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What a year it has been for everyone! Year-end 2020 brings us nearly two years since launch, and includes one and a half school years (or three semesters) of medical school. During that time we have established our mission, pivoted from in-person to virtual thanks to COVID-19, achieved 92% of our presentation goal for 2020, and are excited for 2021!

Our mission is to educate future doctors about amyloidosis, with the belief that heightened awareness will lead to earlier diagnosis and ultimately improve patient survivorship. We know that the level of medical school education about amyloidosis runs the gamut, from a small mention in textbooks to classroom discussions with medical professionals, although the bias is overwhelmingly towards the “minor mention.” As a result, we are confident our efforts will provide students with a valuable enriched exposure to this disease to augment the medical school curriculum.

EXECUTIVE SUMMARY

Last year, we set our 2020 goal at 60 presentations, not knowing what was ahead. We gave 22 presentations in the Spring, and 33 presentations this Fall. So while we didn’t quite reach our goal, we are super proud that we did achieve 92% of our goal! Go us!
We are thrilled that our activities are expanding – not only are we returning to medical schools we presented to last year, but we are adding new schools to the roster. A long way to go, but still positive direction. A full list can be found at the end of this update.
Our agility in shifting last Spring to a virtual platform served us well. This rapid shift minimized the impact to our operations and, as a result, we were suspended for only a few months. By April, operations had resumed on a minimal basis. By August, operations were back to full swing, with everything being virtual since then.
We average around 45 speakers, which allows for diversity in our speaker population’s disease state and flexibility in their availability. This has served us well.
Our additional resources to develop speakers, their presentation styles, their stories, and their virtual audio/video capabilities has been well-received and we believe is translating to a higher quality offering.
We are particularly delighted that our medical school student mailing list – those interested post-presentation in continuing to receive information about amyloidosis – keeps growing and we will be at 100 in the near future! Content is pulled from experts and other trusted organizations with the intention to offer brief insights into the disease.
This year, with the help of one of our speakers who is a professor/Ph.D. in social science, we will be investigating how we can better ascertain and improve our speaker/ASB effectiveness in the eyes of the medical students.
Each Spring and Fall we reach out to medical school deans, updating them on our activities.

THE 2020 NUMBERS

We reached out to nearly all 160 continental U.S.-based medical schools and student interest groups, met with varying degrees of interest (or no response and/or no interest in some cases).
We made 55 presentations in 2020, and have 10 already booked for Spring 2021. Since the ASB started, we now have 89 presentations logged. A complete list of schools we have presented to since we began can be found at the end of this email.
Roughly 20% of the presentations are within the curriculum; 80% are to student interest groups. Identifying the appropriate professor(s) and establishing a dialogue continues to be a big challenge.
Our educational materials, per the organizers, reached over 16,400 medical students, pushing us over 25,000 since we began.

SPEAKERS

The cornerstone of our effort is our group of wonderful patient speakers, who passionately volunteer their time to give back and share their stories of life with amyloidosis.

On average, we have around 45 active speakers, diversified by geography across the continental U.S., by amyloidosis type, by organ involvement, by gender and age. This is a rather deep bench, but we have found it both helpful and necessary. Helpful in that we can maximize attendance if we work around the preferred dates and times suggested by the schools. Helpful in that we can match specific disease states with audience focus (e.g., a cardiac amyloidosis patient speaker to a cardiology student interest group). Necessary in that periodically, a speaker’s personal situation may change and they need to step back either temporarily, or permanently. We are fortunate to have a steady pipeline of new speaker interest, which we spend time screening, qualifying and training. At present, we feel this is an appropriate number of speakers for our current and anticipated growth.

One area we have added resources to is training and presentation development for our speakers. Thanks to one of our speaker volunteers who has extensive experience, we offer in-depth guidance for new speakers in the development of their presentation outline and rehearsal training for their delivery. In addition, prior to every virtual presentation we rehearse and test the speakers’ audio and video technology. For those partaking, it has been an appreciated additional level of support and we believe is translating to a higher quality offering.

We are saddened that one of our speakers, Mark Stinehour, succumbed to this disease at the age of 56. He was passionate about giving back and leaving a lasting legacy to make a difference for those to come. Our hearts and prayers go out to Mark’s family.

ADVISORS

We are proud to have an impressive group of medical experts and influencers in the world of amyloidosis, some of whom are also patients, as advisors to support our initiative. Our advisors are active in our efforts and contribute their specialized expertise in a variety of ways, such as medical school introductions, grant requests, educational development, and patient speaker assessment/development. We are extremely grateful for their assistance and believe that, thanks to their contribution, the ASB will make an even bigger difference in the diagnoses of this disease. You can see our prestigious list of advisors on our website page www.mm713.org/speakers-bureau/

We are sad to share that one of our advisors, Dr. Janice Wiesman, passed away from COVID-19. Janice was an ardent and active supporter of our efforts and passionate about the world in which she lived. Our hearts and prayers go out to Janice’s family.

TESTIMONIALS – OUR TRUE REPORT CARD

Feedback from students and medical school professors has been extraordinarily positive. It reinforces to us that candid and authentic patient stories are a valuable complement to the medical school curriculum, strengthening the learning and deepening the durability for these future doctors about this disease. This is exactly why we do what we do. Here are just a few of the testimonials from this year.

The opportunity for second year medical students to hear the story of a patient with amyloid is invaluable. The presentation addressed aspects of pathophysiology they are learning and the human side of medicine. This presentation format offered an excellent teaching opportunity to inform doctors-in-training about this serious disease. Our students gained insight into the patient’s journey through diagnosis, treatment and the challenges ahead. We all appreciated the patient’s generosity in sharing her experiences. Having patients teaching medical students about amyloidosis will have a lasting impact on our future doctors with increasing awareness of this disease and ultimately will help future patients. Theresa Kristopaitis, M.D., Professor, Assistant Dean for Curriculum Integration, Loyola University Stritch School of Medicine

Such a powerful presentation that I will carry with me throughout my whole career, no matter what specialty I go into! I not only learned the importance of keeping amyloidosis on my differential, but also the importance of really listening to your patients and working through the hard diagnoses together. Solana Archuleta, MD Candidate, University of Colorado School of Medicine

I had several students make comments after the conclusion of the presentation that it was the best, one even said ‘exceptional,’ presentations given at our school from a patient. The materials gave all of the students, including myself, a great introduction to some of the pertinent findings in patients with amyloidosis. Co-President of the Internal Medicine Interest Group, University of Arizona College of Medicine, Phoenix

Hearing Ed talking about his journey with Amyloidosis was an incredible experience that only further inspired me to want to be a better physician for my future patients. It is one thing to learn about a condition in the classroom, but hearing the real-world struggles with it from another human being provides a whole new perspective. Ed was open about his journey and shared his feelings during each step, giving us insight into what it is like to be a patient with Amyloidosis. I will take what I learned from this presentation and apply it in order to ensure that patients I see in the future do not have to deal with the same issues that Ed had to deal with. Gurkaran Singh, MD Candidate, University of Arizona College of Medicine, Tucson

Diseases such as amyloidosis are often managed by specialists, but it is important for primary care physicians to recognize these signs and direct these patients to these specialists. Increasing awareness of these diseases among all physicians will help patients reach an answer sooner and can have a significant impact on their lives. Yue Zhang, MD Candidate, Northwestern Feinberg School of Medicine

Looking ahead to 2021 we again will target 60 presentations, and seek to expand the list of schools we present to. We are pleased with all we have accomplished thus far, energized by the feedback, cognizant that we have much ahead, and hope we have made you proud. As always, we welcome any comments you may have.

Stay safe, happy holidays, and all the best for a new 2021!

Mackenzie, Charolotte, and Deb

Operating Committee of the Amyloidosis Speakers Bureau, sponsored by Mackenzie’s Mission

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Since inception in 2019, the Amyloidosis Speakers Bureau has presented to medical students of the following medical schools.

California University of Science & Medicine, School of Medicine, San Bernardino

Central Michigan University College of Medicine

Chicago Medical School, Rosalind Franklin University of Medicine and Science

Cleveland Clinic Lerner College of Medicine

Columbia University Vagelos College of Physicians and Surgeons

Drexel University College of Medicine

Florida Atlantic University Charles E. Schmidt College of Medicine

Florida International University Herbert Wertheim School of Medicine

Florida State University College of Medicine

Geisinger Commonwealth School of Medicine

George Washington School of Medicine

Icahn School of Medicine at Mt. Sinai

Lewis Katz School of Medicine at Temple University

Loyola University Chicago Stritch School of Medicine

Mayo Clinic Alix School of Medicine, Rochester

Mayo Clinic Alix School of Medicine, Scottsdale

Northeast Ohio Medical University College of Medicine

Northwestern University Feinberg School of Medicine

NYU Grossman School of Medicine

Oakland University William Beaumont School of Medicine

Quinnipiac University Frank H Netter MD School of Medicine

Stanford University School of Medicine

Tufts University School of Medicine

University of Arizona College of Medicine, Phoenix

University of Arizona College of Medicine, Tucson

University of Chicago Pritzker School of Medicine

University of Colorado School of Medicine

University of Connecticut School of Medicine

University of Florida College of Medicine

University of Illinois College of Medicine, Chicago

University of Illinois College of Medicine, Peoria

University of Illinois College of Medicine, Rockford

University of Iowa Carver College of Medicine

University of Kansas School of Medicine, Wichita

University of Maryland School of Medicine

University of Massachusetts Medical School

University of Minnesota Medical School

University of Missouri Kansas City School of Medicine

University of Nevada Reno, School of Medicine

University of Pittsburgh School of Medicine

University of South Alabama College of Medicine

University of South Carolina School of Medicine, Columbia

University of Toledo College of Medicine

UNLV School of Medicine

Virginia Commonwealth University School of Medicine

Wayne State University School of Medicine

Wright State University Boonshoft School of Medicine

Yale School of Medicine

WHAT IS SPINAL STENOSIS?

Spinal stenosis is narrowing of the spinal column that causes pressure on the spinal cord, or narrowing of the openings (called neural foramina) where spinal nerves leave the spinal column.

This can develop as you age from drying out and shrinking of the disk spaces. (The disks are 80% water.) The narrowing can cause compression on nerve roots resulting in pain or weakness of the legs. If this happens, even a minor injury can cause inflammation of the disk and put pressure on the nerve. You can feel pain anywhere along your back or leg(s) that this nerve supplies.¹

SYMPTOMS¹

Symptoms often get worse slowly over time. Most often, symptoms will be on one side of the body, but may involve both legs. Symptoms include:

Numbness, cramping, or pain in the back, buttocks, thighs, or calves, or in the neck, shoulders, or arms
Weakness of part of a leg or arm

Symptoms are more likely to be present or get worse when you stand or walk. They often lessen or disappear when you sit down or lean forward. Most people with spinal stenosis cannot walk for a long period. More serious symptoms include:

Difficulty or poor balance when walking
Problems controlling urine or bowel movements

A POTENTIAL CLUE TO AMYLOIDOSIS?

Amyloid is a very common finding in cartilage and ligaments of elderly subjects, and transthyretin has been demonstrated in some deposits. Lumbar spinal stenosis is also a condition of usually elderly individuals in whom narrowing of the lumbar spinal canal leads to compression of nerves to the lower limbs.

“Another very important historical clue is spinal stenosis, and actually that’s much more commonly seen in patients with ATTR than AL, and in fact, again, almost exclusively in wild type,” according to Dr. Mazen Hanna²

WHAT IS SENILE, AKA WILD-TYPE, AMYLOIDOSIS (ATTRwt)?

Amyloidosis is a generic name for a very diverse group of protein folding disorders, all characterized by creation of cross-beta-sheet fibrils. At least 30 different human proteins have been shown to form amyloid fibrils in vivo (7). Two main groups of amyloid conditions exist: systemic and localized. In the systemic conditions, deposits occur in many organs and tissues, and the diseases are usually life-threatening; in each of these diseases one out of at least 15 plasma proteins forms amyloid fibrils far from the place of parent protein synthesis. In the localized conditions, the proteins are expressed at the site of deposition (8). In both groups, fibrils usually deposit extracellularly and can form conspicuous masses that deform a tissue and interfere with its normal functions.⁵

Senile systemic amyloidosis (SSA), derived from wild-type transthyretin (TTR), is common in association with aging, although symptom-giving disease usually is comparably rare and affects males at least 10 times more often than women. Restrictive cardiomyopathy is the main clinical expression. However, carpal tunnel syndrome is common in SSA, and widely spread wild-type ATTR amyloid deposits at other connective tissue sites have been demonstrated (25).⁵

Joint cartilage and ligaments are targets of both localized and systemic amyloid. Of the systemic forms, Aβ2-microglobulin [for nomenclature, see (7)] amyloidosis is well-known to engage skeletal and joint structures in patients under hemodialysis due to renal insufficiency (9-13). Also, immunoglobulin light chain (AL) amyloidosis is known to generate a variety of symptoms from joints and skeleton, sometimes with neural lesions. Carpal tunnel syndrome is often noted in transthyretin (ATTR) and Aβ2-microglobulin amyloidosis (15–17).⁵

CONCLUSION

From the studies referenced therein, results suggest that transthyretin-derived amyloid deposits may occur more frequently in various ligaments and tendons than originally expected³and that lumbar spinal stenosis quite frequently may be a consequence of senile systemic amyloidosis [also known as wild-type amyloidosis; ATTRwt]⁵.

Stay suspicious.

Sources:

¹https://www.mountsinai.org/health-library/diseases-conditions/spinal-stenosis

² https://www.neurologylive.com/view/cardiac-amyloidosis-management

³ https://pubmed.ncbi.nlm.nih.gov/21334722/

Sueyoshi T, Ueda M, Jono H, Irie H, Sei A, Ide J, Ando Y, Mizuta H. Wild-type transthyretin-derived amyloidosis in various ligaments and tendons. Hum Pathol. 2011 Sep;42(9):1259-64. doi: 10.1016/j.humpath.2010.11.017. Epub 2011 Feb 21. PMID: 21334722.

⁴ https://pubmed.ncbi.nlm.nih.gov/14640042/

Westermark P, Bergström J, Solomon A, Murphy C, Sletten K. Transthyretin-derived senile systemic amyloidosis: clinicopathologic and structural considerations. Amyloid. 2003 Aug;10 Suppl 1:48-54. PMID: 14640042.

⁵ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4116761/

Westermark P, Westermark GT, Suhr OB, Berg S. Transthyretin-derived amyloidosis: probably a common cause of lumbar spinal stenosis. Ups J Med Sci. 2014;119(3):223-228. doi:10.3109/03009734.2014.895786

⁶ https://en.wikipedia.org/wiki/Spinal_stenosis

WHAT IS IT?

According to the NIH ⁽¹⁾, macroglossia is the abnormal enlargement of the tongue in proportion to other structures in the mouth. It usually occurs secondary to an underlying disorder that may be present from birth (congenital) or acquired.

SYMPTOMS

Symptoms associated with macroglossia may include drooling, speech impairment, difficulty eating, noisy, high-pitched breathing (stridor), snoring, airway obstruction, abnormal growth of the jaw and teeth, and ulceration. In some cases, the tongue may protrude from the mouth. ⁽¹⁾⁽³⁾

Talking may be affected. The large size of the tongue may also cause abnormal development of the jaw and teeth, resulting in misaligned or protruding teeth. Ulceration and dying tissue on the tip of the tongue may be other symptoms of the disorder. ⁽³⁾

In addition to an enlarged tongue it is common to see indentations around the tongue perimeter from the constant pressure against the teeth.

Patients who graciously offered their picture for this blog reinforce many of these symptoms, including TMJ, difficulty swallowing, and breathing. Reiterated almost unanimously, eating is a problem – chewing and swallowing, clearing food from their mouth. Food gets stuck in front of their teeth. Speech is affected, and they often sound “slushy.” Snoring can get so bad it wakes them (and partners) up during the night. In addition, sometimes, their tongue gets sore from rubbing against their teeth.

WHAT CAUSES IT?

Macroglossia can be associated with a wide range of congenital (present from birth) and acquired conditions (e.g., malignancies, metabolic/endocrine disorders, inflammatory or infectious diseases; amyloidosis), or it can occur as an isolated feature (with no other abnormalities). In most cases, it is due to vascular malformations (blood vessel abnormalities) and muscular hypertrophy (an increase in muscle mass). ⁽¹⁾

Macroglossia, while occurring much more frequently in AL amyloidosis, can also accompany ATTR amyloidosis. ⁽²⁾

HOW IS IT TREATED?

Treatment depends upon the underlying cause and severity and may range from speech therapy in mild cases, to orthodontic procedures, to surgical reduction in more severe cases. ^{(1) (3)}

Sources

Amyloid is a term that is often misunderstood. It is actually a term that is broader in meaning than generally realized. It’s easy to think that ‘amyloid = amyloidosis,’ but it’s actually associated with many diseases outside of the world of amyloidosis.

To make understanding the term amyloid a bit easier, let’s take a step back and talk briefly about proteins and their structure. An easy way to understand this process is by using an analogy to words and language. The fundamental building block of language is the alphabet and individual letters. Putting these letters together allows us to create words that have meaning, but words alone are not enough to fully communicate what we are trying to say. We must have sentences to convey our ideas.

The same goes for proteins. The way they are able to function properly is through folding. In the graphic below, you see the progression of protein folding. It starts with an amino acid (i.e., letters), which are put together to create a string of amino acids, also known as the protein’s primary structure. This string of amino acids is then organized into an alpha helix or a pleated sheet (i.e., words) to create the protein’s secondary structure. Finally, the helix or sheet is folded into what is known as the tertiary structure (i.e., sentences). This is an essential biological step that allows proteins to carry out their natural process.

So with that rudimentary analogy, let’s bring it back to amyloid. The word amyloid simply refers to a protein folding pattern, meaning when proteins fold, they fold into an amyloid orientation. Instead of being folded into their proper orientation (i.e., tertiary structure), they are misfolded into an amyloid pattern.

To date, scientists have discovered 37 human proteins that are capable of forming amyloid, and each of these proteins is associated with a disease it can lead to.

In the world of amyloidosis, two common forms are ATTR and AL amyloidosis. These diseases are classified by the precursor proteins that form amyloid. In the case of ATTR amyloidosis, TTR (transthyretin protein) is the amyloid-forming culprit. In AL amyloidosis, immunoglobulin (also known as antibodies) light chain fragments form amyloid.

But as mentioned earlier, amyloid can lead to diseases other than amyloidosis. Probably one of the most well known is Alzheimer’s disease. Alzheimer’s is associated with the amyloid precursor protein that forms from the β amyloid peptide. Other well-known diseases, such as Parkinson’s and Huntington’s disease, are also associated with amyloid. In Parkinson’s disease, the α-synuclein protein forms amyloid, whereas, in Huntington’s disease, Huntingtin exon 1 forms amyloid. Each is a distinct disease, but commonly involves the folding of an associated protein into amyloid. Even a specific type of prostate cancer results when Proteins S100A8/A9 form amyloid.

It’s a term I never entirely understood, so I hope this short article clears a few things up!

References:

https://en.wikipedia.org/wiki/Amyloid

https://www.ptglab.com/news/blog/the-complexity-of-proteins/

Cardiac Amyloidosis: Look to the Wrist for an Early Diagnostic Clue

Tissue samples from carpal tunnel surgery hold screening utility

According to the Cleveland Clinic, tenosynovial tissue biopsy at the time of carpal tunnel surgery can be a useful tool for detecting cardiac amyloidosis at an earlier stage, suggests a recent Cleveland Clinic study in the Journal of the American College of Cardiology (JACC) (2018;72:2040-2050).

“We found that 1 in 10 older patients who underwent carpal tunnel release surgery for idiopathic carpal tunnel syndrome had either ATTR [transthyretin] or AL [light chain] amyloidosis in a sample of patients who had tenosynovial tissue removed,” says Cleveland Clinic cardiologist Mazen Hanna, MD, the study’s primary investigator. “This may be an early marker or precursor of amyloid heart disease.”

An accompanying editorial in JACC (2018;72:2051-2053) calls the investigation “a well-conducted pilot study that should be seen as a justification for larger screening efforts.”

Better defining the amyloid/carpal tunnel connection

The study was prompted by recognition that, despite the classic association of amyloidosis with carpal tunnel syndrome, the frequency of cardiac involvement at the time of carpal tunnel release surgery had never been established.

“The index patient that got us thinking about this project was operated on by Cleveland Clinic orthopaedic surgeon William Seitz, MD, a key collaborator on the study, who noted thickened tenosynovial tissue and astutely asked for a Congo red stain,” Dr. Hanna explains. “In the wake of that, we decided to undertake this study to determine the prevalence and type of amyloid deposits in carpal tunnel surgery patients and assess for cardiac involvement.”

So Drs. Hanna and Seitz, together with colleagues from Cleveland Clinic’s Heart & Vascular and Orthopaedic & Rheumatologic Institutes, ended up prospectively studying consecutive men aged 50 or older and women aged 60 or older undergoing carpal tunnel release surgery at Cleveland Clinic over a one-year period. They stained samples of tenosynovial tissue from all patients; those with confirmed amyloid deposits were typed with mass spectrometry and the patients underwent cardiac evaluation consisting of electrocardiography, echocardiography with longitudinal strain, technetium pyrophosphate scintigraphy and blood tests for biomarkers.

Findings prompt therapy initiation in three patients

Of the 98 patients enrolled, 10 (10.2 percent) had a positive biopsy for amyloid — seven ATTR, two AL and one untyped. Two of these patients were diagnosed with hereditary ATTR, two were determined to have cardiac involvement (one AL, one ATTR wild-type) and three were started on pharmacologic therapy.

Notably, patients with ATTR demonstrated no difference in plasma transthyretin concentration or tetramer kinetic stability, which indicates that these measures likely cannot serve to detect cardiac amyloidosis on their own.

Low-cost method of early detection

“Amyloid cardiomyopathy is an underrecognized cause of heart failure with preserved ejection fraction,” Dr. Hanna observes. “We believe that screening patients for amyloidosis when they have carpal tunnel surgery can be an inexpensive way to diagnose cardiac involvement early and help avert progressive heart failure.”

This is particularly true, he notes, with the advent of the first effective therapies for cardiac amyloidosis, which recently have rendered the condition medically treatable for the first time.

“The early recognition made possible by tenosynovial tissue biopsy is critical, since current treatment strategies suppress the production of precursor protein or prevent protein misfolding but do not directly target current amyloid deposits,” Dr. Hanna explains. “This allows for implementation of disease-modifying therapy prior to development of cardiac symptoms.”

He adds that the detection of AL in two of the 10 patients with biopsy-diagnosed amyloidosis is especially notable since AL cardiac amyloidosis tends to progress more rapidly and has a poor prognosis once cardiac involvement advances.

Time for a screening algorithm

Dr. Hanna and his colleagues are continuing to follow up the study cohort to observe and report additional noteworthy findings. In the meantime, these initial results, together with emerging data related to soft tissue amyloidosis, have prompted implementation of a new screening algorithm at Cleveland Clinic.

The algorithm, available as a supplementary online figure to the JACC study report, guides hand surgeons on the appropriateness of tenosynovial biopsy at the time of carpal tunnel release surgery. If Congo red staining is positive, typing with mass spectrometry and referral to an amyloidosis specialist is indicated.

The authors of the accompanying JACC editorial note that while the best screening methodology remains to be determined, “a screening algorithm will likely be incorporated into everyday clinical practice in the near future.”

While our amyloidosis patient presentations have always been in-person, whether in class or over lunch, during this unusual time surrounding the COVID-19 pandemic we are offering two excellent virtual alternatives, each accompanied by a presentation by one of our advisors. These virtual packages have already been shared with hundreds of medical students across the country and have been well received.

1a) Live webinar. Hosted by the medical school on their platform, our patient speaker provides a live presentation of their journey with this disease, from symptoms through diagnosis and treatment, and life today, followed by real-time Q&A. Typically one hour in length, we are very flexible and work with the school’s desired date and time.

1b) Pre-taped patient video presentation. Jessica, one of our patient speakers, shares her journey with cardiac AL amyloidosis with medical students at the University of Colorado School of Medicine. She takes the audience through her early symptoms, diagnosis, treatment, and her “new normal” life today, offering her perspective as a patient with a rare disease. Her emotional and compelling story is about 30 minutes long, followed by 10 minutes of Q&A from the students.

PLUS

2) Clinical PDF on Diagnosing Amyloidosis. An excellent powerpoint presentation “Diagnosing Amyloidosis: From Cardiology to Neurology” by Dr. J. Mark Sloan from Boston University’s Amyloidosis Center, including patient and pathology pictures, and clinical diagnostic information.

We believe, and feedback confirms, these virtual packages are a compelling alternative to in-person that advances students’ knowledge of amyloidosis while sharing valuable insights from both the patient and clinical perspectives. These virtual packages can be customized to focus on other types of amyloidosis, organ involvement, and expert medical presentation topics to meet specific audience interests.

If interested in learning more, please contact us at asb.mm713@gmail.com.

During this global pandemic, our hearts, prayers, and gratitude are with everyone to stay safe, particularly those on the front line, first-responders, and essential workers. These are unusual times, and we see all of you as heroes amongst us. Thank you.

At the Amyloidosis Speakers Bureau (ASB) we have spent a good deal of time reacting, assessing, and pivoting to a new normal during the pandemic. Here are the highlights for Spring 2020.

EXECUTIVE SUMMARY

February 1st was our one year anniversary since launch. We are proud of all we have accomplished in such a short period of time, and are deeply committed to the long haul. Our operational infrastructure is in place and can devote the majority of our time to school outreach, presentation arrangements and speaker management/support.

The year 2020 got off to a fast start, beginning as early as January 9. We had a steady flow of presentations through end-February, and then COVID-19 hit and quickly brought the world to its knees. Everyone has been affected, and we are no different. Presentations, whether virtual or in-person, have all but dried up for now, and we anticipate a burst of activity once normalcy returns.

In response to the crisis, we rolled out a virtual presentation package as an alternative to in-person presentations. The heart of our virtual presentation package is a full-length patient presentation video. Accompanying the video is a powerpoint presentation from our educational library on diagnosing amyloidosis, authored by one of our respected amyloidosis expert advisors. Our agility in being able to quickly assemble a package enabled us to provide needed online content for schools during this time, accomplish our goal of educating students, and allow our speakers to still make an impact. Early feedback indicates our virtual presentation package is well received.

Our goal for 2020 is to do 60 presentations. With only 19 thus far (9 in-person and 10 virtual), and all activity has gone dormant for an undetermined amount of time, it is hard to say where we will end the year.

We have added in-depth guidance for new speakers in the development of their presentation outline and rehearsal training for their delivery. This helps speakers gain more confidence and skill development, and strengthen the quality of our presentations for the audience.

In May we will be doing our next mailing to the medical school deans, updating them on our new virtual presentation offering and what schools we have been to. The last mailing was October, 2019.

We have launched a bi-monthly/quarterly mailing to medical students interested in receiving more information on amyloidosis. Content is pulled from experts and other trusted organizations with the intention to offer brief insights into the disease from the medical perspective. While the list is small and growing slowly, these are students that truly want to know more, so we are delighted to keep this disease front of mind for them.

Since inception, the ASB has conducted 41 in-person and virtual presentations, with our educational materials reaching over 9,650 medical students!

COVID-19

All of our presentations since March were cancelled, as the schools moved to online teaching and ceased in-person gatherings. All have indicated they will be happy to put us back on the calendar once normalcy returns, but of course, none of us know when that will be. Below we highlight our actions and a few things we have learned along the way.

– Acknowledged that this was indeed a crisis with momentum. We saw this as a fast-moving global health crisis first, and a shift in ‘way of working’ second.

– Prioritized our attention. Our focus was our patient speakers, developing an alternative to in-person, and the schools where we had presentations on the calendar. At a later date we would communicate with advisors, key donors and grantors, and the rest of the schools.

– Communicate, communicate and communicate. We reached out to speakers to share our concern of the situation and intention to never put them at risk. In addition, we offered to reimburse them for any outstanding expenses incurred, even for cancelled presentations, so as to not have any negative financial impact.

– Found a new ‘way of working,’ and fast. We weren’t sure what the schools’ preference would be for an in-person alternative, so we came up with two that were based on resources readily available: a pre-recorded patient speaker presentation and a live webinar (we would find those speakers with this kind of technology experience already). We also selected one powerpoint presentation from our educational library and offered that as an additional element – one that specifically focused on diagnosing all major types of amyloidosis.

– Was nimble and willing to adjust. Every school where we had a presentation scheduled switched to online learning, and every one of them chose the pre-recorded patient speaker presentation + powerpoint. Two schools with further out dates are considering the live webinar.

In the end, schools were happy as we could quickly provide easy-to-implement online content. We were happy as education about the disease was still happening. Our speakers were happy as they remained safe, yet knew they were still making a difference. Win-win-win. When we come out of this we will revert to in-person presentations, which we believe are the most powerful, but we will more aggressively build our patient speaker video library, know/train selected speakers on video conferencing for live presentations, and keep current our expert educational library, as we have learned these are valuable building blocks for alternatives that we can tap into with ease for different situations.

THE NUMBERS

We have had 19 presentations thus far in 2020. Combined with 22 in the Fall, that brings our 2019-2020 school year presentations up to 41. Here is a representative list of names.
- Central Michigan University College of Medicine
- Cleveland Clinic Lerner College of Medicine
- Columbia University Vagelos College of Physicians and Surgeons
- Florida State University College of Medicine
- Icahn School of Medicine at Mt. Sinai
- Loyola University Chicago Stritch School of Medicine
- Mayo Clinic Alix School of Medicine, Rochester
- Mayo Clinic Alix School of Medicine, Scottsdale
- Northwestern University Feinberg School of Medicine
- NYU Grossman School of Medicine
- Quinnipiac University Frank H Netter MD School of Medicine
- Stanford University School of Medicine
- Tufts University School of Medicine
- University of Arizona College of Medicine, Phoenix
- University of Arizona College of Medicine, Tucson
- University of Colorado School of Medicine
- University of Connecticut School of Medicine
- University of Florida College of Medicine
- University of Illinois College of Medicine, Chicago
- University of Illinois College of Medicine, Peoria
- University of Illinois College of Medicine, Rockford
- University of Iowa Carver School of Medicine
- University of Kansas School of Medicine, Wichita
- University of Minnesota Medical School
- University of Toledo School of Medicine
- UNLV School of Medicine
- Virginia Commonwealth University School of Medicine
- Wayne State University School of Medicine
- Wright State University Boonshoft School of Medicine
Approximately ⅓ of the presentations are within a course curriculum class, with the remainder to student interest groups.
Per the organizers, the outreach in 2020 for our presentations went to over 5,400 students, bringing the school year total to over 9,650 students receiving our information.
An additional 7 schools have expressed an intention to have a speaker present; however, at this time we anticipate that they will either accept our virtual presentation offering or defer an in-person presentation until the 2020-2021 school year.
Our goal for 2019 was to do 15 presentations; that was accomplished.
Our goal for 2020 is to do 60 presentations. With only 19 thus far, and activity gone dormant for an undetermined amount of time, it is hard to say if we will achieve our goal. We hope so.
Our universe of U.S. medical schools and student interest groups totals around 230, and where we can find contact information, we have reached out to 100% of the groups. We have an ongoing outreach and, with each push, we increase our connections.
- Overall, we have connected with 60% of these groups; here’s how it then breaks down.
  - 35% have presentations made, or are in the queue
  - 11% have interest and are considering
  - 25% have passed our information on
  - 3% have deferred until next year
  - 9% have indicated their curriculum is full, so no interest
  - 17% have said they have no interest

SPEAKERS

The cornerstone of our effort is our group of wonderful patient speakers, who passionately volunteer their time to give back and share their stories of life with amyloidosis.

On average, we have between 40 and 50 active speakers. Periodically, a speaker’s health may change and they may step back either temporarily, or permanently, depending on their situation. To counter this, we are fortunate to have a steady pipeline of new speaker interest, which we spend time screening, qualifying and training. At present, we feel this is an appropriate number of speakers for our current and anticipated growth. We have a diversified breakdown of speakers — by geography across the continental U.S., by amyloidosis type, by organ involvement, by gender and age. This enables us to match speakers with audiences, if and when appropriate.

One area we have added resources to is training and presentation development for our speakers. Thanks to one of our speaker volunteers who has extensive experience, we now offer in-depth guidance for new speakers in the development of their presentation outline and rehearsal training for their delivery. For those partaking, it has been an appreciated additional level of support.

ADVISORS

Kevin Anderson, M.D.

Kelsey Barrell, M.D.

John L. Berk, M.D.

Raymond L. Comenzo, M.D.

Angela Dispenzieri, M.D.

Rodney H. Falk, M.D.

Muriel Finkel

Rafael Fonseca, M.D.

Morie A. Gertz, M.D.

Martha Grogan, M.D.

James E. Hoffman, M.D.

Craig C. Hofmeister, M.D., MPH

Gordon S. Huggins, M.D.

Scott D. Jerome, D.O.

Taxiarchis Kourelis, M.D.

Tibor Kovacsovics, M.D.

Jane E. Kramer, M.D.

Heather J. Landau, M.D.

Suzanne Lentzsch, M.D., Ph.D.

Nelson Leung, M.D.

Edward N. Libby, M.D.

Michaela Liedtke, M.D.

Isabelle Lousada

Mathew S. Maurer, M.D.

Jose Nativi-Nicolau, M.D.

Mary O’Donnell

Maria M. Picken, M.D., Ph.D.

Marina Ramirez-Alvarado, Ph.D.

Cara Rosenbaum, M.D.

Michael Alan Rosenzweig, M.D., M.S.

Frederick L. Ruberg, M.D.

Vaishali Sanchorawala, M.D.

Brett W. Sperry, M.D.

Stephen B. Strum, M.D.

Janice F. Wiesman, M.D., FAAN

Jeffrey Zonder, M.D.

STUDENT TESTIMONIALS – OUR TRUE REPORT CARD

Feedback from students and medical school organizers has been extraordinarily positive. It reinforces to us that the patient stories are a valuable complement to the medical school curriculum, strengthening the learning and deepening the durability for these future doctors about this disease. This is exactly why we do what we do. Here are some of their words from Spring 2020.

This was wonderful! Thank you for your time. It is very helpful to hear about how this sometimes esoteric disease presents from an individual patient’s perspective. It helped to put a face to the confusing disease we read only briefly about in our medical textbooks. Diana Lopez, MD Candidate, Cleveland Clinic Lerner College of Medicine

This session is a great reminder of why I chose to be a doctor. Seeing the patient’s struggles gave us a new perspective on a disease that we see throughout the year. Miranda Rose Ricart, MD Candidate, Florida International University School of Medicine

Such a powerful presentation that I will carry with me throughout my whole career, no matter what specialty I go into! I not only learned the importance of keeping amyloidosis on my differential, but also the importance of really listening to your patients and working through the hard diagnoses together. Solana Archuleta, MD Candidate, University of Colorado School of Medicine

I had several students make comments after the conclusion of the presentation that it was the best, one even said ‘exceptional,’ presentation given at our school from a patient. The materials gave all of the students, including myself, a great introduction to some of the pertinent findings in patients with amyloidosis. Co-President of the Internal Medicine Interest Group, University of Arizona College of Medicine, Phoenix

It was great to hear a patient’s perspective to condense the knowledge we learn into a real-life memory. It was also great just to meet someone who clearly had a passion for life. Ghalib Shaikh, MD Candidate, University of Connecticut School of Medicine

Hearing Ed talking about his journey with Amyloidosis was an incredible experience that only further inspired me to want to be a better physician for my future patients. It is one thing to learn about a condition in the classroom, but hearing the real-world struggles with it from another human being provides a whole new perspective. Ed was open about his journey and shared his feelings during each step, giving us insight into what it is like to be a patient with Amyloidosis. I will take what I learned from this presentation and apply it in order to ensure that patients I see in the future do not have to deal with the same issues that Ed had to deal with. Gurkaran Singh, MD Candidate, University of Arizona College of Medicine, Tucson

Diseases such as amyloidosis are often managed by specialists, but it is important for primary care physicians to recognize these signs and direct these patients to these specialists. Increasing awareness of these diseases among all physicians will help patients reach an answer sooner and can have a significant impact on their lives. Yue Zhang, MD Candidate, Northwestern Feinberg School of Medicine

We are energized from all we have accomplished thus far, know we have much ahead, and hope we have made our amyloidosis community proud.

Stay safe and take care,

Mackenzie, Charolotte, and Deb

Operating Committee of the Amyloidosis Speakers Bureau, sponsored by Mackenzie’s Mission

For more information, visit www.mm713.org/speakers-bureau/

Most of the symptoms and signs of AL amyloidosis are non-specific and usually caused by a number of other common conditions. But a few rare complaints are very suggestive of a diagnosis of AL amyloidosis. Bruising of the skin around the eyes is one of these. This is known as periorbital purpura in medical terminology, and may also be referred to as raccoon eyes or panda eyes.

Although less than 15% of patients with AL amyloidosis experience this problem, it is hardly ever caused by anything else, so it should certainly prompt doctors to investigate the possibility of AL amyloidosis.

Periorbital purpura is dark, usually appears quite suddenly, and is quite different from the common phenomenon of shadows under the eyes. The appearance is usually that of quite severe bruising. Sometimes the bruising fades or even disappears during or after chemotherapy treatment, but this may take months. Some patients with AL amyloidosis also experience easy bruising in other parts of the body. Any rubbing of the skin can cause these to appear and they may then fade. However the bruising round the eyes usually lasts for much longer. It does not cause any pain or irritation and is only a cosmetic issue.

It is quite often the trigger for a doctor to check for the possibility of amyloidosis.

Source: National Amyloidosis Centre

In celebration of Amyloidosis Awareness Month, we share our FACES of Amyloidosis 2020.

Each person in this video is affected by amyloidosis. Each is on their own journey and wants the world to know that this disease isn’t so rare, and as time passes there is more and more hope.

Amyloidosis is a rare and incurable disease, affecting people in different ways. As a result, this often slows the diagnosis time, during which the disease continues to advance. Accurate diagnosis as to the type of amyloidosis is critical, as it directly determines the path of treatment. Timely diagnosis can also impact the trajectory of survival.

Amyloidosis knows no boundaries. Powerful words from two amyloidosis survivors …

Amyloidosis does not discriminate. It will take the young, the old, male, female and all races and socioeconomic levels. — Jill J.

Amyloidosis is a master of disguises. — Robin H.

A huge thank you to those that participated, for they are the true warriors.

The focus to find answers, improved treatments, and a cure is stronger than ever, and the initiatives to raise awareness are better than ever.

We will never give up.

A special thank you to Andra Day. Her song “Rise Up” and amazing voice brought these FACES to life.

NORD (National Organization for Rare Disorders) is the official U.S. sponsor of Rare Disease Day®, which occurs on the last day of February each year. On Rare Disease Day, millions of patients and their families around the world share their stories to promote awareness of the challenges, hopes, and needs of those living with rare diseases.

There has been great progress in rare disease research, in big part thanks to the advocacy work of the rare disease patient community. Patients are participating in research and, in some cases, they have taken the reins themselves to fund their own research. For example, I have participated in several clinical trials and surveys.

The number of raising awareness initiatives are also increasing. Patients and caregivers, foundations, and physicians are participating in a myriad of initiatives to spread awareness. We, too, are involved to make an impact.

Last February Mackenzie’s Mission launched the Amyloidosis Speakers Bureau (ASB), an initiative we believe so important it is the cornerstone of our raising awareness efforts.

THE CHALLENGE

Amyloidosis is considered a rare disease and is not well known. However, there is a belief within the medical community that this disease is not rare, it is underdiagnosed or diagnosed when it is too late to make a difference. The complexity of this disease makes diagnosis one of the biggest challenges affecting patient lives. It is not uncommon to hear from patients that it took multiple years and multiple doctors to ultimately arrive at a correct diagnosis, all the while the disease continued to progress. Until a cure is found, it is imperative to raise awareness within the medical community so that diagnosis can be determined much sooner, enabling effective treatments and therapies to slow the disease progression and improve patient survival.

WHAT WE ARE DOING ABOUT IT

The ASB is an initiative focused on educating the medical community, specifically the next generation of doctors during their first/second year of medical school, about this disease through presentations from amyloidosis patients, an educational video, and expert-curated library of excellent presentations. The medical school curriculum includes an introduction to diseases, although we know the typical education about amyloidosis is minimal, making this the appropriate target audience. In addition, at this point medical students have yet to declare their specialty, thus the ASB can educate future doctors of a wide array of disciplines (e.g., cardiology, ENT, hematology, hepatology, nephrology, neurology, oncology, orthopedics). This is important because amyloidosis has many variations (e.g., AL, AA, ATTR) which present themselves in a variety of ways.

There are over 170 medical schools across the country, each with classes of medical students that typically range from 50 to 250. Every year there is a new class of students for us to inform and educate. So the ultimate goal is staggering. We are super proud that so far in our inaugural year, the ASB has presented to 35 schools and reached over 7,500 students!!

You, too, can support Rare Disease Day and get involved. If you are a patient, perhaps become an ASB speaker. Or, hold a fundraiser where you donate proceeds to your favorite amyloidosis organization. There is much all of us can do.

Thank you for your support,

Mackenzie

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ASB: 2020 Year-End Review

Spinal Stenosis & Amyloidosis