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Rare diseases

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Rare diseases

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Content RARE DISEASES by Gustavo Gutierrez A Professional Project Presented to the FACULTY OF THE USC GRADUATE SCHOOL UNIVERSITY OF SOUTHERN CALIFORNIA In Partial Fulfillment of the Requirements for the Degree MASTER OF ARTS (BROADCAST JOURNALISM) May 2012 Copyright 2012 Gustavo Gutierrez ii Table of Contents Abstract…………………………………………………………….…………………... iii Rare Diseases Script…………...………………………………………………………. 1 Bibliography……………………………………………………………………..…….. 20 iii Abstract Rare diseases or also commonly known as orphan diseases are devastating for the person dealing with them, but also for the entire family. They are emotionally difficult to deal with, but also a huge financial burden for families because they require a lot of treatments and medication. The two rare diseases that will be profiled have no cure. Experts, say that two of the main reasons why a cure is yet to be found for these two rare diseases are the fact that they are rare, which do not affect a larger population and not enough money is invested in them to do more research. In particular, Spinal Muscular Atrophy has research being done at a university level by Chien-Ping Ko, professor at USC, and he feels optimistic about soon finding a drug that will give cure to patients or at least minimize the pain that SMA patients bear. This documentary profiles Maria Garibay, a Spinal Muscular Atrophy Type 2 patient who was diagnosed with this rare disease at 2 years old. She was never able to walk, but feels she had some kind of independence when she was younger because she completed high school and was able to go outdoors more than now since she is confined to a bed for the majority of the time. Her mother is her primary caregiver and she stopped working to provide for her daughter’s needs daily. Javier Arreola is also profiled in this documentary and suffers another rare disease called Cystic Fibrosis. He was diagnosed at 1 year and 6 months with this rare disease and his level of hope for a cure to be found is very optimistic at 10 years old. Just like Maria, Javier also goes through daily treatments and takes medication to provide him a healthier lifestyle, but most importantly to prolong life. To provide context for Maria’s and Javier’s life experience, their stories are supplemented by expert interviews, including Professor & Head Section of Neurology Department of Biological Sciences at USC, Doctor of iv Pediatrics and Neurology at Children’s Hospital Los Angeles, and the CEO of Madison’s Foundation, a non-profit organization that provides support to moms and dads of a child dealing with a rare disease. Accompanied to the stories are also Maria’s and Javier’s family members. 1 Rare Diseases Script VIDEO AUDIO Natural Sound Full VO MARIA GARIBAY AND EMMA ESQUIVEL MS and CU of Maria Garibay on her bed and her 3 year old niece standing next to her during their greeting routine. 23:21:16-23:21:51 Maria: “You look so pretty today. I love your dress. Give me a kiss. I love you. Emma: Me too. Maria: How much? Two only. Only two. You only love me two? Emma: Yes. Maria: I love you 7, 8, 9. Emma: Me too. Maria: That’s a big number. I love you. Emma: Me too. Maria: I think you broke my bones. I think you did. Emma: No, I didn’t.” VO NARRATOR 25:35:07-25:44:00 MS of Maria Garibay and her niece standing next to her bed and tasting lollipop. CU of Maria Garibay and her niece 23:48:41-23:49:06 36-YEAR-OLD MARIA GARIBAY HAS A RARE DISEASE. EVEN THOUGH THERE’S LIMITED PHYSICAL ACTIVITY THAT MARIA CAN PERFORM THIS DOES NOT STOP HER FROM BEING AFFECTIONATE TOWARD HER LOVED ONES. MARIA’S NIECES AND NEPHEWS HAVE LEARNED TO ADAPT TO THEIR AUNT’S CONDITION. VO NARRATOR 02:01:15-3:31:33 WS of Maria Garibay’s Apartment complex 05:55:16-05:55:23 THERE ARE MORE THAN 6,000 RARE DISEASES IN THE U.S. MARCY SMITH IS THE FOUNDER AND CEO OF MADISON’S FOUNDATION, A NON- PROFIT ORGANIZATION, WHOSE ACRONYMS STAND FOR MOMS AND DADS IN SEARCH OF NEEDED SUPPORT. 2 VO MARCY SMITH 05:01:15-05:01:45 On Camera Marcy Smith CG: Marcy Smith CEO and Founder of Madison’s Foundation It’s a website-based foundation that was started when my daughter was mis- diagnosed with cancer. And when she was re-diagnosed with a rare disease I found out how little support there was out there for those parents. VO MARCY SMITH 05:04:45-05:05:17 CU of Marcy Smith reading 08:34:01-08:34:13 WS of Marcy Smith reading next to her dogs 08:35:01-08:35:09 In the United States alone there’s 25 million Americans with rare diseases and most of them are children. I have 550 rare pediatric diseases on my database. It’s constantly growing. Rare diseases aren’t so rare anymore and people need to know that. VO NARRATOR 25:46:00-25:50:00 MS of Maria Garibay and her 5-year-old nephew hugging 23:48:41-23:49:06 AT THE AGE OF 4 MARIA WAS DIAGNOSED WITH SPINAL MUSCULAR ATROPHY TYPE TWO; A GENETIC DISEASE THAT RESEARCHERS AND DOCTORS SAY HAS NO CURE. VO DR. RAMOS 04:09:27-04:09:52 MS of Maria Garibay and her 5-year-old nephew hugging 23:22:59-23:23:10 On Camera Dr. Leigh Ramos-Platt CG: Dr. Leigh Ramos-Platt Pediatrics and Neurology at Children’s Hospital Los Angeles In SMA in the spinal cord there is a particular cell called the anteor horne cell, which is responsible for the nerve, which makes our muscles move. And in SMA there is deterioration of that cell so there is miscommunication or a lack of communication between the brain and our muscles. VO NARRATOR 23:12:05-23:12:20 Chieng showing slides on the computer 34:15:20-34:15:40 WS Chieng sitting at his desk 34:17:10-34:17:15 CHIENG-PING KO IS A NEUROLOGY PROFESSOR AT USC AND HAS CONDUCTED SMA RESEARCH FOR THE PAST 4 YEARS. KO SAYS HE IS HOPEFUL THAT SOME COMPOUNDS 3 HE EXAMINED IN MICE GO INTO CLINICAL TRIAL AND HAVE THOSE BENEFIT SMA PATIENTS IN THE NEAR FUTURE. VO CHIENG-PING KO 23:15:10-23:15:30 On Camera Chien-Ping Ko CG: Chien-Ping Ko Professor & Head, Section of Neurology Department at USC Let’s say typically this particular mouse model will die in two weeks and after the compound treatment they can live up to 2-3 months. So that’s very significant. VO Chieng Ping-Ko WS of Maria Garibay inside her room 05:27:42-05:27:21 CU of Maria Garibay sitting on her bed 05:27:12-05:27:16 SMA is actually the number one genetic killer of children under the age of 2. One in every 6,000 babies is born with SMA and that’s pretty high. So one in every 40 people carries the gene that causes SMA. VO MARIA GARIBAY 21:18:23-21:18:54 CU and MS of Maria Garibay and her mother suctioning her saliva 05:28:45-05:29:01 On Camera Maria Garibay CG: Maria Garibay SMA Patient 21:19:09-21:19:39 Growing up, up until I was maybe teenage years I had a really good childhood. I really didn’t feel like I had a disability. I just thought it was normal. I had toys like everybody did; I went to school like everybody went to school. The only difference was that I could not walk. VO NARRATOR 04:47:27-05:04:04 CU of Picture of Maria Garibay at 2 years old 07:47:22-07:47:32 WS of Picture of Maria Garibay at same age 07:47:40-07:47:47 BUT MARIA’S LIFE HAS NOT BEEN NORMAL. FOR YEARS, MARIA’S PARENTS HAVE BEEN TOLD THAT THEIR DAUGHTER WAS IN HER LAST STAGES OF LIFE. THE FIRST TIME THEY WERE TOLD THIS WAS WHEN SHE WAS TWO YEARS OLD AND LIVING IN MEXICO. MARIA’S 4 MOTHER WANTED TO GIVE HER DAUGHTER A BETTER QUALITY OF LIFE THEREFORE THEY IMMIGRATED TO THE U.S. On Camera Luisa Garibay CG: Luisa Garibay Maria’s Mother/Primary Caregiver 04:59:57-00:09:21 Porque en México solamente me decían que era falta de calicio que era debilidad que tenia pero nunca me dijeron que esa enfermedad tenia. In Mexico doctors would only tell me that she had low calcium level. They never explained to me that she had SMA. VO LUISA GARIBAY 23:06:28-23:06:39 CU of Maria and her sister feeding her formula through g-tube 06:10:26-06:10:41 Me la enyesaron una vez que porque no tenía tobillos y que por eso era que no podía caminar. They put a cast on her once because doctors said she did not have ankles and they believed that was the reason why she was not able to walk. VO MARIA GARIBAY 21:21:03-21:21:25 CU of Maria and her sister feeding her formula through g-tube 06:10:26-06:10:41 Coming here was her dream of giving me a better life as far as doctors. VO NARATOR 05:41:22-05:50:17 CU of Maria’s feet and shoes CU of Maria’s Face 06:15:30-06:15:49 THERE ARE FOUR TYPES OF THE SMA DISEASE. THE AVERAGE LIFE EXPECTANCY FOR A PERSON LIVING WITH SMA TYPE 2 IS A VAGUE NUMBER. VO Doctor Ramos 4:33:06-04:33:33 MS of Maria on her bed 06:15:30-06:15:49 CU of wristband 06:13:55-06:14:36 MS of Maria’s hand and wristband 06:13:55-06:14:36 The charts all tell us adulthood. But It’s really hard to put a number on it because SMA is one of those very heterogeneous types of diseases. The categories 1, 2, 3 and 4 basically tell you when was the diagnosis made and what was the highest level of achievement they could do either sitting, or standing or walking. 5 VO NARRATOR WS of the Arreola’s apartment 09:14:20-09:14:30 CU of Arreola Family portrait 10:13:40-10:13:49 RARE CHILDHOOD DISEASES ARE DIFFICULT FOR EVERYBODY, BUT JUST LIKE THE GARIBAY’S HAVE COME TOGETHER AS A FAMILY DURING ADVERSITY SO HAVE THE ARREOLA’S IN DEALING WITH ANOTHER RARE DISEASE. Actuality interview of the Arreola family going through pictures and father talking about the experience 14:23:45-14:24:05 CU of Pictures 14:24:00-14:24:15 CU of face (Javier’s dad) 15:25:12-15:25:17 [Estas fotos] me hacen sentir muy bien Javier porque nos han dado tiempos muy bonitos Javi, hemos ido a la nieve, a campar, has jugado futbol, te hemos hecho cumpleaños, y nos haces sentir muy bien porque tú has tenido buen tiempo con tu hermana, con tu mama y conmigo. Y me hace sentir muy feliz. These pictures make me feel happy because they remind me of the good times we’ve shared together Javier, we’ve gone to the snow, camping, you’ve played soccer, celebrated birthdays and you have made us feel very good because we’ve shared more time together. The memories make me feel very happy. VO NARRATOR WS of Javier Arreola shooting a basketball 16:20:30-16:20:35 CU of Javier Arreola shooting a basketball 16:21:10-16:21:16 10-YEAR-OLD JAVIER ARREOLA SUFFERS FROM CYSTIC FIBROSIS, ANOTHER RARE DISEASE. HIS SENSE OF HOPE TAKES HIS OWN FAMILY BY SURPRISE AT TIMES BECAUSE HE HAS A CONTAGIOUS POSITIVE OUTLOOK ON LIFE SAYS HIS MOTHER. On Camera Javier Arreola CG: Javier Arreola Cystic Fibrosis Patient 08:14:20-08:14:35 The disease is hard to deal with. If you really try it’s like nothing. I can do mostly anything that a regular person could do. It’s just the extra care. Like with all my pills and my treatments. 6 VO ALEJANDRA ARREOLA 20:10:10-20:10:40 MS of Alejandra Arreola washing dishes 16:20:14-16:20:29 On Camera Alejandra Arreola CG: Alejandra Arreola Javier’s Mother/Primary Caregiver Cystic Fibrosis es heredara por los papas y esta enfermedad afecta en sus pulmones y sus intestinos El niño produce flema pegajosa que se le queda en los pulmones y si el niño no tiene tratamientos diario para limpiarle sus pulmones el no aguantaría tantas neumonías. Y tambien sus intestinos no absorben nutrientes. Cystic Fibrosis is inherited by the parents and the disease affects the lungs and intestines. The child produces sticky mucus that stays in the lungs and if the child does not have daily treatments to clean his lungs he would not survive all the constant pneumonia. And also their intestines are not absorbing nutrients. Actuality of Javier Arreola interview at dinner table 18:26:12-18:26:37 When I eat I need to take these pills because they help and give me the nutrients that my body requires to have in my intestines. VO NARRATOR CU of Javier Arreola playing with his cousins ‘ 30:35:14-30:35:30 WS of Javier Arreola playing with his cousins 30:36:10-30:36:23 CYSTIC FIBROSIS IS A LIFE- THREATENING GENETIC DISEASE. IT AFFECTS APPROXIMATELY 30,000 CHILDREN AND ADULTS IN THE U.S. AN ADDITIONAL TEN MILLION MORE OR ABOUT ONE IN EVERY 31 AMERICANS ARE CARRIERS OF THE DEFECTIVE CYSTIC FIBROSIS GENE. On Camera Alejandra Arreola 18:14:20-18:15:05 Conforme fue pasando el tiempo vimos que era una enfermedad tremenda. A él le afectan sus pulmones si agarra neumonías muy seguido y el saber que tu niño puede estar bien ahorita y que mañana se te puede morir eso para una familia es terrible. 7 As time went by we saw that Cystic Fibrosis was an awful disease. If his lungs are affected he can catch pneumonia very often and to know that your child may be well right now and tomorrow he may die-- that is terrible. On Camera Karina Arreola CG: Karina Arreola Javier’s Sister 40:34:16-40:34:28 It’s changed me as a person; it’s showed me how to care for people and how to be understanding and how to want to give help to others because that’s really what people need. Actuality Interview of Javier Arreola showing his breathing treatment and explanation 17:05:40-17:06:05 This is my breathing treatment and this is how I set it up in the mornings before I go to school and at night before going to bed. I do these breathing treatments twice a day to help me breathe better because otherwise there’s a lot of mucus that clogs my lungs and other organs in my body. VO NARRATOR 07:55:09-08:07:05 CU of Maria’s hand and wristband 06:13:55-06:14:36 MARIA WAS TOLD BY MARIA DE JESUS, HER OLDER SISTER THAT THEIR PARENTS WERE NOT GIVEN MUCH INFORMATION ABOUT SMA BY HER DOCTORS IN MEXICO AND THAT NOW THEY HAVE LEARNED MUCH MORE ABOUT IT. On Camera María Garibay 21:22:46-21:23:16 VO MARIA GARIBAY 21:22:46-21:23:16 MS of ventilator on Maria 07:12:03-07:12:39 As parents there’s a lot that they do not want to hear. They do not want to really see that in a few years I am going to have to be on a ventilator. They don’t want to see that there’s going to be a point where I am not going to be able to communicate. VO DR. RAMOS 04:18:33-04:18:51 On Camera Dr. Ramos 04:18:33-04:18:51 CU of Maria’s face and her ventilator 07:12:03-07:12:39 The reason why SMA babies seem normal at birth is because they can still use some of their mother’s protein and then they can no longer make any. People with SMA do have some SMN protein, just very little. 8 On Camera Chien-Ping Ko 40:18:30-40:19:10 MS of over the shoulder of Doctor Ko 02:06:36-02:06:46 CU of Doctor Ko 02:07:40-02:07:50 In normal person we have two genes. One is called survival of motor neuron or SMN 1. As well as SMN 2. As a result SMN 2 expresses only 10% of the functional proteins called SMN proteins. By in patient because they do not have SMN 1 or mutated SMN 1 they rely on SMN 2, but SMN 2 only make a small amount of functional protein. So it depends on how many copies of SMN 2 the patient have, that affect their severity. If they have more copies of SMN 2 their symptoms would be less severe. VO CHIEN-PING KO CU of computer with pictures of SMA 04:00:18-04:00-25 You don’t just do research on SMA you need knowledge from other areas. So yeah this certainly would not be possible 30 years ago without the technology now available these days. So this is the right timing. VO Dr. Ramos 04:12:18-04:12:36 CU of mice in Doctor Ko’s laboratory 02:02:52-02:03:09 Right now there is no real medication for SMA. A lot of our treatment is supportive, but there’s a lot of research going into SMA and they have done several trials of different medications. A lot of them have not worked. VO NARRATOR 16:20:10-16:20:20 CU of Javier arranging his breathing treatment 04:08:10-04:08:17 THERE ARE MANY REASONS WHY A CURE IS YET TO BE FOUND FOR SMA AND CYSTIC FIBROSIS, BUT MONEY IS THE BOTTOM LINE. VO MARCY SMITH 09:17:20-09:17:30 CU of Breathing treatment 04:09:11-04:09:19 I do not think there’s money to be made from rare pediatric diseases. Not as much money as adult diseases and rare diseases even less. I mean you could have one disease where there’s 2,000 kids and that’s just not making the money. VO JAVIER ARREOLA 08:07:16-08:07:27 Over the shoulder of Javier putting his vest on for treatment 05:06:25-05:06:34 It’s maybe too hard or they need more information about the disease and more medicine and maybe a little bit more money to maybe buy the stuff or invent the medicine. 9 VO ALEJANDRA ARREOLA 10:17:50-10:18:09 Javier with his treatments on and performing his routine 06:07:15-06:07:23 Javier connecting vest to another pipe 06:08:13-06:08:18 El Corazón de los niños debería estar en los niños porque los niños son el futuro de nuestras vidas. Y si enfocarse más en las necesidades de los niños que sería un gran cambio. Sería una luz, sería un cielo para nosotros, una cura para Javier. Our hearts should be in the children because children are the future of our lives. And if you focus more on the needs of children that would be a big change. It would be a light, a lot of hope for us, and a cure for Javier. VO DR. RAMOS 17:05:40-17:05:50 WS of Javier on the bed with his equipment 08:09:10:08:09:17 Other things that could be contributing is as far as the voice. Who is more vocal for where our funds go, where our taxpayer dollars go. It’s not always SMA families that are louder. VO NARRATOR 20:11:15-20:25:18 CU and MS of Maria’s sister putting white sweater on Maria 06:16:05-06:16:33 MARIA SAYS THAT OVER TIME SHE HAS GOTTEN WEAKER AND LOST THE SLIGHT INDEPENDENCE THAT SHE ONCE HAD BECAUSE HER DISEASE HAS CONFINED HER TO A BED. THERE’S AN ENORMOUS AMOUNT OF WORK THAT IT TAKES FAMILIES TO SEE THEIR LOVED ONE’S THROUGH EVERY DAY. VO LUISA GARIBAY 05:19:17-05:19:31 CU and MS of putting sweater on Maria 06:16:05-06:16:33 Después pensé que era mejor salirme de trabajar y estar con ella que volver a trabajar. It was 26 years ago when I stopped working and figured out that it would be best to become her full-time caregiver. On Camera Alejandra Arreola 10:18:25-10:19:00 A las 8-9 de la noche allí empieza mi trabajo como mama. Allí empiezo los tratamientos de Javier, empiezo a llenarle su bolsita de leche, empiezo a conectarlo, 10 sus medicinas por el tubo. Yo termino alrededor de las 11:30 de la noche. Me levanto a las 3 de la mañana a darle sus pastillas. Y para amanecer tengo que levantarme antes de las 6 de la mañana a ponerle otra vez sus tratamientos. At 8-9 p.m. there begins my job as a mom. That is when Javier’s treatments begin, I begin to fill his bag of milk, and I begin to connect him to his machine, place his medications through the tube. I finish around 11:30 p.m. I get up at 3 a.m. to give him his pills. And I have to get up before dawn at 6 a.m. to connect him to his treatment that he performs before going to school. VO NARRATOR 08:35:07-08:46:28 CU and WS of Maria getting carried into the living room 06:20:05-06:20:30 MARIA SAYS SHE TAKES DAILY MEDICATIONS FOR HER ACID REFLUX AND ANEMIA. BUT THE MOST IMPORTANT IS HER TWICE A DAY AEROSOUL TREATMENT, WHICH HELPS HER EXPAND HER LUNG. VO Maria Garibay 21:27:11-21:27:25 WS of Maria getting carried by her sister 06:20:05-06:20:30 The more and more my back was shaped like an “S” it was compressing into my lungs. And that in the end would have caused my life to be shorter. VO DR. RAMOS 04:28:28-04:28:38 MS and WS of Maria receiving assistance from sister and mom to sit on her wheelchair 06:20:33-06:21:13 You have no resistance onto those bones they can get weaker you get curved back or scoliosis. Your bones can get thin because of disuse. VO NARRATOR 10:51:11-11:05:08 MS of Maria on her wheelchair 06:20:33-06:21:13 MARIA SAYS THAT BEFORE HER SPINAL SURGERY DURING WHICH A METAL ROD WAS PLACED NEXT TO 11 HER SPINE, SHE WOULD GET PNEUMONIA ALL THE TIME, BUT WAS TOLD BY DOCTORS THAT THE SURGERY WOULD REDUCE THE CHANCES OF GETTING SICK OFTEN. On Camera Maria Garibay 21:32:31-21:32:46 CU of Maria positioned on her wheelchair 06:20:33-06:21:13 Everything that is a muscle in my body is going with time decrease. My eyesight, my breathing, my heart, it’s just something I know I have to deal with. On Camera Dr. Ramos 04:20:18-04:20:31 G-tube has to be placed pretty soon because not only are they having difficulty swallowing, but in order to even keep the food into the stomach you need some kind of muscular in your trunk. VO of Maria Garibay 21:34:07-21:34:31 Over the shoulder shot of mother cleaning shrimp in the kitchen 05:31:15-05:31:40 But when it just happens from one minute to the next and when it is something so big as the pleasures of eating that is hard. And it was really hard on my family. My mom she stopped cooking. On Camera Luisa Garibay 23:04:31-23:04:47 Subtitles: “Ever since she lost her swallow I stopped eating in front of her. It’s sad that I can eat and she cannot.” Yo nunca he comido enfrente de ella. A mi se me hace triste estar yo comiendo y que ella me este viendo. VO NARRATOR 14:17:03-14:28:20 MS of Maria going on ramp into the van 06:32:32-06:32:58 EVER SINCE MARIA COMLETELY LOST HER ABILITY TO SWALLOW SHE GETS FED VIA A GASTRIC TUBE EVERY HOUR. SHE RECEIVES A NUTRITIONAL FORMULA AND HAS SOMEONE SUCTION HER SALIVA EVERY 1-5 MINUTES. 12 VO NARRATOR 15:29:19-15:38:16 CU of Maria inside the van 06:32:32-06:32:58 IT WAS FOUR YEARS AGO WHEN MARIA WENT INTO A SERIOUS DEPRESSION AFTER SHE LEARNED THAT SHE WOULD NO LONGER BE ABLE TO SWALLOW AND HER MOBILIY GOT WORSE. VO Maria Garibay 22:01:52-22:02:05 CU of Maria’s sister putting on the seatbelt 06:33:12-06:33:32 I did not want to be here anymore. I did not want to spend my whole life on a bed in a room. I did not want it, but I have a really good family. VO Dr. Ramos 04:23:07-04:24:15 MS and WS of Maria exiting the van off the ramp 06:37:28-06:37:52 There are some normal aspects to their lives, but you know again normal is how you define it. They can talk some of them actually do require to have a tracheostomy placed because their breathing muscles are so weak they can’t breathe enough, but they are still able to go to school. They are still able to participate in some social aspects. VO NARRATOR 17:18:40-17:18:50 CU of Javier’s g-tube as he explains his tube 09:08:12-09:08:26 WS of Javier connecting milk to his g-tube 10:12:34-10:12:42 EVEN THOUGH JAVIER IS DEALING WITH A COMPLETELY DIFFERENT RARE DISEASE THAN MARIA HE ALSO HAD A GASTRIC TUBE PLACED IN HIS STOMACH AT 8 YEARS OLD TO OFFER HIM A HEALTHIER LIFESTYLE. VO Alejandra Arreola 05:09:17-05:09:40 Javier getting fed via the g-tube 10:13:45-10:14:03 Javier taking off the equipment that feeds him his milk 10:17:25-10:17:40 Entonces ya llego un determinado momento en que el Doctor dijo si no le ponemos esto el niño no va crecer de peso y él se va enfermar de otras cosas y fue cuando él decidió y nosotros también como familia ponerle el tubito en el estomago. 13 Then it came a certain point where the doctor said that if we did not place the g- tube the child would not grow, therefore will get sick from other things and that's when we decided as a family to place the g- tube into the stomach. Javier Arreola 14:21:06-14:21:17 CU of Javier’s g-tube and face 11:09:18-11:09:34 It helps me gain more weight throughout the night because I have medicine throughout the night. And before when I did not have this I weighed like around 30 pounds and now I weigh 65 pounds. So it’s really helped me. Karina Arreola 21:34:00-21:34:23 Javier putting away his equipment in the closet 08:09:17-08:09:25 I see him with his tube and I feel like if I had it would be different I would not feel comfortable with people, but I see him and he does not care he shows people it makes me a better person. VO NARRATOR 16:37:17-16:55:01 MS of Maria entering the ice cream store 06:40:00-06:40:11 MARIA SAYS SHE LIVED MORE OF A NORMAL LIFE IN THE PAST FOR INSTANCE WHEN SHE WAS PURSUING HIGHER EDUCATION. MARIA GRADUATED FROM NARBONNE HIGH SCHOOL WHERE SHE ALSO ATTENDED CLASSES WITH STUDENTS THAT DID NOT HAVE DISABILITIES. SHE SAYS SHE REMEMBERS BEING BULLIED DURING 8 th GRADE. VO Maria Garibay 21:46:46-21:46:58 MS of Maria inside ice cream store 01:34:53-01:35:07 CU of Maria tasting ice cream 01:35:22-01:36:07 It hurts to say that, that was the first time I saw people judging me for who I was. 14 VO NARRATOR CU of Maria tasting ice cream 01:35:22-01:36:07 MS of Maria exiting the ice cream store 01:35:22-01:36:07 MARIA SAYS SHE LOVED THE OVERALL EXPERIENCE OF GOING TO A REGULAR SCHOOL BECAUSE SHE WAS GETTING OUT OF THE HOUSE AND AROUND OTHER PEOPLE. SHE CONTINUED WITH HER HIGHER EDUCATION AT L.A. HARBOR COLLEGE UNTIL AGE 30. THE DOWNWARD PROGRESSION OF SMA FORCED HER TO QUIT SCHOOL. VO Maria Garibay 21:54:53-21:55:23 WS of Maria exiting the ice cream store 01:35:22-01:36:07 I wanted to be an accountant because I felt that was something I could do. I was good with numbers. VO NARRATOR 35:09:12-35:09:21 WS of Family playing a game 16:34:20-16:34:27 AT WEST WHITTIER ELEMENTARY SCHOOL WHERE JAVIER IS A 4 th GRADER HE EDUCATES HIS FELLOW CLASSMATES ABOUT HIS DISEASE. VO Javier Arreola 17:43:08-17:43:17 CU of cards 16:34:34-16:34:43 I do tell them just to know that all the kids that have it or have other diseases that like it’s not good to make fun of them, but more to encourage them. And tell them it’s going to be okay or stuff like that. On Camera Javier Arreola 14:10:13-14:10:24 CU of Javier’s face 17:21:08-17:21:19 I like playing with my friend’s soccer, swimming. I usually swim and I have a boogie board and I lay on it and the wave just picks me up and it feels like I am flying. VO NARRATOR 19:40:19-20:01:02 CU of Maria and sister after exiting ice cream store 01:35:22-01:36:07 MARIA SAYS THAT SHE IS HAPPIEST WHEN SPENDING TIME WITH HER NIECES AND NEPHEWS. EVEN THOUGH SMA PATIENTS COULD GIVE BIRTH, MARIA WOULD NEVER WANT TO BE A MOTHER. 15 VO NARRATOR 20:57:14-21:05:08 MS of Maria entering the ramp on the van 01:44:12-01:44:35 SINCE MARIA’S DISEASE IS PROGRESSIVE THAT HAS BROUGHT CHANGES IN TRANSPORTATION. SHE HAS CHANGED HER WHEELCHAIR SEVERAL TIMES TO ACCOMMODATE HER MOBILITY NEEDS. VO Maria Garibay 22:14:25-22:14:36 CU of Maria entering the ramp on the van 01:44:12-01:44:35 I just hate having to go through all of it. Sometimes even going out it’s like: really do I really want to go? VO Dr. Ramos 04:27:23-04:27:57 CU of Maria entering the ramp on the van 01:44:12-01:44:35 On Camera Dr. Ramos 04:27:23-04:27:57 It’s an uphill battle for them and we know that. It’s a big strain to the family and they also probably need support groups. So it is very difficult for them to shuffle from one clinic to the next to the next. On Camera Marcy Smith 23:12:18-23:13:10 I wish friends could continue to be supportive and not get frustrated and understand that’s the case and the parent’s need the constant support. Come over and see this child for a while. Give these parents some time. That’s what we lose. We lose time and I think if other parents were not so afraid of the diagnosis. Don’t be afraid of it. It’s just a different diagnosis; it’s not black and white. It’s great, but boy we need your support. VO NARRATOR 22:27:16-22:38:08 MS of Maria inside the van 01:29:37-01:29:48 AFTER THE EMOTIONAL TOLL THAT FAMILIES OF CHILDREN WITH A RARE DISEASE FACE, THE NEXT MOST DIFFICULT PROBLEM IS AFFORDING THE EQUIPMENT BACAUSE TREATMENTS CAN BE EXTREMELY COSTLY. JAVIER AND MARIA ARE SUPPORTED BY DIFFERENT HEALTH INSURANCES. 16 VO Marcy Smith 16:32:12-16:32:22 Javier playing Wii 08:19:23-08:19:34 It drains you because you are going to try alternative therapies that are not paid for. One of the parents is going to have to be around to take care of the child so it’s a huge financial burden. VO NARRATOR 17:45:10-17:45:20 CU of Javier’s hands with Wii control 08:20:30-08:21:00 MARCY SMITH ENJOYS SEEING PEOPLE UNITE THROUGH MADISON’S FOUNDATION AND TO BE ABLE TO PROVIDE A WEBSITE- BASED SUPPORT GROUP WHERE PARENTS CAN IDENTIFY WITH EACH OTHER’S STRUGGLES. VO Marcy Smith 21:45:11-21:45:30 Over the shoulder of Javier facing T.V. 08:23:09-08:23:19 Parents are going on from all over the world. And I am connecting parents from China to Ohio and they are sharing protocols with each other. Things that I cannot write down they are allowed to share with each other. On Camera Marcy Smith 15:09:14-15:09:30 I think what is really hard with a rare disease is there isn’t a community out there. In order to get one you have to start it. Now you are already overwhelmed with having this child with this rare disease. You don’t know everything is so up in the air, medication. It’s so hard to turn around and start a support group also is a lot so I think that’s why we kind of fall through the cracks. On Camera Chieng-Ping Ko 01:38:09-01:38:21 I think it would be nice to have more people paying attention to this because this is a very good genetic model for neuron degenerative diseases if we understand how to treat this. VO Marcy Smith 23:13:15-23:13:40 CU of Javier with microphone 43:20:16-43:20:26 A couple of the congressmen have children that have rare diseases so that’s bringing attention to it and if more people are being affected by rare diseases every day, we are having more genetic mutations which are bringing in more rare diseases. So as people 17 are affected, parents and parents that work in Congress it’s going to become more of an issue. And I think that will help push things through. VO Karina Arreola 16:23:50-16:24:14 WS of Javier and his family watching singing 17:19:22-17:19:40 Yeah I think it would help a lot if there was more money because I know money goes to other things such as war, stuff like that. But yet people have to see put themselves in the position that were in how it’s like to have people like this sick, and there could be a cure with money, research because everything is possible. VO Chieng-Ping Ko 33:20:19-33:20:38 Over the shoulder of Javier with microphone 17:20:20-17:20-40 Once I get into the field NIH funding is terrible for everyone anyway. Of course SMA field is not immune to this larger problem. I think the NIH is really a top- notch federal government, they should not be cut. On the contrary, they should be really put more funding into NIH. The basic finding that’s the strongest in this country is the size, innovation, and how can the government not pay attention to this. VO NARRATOR 07:18:07-07:18:30 CU of Javier’s face 13:11:10-13:11:23 ACCORDING TO PROFESSOR KO THE FUTURE OF SMA CLINICAL TRIALS FOR SMA LOOKS PROMISING AFTER DOING SOME COLLABORATION WITH PHARMECEUTICAL COMPANIES. On Camera Chieng Ping-Ko 22:14:09-22:14:18 At least in mice these several compounds might be very helpful and hopefully they can be helpful to human patients as well. VO NARRATOR 23:36:03-24:01:05 MS of Maria and family helping her come up the ramp at sister’s house 01:48:02-01:48:27 SINCE SMA AND CYSTIC FIBROSIS ARE RARE DISEASES THAT MAKES FUNDING FOR RESEARCH MUCH MORE DIFFICULT. THE NATIONAL INSTITUTES OF HEALTH PLAYS A BIG ROLE IN 18 RESEARCH. LAST YEAR THEY ALLOCATED 19 MILLION DOLLARS TO SMA RESEARCH AND 79 MILLION TO CYSTIC FIBROSIS. IN COMPARISON TO OTHER NON-RARE DISEASES THAT IS A SIFNIFICANTLY LOW NUMBER SAY DOCTORS AND RESEARCHERS. On Camera Marcy Smith 18:45:11-18:45:20 The drugs are being made for adults not the children, that’s where the money is being made and you know that seems to be the bottom line. VO NARRATOR 10:15:50-10:16:07 CU of Maria inside the house 01:50:08-01:50:19 WHILE SOME PARENTS SUCH AS, MARIA’S AND JAVIER’S FIND HOPE IN THEIR OWN CHILDREN, MARIA AND JAVIER REMAIN HOPEFUL THAT CONGRESS WILL SOON INVEST MORE MONEY TOWARD MORE RESEARCH ON RARE DISEASES TO FIND CURES FOR SMA AND CYSTIC FIBROSIS. On Camera Javier Arreola 17:50:11-17:50:25 First I am going to be a scientist to find a cure, then after that I am going to quit being a scientist and be a doctor to help the kids. But, maybe it’s going to be a little too late because I don’t think they will need helping because there will be a cure for it already. On Camera Karina Arreola 22:17:22-22:17:42 He has an extraordinary mind. He cares a lot for people and he’s a great kid. I know he’s going to be something in life. VO Alejandra Arreola 19:10:00-19:10:10 CU of face of Alejandra Arreola at Kitchen 17:00:10-17:00:17 Javier nos ha dado vida en nuestro hogar. Javier nos ha dado también mucha fuerza para seguir adelante. 19 Javier has given our home a new life. Javier has also given us great strength to keep going. On Camera Alejandra Arreola 19:10:11-19:10:21 A mí me gustaría invitarlos un día a mi casa. Un día completo. Y yo pienso que eso va ayudar. Vengan a ver cuál es la vida de Javier. Yo estoy segura que después de allí van a tomar muchas decisiones. I really would like to invite all Congressmen to my house one day. A full day. And I think that will help. Come see what the life of Javier is like. I'm sure after that they’ll be making new decisions. Actuality of Javier with his family hugging each other 18:19:10-18:19:18 Javier: I Love all of you. Family: We love you too, Javier. VO Maria Garibay 22:30:45-22:52:39 WS of family around table talking 01:51:06-01:51:28 I think everybody would want a cure especially if you are the one living with it. I do not know how much more time I have and I know I am such a big part of their life, but when I am not there anymore I want my mom to be okay. On Camera Maria Garibay 22:30:45-22:52:39 And I do not know if she will be because I have taken up so much of her. On Camera Luisa Garibay 33:16:09-33:17:01 Le digo a ella que Dios es muy bueno con nosotros porque yo cada día que pasa le doy gracias a Dios por un día más con mi familia. Pero ella si mira que yo estoy mal o que su papa está mal ella trata de ayudarnos del modo que ella puede pero yo espero que ella siga así que si yo un día no estuviera con ellas me gustaría que siguieran unidas como siempre. Natural Sound Full VO MARIA GARIBAY AND EMMA ESQUIVEL MS Emma running towards her aunt 01:48:32-01:48:39 CU of Emma kissing her aunt on the forehead 01:48:56-01:49:11 María: Hi! Emma: Tia Boris. Maria: Give me a kiss. 1, 2, 3. Maria: Slowly. Slowly. I love you. Emma: On the forehead. 20 Bibliography ABC News. “Living Dangerously with Cystic Fibrosis.” <http://abcnews.go.com/Health/story?id=4484870&page=1#.T1gd978tm8o>. Last accessed March 2012. Arreola, Alejandra. Personal Interview. March 2011. Arreola, Javier. Personal Interview. March 2011. Arreola, Karina. Personal Interview. March 2011. Cystic Fibrosis Foundation. <http://www.cff.org/AboutCF/Faqs/>. Last accessed March 20, 2012. Counsyl. <https://www.counsyl.com/diseases/spinal-muscular-atrophy/>. Last accessed November 2011. Families of SMA. <http://www.fsma.org/>. Last accessed November 20, 2011. Garibay, Luisa. Personal Interview. September 2011. Garibay, Maria. Personal Interview. September 2011. 21 Ko, Chien-Ping. Personal Interview. March 2011. Los Angeles Children’s Hospital. <http://www.chla.org>. March 2012. Madison’s Foundation. <http://www.madisonsfoundation.org/>. Last accessed March 2012. National of Health “Estimates of Funding for Various Research, Condition, and Disease Categories (RCDC).” <http://report.nih.gov/categorical_spending.aspx>. Last accessed March 28, 2012. National Institutes of Health. <http://nih.gov/>. Last accessed March 27, 2012. Smith, Marcy. Personal Interview. March 2011. Ramos-Platt, Leigh. Personal Interview. October 2011. The SMA Trust. <http://www.smatrust.org/>. Last accessed November 2011. USC Neuroscience. <http://www.usc.edu/programs/neuroscience/faculty/profile.php?fid=47>. Last accessed March 28, 2012.

Abstract (if available)

Abstract Rare diseases or also commonly known as orphan diseases are devastating for the person dealing with them, but also for the entire family. They are emotionally difficult to deal with, but also a huge financial burden for families because they require a lot of treatments and medication. The two rare diseases that will be profiled have no cure. Experts, say that two of the main reasons why a cure is yet to be found for these two rare diseases are the fact that they are rare, which do not affect a larger population and not enough money is invested in them to do more research. ❧ In particular, Spinal Muscular Atrophy has research being done at a university level by Chien-Ping Ko, professor at USC, and he feels optimistic about soon finding a drug that will give cure to patients or at least minimize the pain that SMA patients bear. ❧ This documentary profiles Maria Garibay, a Spinal Muscular Atrophy Type 2 patient who was diagnosed with this rare disease at 2 years old. She was never able to walk, but feels she had some kind of independence when she was younger because she completed high school and was able to go outdoors more than now since she is confined to a bed for the majority of the time. Her mother is her primary caregiver and she stopped working to provide for her daughter’s needs daily. ❧ Javier Arreola is also profiled in this documentary and suffers another rare disease called Cystic Fibrosis. He was diagnosed at 1 year and 6 months with this rare disease and his level of hope for a cure to be found is very optimistic at 10 years old. Just like Maria, Javier also goes through daily treatments and takes medication to provide him a healthier lifestyle, but most importantly to prolong life. To provide context for Maria’s and Javier’s life experience, their stories are supplemented by expert interviews, including Professor & Head Section of Neurology Department of Biological Sciences at USC, Doctor of Pediatrics and Neurology at Children’s Hospital Los Angeles, and the CEO of Madison’s Foundation, a non-profit organization that provides support to moms and dads of a child dealing with a rare disease. Accompanied to the stories are also Maria’s and Javier’s family members.

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University of Southern California Dissertations and Theses

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Asset Metadata

Creator Gustavo, Gutierrez (author)

Core Title Rare diseases

School Annenberg School for Communication

Degree Master of Arts

Degree Program Journalism (Broadcast Journalism)

Publication Date 05/09/2012

Defense Date 05/08/2012

Publisher University of Southern California (original), University of Southern California. Libraries (digital)

Tag Children's Hospital,cystic fibrosis,Diseases,funding,Madison's Foundation,OAI-PMH Harvest,rare,spinal muscular atrophy,Spinal Muscular Atrophy research.,type II,U.S. Congress

Language English

Contributor Electronically uploaded by the author (provenance)

Advisor Birman, Daniel H. (committee chair), Gutierrez, Felix (committee member), Ko, Chien-Ping (committee member)

Creator Email g2gutierrez@yahoo.com,gutie5@usc.edu

Permanent Link (DOI) https://doi.org/10.25549/usctheses-c3-37380

Unique identifier UC11289211

Identifier usctheses-c3-37380 (legacy record id)

Legacy Identifier etd-GustavoGut-821.pdf

Dmrecord 37380

Document Type Thesis

Rights Gustavo, Gutierrez

Type texts

Source University of Southern California (contributing entity), University of Southern California Dissertations and Theses (collection)

Access Conditions The author retains rights to his/her dissertation, thesis or other graduate work according to U.S. copyright law. Electronic access is being provided by the USC Libraries in agreement with the a...

Repository Name University of Southern California Digital Library

Repository Location USC Digital Library, University of Southern California, University Park Campus MC 2810, 3434 South Grand Avenue, 2nd Floor, Los Angeles, California 90089-2810, USA