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We are super proud to have presented the story about the Amyloidosis Speakers Bureau at last week’s International Symposium on Amyloidosis (ISA) in Heidelberg, Germany.

Ours was not the typical presentation at such a prestigious global medical conference, but our message “PATIENTS ARE POWERFUL EDUCATORS” was seemingly super well received. Afterwards we heard words such as “transformative” and “brilliant” … opening minds about the impact that patients can bring to raise awareness. Hopefully, there will be good actions to come from this! Meanwhile, we press on to educate U.S. medical students and residents.

THE PANEL INCLUDED (Thank you to Alexion Pharmaceuticals for sponsoring our panel):

– Professor JULIAN GILLMORE and Professor ASHUTOSH WECHALEKAR from the National Amyloidosis Centre, UCL – University College of London, UK
– Professor GIOVANNI PALLADINI, Director of the Amyloidosis Research and Treatment Center at the University Hospital San Matteo in Pavia, Italy
– DR. VAISHALI SANCHORAWALA, Director of Amyloidosis Center at Boston University
– DR. RODNEY FALK, Director of the Cardiac Amyloidosis Program at Brigham and Women’s Hospital (BWH)

– DEBORAH BOEDICKER, Board Member at Mackenzie’s Mission and Operating Committee Member of the Amyloidosis Speakers Bureau
– KRISTEN HSU, Executive Director of Clinical Research at the Amyloidosis Research Consortium

We are proud of the work we collectively do at the ASB and the impact we are making. Now into our fourth academic year, we have given over 200 presentations to more than 9,600 medical students and residents!

Our speakers, and their willingness to share their authentic story, are the cornerstone of this powerful educational initiative.

With endless appreciation for your support and engagement,

Deb Boedicker

Drugs are the lifeblood of patient treatments, and the development of new drugs is critical. Overseen by the FDA (U.S. Food and Drug Administration), they define a drug as “any product that is intended for use in the diagnosis, cure mitigation, treatment, or prevention of disease; and that is intended to affect the structure or any function of the body.”

The FDA’s Center for Drug Evaluation and Research (CDER): “The center’s evaluation not only prevents quackery, but also provides doctors and patients the information they need to use medicines wisely. CDER ensures that drugs, both brand-name and generic, are effective and their health benefits outweigh their known risks.”

There are several phases (comprising twelve steps) of the FDA drug development and approval process, depicted in a two-page graphic here, and described below.

PRE-CLINICAL RESEARCH

This is the drug sponsor’s discovery and screening phase, comprising two steps.

The Start. The sponsor develops a new drug compound and seeks to have it approved by the FDA for sale in the U.S.

Step 1: Animals Tested. The sponsor must test the new drug on animals for toxicity. Multiple species are used to gather basic information on the safety and efficacy of the compound being investigated/researched.

Step 2: IND Application. The sponsor submits an Investigational New Drug (IND) application to the FDA based on the results from initial testing that includes the drug’s composition and manufacturing, and develops a plan for testing the drug on humans (aka a clinical trial).

The FDA reviews the IND to assure that the proposed studies, generally referred to as clinical trials, do not place human subjects at unreasonable risk of harm. The FDA also verifies that there are adequate informed consent and human subject protection.

CLINICAL

This phase is all about the clinical trial, all of which must be approved by the FDA before they can begin. In an earlier blog – Clinical Trials 101 – we offer an expanded discussion along multiple facets regarding clinical trials which you may find informative.

According to the National Institutes of Health (NIH), clinical trials are research studies performed on people that are aimed at evaluating a medical, surgical, or behavioral intervention. Clinical trials are the primary way that researchers find out if a new treatment, like a new drug or medical device (e.g., a pacemaker) is safe and effective in people. Often a clinical trial is used to learn if a new treatment is more effective and/or has less harmful side effects than the standard treatment. Other clinical trials test ways to find a disease early, sometimes before there are symptoms. Still, others test ways to prevent a health problem before it begins. A clinical trial may also look at how to make life better for people living with a life-threatening disease or a chronic health problem.

Clinical trials are comprised of four phases to test a treatment, find appropriate dosages, and detect side effects. If following the completion of the first three phases, researchers find the drug or intervention to be safe and effective, the FDA approves it for clinical use and continues to monitor its effects. The fourth phase continues post-FDA approval. Overall, the duration of a clinical trial spans years.

Step 3: Phase I Trial. A Phase I trial tests an experimental treatment on a small group of often healthy people (20 to 80 in number) to judge its safety and side effects and to find the correct drug dosage.

Step 4: Phase 2 Trial. A Phase II trial uses more people (100 to 300 in number). While the emphasis in Phase I is on safety, the emphasis in Phase II is on effectiveness. This phase aims to obtain preliminary data on whether the drug works in people who have a certain disease or condition. These trials also continue to study safety, including short-term side effects. This phase can last several years.

Step 5: Phase 3 Trial. A Phase III trial gathers more information about safety and effectiveness, studying different populations and different dosages, using the drug in combination with other drugs. The number of subjects usually ranges from several hundred to about 3,000 people. If the FDA agrees that the trial results are positive, it will approve the experimental drug or device.

NDA (NEW DRUG APPLICATION) REVIEW

This phase covers the FDA’s New Drug Application (NDA) review.

Step 6: Review Meeting. The FDA meets with the sponsor prior to submission of the NDA.

Step 7: NDA Application. The sponsor formally asks the FDA to approve a drug for marketing in the United States by submitting an NDA. An NDA includes all animal and human data and analyses of the data, as well as information about how the drug behaves in the body and how it is manufactured.

Steps 8-9: Application Reviewed. After an NDA is received, the FDA has 60 days to decide whether to file it so it can be reviewed. If the FDA files the NDA, the FDA Review Team is assigned to evaluate the sponsor’s research on the drug’s safety and effectiveness.

Step 10: Drug Labeling. The FDA reviews the drug’s professional labeling and assures appropriate information is communicated to health care professionals and consumers.

Step 11: Facility Inspection. The FDA inspects the facilities where the drug will be manufactured.

Step 12: Drug Approval. The FDA reviews will approve the application or issue a response letter.

POST-MARKETING RISK ASSESSMENTS

Phase IV clinical trial for drugs or devices takes place after the FDA approves their use. A device or drug’s effectiveness and safety are monitored in large, diverse populations, where the sponsor is required to submit periodic safety updates to the FDA. Sometimes, the side effects of a drug may not become clear until more people have taken it over a longer period of time.

WHO REVIEWS NEW DRUG SUBMISSIONS?

A team of CDER physicians, statisticians, chemists, pharmacologists, and other scientists review the drug sponsor’s data and proposed labeling of drugs.

WHAT OTHER DRUG PRODUCTS ARE REGULATED BY THE FDA?

Drugs include more than just medicines. For example, fluoride toothpastes, antiperspirants (not deodorant), dandruff shampoos, and sunscreens are all considered drugs.

CONCLUSION

FDA approval of a drug means that data on the drug’s effects have been reviewed by CDER, and the drug is determined to provide benefits that outweigh its known and potential risks for the intended population.

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SOURCE

National Institutes of Health

U.S. Food and Drug Administration

Drugs.com

The connection between carpal tunnel and amyloidosis is one that is already established. In fact, carpal tunnel syndrome is one of many potential symptoms of amyloidosis, but it is a symptom that tends to present early. It is not uncommon to hear patients started experiencing carpal tunnel five to ten years before they were diagnosed with amyloidosis.

TWO STUDIES

Clinicians are becoming aware of this connection and are starting to investigate the connection. Two studies have been published that investigate the connection between carpal tunnel and amyloidosis.

The first study from 2018 was a “prospective, cross-sectional, multidisciplinary study of consecutive men age ≥ 50 years and women ≥ 60 years undergoing carpal tunnel release surgery. Biopsy specimens of tenosynovial tissue were obtained and stained with Congo red.”³ Of the patients that were eligible for Congo red staining (n=98), a total of 10 came back positive for amyloidosis.³ That is a hit rate of just over 10%.

In a larger second study from 2022, a total of 185 patients underwent carpal tunnel release surgery, where 54 biopsies confirmed evidence of amyloidosis with Congo red staining.¹ That is a hit rate of 29%.

The results of these studies are powerful and provide an opportunity to change the trajectory of diagnosing amyloidosis, particularly doing so much earlier. According to the Bureau of Labor and Statistics and the National Institute for Occupational Safety and Health, carpal tunnel release surgery is the second most common type of surgery, performed over 230,000 times every year.⁴

PERSPECTIVE FROM AN ORTHOPEDIC SURGEON

“Since carpal tunnel syndrome is often one of the earliest signs of underlying amyloidosis, those with undiagnosed disease could greatly benefit from tissue biopsies at the time of surgery. A positive biopsy result could initiate the road to disease stabilization and hopefully future cures, avoiding the all-too-often rapid decline of health before final recognition. Bringing the surgeon into the arena of amyloidosis diagnosis and care broadens the net for catching this disease early and prepares the surgeon as a team-player for future medical support.”

Charles Williams Sr., MD

Retired Orthopedic Surgeon

CONCLUSION

Screening for amyloidosis in carpal tunnel release surgery can be a low-cost method of detecting amyloidosis that should be considered.²

Most importantly, identifying and diagnosing amyloidosis early has the potential to significantly improve patient outcomes and substantially alter the course of disease.

Truly life changing.

P.S. Click here to read our previous post on Carpal Tunnel & Amyloidosis

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Resources:

Over the course of the past two months, we spent time discussing two of the most common hallmark symptoms of ATTR amyloidosis: cardiomyopathy and peripheral neuropathy. In this article, we’ll briefly recap both hallmark symptoms as well as bring it all together by discussing the two most common forms of ATTR amyloidosis: ATTR cardiomyopathy (ATTR-CM) and ATTR peripheral neuropathy (ATTR-PN).

To recap …

Cardiomyopathy

Cardiomyopathy is a broad term that is used to describe disease of the heart muscle, making it difficult for the heart to provide the body with an adequate blood supply. It is a common cause of sudden cardiac arrest and sudden cardiac death, which can lead to heart failure and even death.

Types of Cardiomyopathy:

Dilated Cardiomyopathy → dilation of the left ventricle prevents the heart from pumping effectively
Hypertrophic Cardiomyopathy → abnormal thickening of the heart muscle most commonly surrounding the left ventricle
Restrictive Cardiomyopathy → stiffening of the heart muscle results in an inelasticity
Arrhythmogenic Right Ventricular Dysplasia → scar tissue replaces healthy tissue of the right ventricle
Unclassified Cardiomyopathy → all other forms of cardiomyopathy fall within this category

Peripheral Neuropathy

Peripheral neuropathy, also referred to as polyneuropathy, is a very broad term used to describe damage of the peripheral nerves. Damage to these nerves most commonly causes numbness, pain, and weakness but can affect other areas of the body including, but not limited to, circulation, digestion, and urination.

Types of Neuropathy:

Motor Neuropathy → damage to the motor nerves
Sensory Neuropathy → damage to sensory nerves
Autonomic Nerve Neuropathy → damage to autonomic nerves that control involuntary functions
Combination Neuropathies → damage to a mix of 2 or 3 of these other types of neuropathies

ATTR Amyloidosis

The origin of this disease can be genetic (hATTR) or non-genetic, or “wild-type” (wtATTR). Regardless, in ATTR amyloidosis, the transthyretin (TTR) protein is misfolded and aggregates, forming amyloid fibers that deposit into tissues and organs. The deposition of protein causes organ dysfunction and can even cause organ failure and death.

ATTR-CM and ATTR-PN

Depending on the location of protein deposition, the disease is referred to in different ways. For instance, when the primary location of amyloid deposit is in the heart, the disease is referred to as ATTR cardiomyopathy (ATTR-CM). On the other hand, when the primary location of amyloid deposit is in the nerves, the disease is referred to as ATTR peripheral neuropathy (ATTR-PN).

ATTR-CM impairs the heart’s ability to pump effectively. A major challenge surrounding this disease is that symptoms of ATTR-CM are often similar to other heart conditions like enlarged heart and heart failure. This makes diagnosing the disease increasingly more difficult. Individuals with hATTR typically present symptoms in their 50s and 60s, whereas those with wtATTR may not present symptoms until their 70s and later.

Common Symptoms of ATTR-CM:

Fatigue
Swelling of legs, ankle, or abdomen
Shortness of breath with activity
Orthostatic hypotension
Difficulty breathing when lying down
Arrhythmia

ATTR-PN impairs the function of the nervous system. While amyloid most commonly builds up in the peripheral nervous system, deposition can also occur in the autonomous system. This results in a diversity of symptoms that are specific to the site of amyloid deposition. Symptom presentation is much more diverse, occurring as early as the 20s, or as late in life as the 70s.

Common Symptoms of ATTR-PN:

Carpal tunnel syndrome
Diarrhea and/or constipation
Nausea, vomiting
Loss of appetite
Sexual dysfunction
Muscle weakness
Eye problems
Orthostatic hypotension

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References:

https://www.pfizer.com/news/articles/understanding_this_rare_disease_called_attr_amyloidosis

https://www.mayoclinic.org/diseases-conditions/cardiomyopathy/symptoms-causes/syc-20370709

https://www.yourheartsmessage.com

https://healthjade.net/familial-amyloidosis/

https://my.clevelandclinic.org/health/diseases/14737-neuropathy

https://www.hopkinsmedicine.org/health/conditions-and-diseases/peripheral-neuropathy

https://www.mayoclinic.org/diseases-conditions/peripheral-neuropathy/symptoms-causes/syc-20352061

https://practicalneurology.com/articles/2021-july-aug/neuromuscular-amyloidosis

https://healthjade.net/familial-amyloidosis/

Alnylam Announces FDA Approval of AMVUTTRA™ (vutrisiran), an RNAi Therapeutic for the Treatment of the Polyneuropathy of Hereditary Transthyretin-Mediated Amyloidosis in Adults

– First and Only FDA-approved Treatment Demonstrating Reversal in Neuropathy Impairment with Subcutaneous Administration Once Every Three Months

– AMVUTTRA Met Primary and All Secondary Endpoints, with Significant Improvement in Polyneuropathy, Quality of Life and Gait Speed Relative to External Placebo

– Company Expects to Launch in Early July, with Value-Based Agreements to Accelerate Access

The FDA approval is based on positive 9-month results from the HELIOS-A Phase 3 study, where AMVUTTRA significantly improved the signs and symptoms of polyneuropathy, with more than 50 percent of patients experiencing halting or reversal of their disease manifestations.

Following yesterday’s U.S. FDA approval, people in the U.S. prescribed AMVUTTRA (vutrisiran) and their families can now enroll in Alnylam Assist, our patient support services program, to receive help accessing this new therapy. https://bit.ly/3HjOg5Q

PRESS RELEASE

According to Alnylam Pharmaceuticals, “Americans of Portuguese descent are disproportionately impacted by hereditary ATTR (hATTR) amyloidosis, a rare, rapidly progressive, and debilitating disease affecting multiple organs and tissues. These individuals have a high prevalence of the V30M variant, which is the most common of the more than 120 gene variants known to be associated with hATTR amyloidosis. The V30M variant is associated with nerve symptoms of numbness, tingling, and burning pain in hands and feet. People of Portuguese descent who develop the disease experience earlier onset symptoms, with 87 percent experiencing symptoms before age 40.

Watch this informative news segment featuring Dr. Anthony Geraci, a neurologist who specializes in managing hATTR amyloidosis. He is joined by Julio, who was diagnosed with the disease a few years ago, and his daughter and caregiver Renee. Together they explore the experience of living with this rare, genetic disease.”

The good news is there are FDA-approved treatments and clinical trials which may be helpful; however, the key is to get diagnosed as early as possible.

If you have been diagnosed with a rare disease I’m sure that at some point you have met a nurse or doctor who has never heard of your condition. Some flat out say “what’s that?!” Some side eye you while they quickly google it on their phone. One nurse said to me once “Wow! If this was a teaching hospital everyone would want to come to see you.” Gee thanks. Way to make a girl feel special. Now I don’t blame them for this. Doctors and nurses have a very stressful and essential job and we would be lost without them. But they are human. And no one can be an expert in every condition or disease that exists. It’s impossible.

Which is why it’s a good idea to be an active member of your health care team and advocate for yourself to ensure your needs are being met.

Seven Ways to be an Active Member of Your Health Care Team

Don’t take no for an answer! This is particularly important when you are searching for an elusive diagnosis. Don’t let them push you away or try to tell you that your symptoms are all in your head because they can’t figure you out. Trust your instincts. If you know something is wrong, go back again and again until they take you seriously. Get a second opinion. Don’t give up!
Seek out experts. Once you have that diagnosis, do some research. Find the best specialists near you and ask to be referred to them. Ask your doctors, hit the internet, join a support group and reach out to others who have your disease. Ask around and find the experts! They are the ones you should put your trust in.
Educate yourself. Don’t just go crazy with Google, as information in the public domain may be outdated. Ask your doctor for reputable sources of information. Join a support group, find others like you and learn from them. You can gain a wealth of knowledge from people who are living with your disease. Educating yourself is an important part of your healthcare.
Ask questions! Why do I need this medication? What are the side effects? What do we do if I get those side effects? What happens if I don’t take this medication? Go through the risks and benefits of medications and treatments with your doctors. Don’t be afraid to ask questions. Your doctors want you to make informed decisions.
Ask your expert before taking any medications or supplements. If you end up in the emergency room or a walk-in clinic, if time permits, run any suggestions for medications by your expert. Doctors who don’t have extensive knowledge of your rare disease may not know all of the potential complications and interactions. And don’t take any type of supplement or over the counter medication without first getting approval from your specialists. I love natural medicine, but it needs to be treated with the same respect and caution as any other medication. Natural does not equal safe.
Organize your info and carry it with you. It can advocate for you if you’re not able to. I have a little folder which contains my official diagnosis report, a list of treatments I’ve had, a list of current medications, and the names and numbers of all my specialists. It comes along if I have to head to the emergency room.
Speak up if you are suffering. I think sometimes we push through our suffering assuming that it’s just part of the process. But it may be as simple as adjusting the dosage or adding in another medication. So, if you are having a new or worsening symptom or a side effect from a medication, let your health care team know. There may be something they can do to help.

You are the most important member of your health care team. So, speak up when something is wrong, ask questions, learn as much as you can, and find the specialists that you can put your trust in. Self-advocacy can be a powerful force in your health care journey.

Lori Grover is a guest blogger for Mackenzie’s Mission. She was diagnosed with AL Amyloidosis in 2016 and writes to share experiences and lessons learned during her journey. More wonderful blogs by Lori can be found on her page Amyloid Assassin. When not writing, she is mostly a stay at home mom, florist, crafter, lover of books and food.

We are super grateful for our growing list of supporters, many of whom are becoming repeating donors (which of course, we love), investing in our effort from year to year. THANK YOU for supporting Mackenzie’s Mission and the Amyloidosis Speakers Bureau, as without your support we could not have achieved new highs.

HOW DID WE DO IN 2021?

This was our fourth full year of operation, busy and loaded with lots of activities to advance our mission — to make a difference in the fight against Amyloidosis. Operationally, we continued to run extremely efficient and lean, and laser-focused on making a difference in two ways.

Raising awareness about Amyloidosis, which we believe can lead to earlier diagnosis and better outcomes for patients.
Supporting medical research on Amyloidosis, seeking the cause of the disease and more effective treatments to improve and extend lives.

RAISING AWARENESS

Amyloidosis Speakers Bureau (ASB): You may recall that back in February 2019 we launched the Amyloidosis Speakers Bureau as the cornerstone of our raising awareness effort.

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 a diagnosis can be determined much sooner, enabling effective treatments and therapies to slow the disease progression and improve patient survival.

Our response to this crisis is the Amyloidosis Speakers Bureau (ASB), an initiative focused on educating the medical community about this disease through presentations from amyloidosis patients, an educational video from medical experts, and our monthly educational updates. Our target audience is the next generation of doctors during their first/second year of medical school, as well as residency programs for physicians launching their medical career. Of special note, we are super excited about our 2021 expansion beyond medical students to educate internal medicine residents – those new physicians beginning their career seeing patients and developing diagnostic skills. To enhance our offering for these physicians, with the help of our medical advisors we created specialized educational videos about this disease.

During 2021, we saw presentations return to pre-pandemic levels, but they remained nearly 100% virtual. With our target set at 60 presentations, we were pleased to close the year at 61 presentations to more than 2,400 medical students and resident physicians. Yay! You can read more in our ASB: 2021 Year-End Review. I hope you will take a few minutes to read the review and learn about our wonderful progress!

ASB Effectiveness and Impact Study: We have long been interested in understanding the effectiveness and impact of the Amyloidosis Speakers Bureau. With the valuable assistance from one of our speakers, Dr. Kathy Rowan, along with a Ph.D. student, we launched a pilot study in the spring 2021. The data from over 300 responses was astounding and compelling… enough to lead us to launch a formal study this fall. We are appreciative to have Dr. Vaishali Sanchorawala of Boston University serving as an expert medical advisor to our study. In 2022 we anticipate analyzing the data collected and, if informative, writing a paper and seeking publication. We are hopeful that indeed, our study will validate the power and impact from patient stories to the educational and clinical work of medical professionals.

ASB Briefs: After every presentation we invite medical students interested in continuing to learn about amyloidosis to join our ASB Briefs mailing list. Today, that list numbers over 350! Each month we send a brief discussion about some aspect of the disease with a growing library of links to informative presentations / videos by medical experts, and announcements regarding advancements in treatment. The intention is to keep amyloidosis more front-of-mind and educate on the many facets of this complex and multi-systemic disease.

Blogs: We publish periodic blogs on our website about amyloidosis on topics such as symptoms, diagnosis, treatment, expert updates, resources, and caregiver support.

Webinars: In exploring other ways to offer insightful education to our target audiences, we held our first special webinar. Attendees heard Dr. Rodney H. Falk and his patient Sean Riley (one of our ASB speakers) discuss the importance of patient/physician collaboration in diagnosis, using Sean’s personal journey to illustrate the challenges of diagnosing hereditary amyloidosis, a life-threatening rare disease that hides in plain sight. Attendees also heard Dr. Falk’s thoughts on how listening, observing, and questioning are critical to getting to a diagnosis, along with his recommendation for providers to always bring an elevated suspicion and curiosity to find answers. Here’s a link to the replay in case you’d like to view: The Power of the Patient/Physician Collaboration

A second webinar coming out of a medical school presentation focused on Wild-Type Amyloidosis. Students heard world-renowned expert Dr. Mathew S. Maurer and his patient John Basdavanos discuss John’s medical journey. Dr. Maurer provided a brief overview of Wild-Type Amyloidosis (ATTRwt), while John provided the patient perspective. Together, these insights offered a compelling story about battling a life threatening disease. Here’s a link to the replay in case you’d like to view: Wild-Type Amyloidosis – A World-Renowned Physician & His Patient

Mailings, Social Media & Miscellaneous: We spread this information across our platform which includes:

our website, visited by over 11,500 people in 2021
our mailing lists, with 1,375 subscribers
our Facebook page, with over 1,225 followers
our YouTube channel with 130 subscribers and 3,745 views of our videos in 2021

With hopes to help our communities, we co-sponsored a two-part Comfort Workshop with notable leader Jen Marr, founder of Inspiring Comfort. During the workshop, Jen, author of Paws to Comfort, shared highlights of her book, educating participants with tools and strategies for helping those around us, and ourselves, and how to comfort and connect during these challenging times.

SUPPORTING MEDICAL RESEARCH

As we have said over and over, nothing happens in research without money. And knowing the NIH currently funds only 11% of its applications, this leaves a heavy burden on private foundations and individuals to help close the shortfall gap. So, our work to raise money matters.

Monies we send to research institutions are derived from two sources: general donations to Mackenzie’s Mission and proceeds from our Play FORE The Cure charity golf tournament. This year we were thrilled to return to hosting the event, providing players with a fun 24-player Presidents Cup format, with two teams of twelve competing for the title. We’re proud to say the event this year raised over $185,000, bringing our cumulative total raise from three Play FORE The Cure tournaments to over $520,000!

To help advance medical research, a significant percentage of our monies raised was donated to four world-class research institutions.

Mayo Clinic’s Amyloidosis Research Fund
Boston University’s Amyloid Research Fund
Tufts Medical Center’s Amyloid and Myeloma Research Fund
Scripps Research’s Kelly Lab (Dr. Jeffery Kelly)

WHAT ARE OUR GOALS FOR 2022?

In short, keep doing what we are doing, but do more of it.

Raising Awareness

Focus our energies on the Amyloidosis Speakers Bureau (ASB), expanding our medical school outreach. This is where we believe we can make the biggest impact from our efforts. Engagement from the amyloidosis patient community, securing meaningful grants, and proceeds from donations/fundraisers will be key to complement the operational and legal infrastructure required.
Complete our data collection and analyze the responses of our ASB Effectiveness and Impact Study. If meaningful, develop a paper to submit for publication.
Publish educational blogs to the growing medical student mailing list, as well as to our broad mailing list and website.
Explore additional opportunities, both large and small, which enable us to further spread the word on the importance of early diagnosis.

Supporting Medical Research

Donate a meaningful percentage of our general donations and charity golf tournament proceeds to leading research institutions whom we know are working to advance the knowledge and find answers about this disease.

WITH MUCH APPRECIATION AND GRATITUDE

You may have donated cash or securities, played in our charity Play FORE The Cure charity golf tournament, participated in one of our raising awareness campaigns, or given us a grant to support our Amyloidosis Speakers Bureau medical education initiative. You may have been an Amyloidosis Speakers Bureau speaker, liked/shared our Facebook posts, or taken the time to read our blogs to learn about amyloidosis. Whether you did one of these or many, you helped us push forward our fight against this disease and we appreciate your support.

We also want to extend a special thank you to our volunteers who passionately and graciously devote their time and expertise. Whether to help at our charity golf tournament, or one of many facets of the Amyloidosis Speakers Bureau (e.g., speaker development, running Zoom presentations, researching contacts, writing ASB Briefs, leading the charge for our ASB impact study, professionalizing our videos, and running our webinars), we can’t begin to accomplish all we have without them. Thank you!

I am encouraged by the impact Mackenzie’s Mission is already making after just a few short years. Connecting with the amyloidosis community and working together to make an impact is extremely rewarding. There is much work to be done, but with so much help from the community and our supporters I know we can win this fight!

With warm regards for a wonderful and hopeful 2022,

Mackenzie

AN UPDATE ON ME

This past year I devoted my time largely to Mackenzie’s Mission and the work of the Amyloidosis Speakers Bureau. Outside of the foundation, I work as a clinical technician at a local hospital, gaining valuable hands-on patient experience. Happily, I have been accepted into the Physician Assistant program at Northeastern University, and I can’t wait to return to my alma mater and Boston in the fall of 2022. In spite of COVID, I was able to spend a week in Iceland, taking in their breathtaking landscape and beautiful country. As for my disease, I am on a regimen that keeps my disease under control, and I continue to feel great.

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.” In addition, you’ll read below about our exciting expansion into residency programs – those new physicians now practicing and diagnosing patients. As a result, we are confident our efforts will provide a valuable enriched exposure to this disease to augment the medical school curriculum and residency didactic programs.

EXECUTIVE SUMMARY

Last year, we set our 2021 goal at 60 presentations, with hopes that the year would emerge from the 2020 pandemic onset. For the most part, it did. We gave 34 presentations in the Spring, and 27 presentations this Fall. Combined, these 61 presentations were to more than 2,400 medical students and physicians! Go us!

Of the 61 presentations, 59 were virtual and 2 were in-person. Of note, both of the in-person were to our newly launched residency program outreach. Schools, with students returning to in-person in the Fall, remained largely closed to guests. Looking ahead we anticipate seeing a few more in-person, but virtual is likely here to remain in a big way for the foreseeable future.

Our recent expansion into internal medicine residency programs (over 550 of them across the U.S.) has already resulted in 6 presentations on the calendar for 2021 and 2022. Our custom video specifically focused for this audience has been very well received and provides an excellent clinical educational complement to our patient stories.

We average around 35-40 speakers, which allows for diversity in our speaker population’s disease state and flexibility in their availability. This has served us well. (more on that below)

We are particularly delighted that our medical school student mailing list – those interested post-presentation in continuing to receive information about amyloidosis – continues to grow and is now around 350! Each month we email brief information about some aspect of amyloidosis, with the content pulled from experts and other trusted organizations. Our goal is to keep amyloidosis in their mind as they approach graduation and begin seeing patients.

In October we held our first webinar, “Discover the Power of the Patient/Physician Collaboration” with guests Dr. Rodney Falk and hereditary ATTR patient Sean Riley. We ourselves were very pleased with the discussion and insights, although the attendance fell short of expectations for medical student turnout.

With the help of one of our speakers Dr. Kathy Rowan, a professor in social science, we received approval from George Mason University’s IRB (Institutional Review Board) in August and launched a study to understand the impact and effectiveness of our educational offering to medical students. At present, we are in data collection mode and anticipate in 2022 we will transition to analysis of the data. If the conclusions are insightful, we intend to seek publication.

Each Spring and Fall we reach out to medical school deans, updating them on our activities.

THE NUMBERS

Our target universe is approximately 160 continental U.S.-based medical schools – both their curriculums and student interest groups, and over 580 internal medicine residency programs.
We gave 61 presentations in 2021, and have 13 already booked for 2022.
Since the ASB started in the Fall of 2019, we now total 153 presentations, to approximately 6,900 students and physicians. A complete list of schools and resident programs can be found below.
Of the 2021 presentations, roughly 20% of the presentations were within the curriculum; 75% to student interest groups, and 5% to residency programs.

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.

Our speaker group is 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). Also, helpful in rotating speakers and types of disease at each school, since we are regularly returning to groups which have overlapping students. And necessary in that periodically, a speaker’s personal situation may change and they need to step back either temporarily, or permanently. We are delighted that our group is fairly stable and increasingly seasoned and experienced in sharing their stories. That said, we are fortunate to have a steady pipeline of new speaker interest, which we spend time screening, qualifying and training to bring online – only if needed (so it’s rare we add new speakers these days). At present, we feel this is an appropriate number of speakers for our current and anticipated growth.

Thanks to two of our speakers who have extensive experience, we offer in-depth guidance for new speakers, and current speakers wanting a ‘refresh’ in the development of their presentation outline and rehearsal training for their delivery. In addition, prior to most virtual presentations we rehearse and test the new 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.

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/

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.

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

We are saddened that we lost our co-founder Charolotte Raymond earlier this year, losing her battle with AL amyloidosis. Charolotte was our true inspiration for the Amyloidosis Speakers Bureau, and we know her passion for educating future physicians will be our guiding light. To keep our patient-led focus, we were thrilled to have one of our speakers, Lane Abernathy, join our Operating Committee. Lane, an amyloidosis patient herself, brings wonderful energy, experience and passion to help manage our efforts. We feel thankful to have her with us.

An additional word about our growing list of passionate volunteers, the majority of whom are active speakers. They help our efforts across many aspects of our operations, from management, to speaker development, to research, and video production. Their dedication to our effort is a testament of their belief in what we are doing to educate areas of the medical community, and we thank them all.

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. After all, we can’t do any of this without you! As always, we welcome any comments you may have.

Stay safe, happy holidays to you and your family, and all the best for a new 2022!

Mackenzie, Lane, and Deb

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

Our initiative is being well received by medical schools across the country. Below is a list of schools we have presented to at least once a year, whether through their curriculum or interest groups. After that, is the growing list of internal medicine residency programs where we also have presented.

MEDICAL / D.O. SCHOOLS

Albert Einstein College of Medicine
Baylor College of Medicine
California University of Science & Medicine, School of Medicine, San Bernardino
Case Western Reserve School of Medicine
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 Mount Sinai
Lake Erie College of Osteopathic Medicine
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
Touro College of Osteopathic Medicine in New York City
Tufts University School of Medicine
University of Arizona College of Medicine, Phoenix
University of Arizona College of Medicine, Tucson
University of California Irvine School of Medicine
University of California San Francisco School of Medicine
University of Central Florida College of Medicine
University of Chicago Pritzker School of Medicine
University of Cincinnati College of Medicine
University of Colorado School of Medicine
University of Connecticut School of Medicine
University of Florida College of Medicine
University of Hawaii, John A. Burns School 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

RESIDENCY PROGRAMS

Central Maine Medical Center
Meharry Medical College Program
Michigan State University Program, Sparrow Hospital
St. Francis Medical Center Program, Jersey Shore University Medical Center
Texas Institute for Graduate Medical Education and Research (TIGMER) Laredo Internal Medicine Residency Program
Western Michigan University Homer Stryker M.D. School of Medicine

In this unique webinar, you will hear Dr. Rodney H. Falk and his patient Sean Riley discuss the importance of patient/physician collaboration in diagnosis, using Sean’s personal journey to illustrate the challenges of diagnosing hereditary amyloidosis, a life-threatening rare disease that hides in plain sight.

Hear how listening, observing, and questioning are critical to getting to a diagnosis, along with the recommendation for providers to always bring an elevated suspicion and curiosity to find answers.

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Slider

PRE-CLINICAL RESEARCH

CLINICAL

NDA (NEW DRUG APPLICATION) REVIEW

POST-MARKETING RISK ASSESSMENTS

WHO REVIEWS NEW DRUG SUBMISSIONS?

WHAT OTHER DRUG PRODUCTS ARE REGULATED BY THE FDA?

CONCLUSION

TWO STUDIES

PERSPECTIVE FROM AN ORTHOPEDIC SURGEON

CONCLUSION

Cardiomyopathy

Types of Cardiomyopathy:

Peripheral Neuropathy

Types of Neuropathy:

ATTR Amyloidosis

ATTR-CM and ATTR-PN

HOW DID WE DO IN 2021?

RAISING AWARENESS

SUPPORTING MEDICAL RESEARCH

WHAT ARE OUR GOALS FOR 2022?

Raising Awareness

Supporting Medical Research

WITH MUCH APPRECIATION AND GRATITUDE

AN UPDATE ON ME

EXECUTIVE SUMMARY

THE NUMBERS

SPEAKERS

ADVISORS

TESTIMONIALS – OUR TRUE REPORT CARD

MEDICAL / D.O. SCHOOLS

RESIDENCY PROGRAMS

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