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AL Amyloidosis vs Multiple Myeloma

In the AL amyloidosis community, multiple myeloma is often mentioned. Between 10% and 15% of people who have multiple myeloma develop AL amyloidosis.  In reality, while there are ample similarities where some view these diseases as “cousins,” there are important differences. Here we summarize these two rare blood diseases.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

CRISPR/Cas9 – Editing the Code of Life

AN UPDATE  …..  WOO HOO!!!

Well, the results of the preclinical studies were presented on June 26, 2021 and it is fantastic news for hereditary ATTR amyloidosis patients!!!

Preclinical studies showed durable knockout of TTR after a single dose. Serial assessments of safety during the first 28 days after infusion in patients revealed few adverse events, and those that did occur were mild in grade. Dose-dependent pharmacodynamic effects were observed. At day 28, the mean reduction from baseline in serum TTR protein concentration was 52% (range, 47 to 56) in the group that received a dose of 0.1 mg per kilogram and was 87% (range, 80 to 96) in the group that received a dose of 0.3 mg per kilogram.

CONCLUSIONS
In a small group of patients with hereditary ATTR amyloidosis with polyneuropathy, administration of NTLA-2001 was associated with only mild adverse events and led to decreases in serum TTR protein concentrations through targeted knockout of TTR. (Funded by Intellia Therapeutics and Regeneron Pharmaceuticals; ClinicalTrials.gov number, NCT04601051. opens in new tab.)

The New England Journal of Medicine
https://www.nejm.org/doi/full/10.1056/NEJMoa2107454


Our original blog post ….

 

The scientific world is abuzz … a Nobel Prize-winning technology called CRISPR/Cas9 can now edit our DNA. This programmable gene-editing technology, which is efficient, precise, and scalable, has inspired a gold rush of countless applications in medicine, agriculture and basic science. Early areas of focus include genetic diseases such as sickle cell and hereditary ATTR amyloidosis, offering new and exciting optimism.

Ground-Breaking Science in Gene Editing

“A genome is an organism’s complete set of DNA, including all of its genes. Each genome contains all of the information needed to build and maintain that organism. In humans, a copy of the entire genome – more than three billion DNA base pairs – is contained in all cells that have a nucleus.”  – Intellia Therapeutics

CRISPR, short for Clustered Regularly Interspaced Short Palindromic Repeats, is a microbial ‘immune system’ that prokaryotes — bacteria and archaea — use to prevent infection by viruses called phages. At its core, the CRISPR system gives prokaryotes the ability to recognize precise genetic sequences that match a phage or other invaders and target these sequences for destruction using specialized enzymes.

Previous work had identified these enzymes, known as CRISPR-associated proteins (Cas), including one called Cas9. But scientist Emmanuelle Charpentier, working first at the University of Vienna and later at the Umeå Centre for Microbial Research in Sweden, identified another key component of the CRISPR system, an RNA molecule that is involved in recognizing phage sequences, in the bacterium Streptococcus pyogenes, which can cause disease in humans.

Charpentier reported the discovery in 2011 and that year struck up a collaboration with American biochemist Jennifer Doudna. In a landmark 2012 paper in Science, the duo isolated the components of the CRISPR–Cas9 system, adapted them to function in the test tube and showed that the system could be programmed to cut specific sites in isolated DNA – an incredibly precise set of DNA-editing genetic scissors. In 2020, Doudna and Charpentier won the 2020 Nobel Prize in Chemistry for their gene-editing technology.

“The ability to cut DNA where you want has revolutionized the life sciences,” said Pernilla Wittung Stafshede, a biophysical chemist and member of the Nobel chemistry committee, at the prize announcement. “The ‘genetic scissors’ were discovered just eight years ago, but have already benefitted humankind greatly.”

 

How Does CRISPR/Cas9 Work? (3)

This technology acts as an incredibly precise set of molecular scissors, providing instructions to cut an identified gene in a specific position in the nucleus of DNA. There are two primary components to the CRISPR/Cas9 genome editing system:

  • The Cas9 protein, which initially recognizes the DNA and also acts like a pair of “molecular scissors” that precisely cleaves the targeted DNA sequence.
  • The guide RNA, which guides the Cas9 scissors to the desired target DNA sequence and activates the scissors so they cut.

https://www.intelliatx.com/crisprcas9/how-crisprcas9-works/

Background on Hereditary Transthyretin Amyloidosis (hATTR/ATTRv) (1)

Transthyretin amyloidosis is a slowly progressive condition characterized by the buildup of abnormal deposits of a protein called amyloid (amyloidosis) in the body’s organs and tissues. These protein deposits most frequently occur in the peripheral nervous system, which is made up of nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound. Protein deposits in these nerves result in a loss of sensation in the extremities (peripheral neuropathy). The autonomic nervous system, which controls involuntary body functions such as blood pressure, heart rate, and digestion, may also be affected by amyloidosis. In some cases, the brain and spinal cord (central nervous system) are affected. Other areas of amyloidosis include the heart, kidneys, eyes, and gastrointestinal tract. The age at which symptoms begin to develop varies widely among individuals with this condition, and is typically between ages 20 and 70.

There are three major forms of transthyretin amyloidosis, which are distinguished by their symptoms and the body systems they affect.

  1. The neuropathic form of transthyretin amyloidosis primarily affects the peripheral and autonomic nervous systems, resulting in peripheral neuropathy and difficulty controlling bodily functions.
  2. The leptomeningeal form of transthyretin amyloidosis primarily affects the central nervous system.
  3. The cardiac form of transthyretin amyloidosis affects the heart.

Mutations in the TTR gene causes the liver to product the TTR protein in a misfolded form. This misfolded protein can then build up in the body and lead to disease-causing nerve and other organ damage.

 

Clinical Trial Research (4)

According to CRISPRMedicineNews, one of the early clinical trials within gene editing is focused on hereditary transthyretin amyloidosis. In these trials, CRISPR-Cas is either used directly to treat the condition by editing an individual’s genome in vivo or indirectly through ex vivo engineering of a cell-based therapy. An update published November 17, 2020 discusses the clinical trial, which is now underway in the U.K.

CRISPR-Cas9 Trial For NTLA-2001 to Treat Hereditary Transthyretin Amyloidosis With Polyneuropathy

The second newly-added trial is sponsored by US-based Intellia Therapeutics and seeks to enroll 38 participants who are diagnosed with polyneuropathy (PN) due to transthyretin (TTR) amyloidosis (ATTR).

This open-label Phase 1 two-part trial comprises a dose escalation followed by a safety dose expansion study to evaluate the safety, tolerability, pharmacokinetics and pharmacodynamics of Intellia’s most advanced in vivo CRISPR-based therapy candidate, NTLA-2001.

ATTR is a hereditary progressive condition that is characterized by an accumulation of misfolded transthyretin (TTR) protein. The disease results from mutation(s) in the TTR gene, leading to mutant TRR protein that is unstable and easily forms aggregates that deposit as amyloid in various organs and tissues in the body. Organs or body parts most often affected include the nerves, heart, kidneys and eyes.

Life expectancy is typically 2-15 years from disease onset, and current treatment options include transplantation of affected organs and medications to slow progression of disease symptoms.

NTLA-2001 is the first investigative CRISPR-based therapy to be administered in vivo in humans. The new therapy comprises TTR-targeting gRNA and Cas9 mRNA, both of which are delivered in vivo via Intellia’s proprietary lipid nanoparticle technology. Pre-clinical studies support the notion that NTLA-2001 has potential as a one-time curative treatment. The first patient was dosed with NTLA-2001 last week and the study is expected to be completed in 2024.

Worldwide prevalence of spontaneous and hereditary transthyretin amyloidosis (ATTR). Source: Intellia Therapeutics. https://www.intelliatx.com/in-vivo-therapies/

 

Potential Game-Changer for Hereditary ATTR Amyloidosis

 “Once we’ve assessed safety and established an optimal dose, we intend to rapidly initiate trials for the clinical manifestations of ATTR. NTLA-2001 may halt and reverse ATTR progression by producing a deeper, permanent TTR protein reduction for all patients – regardless of disease type – than the chronically administered treatments currently available.” said Intellia Therapeutics President and CEO, John Leonard, M.D.

 Intellia’s proprietary CRISPR/Cas9 system could potentially address diseases with a single course of treatment because it permanently repairs the defective DNA. This represents a breakthrough improvement over current therapies, most of which require lifelong administration because they cannot correct underlying causes of the disease. However, this technology does not pass the genetic changes made to the patient to his or her offspring … the “fix” will not pass from generation to generation.

 

This is exciting news, giving new hope for families who have been ravaged by disease over generations.

 

 

 

 

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If you’d like to read more about Jennifer Doudna, here’s a book recently released by bestselling author Walter Isaacson, The Code Breaker.

 

Sources:

  1. https://crisprmedicinenews.com/clinical-trial/transthyretin-amyloidosis-attr-nct04601051/
  2. crisprmedicinenews.com
  3. https://www.intelliatx.com
  4. https://crisprmedicinenews.com/news/crispr-cas-clinical-trial-update/
  5. https://www.nature.com/articles/d41586-020-02765-9
  6. Doudna Lab, Berkeley, California
  7. CRISPR Therapeutics, Cambridge, Massachusetts
  8. Innovative Genomics Institute, Berkeley, California

 

1st FDA-Approved Drug for AL Amyloidosis

After decades of relying on treatments approved for other diseases, on January 15, 2021 the FDA approved the first drug for AL Amyloidosis. Truly a game-changing, monumental advancement in the treatment of this disease.

 

On January 15, 2021, the Food and Drug Administration granted accelerated approval to daratumumab plus hyaluronidase (Darzalex Faspro, Janssen Biotech Inc.) in combination with bortezomib, cyclophosphamide and dexamethasone (CyBorD) for newly diagnosed light chain (AL) amyloidosis. “AL amyloidosis is a devastating and potentially fatal blood disorder that, until now, did not have any U.S. FDA-approved therapies. This makes today’s approval of DARZALEX FASPRO a critical step forward for patients in the U.S. in dire need of treatment options,” said Jan van de Winkel, Ph.D., Chief Executive Officer of Genmab.

ABOUT AL AMYLOIDOSIS (1)

Amyloidosis is a disease that occurs when amyloid proteins, which are abnormal proteins, accumulate in tissues and organs. When the amyloid proteins cluster together, they form deposits that damage the tissues and organs. AL amyloidosis most frequently affects the heart, kidneys, liver, nervous system and digestive tract. Until now there were no approved therapies for AL amyloidosis in the U.S., though it is currently being treated with chemotherapy, dexamethasone, stem cell transplants and supportive therapies. It is estimated that there are approximately 3,000 to 4,000 new cases of AL amyloidosis diagnosed annually in the U.S.

CLINICAL TRIAL

Efficacy was evaluated in ANDROMEDA (NCT03201965), an open-label, randomized, active-controlled trial in 388 patients with newly diagnosed AL amyloidosis with measurable disease and at least one affected organ according to consensus criteria. Patients were randomized to receive bortezomib, cyclophosphamide, and dexamethasone (VCd arm) or with Darzalex Faspro (D-VCd arm).

The hematologic complete response (HemCR) rate based on established consensus response criteria as evaluated by an independent review committee was 42.1% for the D-VCd arm and 13.5% for the VCd arm (odds ratio=4.8; 95% CI: 2.9, 8.1; p<0.0001).

The prescribing information includes a Warnings and Precautions that serious or fatal cardiac adverse reactions occurred in patients with light chain (AL) amyloidosis who received Darzalex Faspro in combination with bortezomib, cyclophosphamide and dexamethasone. Darzalex Faspro is not indicated and is not recommended for the treatment of patients with light chain (AL) amyloidosis who have NYHA Class IIIB or Class IV cardiac disease or Mayo Stage IIIB outside of controlled clinical trials.

The most common adverse reactions (≥20%) in patients with light chain (AL) amyloidosis who received the D-VCd regimen are upper respiratory tract infection, diarrhea, peripheral edema, constipation peripheral sensory neuropathy, fatigue, nausea, insomnia, dyspnea and cough.

HOW DARZALEX FASPRO WORKS

Darzalex Faspro is an immunotherapy that works with your body to fight disease, preventing the abnormal plasma cells from creating excess light chains.

Darzalex Faspro is a subcutaneous injection, typically administered with several additional drugs intended to minimize reactions. Treatment usually begins with weekly injections for eight weeks, followed by bi-weekly injections for another eight weeks, and then monthly injections thereafter.

FDA APPROVAL

The FDA approved this application 7 weeks ahead of the FDA goal date. This application was granted accelerated approval based on response rate.

With FDA approval, this gives healthcare professionals even more ammunition in the treatment of amyloidosis, and should positively impact (i.e., reduce) complexities that patients often experienced in order to receive insurance company approval. Darzalex Faspro (daratumumab and hyaluronidase-fihj), approved for AL amyloidosis, now joins three other FDA-approved drugs for TTR amyloidosis  (Onpattro (patisiran), Tegsedi (inotersen) and Vyndamax (tafamidis)).

Progress!

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  1. Genmab announcement

Amyloidosis and Diet

While there is no special diet that will cure or treat Amyloidosis, both healthy eating and following doctor-recommended restrictions are essential. Guest blogger Lori Grover offers some tips on dealing with dietary changes.

 

According to Myeloma UK, eating a healthy diet increases energy levels, maintains muscle strength,  boosts your immune system and helps recovery after treatment. As you can see, making healthy choices makes sense. But easier said than done, right? Eating a healthy, balanced diet can be tricky for anyone. When your stress levels are high, and you feel horrible, making those necessary changes can be daunting. Because the disease affects everyone differently, your unique situation will determine the dietary suggestions that are made for you.

AL Amyloidosis can impact diet in a few ways.

  • Specific recommendations may be made as part of a plan to manage heart and kidney disease to prevent any further damage to organs
  • If kidneys are affected additional suggestions may be made to keep electrolytes in balance (especially if Dialysis is involved)
  • A low sodium diet and fluid restrictions may be suggested to combat edema
  • Certain foods or dietary supplements may be restricted because they interfere with medications
  • Dietary changes may be recommended to help deal with nausea, constipation, or diarrhea
  • A ‘clean diet’ may be advised if your white cell count is low (Avoidance of high-risk foods such as raw eggs, or shellfish)

 

Facing these dietary changes isn’t easy. Here are a few tips to ease the transition.

  • Look at it as a challenge.  Use it as an opportunity to try new foods, test out different cooking methods, and experiment with healthy recipes. Keep an open mind and try new things.
  • Focus on the foods you CAN eat rather than on the foods you can’t. Doctors and dieticians tend to give you lists of the foods you can no longer enjoy. While necessary, focusing on the things you can’t have can be depressing and overwhelming. Try to shift your focus and make a list of all safe foods and meals you can continue to enjoy. Having a go-to list on hand is useful when you’re feeling overwhelmed.
  • Create a collection of your favorite healthy recipes and try some new ones. Helpful websites to check out are Davita, Heart Foundation, and The Heart and Stroke Foundation. Experiment with new recipes and keep an open mind. If one fails, try, try again.
  • Meal plan, prep, and batch cook. Having ideas on hand makes mealtime easier. Some days you’ll have more energy than others. On those days, make extra and freeze and prep for other meals, so things will be all set for you when you’re feeling low.
  • Eat frequent, small meals throughout the day. Not only can it help if you’re feeling nauseous, but it also keeps you full and helps to avoid cravings. If you wait until you’re starving to eat, you’ll be more inclined to make bad decisions.

 

A low sodium diet may be recommended for both kidney and heart health.

Excess sodium in your diet contributes to fluid retention. Symptoms are swelling, puffiness, a rise in blood pressure, and shortness of breath (due to fluid around the lungs and/or heart).

The National Kidney Foundation recommends a maximum of 2300 mg of sodium per day and your doctor may recommend even less.

A balance must be struck to achieve an optimal sodium level for you, so follow your doctor’s recommendations carefully.  Limiting salt can be challenging, especially in the beginning, as your taste buds adjust. Keep at it and don’t give up…it will become your new normal.

 

Tips on dealing with a low sodium diet.

  • Avoid processed foods as much as possible. Read labels and choose lower-sodium varieties.
  • Eat whole foods and cook from scratch. Although it is more time consuming, cooking from scratch allows you to control the amount of salt.
  • Experiment with different spices and herbs to add flavour to your foods.
  • Add an acid when cooking, like a squeeze of lemon juice or vinegar to brighten flavours.
  • Pay attention to sauces, gravies, and salad dressings as they can contain a surprising amount of sodium
  • If potassium levels are a concern for you, be cautious with salt substitutes

 

A fluid-restricted diet may be advised to combat edema.

A common and severe side effect of AL Amyloidosis is fluid overload. This happens when you’re taking in more fluid than your kidneys can remove. A balance of restricting sodium and fluid, paired with diuretic medications, can help keep your fluid levels in check. In most cases, between 1.5-2 litres/ day of fluid is recommended.

Tips on dealing with fluid restriction

  • Fill a water bottle in the morning, and drink from it throughout the day to help you keep track of your water intake.
  • Keep a log (at least at the beginning) until you get an idea of how much fluid you are taking in, and don’t forget to include things like jello, watery fruit, and ice cream.
  • Plan to spread the fluid you drink throughout the day.
  • If dry mouth is a problem, ice chips, hard candies, and mouth rinses or sprays can help.

 

A low protein diet may be suggested to protect kidney health.

The goal is to strike a balance. While protein is necessary for growth and repair of your body, foods high in protein can add to the workload of the kidneys. When protein is digested, a waste product called urea is produced. If your kidneys are not functioning correctly, urea can build up in your bloodstream and cause further complications. For this reason, your doctor may suggest you limit your high protein foods.

Tips on dealing with a low protein diet:

  • Adjust the ratio of protein to vegetables in your recipes. Add more vegetables and starches to dishes such as soups and stews, to stretch it out and make it seem more substantial.
  • Think of vegetables and grains as the main dish, and protein as your side dish
  • Experiment with different types of protein, including plant-based options
  • Start a ‘meatless Monday’ as part of your routine, to test out vegetarian options

 

Specific foods and supplements may be limited.

  • You may have to cut out certain foods or supplements if they interact with the medications you are taking. For example, green tea and high dose Vitamin C can interfere with Bortezomib (Velcade) and make it less effective. Your doctor will give you a list of foods and supplements to avoid. Follow the recommendations carefully, and be sure to check with your medical team before adding any over the counter medications or supplements to your diet.
  • If your kidneys are affected, your levels of electrolytes and minerals will be closely monitored. Your kidney care team will make recommendations based on your levels. For example, you may have to avoid high potassium foods or those with high calcium levels.

 

There is no one size fits all diet for AL Amyloidosis. What is best for you will be decided based on your unique situation. Experts do agree that healthy eating has many benefits. And when you’re already facing so much, you want to do whatever you can to be your healthiest self.

The best take away tip I can give you is to keep an open mind and be ready to experiment. As you try new things and choose healthier options, you will adjust, and healthy eating will be your new normal.

For more tips on implementing these healthy changes check out our posts Tips & Recipes for Healthy Eating with Amyloidosis or our Treatment Survival Guide.

 

Resources

Myeloma UK handout                                                        The Heart Foundation

National Kidney Foundation

Heart and Stroke Foundation

Amyloidosis Foundation

Ted Rogers Heart Function

 

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.  Lori is a freelance copywriter, and a mom of two wonderful boys. She loves writing, reading, and all things crafty.

Support Groups: Can They Play A Role In Your Treatment?

Have you recently been diagnosed with Amyloidosis? Wondering if joining a support group, whether online or in person, would be right for you?

When I was diagnosed with AL Amyloidosis, I thought that it wouldn’t be for me. It took me over a year to join. I had a picture in my mind of what it would be like. I envisioned a group of people gathered together to complain about how sick they were. I was afraid to get a glimpse of my future. I pictured a giant pity party.

What I experienced was extremely different. These groups are full of survivors! They are handling this disease with the most positive attitude possible and are making the best of the hand they have been dealt. I have learned so much from these people.

In these groups, you will find people who have been where you are, recently diagnosed, scared, and overwhelmed. You will find people willing to share the tips and tricks that helped them face some of their darkest moments and most difficult times. You will find people to help support and encourage you through your journey.

To find out more about the role of the support group, I reached out to Muriel Finkel from the Amyloidosis Support Groups (ASG) and Marsha McWhinnie from the Canadian Amyloidosis Support Network (CASN).

 

WHO IS THE SUPPORT GROUP FOR?

Support groups are for patients with all types of Amyloidosis and their caregivers. Their websites are full of information and resources. Online support groups such as the Amyloidosis Support Groups on Facebook, CASN, Smart Patients, and One Amyloidosis Voice are private and require access permission by the administrators. Such security for access offers comfort for the participants to reveal more personal information. In person support groups provided by Amyloidosis Support Groups, CASN, and the Amyloidosis Foundation, offer additional services and support for patients, as well as access to expert medical professionals.

 

WHAT IS THE GOAL OF THE SUPPORT GROUP?

Support groups, in general, are concerned with awareness and education. Their goal is to educate and empower patients, promote awareness, support medical research, and to improve the quality of life for those with Amyloidosis.

 

WHAT SERVICES DO SUPPORT GROUPS PROVIDE?

  • Both ASG and CASN operate a toll – free number, the primary goal of which is to provide a compassionate, understanding ear to those recently diagnosed. If you have received this life-altering and scary diagnosis, this call can let you know you are not alone and that there is hope.
  • Their websites provide educational videos and articles, medical referrals, patient stories, links to Amyloidosis support resources, and lists of upcoming meetings.
  • Both groups host support group meetings, which provide an opportunity to meet other patients and caregivers. During these meetings, an Amyloidosis expert presents, and there is an opportunity to ask questions and share your story. The ASG hosts meetings throughout the United States and the CASN has meetings in Toronto and Quebec.
  • The Amyloidosis Support Group also holds a special meeting for ATTR in Chicago every two years, with the top experts in the country participating and presenting.
  • ASG sponsors multiple groups on Facebook so patients and caregivers can chat with each other, share stories, and ask questions. These groups are mediated by wonderful volunteers who are up to date with the latest treatments and advances in the field, with assistance from medical advisors. The groups on social media allow patients from all over the world to connect.
  • Smart Patients is an online forum with conversations among the amyloidosis community, with topics ranging the full gamut from symptoms to treatment.
  • A new online community was recently launched called ‘One Amyloidosis Voice,’ which has a message board, social wall, trusted resources, a news and meetings section, and a diagnosis educator.
  • Through online forums and participation in local events, Support Group administrators and volunteers spread the word about Amyloidosis, with the goal of increased awareness.
  • Both groups are interested in supporting medical research by sharing information about clinical trials with patients. Pharmaceutical reps are sometimes present at meetings to answer questions, and to help connect patients with trials that might be right for them.

 

WHAT A TYPICAL SUPPORT GROUP MEETING LOOKS LIKE

Although each meeting varies and ends up with a flow of its own, administrators do follow a basic outline which includes the following:

  • New Business – A discussion of what is new in the field of Amyloidosis and what the Support Group has been working on
  • Guest Speaker – An interactive presentation from an Amyloidosis expert (usually a doctor or other medical professional)
  • Question and Answer Period – Questions are encouraged, and one on one time with the presenter may be possible
  • Meal or snack is provided (depending on the timing of the meeting)

The atmosphere is laid back and comfortable, and patient confidentiality is paramount. It is absolutely your choice as to whether you share your story and ask questions.

 

BENEFITS OF THE SUPPORT GROUP

  • You hear inspiring stories which can provide comfort and hope for the future.
  • You are kept up to date with the treatments, clinical trials, and medical breakthroughs.
  • You can share your story with people who genuinely get it.
  • You can ask for help if you have questions. Facing symptoms and looking for relief? Concerned about a new symptom or side effect? Chances are there is someone in the support group who has faced it and can offer help and support.
  • You can find information on what to expect from treatment. There are people in these groups who have endured stem cell transplants, chemotherapy, and have participated in clinical trials. In some cases, patients have tried various types of treatments and can offer suggestions of what to expect, and how to deal with side effects.
  • You can also find information on the leading Amyloidosis Specialists and Centres of Excellence. Because Amyloidosis is such a rare disease, it is vital to get the experts on your team.
  • Need to vent? We do that too. Sometimes it just becomes too much. The weight of it all hits and you feel overwhelmed and lost. There’s someone here who can provide a listening ear.

I am so glad that I decided to join these support groups. Not only do I get to hear the inspiring stories of those who are making life happen despite the challenges they face, but I have learned SO MUCH.  Amyloidosis patients who have been living with this disease for years have a wealth of information. The administrators of the groups are also up to date with current treatments, clinical trials, and medical breakthroughs happening in the field of Amyloidosis.

I have met people whose advice has helped me through challenging times. There is something special about talking with someone who has been where you are now. Someone who has received the same diagnosis and faced the same overwhelming feelings of fear and uncertainty. To know that others have been where you are and have come out the other side is comforting and inspiring.

Thanks to these support groups I know I am never alone.

 

 

How to contact a support group near you

Amyloidosis Support Group

http://www.amyloidosissupport.org/

1-866-404-7539

Canadian Amyloidosis Support Network

http://thecasn.org/

1-877-303-4999

Amyloidosis Foundation

http://amyloidosis.org/resources/#websites-and-support-groups

One Amyloidosis Voice

https://www.oneamyloidosisvoice.com/

Smart Patients

https://www.smartpatients.com/

 

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. Enjoy!

 

Amyloidosis By The Numbers

 

As a member of the amyloidosis community, we consistently engage in conversations with patients across a variety of forums. One constant among these patients is a desire for more knowledge. We want to learn about symptoms, treatments, and how we are all impacted by this disease. To get some answers, Mackenzie’s Mission created a series of online questions. We heard from 575 respondents. Here are their answers.  Disclaimer: we are simply reporting the data as submitted.

 

In response to what is your current age today, the range was between 20 and 89, with 92.6% falling between the age of 40 and 79, and 83% falling between the age of 50 and 79.

 

 

In response to what was your age at time of diagnosis, the range was between 10 and 89, with 91% falling between the age of 40 and 79, and 63.8% falling between the age of 50 and 69.

 

 

The gender of respondents was somewhat balanced, with 54.5% female and 45.5% male.

 

 

The respondents currently live in 25 countries/areas around the globe, with 82.09% from the United States.

 

 

The types of amyloidosis were also diverse, including Primary/AL, hATTR, ATTRwt, Localized, and Secondary/AA.  About 3% of the respondents were types outside of these, or unknown.

 

When asked about the number of organs affected, the majority at 56.5% had two or more, followed by 36.7% with one organ involved. A small 6.8% had no organ involvement.

 

Next, we asked the respondents for specifics as to which organs had been affected by the disease. The heart and kidney were the most common, with the GI Tract and Nervous System coming in similarly at third and fourth. Fewer respondents listed problems with the liver, lungs, spleen and larynx. In addition, there was a surprisingly long list of other involvements filled in, each receiving just one tally.

 

The next four questions focused on the specialty of doctors that patients had visited, and the time to diagnosis.  We first asked how many doctors each respondent saw before getting a diagnosis. It is interesting to see how evenly it is spread across the selections.

 

We then wanted to know where their journey began. What was the specialty of the first doctor the respondent visited?  It was not a surprise that the majority of responses, at 53.9%, named their PCP/Internal Medicine as their first stop.

 

The next question was to determine what type of doctor made the amyloidosis diagnosis. The data seems to indicate that while PCP/Internal Medicine was the first point of inquiry at 53.9%, they arrived at a diagnosis only 1.9% of the time. Thus, referrals to specialists were key to getting a diagnosis, with nephrologists, hematologists/oncologists, and cardiologists the front runners at an aggregate of 72.9%. Having said that, per the earlier chart, it took many specialists to arrive at the answer.

 

Next, we wanted to know how long it took to get a diagnosis. We were surprised to learn that 50% of respondents said they received a diagnosis within the first six months, especially given the number of doctors visited to arrive at the diagnosis.

 

We then asked respondents to list all symptoms they experienced. The dominant symptoms were fatigue and shortness of breath – 64.2% and 53.7% respectively. The “Other” category came in strong at 22.4%, with an extremely long and diverse list of additional symptoms (too many to mention here). It does seem appropriate to observe that the diversity of symptoms reflects the complexity of this disease.

 

We wanted to better understand how long patients experienced symptoms before they sought medical attention (this is of course with the benefit of 20/20 hindsight). Some 37.6% of respondents sought treatment early, waiting six months or less. However, nearly half — approximately 46% — experienced symptoms anywhere from six months to three years before their first doctors visit.

 

We asked respondents the types of treatments they had undergone since diagnosis. A significant 77.8% had various types of drug therapy and 37% received a stem cell transplant. A number of the patients having a stem cell transplant also had drug therapies, so these responses are not exclusive of one another.

 

For those who underwent a stem cell transplant, we wanted to understand whether the procedure was done as an inpatient, an outpatient, or as a combination. The majority at 68.5%, for a variety of reasons, were inpatient.

 

Our next category of questions focused on clinical trials.  Of our 575 respondents, roughly one-quarter have participated in a clinical trial.

 

We asked those who participated in a clinical trial which one they were in. You can see below the distribution for the ATTR trials. We did ask a separate question regarding the AL-focused trials, however the data proved to be questionable and thus it was excluded from this recap.

 

The next question was aimed at the 77% who indicated they did not participate in a clinical trial, seeking to understand why not.  Striking was the number of respondents who declined, for whatever reason, to answer.

 

In the next question we asked respondents to provide some insight into how they rated their ability to tolerate treatment, whatever that may be. It was spread out, perhaps due to a wide range of treatments.

 

We then asked patients to assess their quality of life before and after treatment. For those that responded, the majority indicated at least a moderate improvement.

 

 

In our next-to-last question we asked the current state of their disease.

 

The final question was open-ended, where we asked respondents to complete the following sentence: “With hindsight, I would have appreciated knowing about …”  We received a massive number of responses, and in our desire to give everyone their full and unedited voice, we invite you to read through the many heartfelt and authentic voices (listed in the order received).   “With hindsight, I would have appreciated knowing about …”

 

 

CLOSING THOUGHTS

 

The responses we got from this study reinforce the complexity and diversity of amyloidosis. To each member of this community who stepped forward to answer the questions, we thank you. Gathering information, spreading awareness, and pushing for change leads us on the path to earlier diagnosis and an increase in life-saving research.

 

One repeating point people mentioned in the last question was a need for more information for doctors and members of the medical community, and for patients and caregivers who are dealing with this disease. If we continue to reach out to doctors, they will recognize the symptoms of amyloidosis and will think to test for it, leading to earlier diagnosis. If we continue to provide patients and caregivers with the most up to date information on treatments, resources, and where they can go for support, we can help arm those who are newly diagnosed. In this way, the sharing of information can be one of our most valuable tools.

 

Fight on, amyloidosis warriors. Fight on.

 

Treatment Survival Guide for AL Amyloidosis

The treatment for AL Amyloidosis varies and can include chemotherapy, a stem cell transplant, or immunotherapy. Each of these treatments comes with its own set of issues and side effects. If you are newly diagnosed and just beginning one of these treatments, it can be a scary and difficult time. The uncertainty of it all can be overwhelming. If you’re worried about what you’re about to face, here are some tips and tricks from patients who have been there. Hopefully, this treatment survival guide can help make the whole process just a little bit easier for you.

Preparing for treatment and having a plan in place (even if things don’t go according to that plan) can help the whole process go a little bit more smoothly. Having an idea of what to expect in terms of side effects helps you recognize and treat them immediately. Learning how to deal with the mental stresses can be as important as dealing with physical stressors. And living your healthiest lifestyle can help make the treatment as successful as possible.

 

Preparing for treatment

  • Ask your medical care team about what side effects you can expect, and what medications you can use to control them (such as anti-nausea medication, or mouthwash for mouth sores). Having a plan in place means you can treat symptoms early; knowing what to expect will lessen the shock of facing these side effects.
  • Create a support system: family, friends, doctors, homecare, neighbors, join a support group. This is a time to ask for help.
  • Make a list of things that family and friends can do to help you out. They can be a great supportive resource but often don’t know what to do. Ask them to walk the dog, pick up the kids, or drop off dinner.
  • Ask for help in the kitchen and plan for meals. Make and freeze your favorites so you don’t have to cook, and stock up on foods that are easy to prepare.
  • Pack a bag to bring with you to treatments. Include things such as snacks, water, books, headphones, mints or gum. Click here for a more complete list.
  • See your dentist before you start treatment (time permitting of course).
  • Do some research on what organizations are out there to help you. There are many reliable sources of information that can help answer your questions.  Check out this resource page from Mackenzie’s Mission for suggestions.
  • Seek out services that can give you some back up. Whether it is a meal delivery service, a cleaning company, or a car service to get you to your appointments, there are options out there to make your life easier. These will vary depending on your location, so ask around to find services close to you.

 

Dealing with side effects

  • Communicate openly with your health care team. Don’t suffer in silence. Be sure to report any side effects you face.
  • Keep a notebook to record any problems you have and when they occur. It can be difficult to remember all that happens between appointments.
  • Take your medication as directed to lessen any side effects. Timing can be important here, as is the case of anti-nausea meds, so follow directions closely.
  • Ask around! If you haven’t joined already, support groups are filled with people who have gone through the same or similar treatments; they may have suggestions as to what helped them deal with side effects. But be sure to check with your doctors before trying anything new.

 

Coping with the stress of it all

  • Battling physical symptoms seems obvious, but there is also a mental game involved. Keeping your spirits up through treatment is important but not always easy.
  • Many complicated emotions will come up during the treatment process: anxiety, grief, anger, denial, guilt. You don’t have to be strong 100% of the time. Talk about these feelings with a friend, family member, your doctor, or a therapist.
  • Create something that lifts your spirits, like a photo album of loved ones, an inspirational board, or a journal of your favorite quotes. Keep it close at hand for those tough times.
  • Focus on the things you can do, rather than the things you had to give up. Pick up some new low energy hobbies to help keep you occupied and your mind off your troubles.
  • Remember you are not alone. There are a lot of survivors out there willing to share their story, especially if it helps to make the life of someone newly diagnosed just a little bit easier.
  • Schedule time for fun! Make sure you spend some time doing things you enjoy. Now is the time to treat yourself well.

Living your healthiest lifestyle  

  • Ask your healthcare team what exercise is best for you. There may be times when it’s just not a possibility, but if you can get outside and take a short walk, do it! Just don’t push yourself too hard.
  • You will probably face a few dietary restrictions. Common ones are low sodium and fluid restriction, as well as avoidance of certain foods that can either conflict with medication or irritate an already sensitive stomach. Ask if your hospital has a dietician you can speak with who can create a plan tailored to your needs.
  • Follow those doctor’s orders! And communicate openly with your healthcare team. Keeping a journal of your treatment plan, medications you take, and side effects you experience, will help you keep it all straight.
  • Do what you can to prevent the spread of virus and infection: practice food safety, wash your hands, wear a mask, don’t visit with anyone who has a cold or virus.
  • Get plenty of rest. Try not to push yourself too hard. There will be times you’ll get frustrated with your limitations. Remember to give yourself a break, take it easy on yourself; you’ve got a lot going on.

 

Recognize that some days will be harder than others. Sometimes the best you’ll be able to do is to just breathe and get through the day.

Remember to reach out if you’re having a rough time. Sometimes just hearing that someone else has walked a similar path and come out the other side can give you the motivation you need to put one foot in front of the other and just keep going.

 

 

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.

DOCTORS of Amyloidosis

Twelve of the most notable experts in the fight against this disease share, in their own unedited words, their views on the state of the disease. They voice what patients and the medical community need to do to push forward, and what lies ahead in the pipeline of potential treatment.

This unparalleled collection of messages from leading experts is a priceless read to understand the disease both today, and tomorrow.

We thank them for their words, and the passion and care they bring to their patients, in the fight against amyloidosis.

Thank you for taking the time to watch and read their stories.

Mackenzie

P.S. You can view the video, or for those preferring a larger font for easier reading, we have provided a transcript for download as well.

DOCTORS of Amyloidosis transcript (download)

 

 

 

 

VOICES of Amyloidosis

According to the Mayo Clinic, Amyloidosis is a rare disease that occurs when a substance called amyloid builds up in your organs. Amyloid is an abnormal protein that is produced in your bone marrow and can be deposited in any tissue or organ. Amyloidosis can affect different organs in different people, and there are different types of amyloid. This disease frequently affects the heart, kidneys, liver, spleen, nervous system and digestive tract. Severe amyloidosis can lead to life-threatening organ failure.

VOICES of Amyloidosis is a five-part campaign intended to give voice to those impacted by the disease. Each person in VOICES, which includes patients, caregivers, and expert doctors, has a story to tell in their own unedited words. You will feel their emotions and share their hope for the future.

Thank you for reading and sharing far and wide, as the more people that know about this disease, the better the odds are to advance the timing of diagnosis, find answers for improved treatments, and ultimately develop a cure.

This is their message.

Please scroll down to see each of the five videos.

Part 1 of 5

Part 2 of 5

 

Part 3 of 5

Part 4 of 5

 

Part 5 of 5

 

Building a Caregiver Team

BUILDING A CAREGIVER TEAM

There are times when those afflicted with amyloidosis need assistance — a caregiver. In some instances, such as a stem cell transplant (SCT), the treatment is so extensive that securing a caregiver is required before treatment commences. It is for these situations that we thought we’d share some thoughts about how to build a caregiver team.

 

CONSIDER YOUR NEEDS

The role of a caregiver can be intensive and draining. In particular, SCTs performed on an outpatient basis, while deemed to be good for patients, shift a significant amount of work to the caregiver (see https://mm713.org/transplant-inpatient-vs-outpatient/).

Begin by itemizing the different aspects surrounding your caregiver roles, such as the following:

  • Expected duration of treatment
  • Location
  • Meals (e.g., cooking, shopping)
  • Transportation
  • Basic medical monitoring and care (e.g., drug administration and tracking, food and liquid intake tracking, vitals monitoring)
  • Administration (e.g., insurance)
  • Care for kids and/or pets
  • House sitting

 

WHO IS AVAILABLE TO HELP

Family members are often the first call to offer caregiver support. Neighbors and good friends often stand at the ready to help as well. Embrace and accept their help.

 

HOW TO ASSEMBLE THE TEAM

Particularly if the expected duration is long, caregivers need breaks. The caregiving process itself can be intensive and draining, and they have their own daily needs to attend to as well.

It is not uncommon to have multiple sequenced (one after another) caregivers during a four to six-week SCT treatment. However, another way to think about assembling your caregiver team is to line them up to work in parallel and together. You may be able to extend the duration of each caregiver if their tasks are narrower in scope. In addition, assign tasks consistent with each caregiver’s skills.

In my situation, I needed to prepare for having a SCT on an outpatient basis. I was extraordinarily fortunate to have four family members live with me throughout the entire treatment process. We figured it would be most productive to allocate responsibilities based on skills and that we would build in breaks from the intensity. Here’s how my caregiver team looked:

  • My Dad. He was in charge of room and transportation. We needed a place to stay for five people for up to six weeks (we found a fantastic transplant-friendly house through HomeAway near the Mayo Clinic in Rochester). We also needed transportation to get all of us to/from Rochester, and determine how best to get around during our stay (a combination of fly and drive so that we had a car).  Four of us were coming from the Washington D.C. area, and one from the Los Angeles area. Lots of logistics to consider.

 

  • My Mom. With her strong organizational skills and squeamishness towards all things medical, she was in charge of all things administrative and insurance-related. She was in charge of making the list of things we needed to bring or buy to set up the household and kitchen. She brought favorite recipes so we could more easily muster grocery lists. In addition, she would collect receipts, track mileage, and made sure there was good coordination between our insurance provider and Mayo Clinic. This is a procedure that requires advance authorization and is expensive, so attending to the financial aspect is important.

 

  • My Brother. He is three years younger than me (20, and I was 23), studying pre-med with a keen interest in becoming a physician, in addition to a strong interest in sports and nutrition. His role was three-fold: exercise for all of us (myself included), nutrition, and assist in monitoring my vitals and food/liquid intake. Our rental house neighborhood was flat and had sidewalks, offering an easy way for all of us to get some fresh air even if just for 15 minutes at a time. We also found a local fitness club that we could join for a month-to-month low cost, offering another way for the caregivers to rotate to work up a sweat and work off stress.

 

  • My Aunt. Being an oncology pharmacist, she was the obvious pick to administer my drugs, which were extensive, and monitor my vitals and food/liquid intake. In addition to the required drugs, there was also the as-needed drugs for pain, nausea, fever, etc. that she would collaborate with the Mayo medical team. Her expertise was priceless, particularly during those days when things were most difficult.

For our two pups, we found an extraordinarily loving “free range” place that lets the pups play with other like-sized pups all day, and then boards them at night. It gave us great peace of mind knowing they weren’t caged all day and night for a month. In addition, we arranged for them to send us weekly pictures, which quickly became something to look forward to.

Once we began the SCT process, I worried about nothing other than myself. I left it to my caregiver team to do all of the worrying, errands, purchasing, preparing, communicating with Mayo, etc.  I loved having my family around, as I found it extraordinarily comforting and appreciated their attempts at distracting (for example, we must have played Monopoly 20 times).

 

BE CREATIVE AND PLAN AHEAD

While everyone has a different situation, my biggest suggestion is to be creative, mindful of who and how many caregivers you assemble for your team, and don’t underestimate all that is required of your caregiver(s). Think about your needs, as well as their needs, expertise, and time availability to commit. Listen to any guidance provided by your healthcare team. There is no question there is a lot to plan for, but the more thought you put into it will no doubt pay off in your experience. After all, while you are going through treatment this will be the last thing you are interested in or able to focus on. Advance planning is critical.

 

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