“A Window into Rare” a Rare Disease Day Panel Discussion

Join our Rare Disease Day virtual panel discussion as BioNews columnists from a variety of our rare communities participate in a lively conversation with fellow patient advocate Liza Bernstein. This window into often overlooked aspects of life with a rare disease will provide a variety of patient perspectives. Topics will include awareness and advocacy, equity, mental health, empowerment, and more. We invite everyone to join us for this signature event and look forward to your participation in the Q and A!

Panelists:

Paris Dancy, Columnist, Cushing’s Disease News
Michelle Gonzaba, Columnist, Myasthenia Gravis News
Claire Richmond, Columnist, Porphyria News
Sherry Toh, Columnist, SMA News Today

Hosted by Liza Bernstein, Patient Advocate & Sr. Director Patient & Community Engagement

Feb 28, 2022 02:00 PM in Central Time (US and Canada)

Register at https://us06web.zoom.us/webinar/register/WN_dylme0wBRCyH8TfQ7B6x-w

Join us for a Virtual RDLA Regional Meet and Greet Session!

Meet Rare Disease Advocates from your state and region, get to know our YARR members, and win prizes!

Each session is arranged based on where you live and hosted by RDLA in partnership with the Young Adult Representatives of RDLA (YARR) and State Organization Leaders.

This is a fun opportunity for the rare disease community in each region and state to get together before Rare Disease Week to foster community and camaraderie. Whether you are new or a veteran of the rare disease community, there will be something for everyone. We want to take time to get together socially before the excitement of Rare Disease Week! See below for details on the virtual session in YOUR region.

Please note that you will be prompted to select which Meet and Greet session below you would like to attend once you reach the checkout page. One session per attendee. Please choose the session with the state from where you are located. Please note the time zone!

Virtual Regional Meet and Greet Sessions:

January 11 at 5-6 pm PST: AK, AZ, CA, CO, HI, ID, MT, NV, NM, OR, UT, WA, WY, U.S. Territories

January 11 at 6-7 pm CST: AR, IL, IN, IA, KS, MI, MN, MO, NE, ND, OK, SD, WI

January 13 at 6-7 pm CST: AL, FL, GA, KY, LA, MS, OH, SC, TN, TX, WV

January 13 at 6-7 pm EST: CT, DC, DE, ME, MD, MA, NH, NJ, NY, NC, PA, RI, VT, VA

No prior experience necessary. Registration for this event and all RDLA events are free for rare disease advocates.

RAFFLE DETAILS: To be entered to win the raffle, registration AND attendance to one Regional Meet and Greet 2022 session is required. Only one winner per session. No repeat winners for attending multiple sessions.

This is NOT registration for Rare Disease Week. If you have not registered for Rare Disease Week and would like to please click here.

For more information or for any questions, please contact Rachelle Raudes, RDLA State Advocacy Fellow at rraudes@everylifefoundation.org or visit our State Advocacy Hub.

Register Here for a Virtual Meet and Greet Session
You can find the schedule of events for Virtual Rare Disease Week below.

Virtual Rare Disease Week on Capitol Hill 2022 Schedule of Events

Tuesday, February 22

1:00-2:00 pm ET: Rare Disease Congressional Caucus Briefing

5:30 -7:30 pm ET: Rare Disease Documentary Screening

Wednesday, February 23

1:00-5:00 pm ET: Legislative Conference Day 1

5:00 pm ET: Virtual Rare Artist Gallery Opens

Thursday, February 24

1:00-5:00 pm ET: Legislative Conference Day 2

5:15-6:00 pm ET: YARR Meetup

Friday, February 25

12:00-1:00 pm ET: Office Hours

Monday, February 28

Rare Disease Day at NIH

Tuesday, March 1

Meetings with House of Representatives

Wednesday, March 2

Meeting with Senators

Record a Video and Receive Rarity the Zebra!

Please help us spread the word to other patients and caregivers about Rare Patient Voice by submitting a short video about your experience with us. Using the Storyvine app, recording a video on your phone is quick, easy, and fun! Videos will be featured on our website, on social media, and in newsletters.

Check out and join the growing group of RPV patients and caregivers who have recorded stories! https://rarepatientvoice.com#sharevoice

Follow these steps to record and submit your own video!

Step 1: Scan with code below with the camera app from your Apple/Android mobile device or click the link below!

https://admin.storyvine.com/app_users/sign_up/Sharing_My_Voice

Step 2: Download the Storyvine app from the App Store or Google Play

Step 3: Film and upload your video!

To thank you for recording a video, we will send you a Rarity zebra plushie AND enter you in a raffle to win a $100 Amazon gift card. Congratulations to Stacy of South Carolina, our December 1 raffle winner! Our next raffle will be held in early January.

👥 Interview: False Positives for Adrenal Insufficiency

– AI false positives pose serious danger to patients; cutoff changes recommended

by Scott Harris , Contributing Writer, MedPage Today November 15, 2021

This Reading Room is a collaboration between MedPage Today® and:

Medpage Today

For adrenal insufficiency (AI), reducing false positives means more than reducing resource utilization. Treatments like glucocorticoid replacement therapy can cause serious harm in people who do not actually have AI.

Research published in the Journal of the Endocrine Society makes multiple findings that report authors say could help bring down false positive rates for AI. This retrospective study ultimately analyzed 6,531 medical records from the Imperial College Healthcare NHS Trust in the United Kingdom.

Sirazum Choudhury, MBBS, an endocrinologist-researcher with the trust, served as a co-author of the report. He discussed the study with MedPage Today. The exchange has been edited for length and clarity.

This study ultimately addressed two related but distinct questions. What was the first?

Choudhury: Initially the path we were following had to do with when cortisol levels are tested.

Cortisol levels follow a diurnal pattern; levels are highest in the morning and then decline to almost nothing overnight. This means we ought to be measuring the level in the morning. But there are logistical issues to doing so. In many hospitals, we end up taking measurements of cortisol in the afternoon. That creates a dilemma, because if it comes back low, there’s an issue as to what we ought to do with the result.

Here at Imperial, we call out results of <100 nmol/L among those taken in the afternoon. Patients and doctors then have to deal with these abnormal results, when in fact they may not actually be abnormal. We may be investigating individuals who should really not be investigated.

So the first aim of our study was to try and ascertain whether we could bring that down to a lower level and in doing so stop erroneously capturing people who are actually fine.

What was the second aim of the study?

Choudhury: As we went through tens of thousands of data sets, we realized we could answer more than that one simple question. So the next part of the study became: if an individual is identified as suspicious for AI, what’s the best way to prove this diagnosis?

We do this with different tests like short Synacthen Tests (SST), all with different cutoff points. Obviously, we want to get the testing right, because if you falsely label a person as having AI, the upshot is that treatments will interfere with their cortisol access and they will not do well. Simply put, we would be shortening their life.

So, our second goal was to look at all the SSTs we’ve done at the center and track them to see whether we could do better with the benchmarks.

What did you find?

Choudhury: When you look at the data, you see that you can bring those benchmarks down and potentially create a more accurate test.

First, we can be quite sure that a patient who is tested in the afternoon and whose cortisol level is >234 does not have AI. If their level is <53.5 then further investigation is needed

There were similar findings for SSTs, which in our case were processed using a platform made by Abbott. For this platform, we concluded that the existing cut-offs should be dropped down to 367 at 30 minutes or 419 at about 60 minutes.

Did anything surprise you about the study or its findings?

Choudhury: If you look at the literature, the number of individuals who fail at 30 minutes but pass at 60 minutes is around 5%. But I was very surprised to see that our number at Imperial was about 20%.

This is a key issue because, as I mentioned, if individuals are wrongly labelled adrenally insufficient, you’re shortening their life. It’s scary to think about the number of people who might have been given steroids and treated for AI when they didn’t have the condition.

What do you see as the next steps?

Choudhury: I see centers unifying their cutoffs for SST results and making sure we’re all consistent in the way we treat these results.

From a research perspective, on the testing we’re obviously talking about one specific platform with Abbott, so research needs to be done on SST analyzers from other manufacturers to work out what their specific cutoffs should be.

Read the study here and expert commentary on the clinical implications here.

The study authors did not disclose any relevant relationship with industry.

📞Webinar on The 20-minute Mini Back Scope Adrenalectomy (MBSA)

 

Dr. Friedman will host Tobias Carling, MD, PhD, FACS
Surgeon-in-Chief & Founder
Carling Adrenal Center
Hospital for Endocrine Surgery
www.adrenal.com
Who will talk on:
The 20-minute Mini Back Scope Adrenalectomy (MBSA)

The Carling Adrenal Center is the world’s busiest adrenal surgery center, operating on patients from all 50 states and all over the world.

Dr. Carling is the most experienced adrenal surgeon in the United States, and by far the world’s most knowledgeable surgeon-scientist when it comes to adrenal gland function and disease, adrenal tumors and cancer, and all forms of adrenal gland surgery. Dr. Carling has more experience with advanced minimally invasive adrenal and endocrine operations than any surgeon in the United States. A fellow of the American College of Surgeons, Dr. Carling is a significant member of both the American Association of Endocrine Surgeons (AAES) and the International Association of Endocrine Surgeons (IAES).

Dr. Carling spent 17.5 years at Yale University and the Yale University School of Medicine where he served as the Chief of Endocrine Surgery, Associate Professor of Surgery, Program Director of the Yale Endocrine Surgery Fellowship and the Founder & Director of the Yale Endocrine Neoplasia Laboratory, a supreme scientific program focused on the molecular pathogenesis of tumors arising in the adrenal, thyroid and parathyroid glands.

Dr. Carling moved his world-renowned adrenal surgery program to Tampa, Florida in early 2020 to start the Carling Adrenal Center. Here, patients needing adrenal surgery have access to the best practices and best techniques the world has to offer.

Dr. Carling works closely with Dr. Friedman and will be able to perform a Mini Back Scope Adrenalectomy with a referral from Dr. Friedman.
Sunday • November 7• 6 PM PST

Via Zoom Click here to join the meeting or
https://us02web.zoom.us/j/4209687343?pwd=amw4UzJLRDhBRXk1cS9ITU02V1pEQT09
OR
+16699006833,,4209687343#,,,,*111116#
Slides will be available before the webinar and recording after the meeting at slides

Your phone/computer will be muted on entry. There will be plenty of time for questions using the chat button.
For more information, email us at mail@goodhormonehealth.com

🎤 4th Pituitary Update | Perelman School of Medicine at the University of Pennsylvania

Friday, October 8, 2021

7:45 am – 4:00 pm

OVERVIEW

This conference will present the newest approaches and techniques in the diagnosis and treatment of pituitary adenomas, including acromegaly and Cushing’s disease. Diagnosis and treatment will be covered from the interdisciplinary and interprofessional perspective of endocrinology, radiology, neuro-ophthalmology, neurosurgery, and radiation oncology. Didactic presentations will include case discussions. The conference format, although virtual will provide a significant opportunity for interaction with expert faculty. A simulcast of transsphenoidal surgery will occur throughout the conference with real-time discussion and case review of the progress on the day of surgery, post-op management, surveillance and follow-up care.

Participants will leave with up-to-date, practical information and written resources including: DDAVP stimulation protocol for Cushing’s disease localization, perioperative glucocorticoid and salt-water monitoring protocol, clinic note templates, laboratory testing panels, “Sick Day Rules” letter for patients with adrenal insufficiency.  These materials will have immediate clinical application and help streamline care of pituitary patients at the office and during hospitalizations.

LEARNING OBJECTIVES – CME

Upon completion of this conference, participants should be able to:

  • Evaluate a sellar mass to determine if it is a pituitary adenoma or other lesion
  • Identify the value and limits of MRI in evaluating a sellar mass
  • List the potential and limits of endoscopic transsphenoidal surgery for pituitary adenoma
  • Manage, medically, a patient following endonasal surgery
  • List the different types of radiation, including linear accelerator (IMRT, Cyberknife), gamma radiation, (Gamma Knife) and proton beam
  • Treat, medically, patients who have acromegaly and Cushing’s disease
  • Apply multidisciplinary, interprofessional and interdisciplinary approach in the management of pituitary disease

LEARNING OBJECTIVES – PATIENTS

  • Upon completion of this course patients, families and advocates will be able to:
  • Identify the latest advances in pituitary tumor treatment
  • Demonstrate familiarity with the terminology and technical aspects of pituitary tumor care
  • Demonstrate patient-active behavior in working with the healthcare team to make ongoing treatment decisions

WHO SHOULD ATTEND

This activity has been designed for endocrinologists, neurosurgeons, ophthalmologists, gynecologists, general radiologists, nurse practitioners, nurses, residents and fellows. Additionally, patients and their caregivers, family members, advocates and members of the public who may benefit from understanding current innovative approaches to pituitary tumor care are invited.

For additional information please contact Hyacen Putmon.

Register Now

🏆 Last chance to submit a RareVoice Nomination!

 

1) Visit RareVoiceAwards.org

2) Review the 2021 RareVoice categories

3) Nominate an advocate who gave rare disease patients a voice on

Capitol Hill and in state government in 2020 and 2021.

4) Submit!

The RareVoice Awards recipients are chosen by a committee from nominations received from the rare disease community.

 
Nominations close August 27th, 2021
Federal Advocacy – Congressional Staff
Honors congressional staffers who have worked to create and enact policies for the rare disease community

Federal Advocacy – Patient/Organization
Honors advocates or organizations that have worked to create and pass federal legislation

State Advocacy – State Legislator
Honors state legislators who have worked to create and enact policies for the rare disease community

State Advocacy – Patient/Organization
Honors advocates or organizations that have worked to create and pass state legislation

Federal or State Advocacy by a Teenager
Honors teen advocates that have advocated for state or federal legislation

Diversity Empowerment – Patient/Organization
Honors advocates or organizations that empowered diverse voices in advocacy

Artist-to-Advocate
Honors individuals who have utilized their artwork to advocate for federal or state legislation

For information about sponsorship, please contact Elissa Taylor, etaylor@everylifefoundation.org
EveryLife Foundation For Rare Diseases
1012 14th Street, NW, Suite 500 | Washington, District of Columbia 20005
202-697-7273 | info@everylifefoundation.org

🎤 RARE Patient Advocacy Summit

Each year, Global Genes convenes one of the world’s largest gatherings of rare disease patients, caregivers, advocates, healthcare professionals, researchers, partners and allies.

Join us for a variety of interactive and educational events, meet-ups, workshops and networking opportunities. Here you’ll have the opportunity to connect and engage with others in the rare disease community, while experiencing the sense of community and belonging we’ve missed so much. Gain insights about the latest in rare disease innovations, best practices for advocating on an individual and organizational level, and actionable strategies you can implement immediately to accelerate change.

The 2021 RARE Patient Advocacy Summit is a virtual event, happening Monday, September 27, 2021 through Wednesday, September 29, 2021.

2021 RARE Patient Advocacy Summit virtual registration is now open!

Register here: https://web.cvent.com/event/289bd182-abf4-49b0-90be-c2320566c276/regProcessStep1

Speakers: https://globalgenes.org/summit-featured-speakers/

Interested in becoming a speaker? Fill out the speaker inquiry form here.

🎤 Living Rare Living Stronger ~ Nord® Patient and Family Forum June 26-27Th

2021 Living Rare, Living Stronger NORD Patient and Family Forum featuring the Rare Impact Awards

Those who wish to gain practical tools for living optimally with rare diseases are encouraged to attend the annual Living Rare Living Stronger Patient and Family Forum, hosted by the National Organization for Rare Disorders (NORD) and set this year for June 26-27.

The conference brings together patients, families, healthcare professionals, and other supporters for learning, sharing, and connecting.

Due to the ongoing COVID-19 pandemic, the general sessions, breakout workshops, and networking will again be virtual. The sessions, which will offer perspectives from patients, caregivers, and the medical community, will air live and be recorded for later viewing. Throughout the forum, participants will be able to visit the exhibit hall and have peer meetings with other attendees.

Also this year, the Rare Impact Awards will return as part of the program. That presentation, on June 28, honors individuals, organizations, and industry innovators for exceptional work benefitting the rare disease community.

“The health and well-being of people living with rare diseases, their loved ones and those working to improve their lives continues to remain a top priority for all of us here at NORD,” the organization stated in its forum announcement.

“The COVID-19 pandemic brought us new ways to engage with our community and our 2020 virtual program was the most successful forum to date! In 2021 we will continue to work hard to keep our community healthy and safe while engaging in this impactful program,” NORD said.

Registration for the “patient-centric” event is $39 for patients, caregivers, students, and NORD patient organization representatives. The cost is $75 for professional advocates, people from academia, physicians, and government representatives, and $500 for NORD corporate council members. For pharmaceutical, insurance, or other representatives, registration is $650.

As for the agenda, the opening discussion will be on “The Patient-Professional Partnership” and will include three stories on the close bond between patients and their care professionals.

Breakout sessions for Saturday, June 26 will include “Coping with Grief and Anticipatory Grief,” “Shared Decision-Making with Your Care Team,” and “Working While Rare” as first offerings, followed by “Getting Involved in Clinical Research: Finding and Preparing for Clinical Trials,” “Navigating Insurance, Social Security Disability and Patient Assistance Programs,” and “The ABCs of Advocating for Your Child’s Education” in the second group of workshops.

Those will be followed by a plenary discussion on the topic “Building Resilience in a Time of Unknowns.” The speakers will explore how patients coped while waiting for a diagnosis, how they are faring while waiting for new treatments, and how they have kept it together during the pandemic.

June 27 will start with an opening plenary discussion titled “The Rare Sibling Experience.” Here, three siblings of rare disease patients will share their experiences, including how they became advocates.

Breakout sessions on this day will include “Fighting Back and Fighting Forward Through Advocacy,” “Palliative Care: Debunking the Myths,” “Rare in the Family: Navigating the Roles of Patient, Parent, and Caregiver” in the first set of discussion groups. Later offerings that Sunday will include “Aging with a Rare Condition,” “Finding Your Community and Building Your Support Network,” and “The Intersection of Race, Ethnicity, and Equity with Diagnosis and Treatment Access.”

The closing plenary discussion, titled “Rare Breakthroughs Now and on the Horizon,” will cover the latest advances in the diagnosis, treatment, and care of rare diseases.

Early this year, NORD put out a call out for individuals who were willing to share their real-life experiences with rare diseases at the conference. In all, including physicians, nurses, and other healthcare professionals, the conference will feature some 55 speakers. Access to the virtual program will be provided via email the week of the event.

📞 Webinar: Updates on Treating Hypothyroidism

 

Updates on Treating Hypothyroidism

Dr. Theodore Friedman will be giving a webinar on Updates on Treating Hypothyroidism.

Topics to be discussed include:

  • New articles showing patients prefer desiccated thyroid
  • New thyroid hormone preparations
  • Update on desiccated thyroid recalls
  • New article on why TSH is less important than thyroid hormone measurements
  • What is the difference between desiccated thyroid and synthetic thyroid hormones?
  • Is rT3 important?

Sunday • April 25• 6 PM PDT

Via Zoom Click here to join the meeting or
https://us02web.zoom.us/j/4209687343?pwd=amw4UzJLRDhBRXk1cS9ITU02V1pEQT09
OR
+16699006833,,4209687343#,,,,*111116#
Slides will be available before the webinar and recording after the meeting at slides

      Meeting ID: 420 968 7343 Passcode: 111116
Your phone/computer will be muted on entry. There will be plenty of time for questions using the chat button.
For more information, email us at mail@goodhormonehealth.com