(Music) Hi everyone welcome to this special health edition of the Balancing Act I'm Olga Villaverde, and I'm Amber Milt. Today we're focusing on two diseases. That's right. First lupus. It's been in the news recently a superstar Selena Gomez had a kidney transplant, she's battling lupus nephritis.
Today we're gonna learn more about this and what's on the horizon to help those who are battling this disease. And the second one will go behind the mystery with the ultra rare disease known as plasminogen deficiency and meet those on the forefront. Important information coming up the balancing act starts right now. It's a disease that's been around for centuries and while research and development has been ongoing there really hasn't been much accomplished in terms of treatment, let alone a cure. We're talking about lupus its mark on the body is often invisible yet millions around the world suffer from it.
Joining me today is Dr. William Pendergraft from UNC Kidney Center. We're also going to hear from two very special women who are living with lupus. Their special stories just ahead. Good morning Doctor thanks for being here. Thank you. Doctor you know I was getting ready for this segment learning more about lupus and one thing I noted was a lot of people would tell me oh yeah Olga lupus yeah I've heard of it and I would say well what is it and they say I don't know exactly. Right.
There are lots of people who feel that way and lupus really is an autoimmune condition where the immune system instead of attacking bacteria and viruses actually attacks our own bodies and lots of different parts of the body can be affected and it's more prevalent than people think. In fact I have a statistic here that I want to share with my viewers the Lupus Foundation of America estimates that 1.5 million Americans and at least 5 million people worldwide have a form of lupus. I know there's different forms tell me what they are.
So lupus like I was saying is an autoimmune condition and it really can have multiple forms where multiple parts of the body are affected so often people can have muscle involvement and have muscle pain joint involvement and joint pain. Thast the symptoms they feel, what else? Exactly skin involvement which can cause skin rash and then also internal organs can be affected and one of the big ones that is often affected it's the kidney. That's called lupus nephritis and what happens the kidney just stops working? Often it can usually what happens is patients develop antibodies which are proteins and those proteins plug up into the filters of the kidney that filter out the toxins from the blood. We just mentioned Lupus nephritis just recently Selena Gomez posted on Instagram. Here it is a picture of herself in the hospital with her best friend who donated one of her kidneys to Selena Gomez because she has lupus nephritis. And quite young to develop that does it happen too all patients doctor? Well it's a good question, we think at least 60% of patients with lupus can develop lupus nephritis during their lifetime but when we look at autopsy studies that were done many decades ago if you look at patients who died from lupus and look at their kidneys you can find that they actually have lupus nephritis that just hasn't been clinically detected. And since we're still talking about lupus nephritis i want to introduce a very special woman from Orlando.
We met with her and her husband she shared her story of being diagnosed with lupus then how now she has lupus nephritis. Let's hear her story. All my joints were just inflamed. I could barely move it's just out of it like I was just another person the symptoms started when Gabrielle was 26 years old. For a person who consider herself pretty active it slowed me down considerably. Gabrielle spent four days in the hospital.
The pain and anguish continued and eight months later she was diagnosed with lupus. I was scared because I didn't know what that meant for my future. It was a big question mark Gabrielle and her husband went to a Rheumatologist she started taking medication and then a few years later her kidney started to fail to see her. You know in pain not being able to move around and do some of the things that she's used to doing was was really it was really strange when I do my dialysis. I just bring it out while she waits for a kidney donor Gabrielle does dialysis at home every night for 10 hours. Right now dialysis is literally my lifeline it's a big part of my life that I didn't count on but she is counting on a cure hopeful that despite life's challenges the future will be brighter. My wife is courageous, optimistic, she is determined to not let lupus get the best of her. Such an amazing woman.
Just looking forward do you see that with your patients? I do I have so many patients just like her. Alright, stay right there doctor cause when we come back we're going to talk more about lupus treatments, clinical trials and we're also going to hear from another woman who is living with lupus and making a difference today. Her story coming up soon. Welcome back we're joined by Dr.
William Pendergraft from UNC Kidney Center. Doctor, before we talk about treatments and clinical trials I want to share one more story of a woman who is living with lupus today and making a difference. Let's take a look. And every day she teaches her dancers to reach for the stars, she inspires these young girls to never give up no matter what. So I think when I see them or I try to understand what they're going through and then have them understand what life could be like. Lessons Kristin Liu knows firsthand. At 29 she was diagnosed with lupus and at that moment life changed forever. This cannot be what God had intended like this cannot be the life that I am supposed to be living.
So I pretty much told myself that for a good three months. But rather than stumble or fall Kristin tackled the disease head-on. I do everything I can to say wow I just did not want to be here.
And I did not want to be swallowing these pills every morning and in return I have to say how can I make my life better in any way possible. She started raising money for the annual lupus walk in Miami, Florida. She along with her entire dance unlimited team started creating awareness one step at a time. I walked for Miss Kristin because I love her I want to support Miss Kristin and I'm gonna raise awareness and money. What would you say to your family years later and they continue to walk for you? I would tell them they saved my life not the medication, not anything else. But just your sheer spirit alone.
Doctor, such a powerful message of hope. So let's talk about where we are are we close? I think we're on the road to a cure. Okay. But it's a long road and we're not there yet. So let's talk about where we are for patients today what treatments are out there? It's important to remember that there are lots of different treatments but one of the treatments that I think exposes most of the patients to bad effects is corticosteroids and one of the oral forms of corticosteroids is a drug called prednisone which many people have probably heard about. It's important to remember that many of our patients are women of childbearing age and women of that age also don't enjoy prednisone because it has many terrible effects even though it may actually treat the disease well. But they have no choice but to take it correct? That's right and it can cause lots of different problems.
It can make people gain weight because acne, hair growth in places people wouldn't enjoy. Are there currently any clinical trials that show promise? Currently there is one trial run by Aurinia Pharmaceuticals in which we're participating at UNC which uses prednisone a common drug called cell sept and then another drug called Vaclav sporran so these trials are truly critical. Yes they are and what we need is to make sure that we make patients aware of the trials that are available and also make the providers of the patients aware as well.
I know you can't call it but again it seems to me that like you said going in the right direction and hopefully one day a cure. I think so, hopefully in our lifetime. Thank you so much for all the information.
I do appreciate your time. Thank you. And if you'd like more information on Aurinia on these clinical trials you can go to Aurinia ln study dot com or you can go to our Aurinia Pharma. Com or check out our website the balancing act dot com Up next, meet a brave young lady who's been battling in an ultra rare disease almost since birth and finally she's seen the light at the end of the tunnel. Stay with us. As we continue the special health edition of the Balacing Act were going behind the mystery. Today the ultra rare disease known as congenital plasminogen deficiency. Now while few are affected it has a profound impact on sufferers their families and society put on the medical map 170 years ago it is only now that patients are seeing hope new treatments are on the horizon.
Joining me to talk about this systemic and potentially life-threatening illness are Dr. Shira Robbins from Shiley Eye insitute University of California San Diego and a young warrior Andrea who's affected by this disease almost since birth and her mother Jessica a formidable plasminogen deficiency advocate. Good morning to all of you Doctor let me start with you and I'm gonna be completely honest plasminogen deficiency I had never heard of it. Well you are not alone. Okay good, god bless.
Plasminogen deficiency is a rare potentially lethal and blinding disease and it happens because patients lack the enzyme called plasminogen. Mhm, and that enzyme is supposed to take away certain proteins. So what happens is we get these protein build-up throughout our body which lays down in layers which form these thick membranes all throughout our body and in my work at the Shiley eye Institute I like to explain things in terms of everyday life. So if you were to take your front lawn and imagine that you never we did or mowed again, which I know you would never do all of your healthy plants would end up getting choked and eventually died. And thats what happens in this disease process. That's a great anaology thank you for that Doctor, Jessica, Andrea, tell me about your journey with plasminogen deficiency. When did you notice that your daughter had it? Jessica? Well Ive always kind of noticed even she was born what happened she's had many bouts of what they've always thought was pinkeye. Exactly.
So Andrea has been treated for pinkeye the normal regimen of what they would give for pinkeye many times it got to a point where it wasn't going away and we were referred finally to the Children's Hospital in Chicago. After many visits back and forth between her pediatrician and ophthalmology misdiagnosed she was finally diagnosed when she was about almost four. Four years later? Even then we've done so many experimental treatments because there wasn't anything available at that time. What a nightmare Andrea, I know you were quite young but do you have any recollection do you remember how did it affect you? It affected me not as much as it affected my family. Mhm.
But thats only because I was young and I didn't know much of what was going on I just knew that there was something wrong. Doctor is this typical of those affected with plasminogen deficiency ? It is, it's very typical having to go through many many doctors and often times many years and sometimes even having many surgeries before the proper diagnosis is made and it only takes a simple blood test. A simple blood test to get a diagnosis. Let's create some awareness here today and what are the signs and symptoms to look out for here? Well the signs and symptoms are created by these membranes that I mentioned earlier and they can happen in multiple organ systems throughout the body usually where we have mucous membranes which are the wet portions of the inner size of our bodies so when it happens in the eyes they these membranes occur on the inner size of our eyelids and it can lead to scarring and even blindness. It leads to a lot of tearing some pain and it really changes someone's appearance It can take away hearing when it affects the ears, and the mouth, the patients lose teeth and in the airwaves oftentimes those patients have respiratory distress and they can even die from that. It can change the fluid channels inside of the brain leading to swelling of the brain, kidney failure,infertility skin rashes and very poor wound healing so it really affects a lot of parts of the body.
So if it affects a lot of parts of the bodies we're talking about then probably you've going to a pulmonologist,a Rheumatologist,an ophthalmologist,a specialist after specialist is that what you did. Yes yes. She sees many specialists she goes to ENT she has her ophthalmologist her pediatrician her hematologist and ENT for ears nose and throat and doctor that is so trying it does it takes a team of doctors to not only diagnosis but also to treat it and it can occur usually an infancy the beginning but it can occur for the first time in terms of symptoms at any time in the lifetime.
So what treatment options are available today? Well originally people saw these membranes and they wanted to peel them back. The doctors as well as the patients but that really doesn't help in fact it can make it worse because when those membranes are peeled oftentimes they grow back very quickly and even thicker than before so there's been a host of treatments which have been tried and unfortunately none of them work great. It makes the most sense to try and replace what is deficient so to replace the plasminogen in the first place right now there is no current FSA approved plasminogen replacement therapy but there is one which is currently being reviewed by the FDA and so what that means is that all the scientific analysis is incomplete but it's in the works and andrey has actually been a part of that an important part of that participating in that clinical trial. And now that you have participated in this clinical trial how are you feeling ? I'm feeling way better health-wise I mean physically, and emotionally, mentally, just everything that is great. Oh and you look beautiful and you sound great and it makes me happy to know that.
I know you're probably the happiest mom today to see her so much better but the road has not been easy. No it hasn't, Andrea had FM systems in class for her moderate hearing loss, shes had preferential seating in class because of her vision loss so she's felt kind of singled out her whole life, she was bullied a lot in elementary school because her eyes were crossed because her brain had shut down her right eye so we've dealt with a lot of those things. I know you have a lot of hope and you are an advocate for Andrea and anyone with plasminogen deficiency. What resources re out there for families today if you can offer any ? The biggest resource that I have is a Facebook page that I created in desperation to find other people for you because when I first had Andrea diagnosed I had nobody and I was told that there was nobody so I'd created this Facebook page and people have found me it's called ligneous conjunctivitis and plasminogen deficiency support group and we all talk to each other moms, caregivers, patients create awareness, we cry on each other's shoulders share our successes. Doctor, what advice would you give to someone out there who may be going through this right now or may have the symptoms and signs. Well I think that it requires a strong and supportive family unit but I'm very hopeful for the future of these patients we have great educational things happening like this show today we have another very promising treatment right around the corner so I'm very hopeful that in the future patients identified with this disease process will be able to do the simple things that we all take for granted like taking a deep breath seeing your best friend listening to your favorite music and maybe even becoming a parent.
And andrea, I want to end with you any final words? I just want other patients to understand that they need to have self-confidence and they need to not care what other people think about them because you're you and that's just everything. And you are amazing. Thank you. Thank you so much for coming today. Andrea, good luck to you Jessica, thank you and for being such a great mom and for talking to others about this. Doctor, thank you for the insight.
Thank you so much its critical to identify the symptoms early and get tested for plasminogen deficiency. A simple blood test can make a a significant difference in the disease management. For more information medical education for that matter you can go to plasminogen dot com for patient information go to PTs dot plasminogen dot com or can always just go to our website for the balancing act You know and a special thanks to Gabriel, Kristen, And Andrea for sharing their personal stories. Great ladies with so much hope so sweet and it's good to know that there's hope for people who are suffering from these diseases and of course if you want to know more about this you can head to our Facebook page and our website and of course you can always follow us on Twitter you can also check out our webpage which is thebalancingact.com thanks for watching everyone we'll see you next time.
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