3 min read

What Does Healthy Skin Mean To You?

By Sumaira Ahmed on Dec 14, 2020 10:30:53 AM

Did you know that Medable's co-founder & CEO, Dr. Michelle Longmire, is a practicing Physician specialising in Dermatology? In the spirit of learning, how about an interesting skin fact? Did you know that skin is the largest organ in the human body? It’s true! Factoids aside, what does healthy skin mean to you? 

Keeping my skin moisturized and itchiness-free” - eczema patient

Pimple-free skin! I focus my routine on keeping my skin clear and I feel my skin is the healthiest when I don’t have to wear any makeup” - acne patient

Feeling comfortable in my own skin” - psoriasis patient

We connected with a healthy skin expert and dermatologist, Dr. Georgina Ferzli, to get some tips on how to keep your skin healthy while you winter in quarantine:

  • Limit shower time to under 5 minutes and keep water lukewarm
  • Invest in a good humidifier
  • Use antioxidants to help your skin looking fresh
  • Use creams (in jars) instead of lotions (with pumps) as moisturizers
  • Avoid harsh acidic toners or washes
  • Limit exfoliation to once per week with a glycolic acid wash
  • Stay hydrated!
  • Incorporate hyaluronic acid into your routine 
  • Consider switching from retinal to bakuchiol

According to Dr. Ferzli, there are a variety of factors that impact our skin including gut health, mental health, stress levels, habits, and the way we feel about ourselves. Understanding the relationship between our skin and other variables is a huge step towards healthier skin. Some variables to consider when working towards improving your skin health are:

    • Sleep - are you sleeping enough? Also, did you know that sleeping on the same side of your face too much may result in an uneven distribution of wrinkles and creases in your skin?
  • Diet - as the saying goes, “you are what you eat!” Limited / avoiding oily, fried foods and abundance of alcoholic beverages is a good start!
    • Water intake - stay hydrated! Water does a body good.
    • Air quality / pollution - poor air quality and high exposure to pollution can lead to skin conditions including but not limited to dermatitis, eczema, psoriasis, and acne
    • Exposure to the sun (don’t forget to apply your SPF moisturizer even when it’s not sunny!)
    • Smoking - did you know that smoking is one of the fastest catalysts to aging your skin?
    • Cell Phones - there is an alarming amount of bacteria that can be detected on our phones. Be sure to clean your phone with antibacterial wipes. 
  • Makeup - remove your make up completely before going to bed! 
  • Products - with an abundance of skincare and makeup products available to consumers, it’s important that you’re using the products that work for YOU! Using the wrong products may result in adverse effects on your skin. 

About Georgina Ferzli, MD

Doctor

Dr. Georgina Ferzli is a cosmetic and laser dermatologist in New York City. As a former acne patient herself, Dr. Ferzli chose dermatology as her specialty in order to help others who suffer from skin-related issues. Dr. Ferzli spends her time curating personal skin care routines for her diverse patient community. 

Resources: 

Get in touch with Dr. Ferzli via email at georginaferzlimd@gmail.com or send her a direct message on Instagram @dermdocny

Topics: PAC PatientCare Skin Care Health Care
8 min read

Diabetes: It’s a Family Affair

By Paul Kidwell on Dec 1, 2020 12:33:11 PM

The world changes for people diagnosed with diabetes. Moreover, their families, loved ones, and friends are also impacted; and not merely as spectators.  We realize, however, that as is the case of most diseases or medical conditions, health issues not only impact the patient, but those close family members, friends and loved ones as well.

Diabetes affects everyone in some way. It not only affects the individual with the disease, it also affects those who live with the person or somehow involved in the life of the person affected by the disease. There are over 34 million people in the United States living with diabetes, with 1.5 million new cases presenting each year. A small, but significant group of that larger contingent consists of people under 20 who have contracted the illness. In fact, over 208,000 young boys and girls have Type 1 or Type 2 diabetes and for them their illness is truly a family affair. 

How well families cope with these changes can mean the difference between rapidly worsening disease and a relatively healthy life. It's an opportunity for families to strengthen their relationships with each other and to improve every member's overall health. But it is not without a serious commitment to patient health and well-being. That was certainly the case with the Shumsky family of Ann Arbor, Michigan; and sister/daughter Erica, who was diagnosed with Type 1 Diabetes at the age of 9. 

Her diagnosis came as a complete shock to her mother, Jen, as she saw this otherwise healthy young child  diagnosed with  this disease and tried to figure out what Erica’s illness would mean for her as the rest of the family which included Jen’s husband and elder son. That was six years ago, and recently Jen and Erica spent time with me discussing the influence and challenges of diabetes on the Shumsky family.

Jen and Erica 1

Medable: Briefly please share Erica’s story.

Jen: I had been an RN for 19 years when Erica was diagnosed with Type 1 Diabetes (T1D) in 2014.  We also have a son with a rare disease, Duchenne Muscular Dystrophy, so my husband and I were no strangers to taking on additional duties when it came to additional medical needs in our children.  Erica was having some nighttime incontinence that originally appeared to be connected with a growth spurt as she had grown a bit taller and was looking thinner.  However, after a couple weeks it was not getting better.  The kids had spring break and were home for a week and we watched her drink and drink and drink apple juice.  My husband and I were both familiar with the signs of diabetes, but really couldn’t believe it would affect our family.  We had a glucometer at home that we kept for occasional checks of our son and if family members needed to check.  We decided to check her fasting blood sugar and it was high (238).  

Medable: Was the diagnosis immediate? 

Jen: We called the pediatrician and they sent us to the ER.  They confirmed the diagnosis in the ER with blood and urine testing.  Her A1C (a blood measurement to look at how blood sugars have been running) was 8.9, which is high, but not as high as many will have when they are first diagnosed.  We were told that we caught her T1D incredibly early.  

Medable: What resources were you offered by your medical team to find out more about Diabetes 1?

Jen: In addition to a very supportive pediatric endocrine clinic with nurse educators that were regularly accessible, we were connected with the Juvenile Diabetes Research Foundation (JDRF).  We were also very lucky to have a couple close friends that had T1D that we could lean on for support and advice.  

Erica: I remember I got a bag from the JDRF (called the bag of hope) that had a stuffed bear named Rufus that I really liked.  Rufus has areas on his body where you can practice giving insulin injections.  

Medable: What is the difference between Type 1 and Type 2 Diabetes:

Jen: Type 1 diabetes (T1D, insulin-dependent or juvenile) can occur at any age, but most commonly is diagnosed from infancy to the late 30s. With T1D, a person’s pancreas produces little or no insulin. Although the causes are not entirely known, scientists believe the body’s own defense system (the immune system) attacks and destroys the insulin-producing cells in the pancreas.  People with T1D must inject insulin several times every day or continually infuse insulin through a pump. While its causes are not yet entirely understood, scientists believe that both genetic factors and environmental triggers are involved. Its onset has nothing to do with diet or lifestyle. There is nothing you can do to prevent T1D, and — at present — nothing you can do to get rid of it.

Type 2 diabetes is much more common than Type 1.  Type 2 diabetes typically develops after age 40, but can appear earlier, and has recently begun to appear with more frequency in children. In this form of diabetes, the pancreas still produces insulin, but the body does not produce enough or is not able to use it effectively. Treatment includes diet control, exercise, self-monitoring of blood glucose and, in some cases, oral drugs or insulin.

Erica: It frustrates me at times that people do not understand that there are different types of diabetes. There is a lack of understanding that type 1 is something that just happens to people.   I do sometimes get frustrated  by all the diabetes memes and jokes out there about getting diabetes from eating junk food and lifestyle choices.  Many times people will see me eat something they deem unhealthy and ask if I should be eating that.  It doesn’t matter what I eat with my type 1, I will always have to take insulin for it.  I eat a fairly healthy diet and participate in school sports including field hockey and lacrosse,  which is just the opposite of what many people may think when they learn I have Type 1. Plus, because of this disease I will always be insulin dependent because my body does not make it naturally.

Medable: What was this new life this disease was presenting to you? 

Jen: Suddenly I had to do algebra every single day to figure out how much insulin to give based on how many carbs were in the food she was eating.  Never realized I really would need that much math  in my adult life.  We had to check her blood sugars every 3 hours at night at a minimum.  In those early days, my husband and I would do this together to learn the process.  We progressed to taking turns.  

Erica: I am now 15, but at the time of the diagnosis, I was very scared of these words, I really did not know how my life was going to change in the beginning. When I learned more about what I would have to do to keep myself healthy, such as daily injections or counting the carbs that I eat.

Medable: What was the emotional impact of this diagnosis? 

Jen: As a parent it is just devastating when your child is given any type of challenge in their life.  You want their life to be as easy as possible.  A serious medical diagnosis is hard, especially when it is going to be an ongoing lifelong condition, that is impacted by stress, hormones, food, exercise, alcohol, and countless other things.  Your child loses a bit of childhood when encountered with so much responsibility.  For my husband and I, we had already had one horrible diagnosis day when our son was diagnosed, so in perspective, this T1D diagnosis was so very hard, but knowing that if we worked really hard we could control some aspects of this disease was so encouraging.  

Erica: For me, I was very scared when the doctor came in and delivered the diagnosis. I remember crying and wondering why this was happening to me. I think the emotional impact for some is bigger than others. From my personal experience with this disease, I have learned that it is ok to have multiple mixed feelings, there is no one right way to feel. 

Medable: What has been the impact of the past few years living with the illness?

Jen: Technology has come so far in the 6 years since Erica has been diagnosed.  She started on a CGM (Continuous Glucose Monitor) about 4 months after her diagnosis as she had (and still has) hypo unawareness (she does not feel low blood sugars).  When she started with a CGM she carried a small receiver with her that would read her sugars, now her phone reads her blood sugars and sends those readings to our phones, so we always know how she is trending.  She also has been on an insulin pump for about 5 years.  The technology in pumps is constantly improving.  She now has a Tslim X2 pump that works with her CGM in what is called Control IQ.  This Control IQ system works by giving her extra insulin if her blood sugar is high and reducing her insulin if she is trending low.  Erica has come so far in learning how to manage her condition also.  As she is about to turn 16 next month, we need her to be responsible as she takes on driving and other activities.   

Erica: These past few years have been easier than the first to second years of living with type-one. Everything has gotten a little bit easier, for example, counting carbs has gotten way easier for me because I have been doing it for so long. Another thing that has been easier is knowing how to correct my blood sugar and how to keep it in a manageable range. I also have a pump as well. The pump makes life so much easier to manage. The pump I have is the Tandem X2, this is a great pump that has definitely changed my life for the better. 

Medable: Jen, how do you separate your role as a mother with that of a caregiver?

Jen: Well actually, I think all parents are caregivers.  What level of care you have to give your child is different in each household. I chose to become a nurse many years ago because I am a caregiver at heart, it brings me joy.  My husband and I decided early on that we were not going to parent our kids any differently than we planned because they have medical issues.  They have chores and expectations, they are punished and rewarded the same as their peers.  

Medable: Erica, how do you separate your “lives” as a teen-ager, student, patient?

Erica: I think that I separate my “lives” in different ways, but ultimately, they are all connected to each other in some way. As a teen, I have to make sure that my sugars are controlled if I'm going somewhere. If my sugars are too high or too low, it is very difficult to concentrate on schoolwork, If I am taking a test or a quiz, I must try to make sure to keep my sugar in the normal range. Lastly, as a patient, I like to think that I am a pretty decent one. If I see someone else in public that is a fellow “diabuddy” especially if they are younger than me, I will try to smile at them and I will show them that even though we have this disease, we can still be happy, healthy and amazing people. 

Medable: Erica, how supportive have your friends/classmates been?

Erica: My friends have been very supportive of me, from the time that I was diagnosed, there were friends that came to visit me in the hospital. Whenever I have told my classmates that I have T1D, they have also been very supportive as well. Some of my closest friends are like built-in reminders to check my sugars to make sure I’m alright. I love my friends to death, and I am definitely very glad to have them and that they love me too and look out for me.

Erica 2 - Friends

Diabetes Patient Resources:
Association of Diabetes Care & Education Specialists
Diabetes Foundation
Juvenile Diabetes Research Foundation

Topics: PAC PatientCare Diabetes DiabetesAwareness
8 min read

Profiles in Caring

By Paul Kidwell on Nov 30, 2020 1:35:45 PM

Former First Lady, Rosalyn Carter, is attributed to a quote that perfectly sums up the impact and the deep reach of caregiving in all of our lives.

"There are only four kinds of people in the world: those who have been caregivers, those who are currently caregivers, those who will be caregivers, and those who will need caregivers."

There are over 50 million people in the United States who care for adults and children afflicted by some type of medical condition, with illness preventing these individuals from caring for themselves. Whether caring for an elderly parent, a seriously ill spouse or child, or some other special person in need, those individuals who are on the front lines of caregiving put themselves second as they immerse themselves in a life of personal sacrifice of time, energy, and income. 

In this Medable blog we celebrate November as National Family Caregivers Month and highlight the lives of four individuals who are caregivers.  Legions of people call themselves caregivers and do so in quiet strength and without expecting anything in return for their selflessness. It is an isolating existence; one that often produces a sense of frustration and despair. We live in a culture where a growing contingent of Americans are thrust into this role - we call upon everyone to support them during this month and always. 

Daniel Zahn
Project Coordinator, Medable

My Son Ethan was born with CHARGE Syndrome in 2017, so my wife and I have had to take on the caregiver role as well as being new Parents.  Caregiver duties include drawing up daily medications, giving meds, g tube feedings, trach care, suctioning, and transportation to numerous Doctor visits per month at Children’s Hospital. 

Q: How do you balance your two lives; caregiver and non-caregiver?

My Son Ethan has a Physical Therapist, Occupational Therapist, Speech Therapist, Vision Therapist, and Hearing Therapist that all come to our home during the week.  During the pandemic, the home visits have stopped, but the therapy sessions continue via zoom meetings. This is not ideal, but my wife and I have become a ‘jack of all trades’ to help continue Ethan’s progress. Juggling work and therapy sessions has been challenging and tiring.  We do what we have to as parents and caregivers to make it work the best we can.

Jennifer McNary
Consultant. Public Speaker. Advocate. Non-Profit Leader
Manager, McNary Consulting

I was 18 when my oldest son Austin was born. He was a normal healthy baby but by age 3, following my second son Max’s bith, it was apparent something was wrong. Austin and Max were diagnosed with Duchenne about 3 months later. My now 13-year-old youngest son was diagnosed three years ago with primary immune deficiency at 10. So, I am a mom and caregiver to three sons with rare diseases.

I have always tried to separate being a mom from day to day caregiving by having daily help with Austin and Max's physical needs. At 21 and 18 they need total care, lifting, bathing, grooming, everything. I have had to work and have additional clients to earn enough money to supplement the personal care budget afforded to us by state medicaid. It's important to me that Austin and Max have care from professionals- I don't like the dynamic of being the only caregiver. That said, I don't have 24/7 care for them- so much of it still falls on me. James needs weekly infusions, which I have to provide him. That can be a battle- what 13 yr old wants his mom pushing needles into him every week. It's hard to even get them to shower at that age and take a multi-vitamin. Caring for the boys’ healthcare alone can be a full time job - from juggling specialists visits, appealing denied medications and durable medical equipment, to making sure they have all of their specialty meds. So much paperwork. It's mentally draining and there aren't enough hours in the day. I often joke that I need an admin, just to deal with that piece. 

Q: How has the pandemic impacted the emotional strain that already existed as a caregiver?

Worrying about bringing the help we need, PCAs, nurses, etc into the home has weighed on me. On one hand, I can't do this alone- it's been almost 9 months.  For the first month, I didn't have anyone come into the house. It was way too much work for me to do alone while working full time and juggling my 9-year-old daughter's remote schooling and care. On the other hand, my sons likely wouldn't survive COVID. There would be so much guilt on my side if someone I brought in gave the virus to one of the kids. Their immune systems are all compromised- I have seen James be intubated when he caught paraflu at age 9. I think I have a fair amount of secondary medical trauma so we live in fear of people. I'm also totally alone with the kids. As a single mom, I used my work travel and time away as a time to recharge - it’s going to be a long time before that can happen again. 

I've also had to give a lot of thought to what we would "do" if one of us got COVID. What would the kids do if I was sick and couldn't care for them? What if I didn't survive? It's crazy, maybe, but it took this pandemic for me to buy life insurance, and to start on a will. I realized they really only have me. These terrifying thoughts are what keeps us isolating as long as entirely possible. 

Q: How do you make sure that you have “me time?” Describe those private moments.

I am a huge believer in maintaining a sense of self even with kids, especially with kids with health conditions. I take what some might call excessive amounts of time to myself. I set reminders on my calendar to exercise on my spin bike or do yoga daily- I walk the dogs, I take time to read and write when I feel the urge. My kids are as independent as they can be, and I encourage them to find ways to do things themselves if possible. I also have regular help, as I mentioned. I don't believe in being a martyr - I don't think it helps your loved ones to believe you're the only one who can care for them either. With any luck, they will outlive me and need to learn how to have others do things for them as well. I used to add a few days or sometimes just hours to every work trip - just to explore. I love to travel - I love to try new foods and see new sights. The kids and I travel a fair amount together, but that's usually exhausting. Where traveling alone or with a colleague is energizing. I hope we can get back to that life soon!

Rasmus Hogreffe
VP of DCT Innovation, Medable

When my dad was diagnosed with Prostate cancer eight years ago. It was a shock for the whole family, and due to my medical background, I was the obvious choice to support him where and whenever needed. He passed away three years after his diagnosis and my role as caregiver expanded during that time as the disease progressed. The most challenging part of being a caregiver is realizing that you are about to lose a significant person in your life. In the last days of his life, you live in constant fear of the next call, is it now, is he dead, is he dying? This phase took out all my energy, making it difficult to cope. Unfortunately, I didn’t cope as well as I should because I kept all my feelings of sadness and impending grief inside without sharing with others. The experience made me think that I needed to be more open with my feelings, something I hope to improve upon in a future and similar situation. 

Q: We talk often about how our healthcare system needs to account for indirect costs of being sick, such as lost productivity and the emotional toll for both the patient and their caregiver. Can you expand on what these indirect costs mean to you? What are you doing to help offset these costs?

I believe that you only have 100% mental capacity. When you are a caregiver, you allocate a big amount of this mental capacity in taking care of your loved ones. This directly effect productivity, which can and will result in increased frustration and loss of focus. We are all unique and we all have different ways to measure the value of a treatment. There is definitely room for improvement in this area. I do not believe that we will be able to measure this 100 percent accurately. But by utilizing technologies where the patients and caregivers are, we would be able to collect precious data that could help us calculate a more precise value of a treatment. As the shadow of the patient, a caregiver will rarely be recognized, but the importance of this role is a fact and will never disappear. The value, however, comes mostly from the patient and not from others outside that experience. The industry must recognize the value of caregiving and that behind a patient, there is nearly always a caregiver/caregivers involved. It has taken far too long to put action behind the words “patient centricity”, let’s not make the same mistake with the patient caregivers. 

Ching Tian
SVP, Strategy and Solutions
Medable


In February 2019, my dad was diagnosed with late-stage gastric cancer. A month later, my mom found out that she has breast cancer. My brother and I barely had time to absorb the shocking news before we had to spring into action. My brother lived in northern California, near my parents, while I lived across the country on the east coast. We immediately started looking into treatment options and reaching out to doctors for second opinions. We had to make difficult decisions to try to balance their quality of life while not giving up the fight. For almost a year, my dad and mom not only went through chemo, surgery, and radiation therapy but also dealt with multiple emergency room visits and hospitalizations in between. In January, my dad lost his battle with cancer and passed away. My mom has now been cancer-free for a year but is coping with the progressive symptoms of Parkinson's disease.

Q: The term “patient-centricity” is often used to describe how biopharma companies involve patients in each element of the drug discovery/development process. How would you define “Caregiver-centricity?”

Over the past few years, I have been working on patient-centric clinical trial solutions with the key objectives of expanding patients' access to clinical research and reducing patients' burden of participation. The focus has been almost exclusively on the patient, and the caregiver was only brought up occasionally. Through undergoing the intensive caregiving period for my parents, I realized the importance of the caregiver role. For some patient populations and diseases, many patient care activities are handled by the caregivers. Some caregivers participate in making treatment decisions. The burden on the caregivers can be immense, and sometimes a patient has to rely on multiple caregivers working together as a team. Their ability to support the trial participation, in person or sometimes from a remote location like in my situation, can determine whether the patient can participate in the trial. Therefore, we have to incorporate caregiver-centricity in our solutions. Making caregivers aware of research opportunities and providing tools for convenient study information access (e.g. managing visits, medications, reporting events, and communicating with the site team) can ultimately help the industry achieve patient-centricity. 

Topics: PAC PatientCare caregivers caregiving awareness
3 min read

Prostate Cancer Awareness Month: Navigating an Increasingly Complex Disease

By Joan Venticinque, PAC member on Sep 14, 2020 10:56:38 AM

prostate-awareness-month-1

During September, Prostate Cancer Awareness month draws attention to prostate cancer screening and those living with the disease. Over the years, my grandfather, father, and four close friends have received a prostate cancer diagnosis. Their ages range from 40s to their 90s and their diagnoses varied from early stage through metastatic disease. For all of them, their diagnosis was both unexpected and distressing. They were fearful and overwhelmed at the prospect of being asked to take a more active role in their treatment decision-making, often without understanding the diagnosis, treatment plan, or prognosis.

–“I have seen three different doctors, and all recommend a different treatment plan. How do I know what to do?” –Jeff

There is so much confusion about screening and treatment for prostate cancer. “I’ve heard measuring PSA is not an accurate test.” “It’s slow growing, so why worry?” “They say all men will have it [prostate cancer] in their lifetime, so why go to the doctor?” “How will the different treatments effect my sex life?” The array of available treatments varies widely from surgery to radiation, anti-hormonal medication, immunotherapy, gene therapy, and watchful waiting. What do patients believe and how do they decide what to do? These questions demonstrate the need for clinical trials that provide the answer of the ‘right’ screening and treatment for the ‘right’ patient.

–“I did as much research as I could and had two second opinions. I found a clinical trial for a new type of radiation treatment. I was glad I did. It was important that I found the right treatment for myself.”–Jack

New Treatment Options as a Result of New Screening Modalities & Therapies-graphic

 

Clinical trials play a vital role in moving new screening modalities and treatments to patients. Recent screening trials have included combining magnetic resonance imaging (MRI) with ultrasound for more accurate prostate biopsies. This method can increase the detection of high-grade prostate cancers while decreasing detection of low-grade cancers that would not progress. New imaging techniques also include using a PET scan that looks for a specific protein called prostate-specific membrane antigen (PSMA) found on prostate cancer cells.  The ability to detect very small amounts of metastatic prostate cancer could help doctors and patients make better-informed treatment decisions.

Targeted Therapies for a Complex Disease in the Age of Precision Medicine

Targeted therapies based on PSMA, the same protein that is being tested for imaging prostate cancer, are being studied for radiation treatment.  The molecule that targets PSMA is chemically linked to a radioactive compound. The new compound can potentially find, bind to, and kill prostate cancer cells throughout the body.

 Over the last few years, several new approaches to hormone therapy for advanced or metastatic prostate cancer have been approved for clinical use. Many prostate cancers become resistant to standard hormonal treatment over time. After successful trials, three recently approved drugs have been shown to extend survival in men with hormone-resistant prostate cancer.

Current trials are using immunotherapies that work with the immune system to fight cancer. These therapies can either help the immune system attack the cancer directly or stimulate the immune system in a more general way. Currently, vaccines and checkpoint inhibitors, two types of immunotherapy, are being tested in patients with prostate cancer. 

–“I relied on my doctors for my treatment plan, but it wasn’t until I joined a support group and realized everyone was different with different choices, including clinical trials, that I felt more comfortable with my decisions.” –Larry

 

right_decisions+treatments_patients_medable_dct

 

My family members and friends eventually all made their treatment decisions. Given their age differences and goals for their therapies, each one had a different treatment plan. Although my grandfather is gone, others live with side-effects. Still, others are on treatment for the rest of their lives without much in the way of side-effects. All benefited from patients who participated in clinical trials. Without clinical trials we may never understand what the ‘right’ screening and treatment will be for the ‘right’ patient.

 

Topics: decentralized trials PAC RareDisease prostate cancer cancer awareness
6 min read

One in 75 Million: Parents Seek Cure for Ultra-Rare Genetic Condition

By Jena Daniels- Director of Research on Aug 20, 2020 4:57:46 PM

Raghav Sanath is celebrating his second birthday this month.

Something so simple, one of many cherished moments for parents of young children. And yet for Raghav’s parents, Sanath and Ramya, it’s one of many days that is truly a gift.

The reason: Raghav was born with an ultra-rare genetic disorder caused by mutation in a gene called GPX4. At the time of Raghav’s birth, only two other babies were reported to have it. Both passed away a few weeks after their birth.

Raghav’s father Sanath says they knew something was wrong two or three hours after Raghav’s birth. He was not moving his hands and legs like a normal newborn, and he could not suckle on the bottle. “That night the doctor came to us and told us there is something significant happening with him, and I’m not sure what it is.”

Four or five days later, Raghav was moved to Seattle Children’s Hospital, where specialists started looking at his bones and his brain and his GI system for clues. Geneticists ran several panels of tests. After 20 days or so, Raghav went home with his parents, knowing only that there was some undetermined genetic issue.

Raghav then underwent exome sequencing to analyze large portions of his DNA to determine a cause for his disease. The genetic clinic tested for a variety of indications that all came back negative. Finally, on Raghav’s first birthday, right before cutting the cake, his parents received a call from the genetics clinic that Raghav has a rare mutation in his GPX4 gene.

The doctor shared that Raghav was “doing better” than others with the disease, though his future was described as wheelchair-bound, non-verbal and prone to premature death.

As Sanath wrote in a blog post last September: “This is a future no parent wants for their child! Raghav is over one year old, but cannot sit up without support. He doesn’t have the muscle strength to hold a toy in his hand. He doesn’t have the oral strength to swallow food. He cannot hear normally. His bones are not developing as expected. We really don’t know what his future looks like.”

Once they received the diagnosis, Sanath says, “It helped us take care of him better because we now know the severity of the condition. It also gave a name to the problem, which previously was hiding in plain sight. At that point, we could start to find a solution.”

Sanath and Ramya immediately shifted into problem-solving mode, starting their own personal search for a cure. After reading another parent and fellow computer scientist’s journey online, Sanath published a blog post sharing Raghav’s story with an appeal for help. Sanath shared the post with family and friends, and it “sort of went viral” – resulting in $100,000 in donations in two or three days.

      "That transformed our perspective from being not hopeful to being incredibly hopeful,                 because so many people believed in us enough to actually give us money – and give us           a lot more than we asked. And they all sent us messages and phone calls saying, hey,             you can do this.”

Sanath, Ramya and others set up Facebook groups and WhatsApp groups to find researchers and other patients and any resources that could help their son.

They found a researcher who is working on a paper about GPX4 gene mutation, through which they learned about eight other cases around the world. The first reported condition was in 1980, and then there was a long pause before the next significant paper in 2014. Some of the gene mutations have been lethal, while some have been compatible with life.

They focused initially on drug repurposing – using available drugs to treat new conditions. Working with researchers, they were able to identify 36 relevant drugs to repurpose. They tested 3-4 supplements that were deemed highly safe, one of which showed significant improvements in the short term but plateaued later.

     “The initial few months were fueled by the interest and also the hope to solve a problem,”          reports Sanath, who works as a senior software engineer at Amazon. “It was exciting to            solve one of the most challenging problems that exist in humanity. It’s like going to Mars,          but this is by far even more challenging because you’re dealing with life.”

That excitement, though, was “followed almost immediately with deep sorrow” as Sanath and Ramya had to help Raghav navigate everyday life and deal with his condition. “Even the most mindless things are serious. So even like now when he gets a little rash, for example, we take that extremely seriously. And every time he gets a cough or a fever, it’s an existential crisis for us. We have to get to the bottom of it and try to fix it right away. We just don’t wait.”

Sanath and Ramya eventually identified an experimental drug that aligns very closely with the gene’s mechanism of action, so they filed an application with the FDA to secure approval for a “compassionate use” single trial. The paperwork was finished last Thanksgiving, and they just recently received FDA approval – and the first shipment of the drug.

While Sanath is hopeful, he doesn’t want to bank on the experimental drug, so they are also exploring gene therapy as another treatment option. Like clinical drugs and trials, gene therapy is extremely expensive – millions of dollars per patient. So Sanath and Ramya are raising new funds to pursue that path. While that may be an option for Raghav, Sanath is concerned about what happens to other kids with limited resources.

      “We need to make gene therapy accessible to ultra-rare diseases, because right now for           conditions with so few patients, there’s no commercial interest.”

Given Sanath’s software engineering background, he is also exploring how behavioral therapies might work for his son, tapping into the latest computer science research for eye tracking, body language tracking and other techniques. (Sanath recently transitioned to Amazon’s health care division, which better aligns his role at work with his parental mission.)

Sanath reinforces that he and Ramya are not alone in this journey, and they benefit so much from other parents in the rare disease community. “We’ve learned from so many other parents and researchers in the industry people along the way. Because this is a community that just shares, no questions asked. The first time you meet someone who’s in the community, you feel as if you’ve known them for 10 years – and we share such an immediate bond that you don’t really share with others.”

Ultimately, though, this journey is about Raghav and the love and aspiration that parents have for their child:

     “To me, I want a high quality of life for my son. I want him to be independent. I want him to        get a job. I want him to go to school and learn and just lead an independent life like you            and I do. And that means, you know, until we are confident that he’s there, we still have            work to do.”

 

# # #

Raghav is one of many patients living with rare diseases, many of which have no known cure or treatments. Medable will continue to highlight stories of patients and caregivers like Raghav, Sanath and Ramya, as we encourage the industry to invest resources into rare disease research.Please follow Raghav’s story via his family’s bi-weekly podcast. And please follow our Patient Advisory Council via blog and LinkedIn for additional stories.

Topics: PAC RareDisease
13 min read

Cures 2.0 PAC Views

By Medable Patient Advisory Council on Jul 1, 2020 9:56:18 AM

The 21st Century Cures Act, passed at the end of 2016, has laid the groundwork for faster innovation of therapies and products to patients, while modernizing numerous parts of the drug/device development life cycle, including clinical trial design, real-world evidence use, and patient engagement.

The half-billion-dollar program extends through 2025, looking to streamline the process of clinical research, shorten the drug development lifecycle, and get therapies to patients faster. While it has achieved some successes, many initiatives touted as bringing transformative results have yet to come to fruition. The high-level 21st Century Cures Act goals are summarized below:

  1. Preventing and curing serious illness
  2. Accelerate drug/device development
  3. Address opioid crisis
  4. Improve mental health service delivery
  5. Interoperability between EHRs
  6. Adoption & Interoperability of EHRs

Near the end of 2019, the authors of the original Act, Reps. Diana DeGette (D-Colo.) and Fred Upton (R-Mich.), brought forward a proposed second iteration of healthcare reform they called "Cures 2.0", seeking to build on the substantial bi-partisan support of their first Act. This encore presented new, progressive, and more specific ideas than the original bill, touching the topics of digital health, healthcare coverage, patient data empowerment (including real-world evidence), and addressing the need to support caregivers and the families of patients. The window for public input is closed, but many of the more influential organizations have released their wish list for Cures 2.0. With that as the backdrop, the Patient Advisory Council (PAC) at Medable gathered our thoughts on the progress made by the original Act and where Cures 2.0 could take healthcare in the United States.

Building on Cures 1.0

Initially, the PAC focused on what was available to build on from the first Act. However, several ideas came from the dissecting the original Act and brainstorming what stronger federal involvement could mean for patients. The PAC saw several opportunities to build more expansive legislative efforts to address where the original Act has fallen short. Some fantastic results were achieved at the Oncology Center of Excellence, such as the first drug approval (for Keytruda) based on a tumor's unique biomarkers; and in-vitro diagnostics identifying patients who benefit from a multitude of approved treatment. However, other areas of the 21st Century Cures Act saw dramatically less progress made.

Though the NIH was tasked with including more women and minorities in research, clinical trials are still not as diverse and equitable as they need to be. Certainly, part of this is an access issue, and part comes down to awareness of clinical trials or lack thereof.

· Richie Kahn, Medable PAC member

Initiatives that are tangible and measurable, such as diversity or EHR interoperability, need more specific and more forward-looking regulatory guidance. These are the places that legislation can bring industry innovators into a common sandbox so that valuable resources are spent iterating the next big leaps forward in the ability for a patient to accumulate and distribute their own health records seamlessly. The success of the passage of the 21st Century Cures Act gave bipartisan support to a meaningful initiative in a turbulent political environment. How that translates into passable, actionable, impactful legislation in an expedited fashion remains to be seen.

There is opportunity to build Cures 2.0 to swiftly put wind in the sails of full interoperability of EHRs by making patient data access a key driver of change in placing into the hands of every patient, and their health care providers, the full data of their medical records easily, completely, and understandably.

· T.J. Sharpe, Medable PAC member

As part of the Act, the FDA was required to develop a patient-focused drug development (PFDD) guidance, which helped to increase the visibility of rare diseases at the agency. Through both internal and external PFDD meetings, many industry guidance documents were created for rare conditions.

With 2.0, we should see a focus on pushing these guidance documents out, and finding ways to create metrics to assure the patient voice is included in the regulatory process.

· Jenn McNary, Medable PAC member

Dr. Stephen Hahn, the newly-appointed head of the FDA, discussed three areas of focus at the organization's first all-hands meeting that roughly align with Cures 2.0 priorities: unleashing the power of data, empowering patients and consumers, and supporting innovation and competition. With the FDA seemingly on board with the concepts being presented, there is alignment between Congress and the regulatory agencies on top priorities, which should lead to a more significant influence on the industry converging on commonalities.

1. Digital Health Technologies

As advisors to a technology company within digital health, it is part of our role to be familiar with the areas of weaknesses, pain points, and the opportunities for advancing technologies within the healthcare world - specifically where they are impactful to patients and caregivers. The evolution of technologies will open doors to greater knowledge, greater access, greater support, and, likely, greater outcomes.

There are countless ways an individual could utilize ingrained digital technologies in their health care. Monitoring with mobile devices and services. Personalized information access across digital channels, giving a better picture of overall health. Telemedicine, allowing better access to experts or specialists (particularly in hard to reach populations) while reducing the impact on the quality of life for patients, caregivers, and the Healthcare Professionals (HCPs) who serve them.

We would like to see thinking outside the status quo. Provide all private and Medicare insurance patients with specific reimbursements, linked to their diagnoses, to spend for technology-delivered care they want to access when they want to access it.

· Ingrid Oakley-Girvan, Medable SVP of Research and Strategy

 

Until technology-based solutions such as internet-based video conferencing, mobile apps, and health/fitness trackers are covered by payers, it will be difficult to increase access and show the effectiveness of technology to address health disparities.

· Joni Venticinque, Medable PAC Member

With the development of new therapies for rare and fatal disease, patients need an earlier diagnosis to lead to better outcomes. We know that one-time curative approaches that are now being studied in patients will need to be applied early in the disease process to make the most significant impact. There currently is a distinct gap in care when it comes to diagnostic testing access. Only a handful of known fatal diseases are tested for at birth, leaving families to struggle, sometimes for years, searching for an accurate diagnosis. Insurance often covers more invasive and less accurate tests when full genetic testing would lead to a much faster and accurate diagnosis.

I would like there to be a focus on better access: to testing, better diagnostics, and earlier whole genome sequencing (expanding the newborn screening tests).

· Jenn McNary, Medable PAC member

Digital health is positioned to transform the conduct of clinical trials and the experience of trial participants by removing many of the barriers to trial participation. Logistic issues are a primary driver of under-enrollment in clinical studies for the medically underserved; the physical location of the study, the number of study visits required, and the time commitment required by the study. The tools and technologies now exist to bring clinical trials options to patients unable to make it to a research site in a scaleable, reliable manner. Remote participation can be facilitated via mobile technologies and better mobile trial design, resulting in broader participation, more representative population results, and a faster timeline to make treatments available.

Ideally, these advances in clinical research access can serve to build awareness of clinical research as a care option, particularly for those segments of the population - the homebound; those with limited transportation options; patients unable to make traditional appointments - for whom clinical research participation has been exclusionary. Perhaps the Digital Health Innovation Action Plan can help guide the development of new technologies that can more easily reach historically under-enrolled and underserved patient populations.

· Richie Kahn, Medable PAC member

According to recent surveys, rates of smartphone ownership are 71% for both low-income populations and rural populations. By interacting with the study and researchers via mobile devices, patients can take part in research without having to visit a hospital or site. This technology can increase inclusiveness and diversity, and represent much-needed improvements that have the potential to substantially increase our understanding of disease, how potential therapies work for all patient groups, and capture real-world data to drive new research.

Recruiting study participants is one of the most challenging tasks in the clinical trial process, and arguably one of the biggest barriers to success in clinical research. Enrollment of minority racial/ethnic groups and the medically underserved are particularly unrepresented in clinical trials considering their populations' incidence rate of cancer.

· Joni Venticinque, Medable PAC Member

2. Coverage Reform

Coverage reform encompasses a broad array of topics, including government-funded coverage that currently exists in Medicare and Medicaid. In the digital space, this reform can accompany digital health initiatives already discussed to rapidly implement and adopt meaningful, patient-impactful programs to achieve better healthcare outcomes with less burden. However, without billing codes or other mechanisms to generate revenue, technology companies are unlikely to innovate in this space. Coverage billing codes are essential for technology-based solutions to reach patients when and where they want.

We must do a better job providing rural, mobility-limited, and geriatric patients with rapid access to care solutions. Technology can provide that access through telemedicine and mobile apps for precision education and clinical trial pre-screening.

· Ingrid Oakley-Girvan, Medable SVP of Research and Strategy

Faster approval for rare disease treatments, through the accelerated approval pathway, has highlighted a need for better oversight in the access and reimbursement area. State Medicaid programs are a particularly bad actor, so enforcement of coverage of innovative therapies would be a fantastic achievement for Cures 2.0.

Threatening access to newly approved therapies are entities like ICER, which seek to de-value and result in non-coverage of these novel and often expensive treatments. Cures 2.0 should seek to ban the use of such valuations, which do not serve patients in any way and stifles innovation.

· Jenn McNary, Medable PAC member

Another possible area for significant impact on patients is the ability to shop for the payers who offer digital health as part of their plans. Insurance companies could be rated on their adoption of technology solutions considered in-network, and a score maintained so patients who prefer - or need - technology-based care could shop for providers that reimburse for the types of healthcare solutions they want. The model already exists - ask anyone who has eaten at a New York City restaurant.

There are many levers in the health provision ecosystem. Creating an environment that provides clarity around the benefits of newer innovations, such as digital health and personalized medicine, is a stepping stone for getting these enhancements paid. Providing the ability to pull levers to motivate both the development of solutions and their adoption is critical to innovation, implementation, and wide-scale adoption.

3. Data Empowerment

Two major provisions in the 21st Century cures act addressed the use of patient information: promoting patient access to their medical records and penalizing HCPs and Health IT systems for "information blocking." These innovations are still struggling to take hold, but Cures 2.0 should build on these first steps to further break down barriers to data access. The results of interoperability have yet to trickle down into everyday medicine, and patients still have a difficult time piecing together the entire picture of their medical history.

More troubling, physicians also have a difficult time accessing patient health information outside of their network and integrating that information to provide a holistic view of a patient's health status. Support for innovative platforms is necessary, but equally important are guidelines on integrating data access in real-world settings. Shiny, new tools and technologies will not positively affect the patient experience, and the patient's health outcomes, if they are cumbersome to integrate or significant barriers (both real and perceived) exist. That paper forms are still an integral part of many physician visits is telling about the pace of adoption.

Patients should be empowered to specify how and when their data are shared; not only could this contribute to countless health research initiatives, but it could also offer the patient more information into their own disease journey, enable earlier and better insights on how treatments are affecting them, and stratify results and likely outcomes in a more specific, personalized way to include the advancement of digital biomarkers and phenotypic mapping. Gaining data access to similar patients, with similar conditions and health profiles, is only the first step. Enabling like vs. like comparisons, instead of bigger population ones, now gives data meaning at a more granular, actionable level, improving therapies by enriching populations and having higher efficacy due to patient similarities.

 

Two areas of data empowerment that can have an immediate impact with relatively low integration efforts are Real World Data/Real World Evidence (RWD/RWE), and clinical trial results return. In the RWD/RWE realm, this means reaching beyond the existing eCOA/ePRO solutions and embracing the rapidly changing, and rapidly expanding, suite of technologies to capture, measure, and extrapolate data for both more personalized healthcare and better population health information. The needed collaboration between regulatory, industry, and healthcare institutions is possible - ASCO's CancerLinQ being a prime example - but initiation, momentum, and funding across the healthcare landscape for widespread RWE capture and utilization would benefit exponentially from legislative support.

For clinical trials, there is significant opportunity to both publish ALL trial results - a simple, basic step mandated by law - and returning specific trial results to participants. Getting results back to clinicaltrials.gov is simply a matter of enforcing legislation already in place. Failure to report the results of a clinical trial diminishes the critical contribution of study participants, keeps valuable evidence from being used in clinical practice, and results in wasted resources spent on medical research. That this is still an issue (that the NIH and FDA continually turn a blind eye to) is frustrating and derogatory to optimal patient outcomes. Even "clinical trial shaming" has not significantly moved the needle for basic trial results reporting; one of every three trials do not report results, and the FDAAAA of 2007 allows for fines of $10,000/day for non-compliance. There is a staggering $7.5 BILLION in fines that could have been imposed and wasn't, money that could fund numerous 21st Century Cures and Cures 2.0 initiatives while, theoretically, addressing one of the things the Acts are trying to fix.

Related, it is absurdly simple to broadcast updates on clinical trials, on an opt-in basis at the trial or biologic level. Creating a common, standard, vetted method of allowing patients, caregivers, family, and any other interested party to opt-in would satisfy the need for patients to understand what the outcome was of their contribution to medicinal progress.

That trial results, and their impact on a group of patients, are still being withheld is a travesty. Patients sacrifice their time, their biology, and their privacy to enable treatments to get to other patients - and allow pharmaceutical companies to develop, patent, market, and profit off of drugs based on those sacrifices. The ease of information distribution is only trumped by the industry's consistent reluctance to make results return a priority instead of a nuisance and compliance cop-out. Clear, ENFORCED regulation would be a significant win for patients at negligible costs for trial sponsors.

· T.J. Sharpe, PAC member

 

While the publication of clinical trial data are a must, it is merely the first step in overhauling the information sharing process. Patients are still impacted by their Electronic Medical Records systems holding data hostage, as opposed to sharing a 360-degree view of that patient's health with ALL of their healthcare providers, including their study trial team. Creating seamless, secure, and comprehensive medical records will impact treatment efficacy and, more importantly, patient safety. Concomitant medications and medical history cannot be inadvertently forgotten if this data are linked to a patient electronically. Deterministic data matching is a must to help improve outcomes.

4. Healthcare Support

The topic of healthcare support touches every patient, and caretaker, on the Medable PAC. Increased support - through literacy, caregiver support, treatment options, and financial support - are known to better clinical outcomes, improve patient satisfaction, and assist with coping. Support of some type exists for nearly every patient, but too often, they are siloed, poorly funded, and are unable to be easily accessed by the patient/caregiver at the exact time of need. It is a need that has been articulated by patient communities across all demographics.

I am particularly heartened by the desire to improve the ability of families and caregivers to support their loved ones. I love the focus on health literacy and the recognition and focus on the caregiver as well.

· Richie Kahn, Medable PAC member

At the 2019 American Society of Hematology annual meeting, evidence was presented that disparities in cancer care for the socioeconomically disadvantaged may disappear with broader support mechanisms in place. Although this was one study of one disease at one institution, the implications are widespread across the entire healthcare ecosystem. If patient navigation was a billed/covered expense, then its effectiveness regarding patient outcomes and costs could be measured.

Patient navigation and health literacy are paramount for positive healthcare outcomes. Patient navigation services have been rapidly expanding but with no consensus as to what is actually done. It is known that navigation services can help coordinate patient care so that nothing "falls through the crack," connects patients and caregivers with needed social and financial support, and helps patients understand their diagnosis and their treating healthcare system.

· Joni Venticinque, Medable PAC Member

To help patients get assistance, metrics for incorporating the patient voice in healthcare are needed; as a Council, we have encouraged Medable to develop a strategy for measuring the effectiveness of PAC to refine our impact to the company and to the patient groups they serve - and we represent. Quantifying protocol co-creation is one step towards requiring patients with a disease to be equally represented during the design and revision process.

The California Breast Cancer Research Program (CBCRP) describes the benefits of patients being integral to research:

A growing body of evidence shows that health and medical research benefits from being directly informed by the experiences and knowledge of those affected: those who have or had the disease, those who care for people with the disease or those who represent a specific community impacted by the disease. These people can become advocates for their community by helping scientists identify the needs of patients, families and communities and offering a practical perspective on research topics, methods and results.

 

As educated patients and caregivers, the members of the Medable PAC applaud the inclusion of more significant healthcare support as a top priority of Cures 2.0.

Looking Ahead

Since the 21st Century Cures Act was passed in late 2016, progress has been made towards several of the Act's stated goals. The second iteration, Cures 2.0, looks to build on the momentum generated by the original legislation while also better incorporating the needs of patients, caregivers, and their families.

The three industry/technology areas of focus - digital health technologies, coverage reform, and data empowerment - all have similar themes flowing through them. Get the right information into the right hands at the right time to make the right decision for every medical situation. That can mean standardizing and utilizing the digital innovations already in existence to positively disrupt patient access to personalized diagnoses and medicines, including clinical trials. It can mean revamping the coverage ecosystem to empower patients as the driver of their health decisions, instead of the payer. It means capturing the right data, being able to use it, and then ensuring that it is available to use for every person at every provider, every time.

The topic that hits especially close to home for many, the Medable PAC included, though, is healthcare support. Higher-quality and better-tailored support can provide improved access and information, leading to a higher quality of life, fewer burdens, and, hopefully, better outcomes - all which impact the patient and their support system.

It takes the voice and the will of the people to transform how healthcare is delivered. As a collective patient voice, the Medable Patient Advisory Council members are committed to representing that voice as a guiding force towards building a better healthcare experience for all as we support the objectives of Cures 2.0.

 

Topics: PAC