Ehlers-Danlos Syndromes with Izzy Kornblau
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- Опубліковано 16 лис 2023
- We return in person to record at NBC Stamford Studios to learn about Ehlers-Danlos syndromes, we are joined by cardiovascular genetic counselor, patient advocate, and UA-camr Izzy Kornblau.
Izzy Kornblau, MS, CGC, is a cardiovascular genetic counselor at the Mount Sinai Medical Center in New York. Izzy has over 3 years of research experience in the Ehlers-Danlos syndromes (EDS). Her current research focus is investigating the genetic etiology of hypermobile Ehlers-Danlos syndrome using a candidate gene first identified by the medical university of South Carolina.
Izzy began making UA-cam videos in 2018. content includes educational videos about genetics, genetic counseling, EDS, and navigating the healthcare system and social situations with a chronic illness. She graduated with a master’s of genetic counseling from the Icahn School of Medicine at Mount Sinai in 2023 and completed her undergraduate degree at Washington University in St. Louis in 2019. She has over 45,000 UA-cam subscribers with over 100 published videos.
On This Episode We Discuss:
Izzy’s UA-cam channel success covering genetics, genetic counseling, EDS, and navigating healthcare with a chronic illness.
Insights into Ehlers-Danlos syndromes: Understanding different types under the EDS umbrella and their impact on individuals and families.
Personal journey: A genetic counselor and individual with EDS - how personal experience shapes genetic counseling approach.
Personal insights in supporting patients and families dealing with EDS: Leveraging firsthand knowledge to provide effective support.
Signs and referrals for EDS evaluation: Addressing the often-overlooked condition and signs that may prompt a genetics referral.
Challenges and opportunities in career as a genetic counselor with EDS: Shaping perspective and influencing genetic counseling approach.
Advice for those newly diagnosed with EDS: Providing guidance, especially on self-advocacy.
Fostering community and support: Building connections for patients and peers dealing with genetic conditions.
Research on hypermobile EDS genetic etiology: Investigating candidate genes and contributing to the understanding of the condition.
Research background informing genetic counseling: How a research background shapes the approach to genetic counseling, particularly in EDS.
Tips for navigating genetic conditions and healthcare: Advice for individuals and families facing challenges in these areas.
Key issues in genetics and healthcare accessibility: Discussing important challenges that need more attention.
Importance of raising awareness about genetic conditions: The impact on early diagnosis and treatment.
Legacy in the field of genetics: As a counselor and content creator, the desired impact on the field and community.
Check out Izzy’s UA-cam channel. We recommend this video where Kira and Izzy react to genetic scenes in TV shows like Glee, Grey’s Anatomy, and Broad City.
Stay tuned for the next new episode of DNA Today on Friday November 24th, 2023! New episodes are released every Friday. In the meantime, you can binge over 260 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our UA-cam channel.
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.
See what else we are up to on Twitter, Instagram, Facebook, UA-cam and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. - Наука та технологія
I am so grateful for Izzy sharing her story with everyone including me, I have Classical EDS and my niece has hEDS. We both got them from our parents, and I also have POTS + CCI due to my cEDS.
Im really grateful to Izzy. My identical twin sister was diagnosed with hEDS in 2014. Although she told me about it, i never really researched it. Years later i started fainting snd she reminded me about hEDS and i looked it up. It was like a lightbulb moment. I then found Izzy's channel and learned about the diagnostic criteria. My first rheumatologist in NHS said i wasn't even hypermobil and didn't believe me that my identical twin sister was diagnosed. So i printed off her two diagnosis letters and took them to the hypermobility clinic where she was diagnosed and i was diagnosed on the sane day with hEDS. Ive been in physio for a year and a half now.
I have eds hypermobility type, and it has wrecked my body. My doctors are at the phase of telling me to wait for my joints to fuse. They tell me this will relieve some of the pain lol. More education in the medical community is desperately needed. I went through one nightmare after another during the past 25 years over this condition. Thank you for discussing this. ❤
This seems like a poorly understood condition that is pretty prevalent in the population that is probably being under-reported. This is one of those conditions that tends to be a late diagnosis too after people have suffered with it for years.
Would either of you recommend a company to get WGS to confirm VEDS?
Izzy am I wrong, but it appears that you have grey eyes, apparently grey is the rarest colour in eyes, and is because of collagen!!!
My eyes are grey/blue but I have heterochromatic eyes with the ring around the outer edge. Iridial ring?
So Izzy says that the hEDS does not involve cardiac issues other than POTS and orthostadic issues. I thought that it involved Mitral Valve pro lapse. If a person has or if a family has an issue with all or most of the heart valves plus Significant venous issues, what is that a sign of? I know it could be Marfan's syndrome, but if it's not that, should people get genetic testing find out the cause?
I have myxomatous mitral valve, MCAS, POTs, low lying caecum (enteroptosis or visceroptosis) extremely underweight, gastrointestinal issues, visible veins, prominent ovarian and uterine varices, etc
As I understand MVP (mitral valve prolapse) can be something that is associated with hEDS especially if we have a myxomatous mitral valve.
I’ve had one genetics appointment with a cardiologist who is also a geneticist here in Australia, who said he suspects I have Hypermobility Spectrum Disorder.
My results should be back around October, the test will be done in Finland.
The most upsetting thing to me was that the Dr told me that I had a “stiff” heart valve! It’s actually the opposite! SMH thankfully I have a cardiologist geneticist 🙏
The geneticist refused to see me but told my PCP that I probably have EDS but that there is no cure so there is no point in diagnosing me.
I advise you to not give up, don’t take crap from anyone as the diagnosis is something that can be very helpful, even to others in the family who may be affected.
It’s expensive but it’s really worth it in my opinion because it can be the difference between being gaslighted or cared for. ❤
Can you link Izzy's channel, please?
Of course!! www.youtube.com/@IzzyKDNA