to Crohn’s Disease, IBD, and 100+ other conditions — helping you connect the dots before symptoms become a diagnosis.
