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Keeping Kids Healthy Video transcription
Transcribed by Marion Clark
The following is a transcription of the video available at the following link: http://www.keepingkidshealthy.org/topics/friedreichs-ataxia
“Living with Friedreich’s Ataxia”
segment of the weekly educational television program Keeping Kids Healthy
Produced by Montefiore Medical Center in association with Thirteen/WNET-New York and syndicated nationally by American Public Television.
Winnie King, M.D.
Dr. Winnie King: Hello, I’m Dr. Winnie King, and I’m here in the lobby of the Children’s Hospital at Montefiore in New York City, so you may hear some noise or even ambulance sirens in the background.
You may not know that about 100,000 people in the U.S. have an inherited disorder that we call ataxia, which means that they’ve lost the coordination in their arms or legs or sometimes in other parts of their body. But one of the most common forms of ataxia is called Friedreich’s ataxia, or FA. It leaves a child’s mind untouched, but it makes a really savage attack on their bodies. It can damage their heart and cause their spines to curve. But it also takes away their strength and balance and their ability to walk and even talk. And eventually, if a cure isn’t found, it may take their lives.
But despite the tremendous challenges these kids face, they’re still kids, and with the support of their parents, they just push ahead and live their lives like the rest of us do. It is remarkable the strength people have inside when they really need it.
Come with us to North Brantford, Connecticut, and meet the two Bode sisters, Samantha and Alexandria.
Samantha Bode: Some of the—like--research and stuff said I wasn’t even going to live past seventeen. I didn’t really know what to feel, because—like--you’re eight, and when you’re eight, you think, “When I’m seventeen, I’ll probably--all the fun’ll be out of life and it’ll be no big deal,” and whatever…
But as I got older, and like, as I became fourteen, fifteen, I started to get worried, I was--like—“WHOA! I’m having a lot of fun—I don’t think it’s gonna be done in two years…”
Mary Caruso: Sam was born in ’86. Alex was born in ’90. And for the sake of a better word, it was perfect. Our life was perfect. We were really enjoying ourselves…
Samantha & Alex’s mother
…and then one day, Sam came home from karate class and said that they were doing an exercise, she had to close her eyes. She fell over!
And then I started to notice—“Gee, she’s walking through the door, she’s hitting the sides of the door jamb,” and a few little things like that started to happen. So---I---I was really alarmed. And a lot of people were telling me I was crazy, and---you know--what was I talking about—nobody saw anything.
So I actually brought her to a neurologist, and they gave me the diagnosis. The neurologist wrote on a piece of paper, “Friedreich’s ataxia--progressive neurologic disorder,” and she said to me, “What does this mean to you?”
And I said, “Well, nothing really means anything to me except for the word ‘progressive’.”
She said, “Take your family vacations now,” and she said, you know, “Consider yourself lucky that MDA will pay for your wheelchairs,” and I said, “You’ve gotta be kidding me.”
So in like--this little teeny amount of time, absolutely everything--changed.
Mary Caruso (to Samantha): How was work?
Samantha Bode: It was good. How was work for you?
Mary Caruso: Good! Got it? I gotcha!
(to interviewer): I learned that there was no treatment and that cardiomyopathy, an enlargement of the heart, is usually the final blow to these kids—you know, the heart gets so big that it just can’t work any more. It was basically pretty doom and gloom.
Mary Caruso (to Samantha): Doing okay?
Samantha Bode: I almost called you during the day, because…(fades out)
Dr. David Lynch: In Friedreich ataxia, people have abnormalities in a particular gene. They don’t make any of the protein which is coded by that gene.
David Lynch, M.D.,
Director, Clinical Trial Network for FA
They don’t make enough energy, thus they’re always fatigued, and over time, some of the cells of their body die because they don’t make enough energy.
20 years old
Samantha Bode: From five years old, I was a big horseback rider. I loved sports, I was the biggest sports fan you could ever imagine. I loved being outside like running around. And I can’t do that any more. And it--it kills me!
Mary Caruso (to Samantha): Remember, out is easier than in.
Dr. David Lynch: Over time people lose their coordination of their hands as well as the ability to walk. It affects lots of different systems. They can have difficulties with speech. They also have heart troubles. And some people can have visual loss as well as a loss of the ability to hear. The spine becomes curved over time, and we’ll have to correct that in some individuals as well.
Mary Caruso: Imagine the biggest blow, like just somebody sucking the wind right out of you. I think I went through—like--a mourning process, you know, a loss of what--you envisioned for your children.
Sam with physical therapist
Samantha Bode: Now let’s keep count.
Physical therapist (laughing): You’re supposed to keep count!
Samantha Bode: Your one job! Your one job!
Physical therapist: I’m concentrating on watching your mechanics.
Dr. Lynch: The individuals with Friedreich’s ataxia do not change in their thinking abilities. They are cognitively normal people.
Physical therapist: That was eight.
Samantha Bode: Six!
Mary Caruso: I had decided that I was not gonna sit down and tell her everything, that I was going to answer questions honestly as she asked me. And I found that she really asked appropriate questions at the appropriate times.
Samantha Bode: It not only hurts physically, but it hurts emotionally and mentally, so….I don’t know what I did in a past life, or I don’t know what I did to deserve this, but I want a refund! (laughs)
Mary Caruso: Alex was about four when Sam was diagnosed and they explained it to Alex. And I remember saying to myself, “I’m not gonna worry about that, because God would never do that to anybody! Both kids, two out of two?”
Alex Bode: I tried to—like--block it out--But when I first learned about it—like--I was little so I didn’t really understand—like--that I’d be in a wheelchair, and I didn’t really understand–like--what it was or--like--why—why I wouldn’t be able to--like—play on the playground with everyone…
Dr. Lynch: Sam and Alex may be sisters, but they in fact look different in many ways even from the point of their disorder. Sam, she’s had mainly balance dysfunction. She has some issues with regard to curvature in her spine. But her heart is also very much under control. In contrast, her sister Alex has a very different build--she’s much thinner and she’s had a lot more difficulty with curvature of the spine, having to have a correction several years ago.
Physical Therapy Appointment
Physical therapist: That-a-girl…Lock those knees up…Better?
Alex Bode: Mmm-hmmm.
Mary Caruso: She had two rods put all the way down either side of her spine from her shoulder blades down to her pelvic bones with all the little clips all the way down. It was a seven or eight hour surgery. She didn’t really have an option…She was very brave.
Dr. Lynch: Alex has had more issues as well with her heart, and particularly a rapid heartbeat recently.
Alex Bode (to therapist): When I try to use my knees, then I have to use my arms.
My biggest dream was to be a dancer, but that’s a little--ummm--unrealistic, so--I kind of ruled that out a while ago. But—um--I just wanna--like…My dream is to just be happy and to accept the fact that…I can’t do everything…and I still live my life—like--pretty well….
Dr. Winnie King: So what does it take to live life pretty well? Part of it is just plain perseverance, a refusal to be beaten down, and a determination to make the best of the deck you’ve been handed. But it also requires a support team, a parent to sustain and guide these kids through their daily lives, and a medical support team to help them fight back against every inch of the disease’s progress.
Today Alex and her mom are going to a speech therapy session. They’ve invited us to join them.
Mary Caruso: Let’s go!
People say to me a lot, “I could never do what you do,” but people don’t really know what they’re capable of…
(to Alex)All right—on three—one, two—push---okay.
Mary Caruso: I’d say we’re in and out of the car a half a dozen times a day at least—there’s also—you know—in and out of bed—showers—So I mean, lifting is part of life—lifting is life…
(to Alex) Remember when you spoke to Dr. Purdy on the phone?
Alex Bode: Yeah…
Mary Caruso: Did she explain to you any--any of the things you might do—that you’re gonna do together?
Alex Bode: She just told me--like--that she’d just be talking to me and listening to how I…my voice sounds and how my breath is…
Mary Caruso: Uh-huh…
Alex is very insightful and she’s a great writer. But over the last six months to eight months she’s had a little bit of difficulty with people understanding her.
Alex Bode: I sound different to myself--like--in my head. And I can’t understand, like, why I sound….Why they can’t understand me. I know this disease is progressive, but I just don’t want it to get that bad.
Dr. Purdy: How are ya?
Mary Caruso: Good, how are you?
Dr. Purdy: I’m good. Want just go around the corner?
Mary Caruso: Scoot out?
Dr. Mary Purdy, Ph.D.
Dr. Purdy: I want to get an idea of how your muscles in your mouth move, how well your voice works, how well you have good breath support to get your voice going. So I’m going to be asking you to do just a lot of different kinds of things.
I wanna hear sort of like a sigh, starting high and then coming down, like this: Ahhh…
Alex Bode (shorter sound): Ahhh….
Dr. Purdy: Okay, do it again.
Alex Bode: Ahhh…
Dr. Purdy: OK, try down and going up: Ahhh?
Alex Bode: I don’t know if I can do that.
Dr. Purdy: Just give it a shot.
Alex Bode: Ahhh?
Dr. Purdy: “Cuz what I’m--what this does--and you’re not trying out for the opera or anything, so---don’t worry about it. What, again, I’m looking at--the ability of the vocal folds to move…
Mary Caruso: When progression happens it’s---it’s an adjustment, and you kind of learn to take a breath, acclimate yourself to the new place you are.
It’s almost like torture, watching the progressions, and as a parent saying “I can’t stop it, there’s nothing I can do to stop it!”
Alex Bode (reading): I have some friends that are up there now, and they like it pretty well.
Dr. Purdy: Good. I understood all of that. You took a breath fairly early on in the sentence, which was good, and then you finished the rest out in one, and I could tell that you were running out of breath. So instead of trying to push yourself through it, you’re better off stopping, slowing down a little bit, taking that extra breath…
Mary Caruso: I believe that I have to be strong for them. If I don’t advocate for them, and if I don’t really research different avenues for them, I don’t know how--how things would play out for them, and hopefully by seeing the advocacy that I carry on—it’ll help them to be the same way for themselves.
Mary Caruso (to Dr. Purdy): She gives great presentations—she’s a really good student, and I hate to see her not doing as well as she could simply because she’s frustrated over her speech.
Alex Bode: My mom—she’s always there for us and she helps us—sometimes I don’t—even though I need more things—I don’t ask her for what I need—so I find a lot of my strength in her…
Mary Caruso: My greatest hope is a treatment—I mean, that’s why I work so very hard. And I don’t mean I expect my girls to take a pill and—jump out of their wheelchairs, and you know….but I—I think a treatment would give them a chance—at, you know, living. Too many young kids are dying with this—Way too many! And it’s—that’s, you know, that’s the risk every day.
Mary-Lisa Orth: I would define my life in three major parts…
….before diagnosis, after diagnosis, and after Benj’s death. When the twins were first diagnosed, they were sixteen. Until that time, basically, they had been perfectly ordinary sixteen-year-old boys--a little bit clumsy, but you know, they were growing six inches a week--I didn’t think anything of it…
Their progression was actually very, very fast. Normally it’s ten years from diagnosis to wheelchair. My boys were in wheelchairs in less than two years.
Benjamin had severe scoliosis--his back curvature was 54 degrees—and Alex’s curve was only 28 degrees. Benj decided himself that--that he wanted to have the—the spinal fusion surgery. He was 20.
With the heart problems that come with Friedreich’s ataxia, you have to be very, very careful when doing any sort of medical procedure. Benj came through the surgery wonderfully. He was doing really well for three days. But he had—um--been given too many fluids, and his heart wasn’t able to handle those fluids, and he went into atrial fibrillation, multi-organ shutdown…
And then he died and—I honestly can’t understand why the world can even go on without him. All time should stop—my son is dead—That’s it.
Alex Orth: Here’s the first one I got.
Interviewer: What does that one mean?
Alex Orth: Um--well, it’s kind of---it’s pretty private—but part of it is--about my brother.
Mary-Lisa Orth: It took Alex probably 18 months before he was ready to go back to school again. He was in college.
Alex Orth: This is a turtle--I think of it as my spirit animal, since—like--uh--longevity and endurance. Supposedly that means old man. That means—uh--it’s kind of like a promise to myself--to be an old man…
I really think I see the world in a different way. And I think my photography is—like--trying to show what I see.
Mary-Lisa Orth: I--I found a silver lining in his death—I have enabled his organs to be used for research. Two papers have been written because of his organs. Several other parents have now donated their children’s organs for research—and without that, we would not be able to find a cure….
With luck, Alex will be alive long enough to benefit from both a treatment and a cure.
Dr. Winnie King: Well, Mary-Lisa’s wish may be more than just a dream. Largely through the fund-raising work of the FA Parents’ Group, researchers have found the gene that causes FA, making diagnosis easier, and making a cure more promising. The result? Well, while many of the older children have suffered the most devastating effects of FA, the parents of the youngest kids have hope that their children will be spared that pain.
Donovan Simpson’s symptoms began the same way as Mary-Lisa’s boys and the Bode sisters—by now you’ll recognize the symptoms. But Donovan’s symptoms haven’t progressed as far, and his parents see real signs of hope for his future.
Yonkers, New York
Debra Simpson: Oh, my gosh, you have a 12 here, this is exciting!
Norman Simpson: Yellow!
Donovan Simpson: Dang!
Debra Simpson: Donovan always has been a very clumsy child. The sitters would always say, “Your child’s falling a lot, we wonder about this.”
Debra Simpson, Donovan’s mother
The very first day when the doctor said what it was, he–um--I remember vividly—and I’m gonna get really emotional now, because it was a very emotional time—um - sorry, I have to stop for a second - I remember vividly, seeing Norman and him telling me about how devastating it was.
But the good news is, now that we’re—um--going through it, and we have a lot of great hope that there’ll be a cure, and we do a lot of fundraisers to help fund it, and we have a lot of great organizations that help us…
Crowd cheering: Coming in, yeah, coming in….
Debra Simpson (cheering): Come on, Donovan!
Norman Simpson: Come on, D.!
Norman Simpson, Donovan’s father
Norman Simpson: Our--kind of--outlook on life of enjoying life, and what we want to get out of it for Donovan…You know, originally if--you know--he wasn’t going to live past his teens, we had a pretty small window of opportunity in what we were gonna do. We don’t think that’s the case any more.
Donovan: Right now, I’m in the field. I’m at first—I’m playing at first base.
Debra Simpson: We live every day to its fullest, and we pack as much–as many fun, wonderful things to do in one day as we can.
Interviewer: Who’s this here with you?
Donovan: That’s…this is my buddy.
(to buddy): Turn around…Watch this….
Coach: Close—he’s SAFE!
Coach: Good try!
Norman Simpson: It turns out that when Donovan was born, ten years ago, they had just cloned the gene. Right now we have clinical trials going on that have potential for treatments…
(to Donovan) Can I launch you?
Debra Simpson: What we’re hoping, and what we currently see, is that his progression is on the mild side. He doesn’t have – um - cardiomyopathy. He has very mild curvature of the spine. And he – um - his gait’s unsteady, but he can ambulate and walk throughout the house…Donovan actually fell, and he broke his arm, and he’s been in a cast ever since. So with the Friedreich’s ataxia, his ability to balance was taken away. So to help him be more independent, we got him a wheelchair and other devices.
Donovan: My favorite thing to do is play in my pool—like--dive under, and I love to lay with my dog.
Norman Simpson: Shadow is extremely empathic. She knows when he’s upset, she will go to him, and she will basically pull out the anger out of him.
Part of what--what we’ve conveyed to him as he’s growing up, is the fact that you look at these superheroes out there in the world—that you go see Spiderman, or you go see Superman, and you see a conflict--you know, the conflict that’s going on with them is, they have a special power that they don’t want. Just like Donovan—he has Friedreich’s ataxia—he doesn’t want it, but that’s who he is.
Six, seven months into it, it became pretty important for me to be able to talk to people.
And the Friedreich’s ataxia website, which is the Parents’ Group, became a mechanism for me to vent frustration, to ask stupid questions, you know, like, “Should he play baseball? What if he gets hurt?”
Mary-Lisa was part of the internet—um--the group, and she had two twin boys. I think Benj was the first person that I knew that had passed away from Friedreich’s ataxia--and so that became a very important person to me.
She had posted on the website—that she was looking for a home for the service dog that Benj had had and Alex had. We didn’t realize we weren’t just getting a dog, we actually got another family attached to us, and we became good friends, and it gave us a sense of “We’re not alone.”
Debra Simpson: Recently we got invited to an event with Sam and Alex Bode to help raise funding for the clinical trials. They became fast friends.
Norman Simpson: With Donovan’s illness, I—we’d--give anything to get rid of it, but I’ll tell you right now…It’s made us better people for having it. An ability to work with other people and share with what’s going on and not be so selfish ourselves.
Debra Simpson: I often have people say, “Oh, I couldn’t do what you do…” And I just say, “Well, everybody has issues that they deal with every day. Everybody has something—and you get whatever you’re dealt with, you deal with it…Each day…You take one day at a time.”
Dr. Winnie King: That’s probably a good philosophy for all of us.
If you’d like to find out more about Friedreich’s ataxia and the groups that are working to cure it, or if you’d like to connect with their support groups, you can go to the website of the Friedreich’s Ataxia Research Alliance at www.curefa.org , and their phone number is 703-426-1576 .
You can also check out the National Institutes of Health website at nih.gov . Type in the word “Friedreich’s” in the search bar. That’s spelled
Well, that’s all for today. Thanks so much to the wonderful families who shared their lives with us today. And thanks to you for watching. I’m Dr. Winnie King, and we’ll see you next time on Keeping Kids Healthy.
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Currently, BabelFAmily is financing two promising research projects aimed at finding a cure for Friedreich's Ataxia. Whenever you make a donation to us or purchase a copy of "The legacy of Marie Schlau", this is where all funds raised will be devoted to:
1) Gene Therapy for Friedreich's Ataxia research project:
The project is the result of an initiative of Spanish people affected by this rare disease who are grouped in GENEFA in collaboration with the Spanish Federation of Ataxias and the BabelFAmily. The Friedreich’s Ataxia Research Alliance (FARA), one of the main patients’ associations in the United States now joins the endeavour.
2) Frataxin delivery research project:
The associations of patients and families Babel Family and the Asociación Granadina de la Ataxia de Friedreich (ASOGAF) channel 80,000 euros of their donations (50% from each organisation) into a new 18-month project at the Institute for Research in Biomedicine (IRB Barcelona). The project specifically aims to complete a step necessary in order to move towards a future frataxin replacement therapy for the brain, where the reduction of this protein causes the most damage in patients with Friedreich’s Ataxia.
The study is headed by Ernest Giralt, head of the Peptides and Proteins Lab, who has many years of experience and is a recognised expert in peptide chemistry and new systems of through which to delivery drugs to the brain, such as peptide shuttles—molecules that have the capacity to carry the drug across the barrier that surrounds and protects the brain. Since the lab started its relation with these patients’ associations in 2013*, it has been developing another two projects into Friedrich’s Ataxia.