Orchid offers advanced genetic testing for couples who want their child to have the best shot of a healthy life. “Patient and Family Stories” is where we highlight individuals living with the chronic conditions Orchid screens for and their perspectives on genetic screening.

Article Highlights

• Hindsight being 20/20, I wish I could have realized that what I thought was “normal” was, indeed, not normal. IBD can be a serious autoimmune disorder that requires medical attention and proper diagnosis and treatment. Even though there is no cure for IBD, working with physicians to manage my crohn’s disease before things got bad enough to require surgery and lifelong medication may have led to a less severe outcome.
• I wish I had known I was going to get Crohn’s disease, or at least realized earlier in the course of the disease what was happening. I would have liked to have something that told me, “Watch out for these signs, they may indicate developing IBD.” ‍
• Future patients and prospective parents should have access to the information I didn’t to avoid the worst of what I and millions of others have experienced. For me, my condition is not something that’s going away, and it will probably never be completely avoidable to patients of the future. But I’m hopeful of the future to give people a better chance at detecting and avoiding IBD earlier.

IBD is made up of two autoimmune disorders that affect the digestive system, Crohn’s disease (CD) and ulcerative colitis (UC). As autoimmune disorders, the body’s immune system attacks its own cells instead of its usual job of fighting pathogen invaders. IBD is estimated to affect 1.3% of people in the US, with a little more than half of those cases categorized as UC. I’m one of that unlucky 1.3%, living with Crohn’s disease.

“Oh, that’s what it was…” : From diagnosis to remission.

As far as Crohn’s disease goes, though, I feel pretty lucky. Many IBD patients struggle for years with bowel pain, frequent bathroom trips, diarrhea, bloody stool, and/or fatigue, before finding a treatment plan that provides some amount of relief. Even with an effective treatment, symptoms may not completely go away, and occasional flare-ups can bring everything crashing back down again. My case has turned out to be pretty simple. I was OK, then I wasn’t, now I’m OK again.

First signs of symptoms

For years– I can’t even remember how far back– I would experience a day or half-day of intestinal cramping, often with diarrhea, every month or two. I’d attribute it to eating something particularly unwise, totally my own fault. (Spoiler alert: I was wrong.)

Things chugged along like this for a while, seemingly OK, no real complaints. But in 2019, I had one bout of really bad gastroenteritis, and things changed. Shortly after recovering from that, I developed a urinary tract infection that would. not. go. away. It was apparent to me that those incidents were connected, but I didn’t know how or just how serious things really were.

Diagnostic odyssey

After months of trying different treatments, all eventually failing, my care team finally found what was causing those UTIs. A bit of my large intestine had rubbed up against my bladder in such a way as to cause a small hole to appear, connecting them. This fistula let bacteria jump easily from my gut into my bladder. Good news: it was totally repairable with surgery; bad news: something was causing my intestine to get a bit too friendly with my other organs.

The surgery to repair everything went fine, but looking at the piece of bowel that was removed confirmed to the doctors what was the most likely cause– inflammation due to Crohn’s disease.

Even though my GI issues to this point had been relatively mild, fistulizing CD is absolutely no joke. With such serious complications and a fistula recurrence estimated in around one-third of patients, and a second bowel resection being needed in around 50% of patients, we didn’t have time to see which treatments work and which don’t. We needed to skip ahead to a plan that makes sure this doesn’t happen again.

Treatment and remission

I was started on a biologic therapeutic, a biweekly injection of antibodies designed to dampen the immune response contributing to the uncontrolled inflammation of CD. It seems to be working beautifully so far. I’ve honestly never felt better, oddly. After achieving this level of remission, I’ve been able to look back at those symptoms pre-diagnosis and realize, “Oh, that’s what it was…” Hindsight being 20/20 and all, I wish I could have realized that what I thought was normal was, indeed, not normal.

For every patient, a unique story

If you talk with fifty IBD patients, you’ll hear about fifty different ways it can appear. Age of onset, symptoms, what diets help or hurt, which medications seem to work– everyone’s condition is unique. That is simply reflective of how diverse and complicated the causes of the disease are.

IBD lies at the intersection of several major body systems: the immune system, the organs of the digestive system, and the gut microbiome (the trillions of bacteria and viruses living inside your intestines helping to digest your food). All three are important for maintaining a healthy GI tract, working together and functioning in balance. Throwing off this balance can lead to a cascading disruption of normal processes and, eventually, disease.

Each of the body systems involved in IBD runs on the instructions encoded by a person’s DNA. Just as each person has a unique genome sequence ever so slightly different from anyone else, their body systems work ever so slightly differently, too. A combination of these unique genetic factors and a person’s environment– things like foods eaten, toxin exposure, stress, disease history, and pretty much everything else in life not genetics– determine an individual’s predisposition to IBD and their symptoms, totally unique to that person.

Genetic factors at play

As a genetics researcher, I often look at health problems at the cellular level as deterministic. “In this group of cells in this Petri dish, a mutation here in the genome causes the cells to behave like this.” The reality of IBD is really very far from that. It’s been a challenge for me to think differently about IBD, with its highly diverse presentation among patients and its various causes.

There definitely is a genetic component to IBD, but it is far from deterministic. There isn’t one mutated gene that’s responsible for IBD, like in cystic fibrosis, for example (except in rare cases of childhood-onset IBD). Instead, many genes and many parts of the genome work together to cause IBD, making it difficult to tell if someone is more likely to develop IBD or not.

As personalized medicine and personalized genomics become more integrated into the healthcare system, we will begin to more effectively identify people at higher risk for IBD based on their genetic profile. We’ve started to be able to measure the genetic component of IBD, and the continual advances in genomic medicine give me hope that we’ll find more predictive factors and give people a better chance at detecting and avoiding IBD earlier.

Reflecting on the past

I wish I had known I was going to get Crohn’s disease, or at least realized earlier in the course of the disease what was happening. I had no family history of autoimmune disorders and the only symptoms were mild (well, until they weren’t). I would have liked to have something that told me, “Watch out for these signs, they may indicate developing IBD.” Even though there is no cure for IBD, working with physicians to manage my CD before things got bad enough to require surgery and lifelong medication may have led to a less severe outcome.

Genetic screening may fit that role for many people, and I’m sure it will become an even more effective tool as scientists identify more genetic factors related to IBD. Knowing if I was at greater risk for IBD may have at least clued me into the fact that what I was experiencing wasn’t normal and should have been taken more seriously.

Looking towards the future

My genetics is my genetics, and that’s not something I can change or avoid (for the foreseeable future, at least… looking at you, CRISPR). I’m living with IBD because of countless factors out of my control. With diligent management, I’ve so far been fortunate enough to have well-controlled disease with little ongoing effect on how I live my life.

We are entering an age where one’s genetic makeup isn’t simply a roll of the dice anymore. Direct-to-consumer genetic tests for an ever-growing array of disease-causing and risk-elevating DNA variants give the public ownership of their own DNA and insights into risk variants they may have. Armed with this information, patients can better understand their own genetic predispositions to disease, and future parents can better understand the risks they may be passing on to their children.

Commercial services available now, like Orchid’s Embryo Report, have given rise to a new approach to these genetic predispositions– from a passive strategy, simply quantifying a person’s risk and being aware of the potential, to an active strategy, selecting IVF embryos to mitigate health risks to future children. Although not yet a routine path for prospective parents, I imagine that this will one day be common, akin to today’s carrier screening for Tay-Sachs disease or thalassemia. If there is a simple test that can help parents have a healthy child, I can’t imagine a world where it isn’t quickly and widely adopted.

For me, my condition is not something that’s going away, and it will probably never be completely avoidable to patients of the future. But hopefully, future patients and prospective parents will have access to the information I didn’t and can avoid the worst of what I and millions of others have experienced.

Orchid offers advanced genetic testing for couples planning on building their family. We use advanced tools and smart, caring humans to help you give your future children the best shot of a healthy life. Conceive with greater confidence and peace of mind