Stem Cells Profiles in Courage: Frank’s final gift

frank-st-clair

Not every story has a happy ending. But they do all have something to teach us. In the case of Frank St. Clair the lesson was simple: live life fully and freely, love those around you, and never give up.

We were fortunate enough to get to know Frank as one of the people we profiled in our 2016 Annual Report. Frank was a patient in a clinical trial we are funding to test a new kind of bioengineered vein needed by people undergoing hemodialysis, the most common form of dialysis.

It was an all too brief friendship. Frank passed away on December 17th due to complications from heart disease. But in that time he touched us with his warmth, his kindness, his sense of humor and his generosity. Frank never gave up. He kept fighting to the end. His courage, and compassion for others is a reminder to us that we need to work as hard as we can, to bring treatments to those who need them most.

This is Frank’s story, in his own words:

“I have kidney disease. Had it about four years. When I first started dialysis I had a shunt in my chest.  I had to be careful with the shunt, especially at night, in case I pulled it out. It kept clogging up on me and I’d have to go in and get it reopened and that was a terrible thing.

One time when they were opening up the shunt in my chest I ran into the doctor and I got talking to him. He knew how miserable I was and he asked if I wanted to take part in this clinical trial. I said I did and they arranged for me to get this, the device. I just lucked out and was in the right place at the right time. Best move I ever made. Didn’t know anything about stem cells then, sure didn’t, I just knew I was miserable and if there was any way to make life better I just wanted to do it or try it.

And then I did this and it was like day and night.

Since I’ve done this my life has improved 100%. I can do a lot now that I couldn’t do before. My wife and I are so grateful that we can have this. Now we can go out to dinner and do anything we want. We could go out before but we had to always be careful because of the thing in my chest. But now I don’t even think about it. It’s like getting my life back.

I don’t notice it all. I don’t feel it at all. I hate to say it, but I can’t believe I’m on dialysis. I would like to have a kidney but I’ll be honest with you this is the next best thing.

When I go to the clinic there’s a lot of old people there and I just try to make them laugh, tell them jokes, I just can’t believe how good I feel and I want to make others feel good too.

I take the time to talk to them, and give them gum and that cheers them up. My wife has to keep me supplied with gum.

I’ve been married 45 years. We met in high school chorus. I didn’t care too much about singing but I went to chorus because I wanted to meet girls. That’s where I met Paula. Best move I ever made.

I sure don’t feel old. My wife and I are two people that love each other very dearly, that’s my blessing, with her help I couldn’t get old.

I’m a workaholic but until I got the Humacyte device I couldn’t work. I had to sell my business.

I used to be a private detective. It had its moments. My wife used to get mad because I got up at 2 or 3 in the morning to get someone who was in hiding. I had one guy, he was about 6’ 7”, big guy. I knocked at the door and said the name of the guy I was looking for, and asked if he was there. He asked why, so I told him why I was there and he said “It’s me,” and ran right over me and knocked me on the ground and ran away. But I managed to talk him into coming back.

We served a lot of papers on foreclosures and I hated that, and I would always try and help those people if I could.

One time I ran into an old lady, she was a nice woman, and her husband handled all the bills but he died and they had stock in Bernie Madoff’s company and when he went under it left her broke.  They had $1.7 million in a company that went bankrupt. She lost it all. She didn’t know what to do. When I went to serve her papers she hadn’t eaten in two days,  so I went and bought her and brought some groceries and made sure the electric bill got paid and then called her son and made sure she was taken care of.

My wife said we were going broke helping so many people, but I felt that if you help people it comes back to you and it has.

I volunteer at the VA, help out there when I can. Just trying to give back. Always have. I think if you can help someone you need to do it.

I feel damn lucky, really lucky, more ways than one. You have to understand I have lived 50 years longer than I should have; I could have died in Vietnam, so I would just say do not give up. Don’t give up. My wife wouldn’t let me give up, and things happen. If they are meant to be, of course. Something will happen and I’m telling you. The key is making people around you feel like they want to be around you.”

We are forever grateful to Frank for being willing to be part of a clinical trial that will, hopefully, improve the quality of life for many others. That is his legacy. Our thoughts and wishes go out to his wife Paula

Life after SPARK: CIRM high school intern gets prestigious scholarship to Stanford

As part of our CIRM scholar blog series, we’re featuring the research and career accomplishments of CIRM funded students.

Ranya Odeh

Ranya Odeh

Meet Ranya Odeh. She is a senior at Sheldon high school in Elk Grove, California, and a 2016 CIRM SPARK intern. The SPARK program provides stem cell research internships to underprivileged high school students at leading research institutes in California.

This past summer, Ranya worked in Dr. Jan Nolta’s lab at UC Davis improving methods that turn mesenchymal stem cells into bone and fat cells. During her internship, Ranya did an excellent job of documenting her journey in the lab on Instagram and received a social media prize for her efforts.

Ranya is now a senior in high school and was recently accepted into Stanford University through the prestigious QuestBridge scholarship program. She credits the CIRM SPARK internship as one of the main reasons why she was awarded this scholarship, which will pay for all four years of her college.

I reached out to Ranya after I heard about her exciting news and asked her to share her story so that other high school students could learn from her experience and be inspired by her efforts.


How did you learn about the CIRM SPARK program?

At my high school, one of our assignments is to build a website for the Teen Biotech Challenge (TBC) program at UC Davis. I was a sophomore my first year in the program, and I didn’t feel passionate about my project and website. The year after, I saw that some of my friends had done the CIRM SPARK internship after they participated in the TBC program. They posted pictures about their internship on Instagram, and it looked like a really fun and interesting thing to do. So I decided to build another website (one that I was more excited about) in my junior year on synthetic biology. Then I entered my website in the TBC and got first prize in the Nanobiotechnology field. Because I was one of the winners, I got the SPARK internship.

What did you enjoy most about your SPARK experience?

For me, it was seeing that researchers aren’t just scientists in white lab coats. The Nolta lab (where I did my SPARK internship) had a lot of personality that I wasn’t really expecting. Working with stem cells was so cool but it was also nice to see at the same time that people in the lab would joke around and pull pranks on each other. It made me feel that if I wanted to have a future in research, which I do, it wouldn’t be doing all work all the time.

What was it like to do research for the first time?

Ranya taking care of her stem cells!

Ranya taking care of her stem cells!

The SPARK internship was my first introduction to research. During my first experiment, I remember I was changing media and I thought that I was throwing my cells away by mistake. So I freaked out, but then my mentor told me that I hadn’t and everything was ok. That was still a big deal and I learned a lesson to ask more questions and pay more attention to what I was doing.

Did the SPARK program help you when you applied to college?

Yes, I definitely feel like it did. I came into the internship wanting to be a pharmacist. But my research experience working with stem cells made me want to change my career path. Now I’m looking into a bioengineering degree, which has a research aspect to it and I’m excited for that. Having the SPARK internship on my college application definitely helped me out. I also got to have a letter of recommendation from Dr. Nolta, which I think played a big part as well.

Tell us about the scholarship you received!

I got the QuestBridge scholarship, which is a college match scholarship for low income, high achieving students. I found out about this program because my career counselor gave me a brochure. It’s actually a two-part scholarship. The first part was during my junior year of high school and that one didn’t involve a college acceptance. It was an award that included essay coaching and a conference that told you about the next step of the scholarship.

The second part during my senior year was called the national college match scholarship. It’s an application on its own that is basically like a college application. I submitted it and got selected as a finalist. After I was selected, they have partner colleges that offer full scholarships. You rank your choice of colleges and apply to them separately with a common application. If any of those colleges want to match you and agree to pay for all four years of your college, then you will get matched to your top choice. There’s a possibility that more than one college would want to match you, but you will only get matched with the one that you rank the highest. That was Stanford for me, and I am very happy about that.

Why did you pick Stanford as your top choice?

It’s the closest university to where I grew up that is very prestigious. It was also one of the only colleges I’ve visited. When I was walking around on campus, I felt I could see myself there as a student and with the Stanford community. Also, it will be really nice to be close to my family.

What do you do in your free time?

I don’t have a lot of free time because I’m in Academic Decathalon and I spend most of my time doing that. When I do have free time, I like to watch Netflix, blogs on YouTube, and I try to go to the gym [laughs].

Did you enjoy posting about your SPARK internship on Instagram?

I had a lot of fun posting pictures of me in the lab on Instagram. It was also nice during the summer to see other SPARK students in different programs talk about the same things. We shared jokes about micropipettes and culturing stem cells. It was really cool to see that you’re not the only one posting nerdy science pictures. I also felt a part of a larger community outside of the SPARK program. Even people at my school were seeing and commenting on what I was doing.

UC Davis CIRM SPARK program 2016

UC Davis CIRM SPARK program 2016

I also liked that I got feedback about what I was doing in the lab from other SPARK students. When I posted pictures during my internship, I talked about working with mesenchymal stem cells. Because we all post to the same #CIRMSPARKlab hashtag, I saw students from CalTech commenting that they worked with those stem cells too. That motivated me to work harder and accomplish more in my project. Instagram also helped me with my college application process. I saw that there were other students in the same position as me that were feeling stressed out. We also gave each other feedback on college essays and having advice about what I was doing really helped me out.

Do you think it’s important for students to be on social media?

Yes, I think it’s important with boundaries of course. There are probably some people who are on social media too often, and you should have a balance. But it’s nice to see what other students are doing to prepare for college and to let loose and catch up with your friends.

What advice would you give to younger high school students about pursuing science?

I feel like students can’t expect things to be brought to them. If they are interested in science, they need to take the initiative to find something that they are going to want to do. The CIRM internship was brought to my attention. But I have friends that were interested in medicine and they found their own internships and ways to learn more about what they wanted to do. So my advice is to take initiative and not be scared of rejection, because if you’re scared of rejection you’re not going to do anything.

To hear more about Ranya’s SPARK internship experience, read her blog “Here’s what you missed this summer on the show coats.” You can also follow her on Instagram and Twitter. For more information about the CIRM SPARK internship program, please visit the CIRM website.


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Stem Cell Profiles in Courage: Karl’s Fight with Cancer

Karl Trede

Karl Trede

When I think of a pioneer I have an image in my head of people heading west across the Americans plains in the 18th century, riding in a covered wagon pulled by weary oxen.

Karl Trede doesn’t fit that image at all. He is a trim, elegant man who has a ready smile and a fondness for Hawaiian shirts. But he is no less a pioneer for all that. That’s why we profiled him in our 2016 Annual Report.

In 2006 Karl was diagnosed with cancer of the throat. He underwent surgery to remove his vocal chords and thought he had beaten the cancer. A few years later, it came back. That was when Karl became the first person ever treated in a CIRM-funded clinical trial testing a new anti-tumor therapy targeting cancer stem cells that so far has helped hold the disease at bay.

Here is Karl’s story, in his own words:

“I had some follow-up tests and those showed spots in my lungs. Over the course of several years, they saw those spots grow, and we knew the cancer had spread to my lungs. I went to Stanford and was told there was no effective treatment for it, fortunately it was slow growing.

Then one day they said we have a new clinical trial we’re going to start would you be interested in being part of it.

I don’t believe I knew at the time that I was going to be the first one in the trial [now that’s what I call a pioneer] but I thought I’d give it a whirl and I said ‘Sure’. I wasn’t real concerned about being the first in a trial never tested in people before. I figured I was going to have to go someday so I guess if I was the first person and something really went wrong then they’d definitely learn something; so, to me, that was kind of worth my time.

Fortunately, I lasted 13 months, 72 treatments with absolutely no side effects. I consider myself really lucky to have been a part of it.

It was an experience for me, it was eye opening. I got an IV infusion, and the whole process was 4 hours once a week.

Dr. Sikic (the Stanford doctor who oversees the clinical trial) made it a practice of staying in the room with me when I was getting my treatments because they’d never tried it in people, they’d tested it in mice, but hadn’t tested it in people and wanted to make sure they were safe and nothing bad happened.

The main goals of the trial were to define what the side effects were and what the right dose is and they got both of those. So I feel privileged to have been a part of this.

My wife and I (Vita) have four boys. They’re spread out now – two in the San Francisco Bay Area, one in Oregon and one in Nevada. But we like to get together a few times a year. They’re all good cooks, so when we have a family get together there’s a lot of cooking involved.

The Saturday after Thanksgiving, in 2015, the boys decided they wanted to have a rib cook-off for up to around 30 people and I can proudly say that I kicked their ass on the rib cook-off. I have an electric cooker and I just cook ‘em slow and long. I do a cranberry sauce, just some home made bbq sauces

I’m a beef guy, I love a good steak, a good ribeye or prime rib, I make a pretty mean Oso bucco, I make a good spaghetti sauce, baked chicken with an asparagus mousse that is pretty good.

I just consider myself a lucky guy.”

Karl Trede with CIRM President Randy Mills at the 2016 December Board meeting.

Karl Trede with CIRM President Randy Mills at the 2016 December Board meeting.


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Stem Cell Profiles in Courage: Brenden Whittaker

brenden-and-dog

Brenden Whittaker: Photo Colin McGuire

It’s not often you meet someone who says one of their favorite things in the world is mowing the lawn. But then, there aren’t many people in the world like Brenden Whittaker. In fact, as of this writing, he may be unique.

Brenden was born with severe chronic granulomatous disease (x-CGD), a rare genetic disorder that left him with an impaired immune system that was vulnerable to repeated bacterial and fungal infections. Over 22 years Brenden was in and out of the hospital hundreds of times, he almost died a couple of times, and lost parts of his lungs and liver.

Then he became the first person to take part in a clinical trial to treat x-CGD. UCLA researcher Don Kohn had developed a technique that removed Brenden’s blood stem cells, genetically re-engineered them to correct the mutation that caused the disease, and then returned those stem cells to Brenden. Over time they created a new blood system, and restored Brenden’s immune system.

He was cured.

We profiled Brenden for our 2016 Annual Report. Here’s an extended version of the interview we did with him, talking about his life before and after he was cured.

brenden_stories_of_hope

Brenden with a CIRM Game Ball – signed by everyone at CIRM

Brenden’s story:

I still think about it, my disease, every few days or so and it’s weird because in the past I was sick so often; before this year, I was sick consistently for about 5 years and going to doctor’s appointments 2 or 3 times a week and being in the hospital. So, it’s weird having a cough and not having to be rushed to the ER, not having to call someone every time the smallest thing pops up, and not having to worry about what it means.

It’s been good but it’s been weird to not have to do that.  It’s a nice problem to have.

What are you doing now that you didn’t do before?

Cutting the grass is something I couldn’t do before, that I’ve taken up now. Most people look at me as if I’m crazy when I say it, but I love cutting grass, and I wasn’t able to do it for 22 years of my life.

People will complain about having to pick up after their dog goes to the bathroom and now I can follow my dog outside and can pick up after her. It really is just the little things that people don’t think of. I find enjoyment in the small things, things I couldn’t do before but now I can and not have to worry about them.

The future

I was in the boy scouts growing up so I love camping, building fires, just being outdoors. I hiked on the Appalachian Trail. Now I’ll be able to do more of that.

I have a part time job at a golf course and I’m actually getting ready to go back to school full time in January. I want to get into pre-med, go to medical school and become a doctor. All the experience I’ve had has just made me more interested in being a doctor, I just want to be in a position where I can help people going through similar things, and going through all this just made me more interested in it.

Before the last few months I couldn’t schedule my work more than a week in advance because I didn’t know if I was going to be in the hospital or what was going on. Now my boss jokes that I’m giving him plans for the next month or two. It’s amazing how far ahead you can plan when you aren’t worried about being sick or having to go to the hospital.

I’d love to do some traveling. Right now most of my traveling consists of going to and from Boston (for medical check-ups), but I would love to go to Europe, go through France and Italy. That would be a real cool trip. I don’t need to see everything in the world but just going to other countries, seeing cities like London, Paris and Rome, seeing how people live in other cultures, that would be great.

Advice for others

I do think about the fact that when I was born one in a million kids were diagnosed with this disease and there weren’t any treatments. Many people only lived a few years. But to be diagnosed now you can have a normal life. That’s something all on its own. It’s almost impossible for me to fathom it’s happening, after all the years and doctor’s appointments and illnesses.

So, for people going through anything like this, I’d say just don’t give up. There are new advances being made every day and you have to keep fighting and keep getting through it, and some day it will all work out.


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Stem Cells Profile in Courage: Pat Furlong, Patient Advocate

pat-furlong

Pat Furlong: Photo by Colin McGuire – http://www.colinmcguire.com

One of the true joys for me in helping put together this year’s Annual Report was getting to know the patients and patient advocates that we profiled in the report. These are some extraordinary individuals and the short profiles we posted only touch the surface of just how extraordinary.

So, over the next few weeks we are going to feature four of these people at greater length, allowing them, in their own words, to talk about what makes them tic, and how they keep going in the face of what is often heartbreak and tragedy.

We begin with Pat Furlong, a Patient Advocate and the Founding President and CEO of Parent Project Muscular Dystrophy (PPMD), the largest nonprofit organization in the United States solely focused on Duchenne muscular dystrophy (DMD).

DMD is the most common fatal, genetic childhood disorder, which affects approximately 1 out of every 3,500 boys each year worldwide. It’s a progressive muscle disorder that leads to loss of muscle function, meaning you lose your ability to walk, to use your arms, and ultimately to breathe. And because the heart is a muscle, that is often seriously affected. There is no cure, and treatment options are limited. At the time her sons were diagnosed life expectancy was in the teens.

Pat’s story:

“When my sons, Chris and Pat were diagnosed with DMD, at the ages of 4 and 6, there was nothing available for them. Doctors cared about them but they didn’t have the tools they needed, or the National Institutes of Health the money it needed to do research.

Doctors were faced with diagnosing a disease and saying “there’s nothing we can do”. And then parents like me, coming to them hearing there was nothing they could do, no hope, no help. When your son is diagnosed with something like this you are told go home and love them.

When I asked questions, I was often ignored or dismissed by some doctors.

When my sons were diagnosed with DMD I would drop them off at school and go walking and that would help me deal with the anger.

For me staying in this is to be able to say to Chris and Pat in the universe, when you were here I tried my very best and when you were gone I continued to try my best so that others would have advantages that you didn’t receive.

I haven’t stood back and said I can’t go on.

The family is all scarred, we all suffered this loss. It’s much more apparent when we are together, there are empty chairs, emptiness. If we go to a family gathering we wish Chris and Pat were here, could be married. Now there’s my husband and our two daughters. We have a granddaughter, who is wonderful, but still we are incomplete and we will live with that forever.

I am trained as a nurse and I find DMD equal parts fascinating disease, heartbreaking and painful. I try to emphasize the fascinating so I can keep going. There are frustrations; lack of money, the slow process of regulatory approval, but I have an incredible team of very smart people and we are passionate about change so that helps keep us going.

Your only interest can’t be DMD, it can’t be. For me it’s certainly a priority, but it’s not my only interest. I love to go to an art museum and see how creative people work. I love Cirque du Soleil because they do things with their muscles I can’t imagine. Going outside and seeing these things makes the world better.

I am interested in the expression of art, to see how people dress, to see how people are creative, I love creativity, I think the human spirit is pretty amazing and the creativity around it. I think we are all pretty amazing but sometimes we don’t say it enough.

I recently saw a woman on the subway with a pair of tennis shoes that said “you are beautiful” and people around her were looking at her shoes and smiling, just because of those shoes. We forget to interact, and that was such a simple way of doing that.

bucket-feet

 

I relax by doing yoga, 90-minute hot yoga, as often as I can. I’ve also done a number of half marathons, but I’m more a walker than a runner. I find getting outside or hot yoga makes me concentrate on what I’m doing so that I can’t think of anything else. I can put it down and think about nothing and whisper prayers to my sons and say am I doing the right thing, is there something I should be doing differently? It’s my time to think about them and meditate about what they think would be important.

You need to give your mind time to cope, so it’s putting your phone down and your computer away. It’s getting rid of those interruptions. To put the phone, the computer down and get in a hot room and do yoga, or run around outside, to look at a tree and think about the changing season, the universe, the sun. It’s an incredible break for the brain to be able to rest.

I think the disease has made us kinder people and more thoughtful. When Chris died, we found a notebook he kept. In it was written “the meaning of life is a life of meaning”. I think that’s where we have all landed, what we all strive for, a life of meaning.

 

 

 

Key Steps Along the Way To Finding Treatments for HIV on World AIDS Day

Today, December 1st,  is World AIDS Day. It’s a day to acknowledge the progress that is being made in HIV prevention and treatment around the world but also to renew our commitment to a future free of HIV. This year’s theme is Leadership. Commitment. Impact.  At CIRM we are funding a number of projects focused on HIV/AIDS, so we asked Jeff Sheehy, the patient advocate for HIV/AIDS on the CIRM Board to offer his perspective on the fight against the virus.

jeff-sheehy

At CIRM we talk about and hope for cures, but our actual mission is “accelerating stem cell treatments to patients with unmet medical needs.”

For those of us in the HIV/AIDS community, we are tremendously excited about finding a cure for HIV.  We have the example of Timothy Brown, aka the “Berlin Patient”, the only person cured of HIV.

Multiple Shots on Goal

Different approaches to a cure are under investigation with multiple clinical trials.  CIRM is funding three clinical trials using cell/gene therapy in attempts to genetically modify blood forming stem cells to resist infection with HIV.  While we hope this leads to a cure, community activists have come together to urge a look at something short of a “home run.”

A subset of HIV patients go on treatment, control the virus in their blood to the point where it can’t be detected by common diagnostic tests, but never see their crucial immune fighting CD4 T cells return to normal levels after decimation by HIV.

For instance, I have been on antiretroviral therapy since 1997.  My CD4 T cells had dropped precipitously, dangerous close to the level of 200.  At that level, I would have had an AIDS diagnosis and would have been extremely vulnerable to a whole host of opportunistic infections.  Fortunately, my virus was controlled within a few weeks and within a year, my CD T cells had returned to normal levels.

For the immunological non-responders I described above, that doesn’t happen.  So while the virus is under control, their T cell counts remain low and they are very susceptible to opportunistic infections and are at much greater risk of dying.

Immunological non-responders (INRs) are usually patients who had AIDS when they were diagnosed, meaning they presented with very low CD4 T cell counts.  Many are also older.  We had hoped that with frequent testing, treatment upon diagnosis and robust healthcare systems, this population would be less of a factor.  Yet in San Francisco with its very comprehensive and sophisticated testing and treatment protocols, 16% of newly diagnosed patients in 2015 had full blown AIDS.

Until we make greater progress in testing and treating people with HIV, we can expect to see immunological non-responders who will experience sub-optimal health outcomes and who will be more difficult to treat and keep alive.

Boosting the Immune System

A major cell/gene trial for HIV targeted this population.  Their obvious unmet medical need and their greater morbidity/mortality balanced the risks of first in man gene therapy.  Sangamo, a CIRM grantee, used zinc finger nucleases to snip out a receptor, CCR5, on the surface of CD4 T cells taken from INR patients.  That receptor is a door that HIV uses to enter cells.  Some people naturally lack the receptor and usually are unable to be infected with HIV.  The Berlin Patient had his entire immune system replaced with cells from someone lacking CCR5.

Most of the patients in that first trial saw their CD4 T cells rise sharply.  The amount of HIV circulating in their gut decreased.  They experienced a high degree of modification and persistence in T stem cells, which replenish the T cell population.  And most importantly, some who regularly experienced opportunistic infections such as my friend and study participant Matt Sharp who came down with pneumonia every winter, had several healthy seasons.

Missed Opportunities

Unfortunately, the drive for a cure pushed development of the product in a different direction.  This is in large part to regulatory challenges.  A prior trial started in the late 90’s by Chiron tested a cytokine, IL 2, to see if administering it could increase T cells.  It did, but proving that these new T cells did anything was illusive and development ceased.  Another cytokine, IL 7, was moving down the development pathway when the company developing it, Cytheris, ceased business.  The pivotal trial would have required enrolling 4,000 participants, a daunting and expensive prospect.  This was due to the need to demonstrate clinical impact of the new cells in a diverse group of patients.

Given the unmet need, HIV activists have looked at the Sangamo trial, amongst others, and have initiated a dialogue with the FDA.  Activists are exploring seeking orphan drug status since the population of INRs is relatively small.

Charting a New Course

They have also discussed trial designs looking at markers of immune activity and discussed potentially identifying a segment of INRs where clinical efficacy could be shown with far, far fewer participants.

Activists are calling for companies to join them in developing products for INRs.  I’ve included the press release issued yesterday by community advocates below.

With the collaboration of the HIV activist community, this could be a unique opportunity for cell/gene companies to actually get a therapy through the FDA. On this World AIDS Day, let’s consider the value of a solid single that serves patients in need while work continues on the home run.

NEWS RELEASE: HIV Activists Seek to Accelerate Development of Immune Enhancing Therapies for Immunologic Non-Responders.

Dialogues with FDA, scientists and industry encourage consideration of orphan drug designations for therapies to help the immunologic non-responder population and exploration of novel endpoints to reduce the size of efficacy trials.

November 30, 2016 – A coalition of HIV/AIDS activists are calling for renewed attention to HIV-positive people termed immunologic non-responders (INRs), who experience sub-optimal immune system reconstitution despite years of viral load suppression by antiretroviral therapy. Studies have shown that INR patients remain at increased risk of illness and death compared to HIV-positive people who have better restoration of immune function on current drug therapies. Risk factors for becoming an INR include older age and a low CD4 count at the time of treatment initiation. To date, efforts to develop immune enhancing interventions for this population have proven challenging, despite some candidates from small companies showing signs of promise.

“We believe there is an urgent need to find ways to encourage and accelerate development of therapies to reduce the health risks faced by INR patients,” stated Nelson Vergel of the Program for Wellness Restoration (PoWeR), who initiated the activist coalition. “For example, Orphan Drug designations[i] could be granted to encourage faster-track approval of promising therapies.  These interventions may eventually help not only INRs but also people with other immune deficiency conditions”.

Along with funding, a major challenge for approval of any potential therapy is proving its efficacy. While INRs face significantly increased risk of serious morbidities and mortality compared to HIV-positive individuals with more robust immune reconstitution, demonstrating a reduction in the incidence of these outcomes would likely require expensive and lengthy clinical trials involving thousands of individuals. Activists are therefore encouraging the US Food & Drug Administration (FDA), industry and researchers to evaluate potential surrogate markers of efficacy such as relative improvements in clinical problems that may be more frequent in INR patients, such as upper respiratory infections, gastrointestinal disease, and other health issues.

“Given the risks faced by INR patients, every effort should be made to assess whether less burdensome pathways toward approval are feasible, without compromising the regulatory requirement for compelling evidence of safety and efficacy”, said Richard Jefferys of the Treatment Action Group.

The coalition is advocating that scientists, biotech and pharmaceutical companies pursue therapeutic candidates for INRs. For example, while gene and anti-inflammatory therapies for HIV are being assessed in the context of cure research, there is also evidence that they may have potential to promote immune reconstitution and reduce markers associated with risk of morbidity and mortality in INR patients. Therapeutic research should also be accompanied by robust study of the etiology and mechanisms of sub-optimal immune responses.

“While there is, appropriately, a major research focus on curing HIV, we must be alert to evidence that candidate therapies could have benefits for INR patients, and be willing to study them in this context”, argued Matt Sharp, a coalition member and INR who experienced enhanced immune reconstitution and improved health and quality of life after receiving an experimental gene therapy.

The coalition has held an initial conference call with FDA to discuss the issue. Minutes are available online.

The coalition is now aiming to convene a broader dialogue with various drug companies on the development of therapies for INR patients. Stakeholders who are interested in becoming involved are encouraged to contact coalition representatives.

[i] The Orphan Drug Act incentivizes the development of treatments for rare conditions. For more information, see:  http://www.fda.gov/ForIndustry/DevelopingProductsforRareDiseasesConditions/ucm2005525.htm

For more information:

Richard Jefferys

Michael Palm Basic Science, Vaccines & Cure Project Director
Treatment Action Group richard.jefferys@treatmentactiongroup.org

Nelson Vergel, Program for Wellness Restoration programforwellness@gmail.com

 

 

Don’t Sugar Coat it: A Patient’s Perspective on Type 1 Diabetes

John Welsh

John Welsh

“In the weeks leading up to my diagnosis, I remember making and drinking Kool-Aid at the rate of about a gallon per day, and getting up to pee and drink Kool-Aid several times a night. The exhaustion and constant thirst and the weight loss were pretty scary. Insulin saved my life, and it’s been saving my life every day for the past 40 years.” – John Welsh

 

In honor of diabetes awareness month, we are featuring a patient perspective on what it’s like to live with type 1 diabetes (T1D) and what the future of stem cell research holds in terms of a cure.

T1D is a chronic disease that destroys the insulin producing cells in your pancreas, making it very difficult for your body to maintain the proper levels of sugar in your blood. There is no cure for T1D and patients take daily shots of insulin and closely monitor their blood sugar to stay healthy and alive.

Stem cell research offers an alternative strategy for treating T1D patients by potentially replacing their lost insulin producing cells. We’ve written blogs about ongoing stem cell research for diabetes on the Stem Cellar (here) but we haven’t focused on the patient side of T1D. So today, I’m introducing you to John Welsh, a man whose has lived with T1D since 1976.

John Welsh is a MD/PhD scientist and currently works at a company called Dexcom, which make a continuous glucose monitoring (CGM) device for diabetes patients. He is also an enrolled patient in CIRM-funded stem cell clinical trial (also funded by JDRF) for T1D sponsored by the company ViaCyte. The trial is testing a device containing stem cell-derived pancreatic cells that’s placed under the skin to act as a transplanted pancreas. You can learn more about it here.

I reached out to John to see if he wanted to share his story about living with diabetes. He was not only willing but enthusiastic to speak with me. As you will read later, one of John’s passions is a “good story”. And he sure told me a good one. So before you read on, I recommend grabbing some coffee or tea, going to a quiet room, and taking the time to enjoy his interview.


Q: Describe your career path and your current job.

JW: I went to college at UC Santa Cruz and majored in biochemistry and molecular biology. I then went into the medical scientist training program (combined MD/PhD program) at UC San Diego followed by research positions in cell biology and cancer biology at UC San Francisco and Novartis. I’ve been a medical writer specializing in medical devices for type 1 diabetes since 2009. At Dexcom, I help study the benefits of CGM and get the message out to healthcare professionals.

Q: How has diabetes affected your life and what obstacles do you deal with because of diabetes?

JW: I found out I had T1D at the age of 13, and it’s been a part of my life for 40 years. It’s been a big deal in terms of what I’m not allowed to do and figuring out what would be challenging if I tried. On the other hand, having diabetes is a great motivator on a lot of levels personally, educationally and professionally. Having this disease made me want to learn everything I could about the endocrine system. From there, my interests turned to biology – molecular biology in particular – and understanding how molecules in cells work.

The challenge of having diabetes also motivated me to do things that I might not have thought about otherwise – most importantly, a career that combined science and medicine. Having to stay close to my insulin and insulin-delivery paraphernalia (early on, syringes; nowadays, the pump and glucose monitor) meant that I couldn’t do as many ridiculous adventures as I might have otherwise.

Q: Did your diagnosis motivate you to pursue a scientific career?

JW: Absolutely. If I hadn’t gotten diabetes, I probably would have gone into something like engineering. But my parents were both healthcare professionals, so a career in medicine seemed plausible. The medical scientist MD/PhD training program at UC San Diego was really cool, but very competitive. Having first-hand experience with this disease may have given me an inside track with the admissions process, and that imperative – to understand the disease and how best to manage it – has been a great motivator.

There’s also a nice social aspect to being surrounded by people whose lives are affected by T1D.

Q: Describe your treatment regimen for T1D?

JW: I travel around with two things stuck on my belly, a Medtronic pump and a Dexcom Continuous Glucose Monitor (CGM) sensor. The first is an infusion port that can deliver insulin into my body. The port lasts for about three days after which you have to take it out. The port that lives under the skin surface is nine millimeters long and it’s about as thick as a mechanical pencil lead. The port is connected to a tube and the tube is connected to a pump, which has a reservoir with fast-acting insulin in it.

The insulin pump is pretty magical. It’s conceptually very simple, but it transforms the way a lot of people take insulin. You program it so that throughout the day, it squirts in a tiny bit of basal insulin at the low rate that you want. If you’re just cruising through your day, you get an infusion of insulin at a low basal rate. At mealtimes, you can give yourself an extra squirt of insulin like what happens with normal people’s pancreas. Or if you happen to notice that you have a high sugar level, you can program a correction bolus which will help to bring it back to towards the normal range. The sensor continuously interrogates the glucose concentration in under my skin. If something goes off the rails, it will beep at me.

dexcom_g4_platinum_man

Dexcom continuous glucose monitor.

As good as these devices are, they’re not a cure, they’re not perfect, and they’re not cheap, so one of my concerns as a physician and as a patient is making these transformative devices better and more widely available to people with the disease.

Q: What are the negative side effects associated with your insulin pump and sensor?

JW:  If you have an insulin pump, you carry it everywhere because it’s stuck onto you. The pump is on you for three days and it does get itchy. It’s expensive and a bit uncomfortable. And when I take my shirt off, it’s obvious that I have certain devices stuck on me.  This is a big disincentive for some of my type 1 friends, especially those who like to wear clothes without pockets. And every once-in-a-while, the pump will malfunction and you need a backup plan for getting insulin when it breaks.

On the other hand, the continuous glucose monitoring (CGM) is wonderful especially for moms and dads whose kids have T1D. CGM lets parents essentially spy on their kids. You can be on the sidelines watching your kid play soccer and you get a push notification on your phone saying that the glucose concentration is low, or is heading in that direction. The best-case scenario is that this technology helps people avoid dangerous and potentially catastrophic low blood sugars.

Q: Was the decision easy or hard to enroll in the ViaCyte trial?

JW: It was easy! I was very excited to learn about the ViaCyte trial and equally pleased to sign up for it. When I found out about it from a friend, I wanted to sign up for it right away. I went to clinicaltrials.gov and contacted the study coordinator at UC San Diego. They did a screening interview over the phone, and then they brought me in for screening lab work. After I was selected to be in the trial, they implanted a couple of larger devices (about the size of a credit card) under the skin of my lower back, and smaller devices (about the size of a postage stamp) in my arm and lower back to serve as “sentinels” that were taken out after two or three months.

ViaCyte device

ViaCyte device

I’m patient number seven in the safety part of this trial. They put the cell replacement therapy device in me without any pre-medication or immunosuppression. They tested this device first in diabetic mice and found that the stem cells in the device differentiated into insulin producing cells, much like the ones that usually live in the mouse pancreas. They then translated this technology from animal models to human trials and are hoping for the same type of result.

I had the device transplanted in March of 2015, and the plan is for in the final explant procedure to take place next year at the two-year anniversary. Once they take the device out, they will look at the cells under the microscope to see if they are alive and whether they turned into pancreatic cells that secrete insulin.

It’s been no trouble at all having this implant. I do clinic visits regularly where they do a meal challenge and monitor my blood sugar. My experience being a subject in this clinical study has been terrific. I met some wonderful people and I feel like I’m helping the community and advancing the science.

Q: Do you think that stem cell-derived therapies will be a solution for curing diabetes?

JW: T1D is a great target for stem cell therapy – the premise makes a lot of sense — so it’s logical that it’s one of the first ones to enter clinical trials. I definitely think that stem cells could offer a cure for T1D. Even 30 years ago, scientists knew that we needed to generate insulin producing cells somehow, protect them from immunological rejection, and package them up and put them somewhere in the body to act like a normal pancreas. The concept is still a good concept but the devil is in the implementation. That’s why clinical trials like the one CIRM is funding are important to figure these details out and advance the science.

Q: What is your opinion about the importance of stem cell research and advancing stem cell therapies into clinical trials?

JW: Understanding how cells determine their fate is tremendously important. I think that there’s going to be plenty of payoffs for stem cell research in the near term and more so in the intermediate and long term. Stem cell research has my full support, and it’s fun to speculate on how it might address other unmet medical needs. The more we learn about stem cell biology the better.

Q: What advice do you have for other patients dealing with diabetes or who are recently diagnosed?

JW: Don’t give up, don’t be ashamed or discouraged, and gather as much data as you can. Make sure you know where the fast-acting carbohydrates are!

Q: What are you passionate about?

JW: I love a good story, and I’m a fan of biological puzzles. It’s great having a front-row seat in the world of diabetes research, and I want to stick around long enough to celebrate a cure.


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Throwback Thursday: Progress to a Cure for Type 1 Diabetes

Welcome back to our “Throwback Thursday” series on the Stem Cellar. Over the years, we’ve accumulated an arsenal of valuable stem cell stories on our blog. Some of these stories represent crucial advances towards stem cell-based cures for serious diseases and deserve a second look.

novemberawarenessmonthThis week in honor of Diabetes Awareness Month, we are featuring type 1 diabetes (T1D), a chronic disease that destroys the insulin-producing beta cells in your pancreas. Without these important cells, patients cannot maintain the proper levels of glucose, a fancy name for sugar, in their blood and are at risk for many complications including heart disease, blindness, and even death.

Cell replacement therapy is evolving into an attractive option for patients with T1D. Replacing lost beta cells in the pancreas is a more permanent and less burdensome solution than the daily insulin shots (or insulin pumps) that many T1D patients currently take.

So let’s take a look at the past year’s advances in stem cell research for diabetes.

Making Insulin-Producing Cells from Stem Cells and Skin

This year, there were a lot of exciting studies that improved upon previous methods for generating pancreatic beta cells in a dish. Here’s a brief recap of a few of the studies we covered on our blog:

  • Make pancreatic cells from stem cells. Scientists from the Washington University School of Medicine in St. Louis and the Harvard Stem Cell Institute developed a method that makes beta cells from T1D patient-derived induced pluripotent stem cells (iPSCs) that behave very similarly to true beta cells both in a dish and when transplanted into diabetic mice. Their discovery has the potential to offer personalized stem cell treatments for patients with T1D in the near future and the authors of the study predicted that their technology could be ready to test in humans in the next three to five years.
  • Making functional pancreatic cells from skin. Scientists from the Gladstone Institutes used a technique called direct reprogramming to turn human skin cells directly into pancreatic beta cells without having to go all the way back to a pluripotent stem cell state. The pancreatic cells looked and acted like the real thing in a dish (they were able to secrete insulin when exposed to glucose), and they functioned normally when transplanted into diabetic mice. This study is exciting because it offers a new and more efficient method to make functioning human beta cells in mass quantities.

    Functioning human pancreatic cells after they’ve been transplanted into a mouse. (Image: Saiyong Zhu, Gladstone)

    Functioning human pancreatic cells after they’ve been transplanted into a mouse. (Image: Saiyong Zhu, Gladstone)

  • Challenges of stem cell-derived diabetes treatments. At this year’s Ogawa-Yamanaka Stem Cell Award ceremony Douglas Melton, a well-renowned diabetes researcher from Harvard, spoke about the main challenges for developing stem cell-derived diabetes treatments. The first is the need for better control over the methods that make beta cells from stem cells. The second was finding ways to make large quantities of beta cells for human transplantation. The last was finding ways to prevent a patient’s immune system from rejecting transplanted beta cells. Melton and other scientists are already working on improving techniques to make more beta cells from stem cells. As for preventing transplanted beta cells from being attacked by the patient’s immune system, Melton described two possibilities: using an encapsulation device or biological protection to mask the transplanted cells from an attack.

Progress to a Cure: Clinical Trials for Type 1 Diabetes

Speaking of encapsulation devices, CIRM is funding a Phase I clinical trial sponsored by a San Diego-based company called ViaCyte that’s hoping to develop a stem cell-based cure for patients with T1D. The treatment involves placing a small encapsulated device containing stem cell-derived pancreatic precursor cells under the skin of T1D patients. Once implanted, these precursor cells should develop into pancreatic beta cells that can secrete insulin into the patient’s blood stream. The goal of this trial is first to make sure the treatment is safe for patients and second to see if it’s effective in improving a patient’s ability to regulate their blood sugar levels.

To learn more about this exciting clinical trial, watch this fun video made by Youreka Science.

ViaCyte is still waiting on results for their Phase 1 clinical trial, but in the meantime, they are developing a modified version of their original device for T1D called PEC-Direct. This device also contains pancreatic precursor cells but it’s been designed in a way that allows the patient’s blood vessels to make direct connections to the cells inside the device. This vascularization process hopefully will improve the survival and function of the insulin producing beta cells inside the device. This study, which is in the last stage of research before clinical trials, is also being funded by CIRM, and we are excited to hear news about its progress next year.

ViaCyte's PEC-Direct device allows a patient's blood vessels to integrate and make contact with the transplanted beta cells.

ViaCyte’s PEC-Direct device allows a patient’s blood vessels to integrate and make contact with the transplanted beta cells.


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A patient perspective on how stem cells could give a second vision to the blind

October is Blindness Awareness month. In honor of the patients who suffer from diseases of blindness and of the scientists and doctors who work tirelessly to develop treatments and cures for these diseases, we are featuring an interview with Kristin Macdonald, a woman who is challenged by Retinitis Pigmentosa (RP).

RP is a genetically inherited disease that affects the photoreceptors at the back of the eye in an area called the retina. It’s a hard disease to diagnose because the first signs are subtle. Patients slowly lose their peripheral vision and ability to see well at night. As the disease progresses, the window of sight narrows and patients experience “tunnel vision”. Eventually, they become totally blind. Currently, there is no treatment for RP, but stem cell research might offer a glimmer of hope.

Kristin MacDonald

Kristin MacDonald

Kristin Macdonald was the first patient treated in a CIRM-funded stem cell trial for RP run by Dr. Henry Klassen at UC Irvine. She is a patient advocate and inspirational speaker for the blind and visually impaired, and is also a patient ambassador for Americans for Cures. Kristin is an amazing woman who hasn’t let RP prevent her from living her life. It was my pleasure to interview her to learn more about her life’s vision, her experience in CIRM’s RP trial, and her thoughts on patient advocacy and the importance of stem cell research.


Q: Tell us about your experience with being diagnosed with RP?

I was officially diagnosed with RP at 31. RP is a very difficult thing to diagnose, and I had to go through a series of doctors before we figured it out. The signs were there in my mid-to-late twenties, but unfortunately I didn’t really know what they were.

Being diagnosed with RP was really surprising to me. I grew up riding horses and doing everything. I had 20/20 vision and didn’t need any reading glasses. I started getting these night vision symptoms in my mid-to-late 20s in New York when I was in Manhattan. It was then that I started tripping, falling and getting clumsy. But I didn’t know what was happening and I was having such a great time with my life that I just denied it. I didn’t want to acknowledge that anything was wrong.

So I moved out to Los Angeles to pursue an acting and television career, and I just kept ignoring that thing in the brain that says “something’s wrong”. By the time I broke my arm for the second time, I had to go to see a doctor. And that’s when they diagnosed me.

Q: How did you boost yourself back up after being diagnosed with RP?

RP doesn’t come with an instruction booklet. It’s a very gradual adjustment emotionally, physically and spiritually. The first thing I did was to get out of denial, which was a really scary place to be because you can break your leg that way. You have to acknowledge what’s happening in life otherwise you’ll never get anywhere or past anything. That was my first stage of getting over denial. As I slowly started to accept things, I learned to live in the moment, which in a way is a big thing in life because we should all be living for today.

I think the fear of someone telling you that you’re going to go into the dark when you’ve always lived your life in the light can be overwhelming at times. I used to go to the mall and sometimes a door to a store would be gone or an elevator that I used to see is gone. What I did to deal with these fears and changes was to become as proactive as possible. I enlisted all of the best people around me in the business. I started doing charitable work for the Center for the Partially Sighted and for the Foundation for Fighting Blindness. I sat on the board of AIRSLA.org, an internet radio service for the blind and visually impaired, where I still do my radio show. Through that, I met other people who were going through the same type of thing and would come into my home to teach me independent living skills.

I remember the first day when an independent living counselor from the Center for the Partially Sighted came to my house and said we have to check in and see what your adjustment to blindness is like. Those words cut through me. “Adjustment to blindness”. It felt like I was going to prison, that’s how it felt like to me back then. But I am so glad I reached out to the Center for the Partially Sighted because they gave me invaluable instructions on how to function as a blind person. They helped me realize I could really live a good life and be whole, and that blindness would never define me.

I also worked a lot on my spiritual side. I read a lot of positive thinking books and found comfort in my faith in god and the support from my family, friends and my boyfriend. I can’t even enumerate how good they’ve been to me.

Q: How has being blind impacted your ability to do the things you love?

I’m a very social person, so giving up my car and suddenly being confined at night was crushing to me. And we didn’t have Uber back then! During that time, I had to learn how to lead a full life socially. I still love to do salsa dancing but it’s tricky. If I stand on the sidelines, some of the dancers will pass you by because they don’t know you’re blind. I also learned how to horseback ride and swim in the ocean – just a different way. I go in the water on a surf leash. Or I ride around the ring with my best friend guiding me.

Kristin loves to ride horses.

Kristin doesn’t let being mostly blind stop her from riding horses.

Q: What treatments have you had for RP?

I investigated just about everything that was out there. [Laughs] After I was diagnosed, I became very proactive to find treatments. But after a while, I became discouraged because these treatments either didn’t work or still needed time for the FDA to give approval.

I did participate in a study nine years ago and had genetically modified cells put into my eye. I had two surgeries: one to put the cells in and one to take them out because the treatment hadn’t done anything. I didn’t get any improvement, and that was crushing to me because I had hoped and waited so long.

I just kept praying, waiting, reading and hoping. And then boom, all the sudden I got a phone call from UC Irvine saying they wanted me to participate in their stem cell trial for RP. They said I’d be the third person in the world to have it done and the first in their clinical trial. They told me I was to be the first North American patient to have progenitor cells put in my eye, which is pretty amazing.

Q: Was it easy to decide to participate in the UC Irvine CIRM-funded trial?

Yes. But don’t get me wrong, I’m human. I was a little scared. It’s a new thing and you have to sign papers saying that you understand that we don’t exactly know what the results will be. Essentially, you are agreeing to be a pathfinder.

Luckily, I have not had any adverse effects since the trial. But I’ve always had a great deal of faith in stem cells. For years, I’ve been hearing about it and I’ve always put my hopes in stem cells thinking that that’s going to be the answer for blindness.

Q: Have you seen any improvements in your sight since participating in this trial?

I was treated a year ago in June. The stem cell transplant was in my left eye, my worse eye that has never gotten better. It’s been about 15 months now, and I started to see improvement after about two months following the treatment. When I would go into my bathroom, I noticed that it was a lot brighter. I didn’t know if I was imagining things, but I called a friend and said, “I don’t know if I’m imagining things but I’m getting more light perception in this eye.”

Sure enough, over a period of about eight months, I had gradual improvement in light perception. Then I leveled off, but now there is no question that I’m photo sensitive. When I go out, I use my sunglasses, and I see a whole lot more light.

Because I was one of the first patients in the trial, they had to give me a small dose of cells to test for safety. So it was amazing that a smaller dose of cells was still able to help me gain back some sight! One of the improvements that I’ve had is that I can actually see the image of my finger waving back and forth on my left side, which I couldn’t before when I put mascara on. I say this because I have put lip pencil all over my mouth by accident. That must have been a real sight! For a woman, putting on makeup is really important.

Q: What was your experience like participating in the UC Irvine trial?

Dr. Klassen who runs the UC Irvine stem cell trial for RP is an amazing person. He was in the room with me during the transplant procedure. I have such a high regard and respect for Dr. Klassen because he’s been working on the cure for RP as long as I’ve had it. He’s someone who’s dedicated his life to trying to find an answer to a disease that I’ve been dealing with on a day-to-day basis.

Dr. Klassen had the opportunity to become a retinal surgeon and make much more money in a different area. But because it was too crushing to talk to patients and give them such a sad diagnosis, he decided he was going to do something about it. When I heard that, I just never forgot it. He’s a wonderful man and he’s really dedicated to this cause.

Q: How have you been an advocate for RP and blindness?

I’ve been an advocate for the visually impaired in many different aspects. I have raised money for different research foundations and donated my time as a host and an MC to various charities through radio shows. I’ve had a voice in the visually impaired community in one way or another on and off for 15 years.

I also started getting involved in Americans for Cures only a few months ago. I am helping them raise awareness about Proposition 71, which created CIRM, and the importance of funding stem cell research in the future.

I may in this lifetime get actual vision again, a real second vision. But in the meantime, I’ve been working on my higher self, which is good because a friend of mine who is totally blind reminded me today, “Kristin, just remember, don’t live for tomorrow just getting that eye sight back”. My friend was born blind. I told him he is absolutely right. I know I can lead a joyful life either way. But trust me, having a cure for RP would be the icing on the cake for me.

Q: Why is it important to be a patient advocate?

I think it’s so important from a number of different aspects, and I really felt this at the International Society for Stem Cell Research (ISSCR) conference in San Francisco this summer when certain people came to talk to me afterwards, especially researchers and scientists. They don’t get to see the perspective of the patient because they are on the other side of the fence.

I think it’s very important to be a patient advocate because when you have a personal story, it resonates with people much more than just reading about something or hearing about something on a ballot.  It’s really vital for the future. Everybody has somebody or knows somebody who had macular degeneration or became visually impaired. If they don’t, they need to be educated about it.

Q: Tell us about your Radio Show.

My radio show “Second Vision” is about personal development and reinventing yourself and your life’s vision when the first one fails. It was the first internet radio show to support the blind and visually impaired, so that’s why I’m passionate about it. I’ve had scores of authors on there over the years who’ve written amazing books about how to better yourself and personal stories from people who have overcome adversity from all different types of challenges in terms of emotional health, physical health or problems in their lives. You can find anything on the Second Vision website from interviews on Reiki and meditation to Erik Weihenmayer, the blind man who climbed the seven summits (the highest mountains of each of the seven continents).

Q: Why is stem cell research important?

I do think that stem cells will help people with blindness. I don’t know whether it will be a 100% treatment. Scientists may have to do something else along the way to perfect stem cell treatments whether it’s gene therapy or changing the number of cells or types of cells they inject into the eye. I really do have a huge amount of faith in stem cells. If they can regenerate other parts of the body, I think the eye will be no different.

To read more about Kristin Macdonald and her quest for a Second Vision, please visit her website.


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A Patient Advocate’s Take on Sickle Cell Disease: The Pain and the Promise

September is National Sickle Cell Awareness Month. First officially recognized by the federal government in 1983, National Sickle Cell Awareness Month calls attention to sickle cell disease (SCD), a genetic disease that researchers estimate affects between 90,000 and 100,000 Americans. CIRM is funding a clinical trial focused on curing the disease with a stem cell-based gene therapy. 

People with this debilitating condition face a number of barriers in getting the help they need to keep their pain under control. In addition to the difficulty of accessing medication, they often have to overcome suspicion and discrimination.  Patient Advocate Nancy Rene, of Axis Advocacy  wrote the following blog about the problems families with SCD face.

Sickle Cell Disease Patient Advocates Adrienne Shapiro and Nancy Rene.

Sickle Cell Disease Patient Advocates Adrienne Shapiro and Nancy Rene.

Sickle Cell Disease: The Pain and the Promise

By Nancy M. Rene, co-founder, Axis Advocacy

The Disease

Sickle Cell Disease is a group of inherited red blood cell disorders. It is the most common genetic disease in the US. Close to 100,000 Americans have sickle cell disease.  Although it affects persons of African descent, it can also be found in Latino families and families from the Middle-East and India. World-wide there are at least 20 million people with the disease.

Normal red blood cells are round like doughnuts, and they move through small blood vessels in the body to deliver oxygen. Red blood cells in the person with sickle cell disease become hard, sticky and shaped like sickles. When these hard and pointed red cells go through the small blood vessels, they clog the flow and break apart. This causes pain, inflammation and organ damage.

The Pain and the Promise

In the last 30 years the United States has made great progress in treating sickle cell disease.  All states now have newborn screening and most children are living to adulthood. However, many children with SCD don’t receive important services to prevent serious complications from the disease.

Unfortunately, according the the American Society of Hematology, the mortality rate for adults appears to have increased during the same 30 years! Patients with SCD experience long delays in the ER, and are often accused of being drug seekers. Once admitted to the hospital they are confronted by medical staff with little understanding or empathy. Research from Dr. Michael DeBaun found that adults with this disease lack access to a primary care doctor who is knowledgeable about sickle cell.

The biggest Pain for those with sickle cell disease does not come from the disease itself but from treatment by the medical community.  When, for most people, going to the hospital represents a place to get help and relief from the burdens of a challenging disease, those with sickle cell see going to the hospital as going into battle. They “gear up” with copies of medical records and NIH guidelines, they make sure they have a diary to record inappropriate remarks from medical staff, they ask a friend to come along as an advocate to help them withstand the implied racism and institutional bias with which they are confronted. Even when new hospitals or clinics are built, they often do not live up to expectations, offering no emergency support or 24-hour access.

The promise of course comes from the diligent work of researchers and clinicians who run model programs.  Bone marrow transplants, while limited in use, have actually cured a number of young people, saving them from pain and organ damage that await their adult years. Pharmaceutical companies are completing clinical trials on several drugs that can reduce the symptoms of sickle cell at the molecular level. These drugs could greatly reduce the effects of the sickle cell crisis which often results in a lengthy hospital stay.

Stem cell research, while moving slowly, can be the holy grail of medical practice, curing many of the 100,000 Americans with sickle cell.  A cure would lead to avoiding the dreaded ER, being free of pain and organ damage, living a healthy life, and having children without worrying that they too would be born with this disease.

What is missing is linking research to clinical practice.  It is clear that the CDC, FDA and NIH have finally understood this missing piece.  The NIH published an extensive report, Guidelines for the The Treatment of Sickle Cell Disease, in 2014. NIH convened the 10th Annual Focus on Sickle Cell that brought researchers, clinicians, and other leaders together to make presentations on their work in sickle cell. The Sickle Cell Research Foundation convened an outstanding medical conference in Florida that again brought leaders together to gain knowledge from one another. ASH, the American Society of Hematology, is planning to launch a Sickle Cell Initiative this month.

We in the sickle cell community, patients, care-givers, and advocates, feel that we have finally got some big guns in this fight. Once doctors in all communities understand this disease, once they are aware of their own implicit bias and that of their institutions, there should be improvement in the treatment of people with this painful, debilitating illness.


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