Advocating for Huntington’s Disease: Daniel Medina’s Journey

Daniel Medina

In honor of Huntington’s Disease (HD) Awareness Month, we’re featuring a guest blog by HD patient advocate Daniel Medina. Daniel became actively involved in the HD community when he learned that his younger brother was at risk for inheriting this devastating neurodegenerative disease. Since then he has been a champion for HD awareness by organizing HD patient support groups and walks in southern California and serving on the Board of HD Care, UC Irvine’s non-profit HD support group. 


Guest Blog by Daniel Medina

A visit to a care home back in April of 2012 changed my life forever. It all started when my mother took my 14-year-old half-brother to meet his grandfather for the very first time. My brother’s aunt led the way to what seemed to be an emotional, long overdue family encounter.  As they walked into his room they were impacted by what they saw.

They saw an elderly, bedridden gentleman that suffered from uncontrollable body movements. He was unable to communicate and was totally dependent on others. As the tears flowed, so did my mom’s sense of urgency to find out the name of his affliction. That’s when the words “Huntington’s disease” were uttered by my brother’s aunt. Her knowledge was limited to sharing that it was a genetic disease.

I immediately began my own research as the details of this encounter were relayed to me. My curiosity soon turned into despair and anguish as I learned that my brother was at risk of being a carrier of this horrible neurodegenerative disease.  I felt empowered as I began attending HD fundraising events. There I met so many courageous families that clung to the hope of a better tomorrow.  This hope came through the possibility of scientists working towards finding a treatment or a cure through stem cell research.

As of 2013 my role had evolved from an event attendee to a patient advocate. It became clear to me that there was an immediate need to fill voids that were unattended. In 2014, I started an HD support group in my area in order to tend to the needs of the HD community. The appreciation and gratitude I felt made every second I invested very much worthwhile.

In the last three years, we have seen the tremendous impact and growth HD organizations like Help4HD International, HD CARE and WeHaveAFace, have had on a local and global scale. It has been such an honor and a privilege to work alongside them. Our collaborative efforts have had a ripple effect of amazing results. The success of one is the success of all.

At the beginning of 2015, I was introduced to Americans for Cures. Working to promote and educate the public about the benefits of stem cell stem research was a perfect fit. Meeting advocates from other disease communities has educated me and taught me how our common goals towards finding cures unites us.

My HD Advocacy journey began with a simple visit to a care home. In a matter of a few years, it has transformed into a life mission to help those suffering the effects of this terrible disease.

2016 HD-CARE Conference. Patient Advocates Ron Shapiro, Adrienne Shapiro, David Saldana, Frances Saldana, Daniel Medina with Karen Ring from CIRM.

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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 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.

 

 

 

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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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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Out of the mouths, or in this case hearts, of babes comes a hopeful therapy for heart attack patients

Pediatric-Congenital-Heart-Disease-patient-300x200

Lessons learned from babies with heart failure could now help adults

Inspiration can sometimes come from the most unexpected of places. For English researcher Stephen Westaby it came from seeing babies who had heart attacks bounce back and recover. It led Westaby to a new line of research that could offer hope to people who have had a heart attack.

Westaby, a researcher at the John Radcliffe hospital in Oxford, England, found that implanting a novel kind of stem cell in the hearts of people undergoing surgery following a heart attack had a surprisingly significant impact on their recovery.

Westaby got his inspiration from studies showing babies who had a heart attack and experienced scarring on their heart, were able to bounce back and, by the time they reached adolescence, had no scarring. He wondered if it was because the babies’ own heart stem cells were able to repair the damage.

Scarring is a common side effect of a heart attack and affects the ability of the heart to be able to pump blood efficiently around the body. As a result of that diminished pumping ability people have less energy, and are at increased risk of further heart problems. For years it was believed this scarring was irreversible. This study, published in the Journal of Cardiovascular Translational Research, suggests it may not be.

Westaby and his team implanted what they describe as a “novel mesenchymal precursor (iMP)” type of stem cell in the hearts of patients who were undergoing heart bypass surgery following a heart attack. The cells were placed in parts of the heart that showed sizeable scarring and poor blood flow.

Two years later the patients showed a 30 percent improvement in heart function, a 40 percent reduction in scar size, and a 70 percent improvement in quality of life.

In an interview with the UK Guardian newspaper, Westaby admitted he was not expecting such a clear cut benefit:

“Quite frankly it was a big surprise to find the area of scar in the damaged heart got smaller,”

Of course it has to be noted that the trial was small, only involving 11 patients. Nonetheless the findings are important and impressive. Westaby and his team now hope to do a much larger study.

CIRM is funding a clinical trial with Capricor that is taking a similar approach, using stem cells to rejuvenate the hearts of patients who have had heart attacks.

Fred Lesikar, one of the patient’s in the first phase of that trial, experienced a similar benefit to those in the English trial and told us about it in our Stories of Hope.

Stories of Hope: Stroke

Six months after surviving a stroke, Sonia Olea wanted to die. Her right leg was weak, her right arm useless. She had trouble speaking and even small tasks were challenging. Just making a phone call was virtually impossible. One morning, she woke up with her arm pinned in an awkward, painful position. After finally repositioning it, she wanted to call her fiancé, but knew she couldn’t get the words out. That’s when it hit her.

Sonia has seen first hand how a stroke can rob you of even your most basic abilities.

Sonia has seen first hand how a stroke can rob you of even your most basic abilities.

“I thought, I’m only 32,” says Sonia. “How could this be happening to me?”

Nobody really had an answer. A stroke occurs when a blood clot blocks a vessel in the brain and cuts off blood flow. Brain cells begin to die within minutes when they are deprived of oxygen and nutrients. Stroke rates are on the rise for young adults for a variety of reasons but no one could pinpoint specifically what caused hers.

Slowly, Sonia fought back from her depression and realized she could do this. She would find a way to recover. Just one year later, she got a call from Stanford University; asking if she would be willing to participate in a cutting-edge, stem cell-based clinical trial.

Was she ever. The answer, says Sonia, was a no-brainer.

Rescuing Brain Cells
Led by CIRM grantee Gary Steinberg, M.D., Ph.D., chairman of the Department of Neurosurgery at Stanford School of Medicine, the early phase clinical trial tested the safety of transplanting bone marrow stem cells into the brain. It was a revolutionary approach.

“The old notion was that you couldn’t recover from a stroke after around three months,” says Steinberg. “At that point, the circuits were completely dead—and you couldn’t revive them.”

While this was partially true, it was thought that brain cells, or neurons, just outside the stroke damage might be saved. Steinberg and collaborators at the University of Pittsburgh recognized that stem cells taken from bone marrow wouldn’t transform into functioning neurons. However, the transplanted cells could release molecules that might rescue neurons that were impaired, but not yet dead.

Brain Surgery
Sonia had surgery to transplant bone marrow stem cells into her brain in late May 2013. The improvement was almost instantaneous. “When I woke up, my speech was strong, I could lift up my feet and keep them in the air, I even raised my right hand,” says Sonia. Though the trial was primarily designed to study the stem cell therapy’s safety, researchers were also interested in its effectiveness.

“Sonia was one of our two remarkable patients who got better the day after surgery and continued to improve throughout the year,” says Steinberg. 18 patients in total were treated in that study.

Although Sonia’s treatment results are still very preliminary, they bode well for a separate CIRM-funded stroke research project also led by Steinberg. In this study, cells grown from embryonic stem cells will be turned into early-stage neuron, or brain, cells and then transplanted into the area of stroke damage. The team has found that transplanting these neural cells into mice or rats after a stroke helps the animals regain strength in their limbs. The team is busy working out the best conditions for growing these neural cells in order to take them into clinical trials.

In the meantime, Sonia continues to improve. “My leg is about 95 percent better and my arm is around 60 percent there,” says Sonia. “My speech isn’t perfect, but I can talk and that’s something I never could have done before the surgery.”

The added function has made a huge difference in her quality of life. She can walk, run, drive a car, call a restaurant to make a dinner reservation—simple things she took for granted before having a stroke. But most importantly, she has confidence in the future.

“Everything is good,” says Sonia, “and it’s only going to get better.”

To learn about CIRM-funded stroke research, visit our Stroke Fact Sheet. Read more about Sonia’s Story of Hope on our website.

Stories of Hope: Sickle Cell Disease

This week on The Stem Cellar we feature some of our most inspiring patients and patient advocates as they share, in their own words, their Stories of Hope.

Adrienne Shapiro pledged she would give her daughter Marissa the best possible life she could have—wearing herself out if necessary. Her baby girl had sickle cell disease, an inherited disorder in which the body’s oxygen-carrying red blood cells become crescent shaped, sticky, rigid, and prone to clumping—blocking blood flow. Doctors warned Adrienne that Marissa might not live to see her first birthday. When Marissa achieved that milestone, they moved the grim prognosis back a year, and then another year, and then another.

Adrienne has seen first hand how difficult it is to live with this blood disease.

Adrienne has lived through several generations of the inherited blood disease.

Adrienne worked tirelessly to help Marissa. “I was constantly asking questions,” Shapiro says. And for a long time, it worked.

However, things began to unravel for Marissa as she reached adulthood. A standard treatment for sickle cell disease—and the excruciating pain caused by blocked blood vessels—is regular blood transfusions. A transfusion floods the body with healthy, round red blood cells, lowering the proportion of the deformed, ‘sickle-shaped’ cells. But when she was 20, a poorly matched blood transfusion triggered a cascade of immune problems. Later, surgery to remove her gall bladder set off a string of complications and her kidneys shut down temporarily. After that, her immune system couldn’t take any more insults. Now, at age 36, she’s hypersensitive.

“She can’t be transfused. She can’t even have tape next to her skin without her body reacting,” Adrienne said.

Pain control is the newest and continuing nightmare. Adrienne tells harrowing stories of long waits in hospital emergency rooms while her daughter suffers, followed by maddening arguments with staff reluctant to provide enough drugs to control the intense pain when her daughter is finally admitted.

“When she was a kid, everyone wanted to make her feel good,” Adrienne says. “But when we moved from the pediatric side to the adult side, they treated her as a drug seeker and me as an enabler. It’s such a slap in the face.”

For Adrienne, the story is all too familiar. She is the third generation in her family with a sickle cell child. Another daughter, Casey Gibson, does not have the disease but carries the sickle cell mutation, meaning she could pass it to a child if the father also has the trait. One in 500 African Americans has sickle cell disease, as do 1 in 36,000 Hispanic people.

There is only one sure way to stop this story from repeating for generations to come, Adrienne says, and that’s research. She believes stem cell science will be the answer.

“I’ve been waiting for this science to get to the point where it had a bona fide cure, something that worked. Now we’re actually nearing clinical trials. It’s so close.”

In fact a CIRM-funded project led by Don Kohn, M.D. at UCLA aims to start trials in 2014. Kohn and his team intend to remove bone marrow from the patient and fix the genetic defect in the blood-forming stem cells. Then those cells can be reintroduced into the patient to create a new, healthy blood system.

“Stem cells are our only hope,” Adrienne continues, “It’s my true belief that I’m going to be the last woman in my family to have a child with sickle cell disease. Marissa’s going to be the last child to suffer, and Casey is going to be the last one to fear. Stem cells are going to fix this for us and many other families.”

For more information about CIRM-funded sickle cell disease research, visit our Sickle Cell Disease Fact Sheet. You can read more about Adrienne’s Story of Hope on our website.

Stories of Hope: Spinal Cord Injury

This week on The Stem Cellar we feature some of our most inspiring patients and patient advocates as they share, in their own words, their Stories of Hope.

Katie Sharify had six days to decide: would she let her broken body become experimental territory for a revolutionary new approach—even if it was unlikely to do her any good? The question was barely fathomable. She had only just regained consciousness. A week earlier, she had been in a car crash that damaged her spine, leaving her with no sensation from the chest down. In the confusion and emotion of those first few days, the family thought that the treatment would fix Katie’s mangled spinal cord. But that was never the goal. The objective, in fact, was simply to test the safety of the treatment. The misunderstanding – a cure, and then no cure — plunged the 23-year-old from hope to despair. And yet she couldn’t let the idea of this experimental approach go.

Katie never gave up hope that stem cell-based therapies could help her or others like her living with spinal cord injury.

Katie never gave up hope that stem cell-based therapies could help her or others like her living with spinal cord injury.

Just days after learning that she would never walk again, that she would never know when her bladder was full, that she would not feel it if she broke her ankle, she was thinking about the next girl who might lie in this bed with a spinal injury. If Katie walked away from this experimental approach—what would happen to others that came after her?

Her medical team provided a crash course in stem cell therapy to help Katie think things through. In this case the team had taken stem cells obtained from a five-day old embryo and converted them into cells that support communication between the brain and body. Those cells would be transplanted into the injured spines. Earlier experiments in animal models suggested that, once in place, these cells might help regenerate a patient’s own nerve tissue. But before scientists could do the experiment, they needed to make sure the technique they were using was safe by using a small number of cells, too few to likely have any benefit. And that’s why they wanted Katie’s help in this CIRM-funded trial. They explained the risks. They explained that she was unlikely to derive any benefit. They explained that she was just a step along the way. Even so, Katie agreed. She became the fifth patient in what’s called a Phase I trial: part of the long, arduous process required to bring new therapies to patients. Shortly after she was treated the trial stopped enrolling patients for financial reasons.

That was nearly three years ago. Since then, she has been through an intensive physical therapy program to increase her strength. She went back to college. She tried skiing and surfing. She learned how to make life work in this new body. But as she rebuilt her life she wondered if taking part in the clinical trial had truly made a difference.

“I was frustrated at first. I felt hopeless. Why did I even do this? Why did I even bother?” But soon she began to see how small advances were moving the science forward. She learned the steep challenges that await new therapies. Then this year, she discovered that the research she participated in was deemed to be safe and is about to enter its next phase, thanks to a $14.3 million grant from CIRM to Asterias Biotherapeutics. “This has been my wish from day one,” Katie says.

“It gives me so much hope to know there is an organization that cares and wants to push these therapies forward, that wants to find a cure or a treatment,” she says. “I don’t know what I would do if I thought nobody cared, nobody wanted to take any risks, nobody wanted to put any funding into spinal cord injuries.

“I really have to have some ray of hope to hold onto, and for me, CIRM is that ray of hope.”

For more information about CIRM-funded spinal cord injury research, visit our Spinal Cord Injury Fact Sheet. You can read more about Katie’s Story of Hope on our website.