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Proteinuria & Amyloidosis

According to the Cleveland Clinic, “Proteinuria is due to increased levels of protein in the urine.” Your kidneys filter waste products from your blood while retaining what your body needs — including proteins. However, some diseases and conditions allow proteins to pass through the filters of your kidneys, causing protein in the urine.

 

HOW DOES PROTEIN GET INTO URINE? (1)

Protein gets into the urine if the kidneys aren’t working properly. Normally, glomeruli, which are tiny loops of capillaries (blood vessels) in the kidneys, filter waste products and excess water from the blood.

Glomeruli pass these substances, but not larger proteins and blood cells, into the urine. If smaller proteins sneak through the glomeruli, tubules (long, thin, hollow tubes in the kidneys) recapture those proteins and keep them in the body.

However, if the glomeruli or tubules are damaged, if there is a problem with the reabsorption process of the proteins, or if there is an excessive protein load, the proteins will flow into the urine.

 

WHAT ARE THE SYMPTOMS OF PROTEINURIA? (2)

Often, someone with proteinuria doesn’t experience symptoms, especially if kidneys are just beginning to have problems. However, if proteinuria is advanced, symptoms can include:

  • More frequent urination
  • Shortness of breath
  • Tiredness
  • Nausea and vomiting
  • Swelling in the face, belly, feet or ankles
  • Lack of appetite
  • Muscle cramping at night
  • Puffiness around the eyes, especially in the morning
  • Foamy or bubbly urine

Conditions that can cause a temporary rise in the levels of protein in urine, but don’t necessarily indicate kidney damage, include:

  • Dehydration
  • Emotional stress
  • Exposure to extreme cold
  • Fever
  • Strenuous exercise

However, according to the Mayo Clinic (2), there are diseases and conditions that can cause persistently elevated levels of protein in urine, which might indicate kidney disease, such as:

TESTING FOR PROTEINURIA

The only way to know if you have protein in your urine, an established marker for chronic kidney disease, is to have a urine test.

“Integral to the process of evaluating for proteinuria is quantification of the total amount of protein spilling into the urine. The various methods to detect proteinuria include urine dipstick and sulfosalicyclic acid test (SSA); quantification methods include the ratio of albumin or protein to creatinine (UACR or UPCR) and the 24-hour urine protein collection.

The gold standard for quantification of proteinuria is the 24-hour urine collection. The test is performed by voiding upon waking and then collecting all urine on subsequent voids until the first void of the next day.“ (11)

In a retrospective study (5), researchers evaluated data from 265 patients with systemic AL amyloidosis who visited the Amyloidosis Center at Boston University Medical Center between July 1, 2018, and Jan. 1, 2020. This study examined the correlation between 24-hour urine testing and [urine protein-to-creatinine ratio] UPCR at various proteinuria levels in patients with AL amyloidosis. All patients underwent proteinuria measurement by 24-hour collection and UPCR in the same day. According to Andrea Havasi, MD, “In summary, although 24-hour urine collection is cumbersome, we continue to recommend it in patients with AL amyloidosis and kidney involvement.

 

CONCLUSION (12)

Amyloidosis can be a life-threatening disease because it can cause progressive organ damage and irreversible failure. Although it may affect any organ, one of the most frequently involved organs is the kidney, and clinically evident renal disease occurs in about 50-80% of cases. Typical manifestations of renal involvement are proteinuria, nephrotic syndrome (i.e., concomitant proteinuria, hypoalbuminemia, and peripheral edema), renal insufficiency, and end-stage renal disease (ESRD) requiring hemodialysis. All forms of systemic amyloidosis can lead to renal involvement. AL amyloidosis induces proteinuria and renal insufficiency in up to 73% and 50% of cases, respectively. ATTR amyloidosis typically does not involve the kidneys, but it can induce proteinuria and ESRD in some patients.

 

Therefore, when you have a patient with proteinuria, investigate why and don’t assume a benign origin. There are many serious causes, one of which may be amyloidosis.

 

Stay curious.

 

 

 

======== References  =========

  1. https://my.clevelandclinic.org/health/diseases/16428-proteinuria
  2. https://my.clevelandclinic.org/health/diseases/16428-proteinuria
  3. https://www.mayoclinic.org/symptoms/protein-in-urine/basics/causes/sym-20050656
  4. https://www.kidneyfund.org/kidney-disease/kidney-problems/protein-in-urine.html
  5. https://www.kidney.org/atoz/content/proteinuriawyska
  6. https://www.healio.com/news/nephrology/20220209/researchers-regard-24hour-proteinuria-collection-best-for-amyloid-light-chain-amyloidosis
  7. https://medlineplus.gov/lab-tests/albumin-blood-test/#:~:text=Albumin%20is%20a%20protein%20made,and%20enzymes%20throughout%20your%20body.
  8. https://www.kidney.org/content/kidney-failure-risk-factor-urine-albumin-to-creatinine-ration-uacr
  9. https://www.hopkinsmedicine.org/health/treatment-tests-and-therapies/24hour-urine-collection#:~:text=A%2024%2Dhour%20urine%20collection%20is%20a%20simple%20lab%20test,is%20returned%20to%20the%20lab
  10. https://www.kidneyfund.org/all-about-kidneys/tests-for-kidney-disease/urine-tests
  11. https://www.mdedge.com/clinicianreviews/article/210146/nephrology/proteinuria-and-albuminuria-whats-difference
  12. https://emedicine.medscape.com/article/238158-workup
  13. Talamo G, Mir Muhammad A, Pandey MK, Zhu J, Creer MH, Malysz J. Estimation of Daily Proteinuria in Patients with Amyloidosis by Using the Protein-To-Creatinine ratio in Random Urine Samples. Rare Tumors. 2015 Feb 18;7(1):5686. doi: 10.4081/rt.2015.5686. PMID: 25918613; PMCID: PMC4387359.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4387359/#:~:text=AL%20amyloidosis%20induces%20proteinuria%20and,50%25%20of%20cases%2C%20respectively.&text=ATTR%20amyloidosis%20typically%20does%20not,and%20ESRD%20in%20some%20patients

 

 

Amyloidosis Speakers Bureau (ASB)

The content of medical education is appropriately clinically centered. The delivery of this content remains relatively unchanged over the decades – typically taught by medical professionals through lectures, PowerPoint presentations, and patient case studies. We posit that there is an essential missing component: the patient voice. During the didactic years, medical students rarely hear from patients about their symptoms, diagnostic journey, emotional management, support and resources, and relationship with the medical community. These insights can offer impactful and durable education that complements traditional didactics in developing future medical practitioners.

Why is this important? Lack of awareness in the healthcare field is among the most critical and urgent challenges facing the amyloidosis community today. Raising awareness to accelerate diagnosis, coupled with available FDA-approved treatments, leads to a significant improvement in patient lives. 

At the Amyloidosis Speakers Bureau, two years ago we set out to understand whether our patient educators were making an impact following a presentation to U.S. medical students. Would their narratives elevate the students’ understanding of this rare disease and influence their attitudes and behavioral intent regarding patients?

In short, our study findings indicated “yes.”   Click HERE to read the peer reviewed published study.

The paper finds that, in a study where medical students were randomly assigned to either listen to an amyloidosis patient’s story or to a control group, those who heard the patient’s diagnostic and treatment journey differed in attitudes and intent from those in the control group. Those who heard the patient’s story were significantly more likely to intend to improve their communication with patients, learn more about amyloidosis, and agree that listening to patients is a vital part of diagnosis. 

 

 

With great appreciation we thank Dr. Adebanke Adebayo, Dr. Katherine Rowan, and Dr. Vaishali Sanchorawala for their important contribution to this paper. We would also like to thank the many ASB patient educators who contributed to this study and continue to give their time to raise awareness to the medical community through sharing their personal journeys. We could not have done this study without any of these wonderful individuals!



FACES of Amyloidosis 2023

In celebration of Amyloidosis Awareness Month, we are excited to share our FACES of Amyloidosis 2023.

Each person in this video is affected by amyloidosis. Wanting to put a face with this disease, they also want you to know they embrace the challenge and fight for living life.

Amyloidosis is a rare and incurable disease, affecting people in different ways. It’s complexity and nature of symptoms often delays the time to diagnosis, during which the disease continues to advance. Timely diagnosis impacts the trajectory of survival and today is arguably the biggest challenge patients face, especially with more and more effective treatments available.

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

The push to raise awareness is intensifying.

The fight to find a cure is ON.

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

 

Carpal Tunnel & Amyloidosis – An Update

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

———————————————————-

Resources:

  1. https://pubmed.ncbi.nlm.nih.gov/35469694/
  2. https://consultqd.clevelandclinic.org/cardiac-amyloidosis-look-to-the-wrist-for-an-early-diagnostic-clue/
  3. https://www.sciencedirect.com/science/article/pii/S0735109718381634?via%3Dihub
  4. https://www.orthoarlington.com/contents/patient-info/conditions-procedures/11-astounding-carpal-tunnel-statistics
  5. https://www.verywellhealth.com/open-surgery-or-endoscopic-carpal-tunnel-surgery-4083069
  6. https://mailchi.mp/ea0a0bb441eb/carpal-tunnel-amyloidosis

ASB: 2021 Year-End Review

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

 

THE POWER OF THE PATIENT/PHYSICIAN COLLABORATION

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.

FACES of Amyloidosis 2020

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.

 

 

Rare Disease Day 2020

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

FACES of Amyloidosis 2018

Each person in this video is affected by amyloidosis. Each has their own story to tell the world, which begins, but doesn’t end, here.

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.

Amyloidosis knows no boundaries. In the words of Jill Johnson, the last face in the video, “… amyloidosis does not discriminate. It will take the young, the old, male, female and all races and socioeconomic levels.”

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

The push to raise awareness is intensifying.

The fight to find a cure is ON.

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

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