grace

🚨Kate officially diagnosed with endometriosis > done without surgery > across three modalities: imaging, blood, and AI > all non-invasive > in 42 days For context, average time to diagnosis is 6.6 years. And, we found 2 other diagnoses at the same time. Over the past 6 weeks, we’ve sprinted to confirm or deny Kate’s suspected endometriosis. Endo is notoriously challenging to diagnose. It’s one of the most gnarly diseases and affects 15% of women. Men, to get you on the same page, having endo is akin to an alien growing in your guts and balls, self replicating, and glueing everything together. Causing you constant pain and discomfort. We got to work. > got an MRI > got a transvaginal ultrasound > both results came back negative At this point, Kate’s patient journey had followed the archetype precisely. Most women don’t get diagnosed for 7-10 years. For Kate, it’s been 7 years. And, like most women, her imaging came back clear even though now we know that she has endo. This is why diagnosis has traditionally happened via surgery. There has been no other way than to open her up and look inside. We wanted to avoid surgery so we went back to the drawing board. We searched the world over. On our second go, we did: > endo-specific ultrasound > an endo blood test > AI MRI > saliva test This was successful. We were able to confirm her endo via ultrasound, blood test, and MRI. Confirmed simultaneously by three unique modalities, as far as we know, a world-first approach. The extensive measurement allowed us to find additional things. Her ultrasound showed: > endometriosis > PMOS (formerly PCOS) (needs confirmation) > adenomyosis 30-40% of women have at least one of these conditions. That’s intimidating especially when the path to diagnosis is fraught with so many challenges. Phase I was getting a diagnosis. Phase II is curing endometriosis. We’ve already started working. If you’re a female with suspected endo, here’s what you can do to accelerate your diagnosis. — 1. Endo-Specific Ultrasound You want an endo-specific ultrasound. As we saw with Kate, a standard pelvic/transvaginal ultrasound failed to identify her endo. You want the ultrasound to be performed by a physician or sonographer specifically trained. They follow a special protocol to hunt for endometriosis by mapping the ovaries and uterus, and testing whether organs can slide freely, or are tethered by endometriosis lesions. It’s best timed just after ovulation, when a small amount of peritoneal fluid aids visualization. It can detect superficial endometriosis, lesions, and adenomyosis that general imaging misses. We went to Dr. Kacey Hamilton at Cedar Sinai. 2. AI MRI / MatricesAI Radiologists miss lesions in up to 60% of cases. We worked with @MatricesAI which leverages AI and a unique dataset to detect endometriosis lesions on pelvic MRI. This model is still new, its first pilot study with 200 participants began in April this year. Here is how you can work with them: They’re opening their diagnosis program at the Geneviève Institute to give early access to their AI model in a clinical trial. They will take you through a state-of-the-art clinical intake questionnaire. Help you advocate for your symptoms with your gynecologist, based on your intake or connect you to a new center where their AI is being piloted and the clinical trial conducted. 3. Blood test / HerResolve Kate had two small tubes of blood drawn for a test built by @Heranovalifesci. The test measures seven biological markers (three microRNAs, three proteins, and one hormone) and uses an AI model to help detect endo. It was highly accurate in its validation study at confirming endo and caught most cases that ultrasound and MRI had missed. Their technology has been validated in a peer reviewed study (298 women, 11 sites across US/Europe/Hong Kong, published in the Journal of Minimally Invasive Gynecology): specificity 97.5%, sensitivity 80%, with strong diagnostic performance (94.4%), demonstrating it was highly effective at distinguishing women with endometriosis from those without the disease. A positive result is a strong signal, since only 2.5% of women without endometriosis test positive, though final confirmation is still clinical. A negative is less conclusive, because the test misses about 20% of true cases. The test identified 61.5% of histologically confirmed cases that transvaginal ultrasound and/or MRI missed. # We did one more saliva based test and will report back on that when results are returned.