EP 20 | Genetic Counseling

Today we meet the three unique cases of: Bryce, Lara and Jesse. All are involved in genetic testing in different capacities. Genetic testing effects not just the individual, but their whole family and is a balance between autonomy and medical ethics. Stay tuned today to hear their stories, as well as insight from a genetic counselling assistant, Brittany who works with providers and patients every day. This is the season two finale of the Probably Not Lupus Podcast.

Evan was only 35 years old when he experienced a rare type of stroke while out training for a marathon. Luckily, after spending four days in the ER, Evan was discharged home and made a complete physical recovery. So well in fact, his neurologists were confident his risk of another stroke went back down to baseline. But what about the other types of recovery? Listen now as we welcome back Evan Caldbick, a cognitive neuroscientist to discuss the mental and emotional cost of disease.

Tracy was 40 years old when she first noticed a raised bumpy area on her forehead just above her eyebrow. After the lesion didn't resolve on its own she saw a dermatologist for further evaluation. For 10 years, Tracy was treated with ablative therapy where the dermatologist would burn these lesions off. Although she was never given a formal diagnosis, the dermatologist believed that they were warts and removal was required. This treatment left scars, and the lesions kept returning. Then, on an chest x-ray unrelated to her lesions her doctors found her diagnosis. Find out what caused Tracy's skin and lung findings on the Probably Not Lupus Podcast.

Achondroplasia is the most common type of dwarfism worldwide, affecting 1 in about 15,000 live births and 80% of all dwarfs. Today we welcome our first olympian to the show, Danielle Kisser.  Danielle most recently competed in the Tokyo 2020 Paralympic games, all while being named to the team just three short weeks before they departed. She is here today to talk about all things dwarfism, swimming and life when not in the pool.   To be inspired further by Danielle, check out her youtube channel, This Little Light, or her instagram and twitter @Dee_Kisser.

Welcome back for part two of our series on Mom and Baby. In part one, doctors couldn't figure out why a 42 year old pregnant woman suffered from a stroke and failing kidneys. That is until they realize it's her baby that is making her sick. Maternal Mirror Syndrome can be deadly if not treated in time and the doctors race against the clock to diagnose the underlying cause and save both Baby and Mom Listen now to part two of this week's Probably Not Lupus podcast and find out the outcome for both Mom and Baby. 

This week's two part series brings you not one but two patients. A medical mystery two-for-one special. In part one, a 42 year old pregnant woman suddenly suffers a stroke and none of her doctors can figure out why. After a battery of tests and images the doctors are stumped and with her condition quickly deteriorating they must diagnose her before they lose both Mom and Baby. Listen now to part one of this week's Probably Not Lupus podcast and then tune in right away to figure out what happened in part two.

No formal episode this week; just a quick update on where we are at. Email us at [email protected] if you want to enter our contest. We will donate $50 in your name to the BCSPCA for the first correct answer.

Pediatric child abuse specialists are trained to determine whether kids’ injuries are accidental. They examine the injuries, rule out disease, and speak with caregivers to determine the likely cause. But when their assessments are wrong, it can devastate families. Although protecting children from their abusers is the goal, the fall out from that process can tear families apart. Listen now as we welcome back Dr. Jesse Goodall MD on this weeks episode of the Probably Not Lupus Podcast.

On a trans-polar flight from Singapore to New York a doctor comes on the overhead speakers. "Ladies and gentlemen, we have a passenger with a confirmed case of bacterial meningitis. Even if we land as soon as possible, the passenger will not survive. It’s very likely that some of you have been infected as well. As soon as you start feeling symptoms, we need to isolate you in the first-class cabin. Fever, rash, nausea and in the late stages, a tremor in the left hand." Moments later, several passengers rush to the first class cabin with hand tremors. The only problem is, bacterial meningitis doesn't cause hand tremors....

This week’s case is a 22 year old male who reports recurrent and intermittent episodes of rashes. He describes them as intensely itchy patches on his chest and arms, and states he has experienced them for the past 10 years. Whenever the episodes occur, the rash remains for about a half an hour and then as suddenly as it occurs, it resolves. The most recent episodes he can recall include following bathing, and after walking outside on a rainy day. He wonders, could I be allergic to water?