Final Podcast Transcript

Glendy - Hi Everyone. My name is Glendy Perez, and today I will be interviewing my mom on muscular dystrophy. The most well known of the muscular dystrophies is Duchenne muscular dystrophy (DMD), followed by Becker muscular dystrophy (BMD). Muscular dystrophy is a group of inherited diseases characterized by weakness and wasting away of muscle tissue, with or without the breakdown of nerve tissue. Did you know, there are 40 types of Neuromuscular Diseases including nine types of Muscular Dystrophy? with each type involving an eventual loss of strength, increasing disability, and possible deformity. Each type differs in the muscles affected, the age of onset, and its rate of progression. The article, “Types of Muscular Dystrophy and Neuromuscular Diseases” is a credible source because it dives into other diseases, their effects in each one. The 9 types are Becker, Congenital, Duchenne, Distal, Emery-Dreifuss, Facioscapulohumeral, Facioscapulohumeral, Limb-Girdle, Myotonic. Just a brief introduction on the topic and issue and now we will begin the interview.

My purpose is to inform others of muscular dystrophy and view the life of a person with it and how they handle it. It will show their struggles, what they have done to live with their disease and any support along the way that helps them.

Edith - What is your name? Edith Gonzalez.

Glendy -Tell me about your story on your disease? How did it start?

Edith - My story? Well, I don't have that much to say. All I have to say is that I'm born with muscular dystrophy. It's a disease that you were born with. The neurologist, and all the doctors, told me that they don't have a cure for it. They're working on it to find it, to find something so the muscular dystrophy that can be cured. You know, it takes a long time, and we don't know when they're going to find the cure. Since 2018, my muscular dystrophy has increased.

Glendy - It all started in December of 2016, she went to work and everything was going well. She got on her lunch break and she had bought a strawberry lemonade. She took it out of the refrigerator and started to drink it. Five minutes later, she felt dizzy and felt light headed. She passed out and her co-workers called 911. As they saw her on the floor and she wouldn’t wake up. The paramedics had to resuscitate her. During that process she said she felt that she was leaving her body and seeing white. She said she asked God to let her stay because she wasn’t ready to leave and she didn’t want to leave her daughter alone. She then came back alive. It turns out one of her co-workers had put 100 milligrams of marijuana in her drink. The doctor then told her she had palpitations which is high blood pressure. In 2017-2018, She would go in and out of the emergency.

Edith - I was having headaches, palpitations when I walk, or whenever I do stuff, I feel really tired. Um, the doctors didn't know what I had. They thought that I was having depression, and I was having panic attacks and all of that. Uh, but finally, one neurologist at General Hospital, his name was Dr Green, he found it out, um, just by looking at me. He's like, there is something wrong with your body. There’s nothing wrong with your head, but your body is. You totally have something. He did an MRI. He's another test in my arms is called a melody, something, they put needles in your arms.

Glendy - I searched up the test the neurologist did on her. It is called Electromyography (EMG) which is a diagnostic procedure to assess the health of muscles and the nerve cells that control them. EMG results can reveal nerve dysfunction, muscle dysfunction or problems with nerve-to-muscle signal transmission. The doctor can detect if there is something wrong in her nerves. He also tested for many kinds of neuromuscular diseases through using my mother’s saliva. To test for muscular dystrophy it can be a blood sample or a saliva sample. It comes in small kits with instructions for how to test. It gets sent to the laboratory and they detect what types of muscular dystrophy a person can have. The results have to be told by the neurologist. ]

Edith - And he found out that I have three kinds of muscular dystrophy. So I have a limb girdle,

Glendy - Limb-girdle muscular dystrophy is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs. ]

Edith - I have Duchenne,

Glendy - Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness due to the alterations of a protein called dystrophin that helps keep muscle cells intact. The difference between the two would be that one is genetic and based on the protein the person has and the other would be feeling sore at points.

Edith - and I have another one that I don't know the name of, but I have three. And it's progressing kind of fast.

Glendy - When she says it is processing it means that she can’t do the activities she used to do. She can’t walk more than a block or she feels like she will fall and have no strength in her legs. This led her to using a wheelchair.

Edith - Now before I was at the point that I could walk a little back and wash dishes. Right now I can't do anything anymore. So no more washing dishes, no more doing stuff. Um, you know, it's just been tough this year, because I have appendicitis surgery now.

Glendy - She has had multiple surgeries throughout the years. She had appendicitis surgery this year due to her appendix being inflamed and being at risk of bursting. She had an emergency surgery on August 30, 2022. She came home the next day. She struggled to get up from bed and would scream in pain after the anesthesia wore off.

Edith - They just find out that my muscles will get in my lung, they're getting smaller, and they just find out they have asthma. You know, it's due to muscular dystrophy, because my lungs are getting smaller and it's really hard for me to breathe,

Glendy - The weakening of the diaphragm in people with muscular dystrophy results in reduced oxygen intake and decreased lung function. It is harder to produce air when the lung muscles are lowered by weakness.

Edith - so I use 24 h oxygen therapy. I am a, I'm, you know, I am a number two. Um.

Glendy - She uses two liters a day,

Edith - yes, two liters a day, 24 h um. And then I have, you know, I have to, I need assistance with everything, mostly the symptoms. When I get out of the bed, when I stand up, when I walk, because I keep falling down from my bed and from everywhere. So it's just, like, um, really, really hard. It's really sad that they don't have to care for it.

Glendy - When people look at my mom they don’t think she needs support. They think that she looks fine and isn’t in need of anything. It is discriminating to her because she is struggling in her disease and she needs to be supported, uplifted in a positive way not negative. It is related back to ableism which is when a disabled person is discriminated against by not looking “normal”. My mom all she needs is extra support other than that she is always happy.

Edith - They say that the best thing is to have to, you know, do exercise, and why I can do a lot of things. Physical therapies want to go for you. And that's all, you know. It's really challenging because now I learn how to live around my disease, which is kinda sad, because they took my driver license away. I'm not able to go by myself outside. I need company. I need somebody to be with me, because sometimes I feel Dizzy and I cannot drive my chair. And it's kind of sad because you're not independent anymore. So, you know, I became a very independent woman. I was driving around, working for IHSS,

Glendy - The In-Home Supportive Services (IHSS) program provides in-home assistance to eligible aged, blind and disabled individuals as an alternative to out-of-home care and enables recipients to remain safely in their own homes. Over 550,000 IHSS providers currently serve over 650,000 recipients. An IHSS provider duties are housecleaning, meal preparation, laundry, grocery shopping, personal care services (such as bowel and bladder care, bathing, grooming and paramedical services), accompaniment to medical appointments, and protective supervision for the mentally impaired.

Edith - taking care of my beautiful daughter and driving her to school and now I don't do that anymore, so what I do is read and listen to music, meditations and all that. It helps that, you know, it's kinda hard. It's sad for all people who have had these diseases. Farm, it's a bit really hard. I hope one day, I pray to God, they find a cure for muscular dystrophy, and we all. patients who have moscow, just few, we all be cured. And that's, you know, um, I hope somebody finds a cure for it, like they did for covid 19, they find a vaccine. And I hope one day it will be like that for muscular dystrophy. You know, they find it out that you won with the season. They say, “We have a vaccine for muscular dystrophy, to prevent muscle weakness.” So I have a dream that it will happen and that's my story to tell everyone. And I hope you guys understand what I say, because my, you know, primary language, it's not English it’s Spanish. So I'm just, you know, I'm from Guatemala, and I am 39 years old, I was born on June 25 1983. Um, I am the happiest person. I have a beautiful daughter, who is very smart. She also is diagnosed with muscular dystrophy.

Glendy - In November 2019, I was diagnosed with muscular dystrophy. I only have one type which is limb-girdle. I received it from my mom at birth. Ever since then, I have felt my life change dramatically. I get tested yearly to see how much I have progressed and if I need physical therapy. The testing the neurologist does is an echocardiogram which is a test of the action of the heart using ultrasound waves to produce a visual display, used for the diagnosis or monitoring of heart disease. An electrocardiogram (ECG or EKG) records the electrical signal from the heart to check for different heart conditions and a breathing test. The neurologist told me that for me it will mainly attack my heart as in I could have heart problems when I am older. They are monitoring me to make sure I am healthy and well.

Edith - And we try to live happily. We pray every day, and to have God with us, and I know that we're all going to die, but we have to be happy and kind on this earth, so that way, we make life happy, because we all have to now. We just have to live with the situation, and learn how to be strong and have faith in God, because if you don't have faith in God, There is faith, hope and love. You just have to be strong and fight, fight your dreams. And one day, you will open your eyes and they will get a vaccine for muscular dystrophy. That's my dream. Thank you everybody. I hope you listen to my story.

Glendy - Um, I have been researching a lot about this. They say, I've seen some stories, but they say that there is like a drug that you can use for my muscular dystrophy. It's like, um for the heart. It helps the heart, like, slow down a little bit if you have formations UM. And then there are a few more others that the FDA passed by.That's the Federal Administration drug they're in charge of, like, making sure that it's safe for people to take. It was for Becker muscular dystrophy, it would give Cardiac support (improve heart function). In the article it said that there are two cardiac drugs “Understanding and https://www.mda.org/quest/article/dmd-clinical-research-network-studying-dystrophin -deficient-heart . Two cardiac drugs, losartan (Cozaar) and lisinopril (Prinivil, Zestril), for their effects on cardiac and skeletal muscle in DMD.” Two drugs to see if they work for those with cardiac problems. It could lead them into having less palpitations and their heart to not grow bigger. The people who decide to participate will have to do an electrocardiogram to check their heart and see if they need it. It would be done through yearly testing to see if the drug worked for the patient. And it's been on trial since 2012, and they passed this year. So maybe there might be a possibility that could be a solution. I have really looked to see if people have a good side effect to that. Um, it doesn't really say much on the website, but I believe that might work.

Edith - And how about the medication? Did your neurologist prescribe it for you?

Glendy - He said that it does work, but it makes you very, like, tired and you have diarrhea.

Edith - I mean, you never try it, but if you try,

Glendy - it's called Pyridostigmine. It is used to improve muscle strength in patients with a certain muscle disease like muscular dystrophy. It works by preventing the breakdown of a certain natural substance in your body which is needed for normal muscle function. It's 60 mg. And I'm supposed to take it twice a day,

Edith - so you never get it. So you need to call the pharmacy and get it.

Glendy - Okay, um, another thing. Let's see physical therapy, my neurologist suggested I like to do more exercise and get a personal trainer. But it's super hard because it's hard to manage it with school. I'm very lazy. so I try to, like, do at least something like walk around, walk up hills when I go to school, or, like, if I find parking far, then that gives me the opportunity to walk for and to my class and then back. But it's still not enough. I still need to work. But, yeah, that is our interview. And we hope that this is enough information, and the peer review goes well today.

Glendy - Thank you.