The symptoms were subtle at first. In the throes of a wailing baby, my grandmother swore, “there’s something wrong with this child.” As I rejected my baby formula and suffered a random joint dislocation while learning to walk, we never imagined I would eventually be diagnosed with a rare genetic condition. None of us were aware of Ehlers Danlos Syndrome or compound TTC7A mutations. Genetic conditions can manifest at any time in life. I did not receive my genetic diagnoses until ages 14 and 23 when my symptoms rapidly progressed. However, pursuing whole-exome sequencing sooner would have simplified my diagnostic journey significantly had I not had to wait for a doctor to finally suggest genetic testing. And honestly, looking back, I did not know exactly what I was waiting for. I believed in the misconception that a genetic illness would be blatantly obvious from birth. So, in my mind, I couldn’t possibly have a genetic condition at the root of the various maladies I had collected over the years (i.e. GERD, IBS, POTS, fibromyalgia, gastroparesis, a mast cell disorder, etc.). Boy, was I wrong! About Probably Genetic Anyone with a chronic illness without an established cause would be wise to consider whole exome sequencing. A good resource to do so is Probably Genetic—a company that provides DNA tests to diagnose rare genetic conditions where patients can initiate the whole-exome sequencing with the input of a physician who is part of an independent clinician network. The team at Probably Genetic consists of PhDs and Rhodes Scholars from the Universities of Oxford and Cambridge, specializing in genetics and artificial intelligence. They understand it typically takes decades after the onset of the first symptoms for patients to get diagnosed. Patients cycle through numerous specialists and are often first diagnosed with more common conditions such as fibromyalgia, dysautonomia, Lupus, auto-immune diseases, or chronic pain, before receiving a more refined diagnosis. About the Test Probably Genetic does a so-called ‘whole exome sequencing’ test, which sequences all 25,000 genes in the human body. You can request a test on their website and receive results within 8 weeks after you collect the sample at home. You can get started for $29 to have a physician review your information and order your test. Their lab is CLIA-certified and CAP-accredited and you will get a genetic counseling session in addition to your result report. Importantly, this is a clinical test designed to test if a patient’s symptoms are caused by genetics. Infotainment tests like 23andMe or AncestryHealth cannot provide diagnostic results. Take the Probably Genetic SURVEY A team of researchers at Probably Genetic is working tirelessly to get undiagnosed chronic disease patients diagnostic answers faster. They are running a 1-minute survey in our community to understand the diagnostic journey of our families better. All participants get $400 off their clinical genetic test, redeemable by anyone in need. The survey will not take long, nor does it require lengthy personal information. It only asks: Who is the survey for? Which diagnoses did you receive? Have you had genetic testing in the past? Have you ever had a conversation with a doctor or a genetic counselor about genetic testing regarding the symptoms and diagnoses? Would you be interested in whole exome sequencing? You can find the survey here. If you have any questions, feel free to reach out to their CEO Lukas Lange via firstname.lastname@example.org. The Benefits As I’ve stated before, the diagnostic process when suffering from a rare chronic illness is long and arduous. Patients collect vague diagnoses like “chronic fatigue syndrome” to justify fatigue, “irritable bowel syndrome” as a reason for gastrointestinal distress, or “fibromyalgia” to explain chronic pain. These labels don’t provide clear answers and necessitate unsuccessful treatment. Rarely does somebody have just “chronic fatigue syndrome” or just “fibromyalgia”–even more specific diagnoses such as dysautonomia or gastroparesis have a deeper, underlying cause. The Whole exome sequencing offered by Probably Genetic provides the potential to locate that underlying cause for the symptoms, which is undoubtedly valuable to direct appropriate therapies. Please take the Probably Genetic survey.