CHARGE syndrome

Transcription

NARRATOR: A word is carved in stone: "Perkins." Below a gothic tower, a boy navigates with a cane. A title: "Perkins Presents: An Overview of CHARGE Syndrome with Pam Ryan." RYAN: CHARGE syndrome is a genetic disorder, and it's characterized by sensory, physical, medical, developmental problems. NARRATOR: In animation, red letters form the word "CHARGE." RYAN: The letters stand for... "C" stands for coloboma, which is an eye condition. "H" stands for heart. "A" stands for atresia choanae, which is a problem behind the nose. "R" is retardation of growth and/or development. "G" is Gastrointestinal/genital/ urinary problems, and "E" stands for ears. The name itself is an acronym. CHARGE is an acronym for a variety of conditions, but it's not necessarily the diagnostic feature anymore. We keep it because it's easy to remember for people, but the diagnostic criteria really boils down to four "C's"-- either the four major characteristics, or three major and three minor. NARRATOR: A lengthy document lists CHARGE syndrome features, involving vision, sense of smell, swallowing, ear formation, and more. RYAN: Every single condition related to CHARGE syndrome has a wide spectrum-- from very mild to very profound. The "C's" sort of define what's going on. It's the coloboma, which would lead to vision issues-- from mild to profound. And a coloboma is an incomplete formation of different parts of the eye. NARRATOR: In photos, two toddlers appear to have misshapen pupils. RYAN: It's a cleft or a hole, and depending on where that cleft or hole is, will determine vision conditions. NARRATOR: Two photos compare a healthy human retina to one with a coloboma. RYAN: If you have a cleft in your iris, your vision acuity can still be very good. But if it's further back in the eye structure, it can be more compromised. So people could have very mild vision loss or be totally blind, depending on where that cleft is. The next "C" that would determine... that would give you a physical characteristic related to CHARGE is the choanal atresia, or stenosis, and it's the bony growth behind the nose which can impact breathing. NARRATOR: In an illustration of a face in profile, a bony obstruction appears near the nose. RYAN: Often, the babies have a lot of trouble eating and breathing at the same time. NARRATOR: A photo shows an infant with a breathing tube. RYAN: Regular babies-- typical babies-- have trouble when they have a cold. They can't be having a bottle at the same time, because they can't do both. These kids, it's a chronic condition, and the atresia, which is a blockage, and stenosis, which is narrowing, often need surgical intervention when the kids are very young to open those passages so they can breathe. The next "C" is cranial nerve abnormalities. And there are several cranial nerves that are involved in these kids, which can cause a facial palsy, which can also interfere with breathing and swallowing as well as some other nerves. NARRATOR: In photos, children smile with lopsided grins; several peer through eyeglasses. In a field, a boy wears a brimmed bucket-hat on his tilted head. RYAN: The tilt of the head, hearing loss, vision, sense of smell... which can impact as kids get older-- a sense of smell can impact, because if you can't sort of smell your own body odor when you're a teenager, you could be ostracized, and that's not a nice thing. It affects, also, the entire swallowing mechanisms, so many kids really are dependant on G-tubes because they can't swallow food. NARRATOR: A thin tube leads directly into a child's stomach under his shirt. A newborn baby lies in bed with sensors on his bare chest and tubes in his stomach and nose. RYAN: The fourth "C", which is the characteristic CHARGE ear... NARRATOR: In photos of ears, one lacks a lobe; another has a split outer rim. RYAN: ...the ears are very unusual looking, and for boys particularly, it can be a little more problematic, because they don't have hair to cover their ears. And the ears can be very malformed, or maybe one is malformed and one is not. NARRATOR: A boy smiles, his ears protruding below the bottom of his baseball cap. Wearing a hearing-aid, another boy concentrates on slicing a strawberry. RYAN: Usually, this part of the ear-- this part that we can see-- is very weak, so even their hearing aids will not stay on, which can be a problem if hearing is something that they can use. And then, internally, it also signals a problem. NARRATOR: On a running-track striped with white lines, a woman stands with her arms stretched out. Several youngsters mimic her stance. In another picture, a mom holds her son as he picks a fruit from a tree. RYAN: These kids have pretty specific balance issues that can be overcome, but when they're very young can be very traumatic, because they're fearful if they're not seeing well, and they can't hear well, and they can't stand up without falling over, then movement has very little motivation for them. NARRATOR: On a SURFING simulator, a boy stands sideways on a mounted surfboard. Fade to black. A title: "Early Challenges of CHARGE." RYAN: If you go right back to that birth process, there's a whole lot of medical stuff that has to be dealt with immediately, and that is life and death. And so initially, as parents, you're faced with, "Is my child going to live?" If that child is born with a cleft lip or palate, that's going to take time. You've got to repair that. NARRATOR: A baby lies asleep in bed. A close view reveals a puffy, wide nose and a malformed upper lip. RYAN: If the child has the blockage and they're not breathing; if the child has a heart condition and they're not able to illicit that first cry or they're very weak and they're maybe small babies, despite maybe being a normal-sized pregnancy. There's all those medical things that have to be faced first. And, "Is my child going to live?" And then, over time and over many, many, many surgeries for a lot of these kids, life takes on a rhythm, but the kids may go home with oxygen, with a trach, with a G-tube, and so then there's home care that has a huge impact. NARRATOR: In photos, a boy wears a red plastic fireman's hat; and a girl giggles, with leads from a thin tube extending into her nostrils. In a field, a boy dressed in a Red Sox baseball shirt tilts his head; and a child plays on a carpeted stairway, lying upside-down. RYAN: Okay, so maybe we move, then, to three years old, and the trach has come out. G-tube might still be in place. Kids pulling up, and parents start to see that maybe it's going to be okay. "Maybe my child is going to walk. "Maybe he's going to sit up by himself. He's starting to look around." NARRATOR: A rosy-cheeked toddler gazes up at an adult. A boy wearing headphones sits in an easy-chair, his bandaged arm resting on a pillow. He gives a thumb's-up. RYAN: So I think those increments can be small, but once all the medical things are taken care of, then there's some light at the end of the tunnel, and they start thinking, "Hmm, maybe school is in the cards for my child." NARRATOR: Fade to black. A title: "Perkins School for the Blind: Educational Outlook with CHARGE." RYAN: There's a huge percentage of children who are functioning at their grade level, and then there's many who aren't. Again, it's a wide spectrum of functioning abilities. From normal-- some... there are some gifted children with CHARGE-- to very profoundly intellectually impaired children, which will certainly determine the course of their development and their placement in school. NARRATOR: In photos, a boy gazes through a window. In a grassy yard, a teacher holds a book open for a student. His brimmed cap shades his eyes from the sun. In a classroom, several boys draw pictures. One uses a slanted work-surface, with a metal clip that holds his paper in place. Another boy leans over his drawing, which lies flat on a desk. RYAN: There are children who, given vision, hearing, everything else, once they get going, can do very well in school-- learn to read, learn to write, do math, do all the things that you would expect in school. And then there are those children that have great difficulty learning, and their programs, while they may be working on some academic task-- things that we think of as counting, telling time, learning about life-- but may become more functional in nature, but that's related to their life, their schedule. TEACHER: Which job are you going to do? NARRATOR: In a kitchen, a boy checks a picture display, then signs to his teacher. RYAN: There are students who maybe are using sign language and not speech, and might need back up from pictures, and if your vision is compromised, making sure that those pictures are big enough and that your sign language is close enough, or if you need even more, that somebody can sign in your hands to make sure everything is very clear for you. In a classroom, that can be very difficult for a teacher. NARRATOR: In the kitchen, a teacher signs to a student. He checks the picture display on the refrigerator, then sets a saucepan on a stovetop. Another boy cuts a loaf of bread with a knife. RYAN: Having support through the educational team, having somebody on that educational team-- a consultant who understands what CHARGE is and what the ramifications are on an educational program-- becomes the link in the chain so that that person can talk about communication needs; the person can talk about classroom access and how that can best be achieved with a student. NARRATOR: Fade to black. A logo: Perkins School: All We See is Possibility. A title: "CHARGE and Emotional Issues." RYAN: They may not have different emotional issues, but they may manifest differently. NARRATOR: In a photo, a boy sits on a grassy yard on a school campus. His teacher points to a page in an open book. RYAN: If the kids-- and most of the kids, as they certainly mature-- start to show signs of what would be considered obsessive-compulsive disorder, anxiety disorder, so they're a little more nervous. They're a little more anxious. NARRATOR: In the kitchen, a boy uses his finger to trace a rectangle in the air over a countertop, then sets down a cutting board. RYAN: If they've got obsessive-compulsive disorder, one sort of can lead to the next, and everything's not in place, and if everything's in place, then my anxiety level is down. I can move forward with the classroom. But if something's askew, it's off. So their behavior manifests differently. It can manifest as obsessive-compulsive disorder. It can manifest as anxiety. It can manifest as just striking out. NARRATOR: In a photo, four smiling young people stand side-by-side in playful poses. One holds his fingers in a "V" behind another's head. A girl wears a hat made of twisted balloons and a t-shirt imprinted with the word "Angel." RYAN: I think, for the kids certainly who are higher functioning in terms of their cognition, their emotional life might be a little more complicated, because they're looking... they're seeing other kids making fun of, perhaps, their face which may be more unusual looking, or commenting on their ears which may be malformed. Maybe the boys, especially, could be being picked on in gym class, because they're smaller, and not, you know, they're not the kids that are going out for the football team. They usually don't have the height, nor do they have, often, they strength or the physical stamina for those kinds of sports. So those are the kids that are being excluded on that end, as well. And I think it's very hard, often, in public school for kids to make friends. NARRATOR: Fade to black. A title appears: "Resources for CHARGE Syndrome." RYAN: The CHARGE website-- the family website-- is remarkable for those kinds of issues. Parents find the website, and they say, "Thank God; there's another parent here." And then they find out there's, you know, 700 parents. NARRATOR: A website address: CHARGEsyndrome.org. The website offers history, resources, memberships, and contacts. RYAN: There are lots of pieces of information on the website, and one of them is a packet that many people here were just involved with, called, "Welcoming Your CHARGE Child to a Public School Classroom," and there's lots of information about vision, hearing, behavior, structure, and how those things can help make a program work well for a student. There's a CHARGE listserv, and it's mostly mothers. But it's huge. It's an international listserv, and the things that they talk about there are the very small successes that they never thought they would see, so they are great encouragement to each other. NARRATOR: A smiling woman cradles an infant in her arms. RYAN: As a non-parent on that list, it helps me enormously when I meet a new parent, to be able to say, "You know, if you "go to that listserv, those other mothers are going to know exactly what you're talking about." This is what I've learned from them, so I can share that information with them, you know, "It's going to be okay." NARRATOR: A woman and a girl lean their heads together as they pose for a picture. Fade to black. A title: "Long Term Outlook for CHARGE Syndrome." RYAN: Given all the right set of circumstances-- the right supports, the medical health is... their medical care is dealt with and they've got people right behind them, there is great optimism that is possible. The kids are doing well. We have kids, they came to us-- and not just us, but around the world-- who were barely able to walk, and now they're on scooters and roller skates. These are kids that nobody ever thought were going to stand up because their balance was so poor. NARRATOR: In photos, a boy wearing a red fireman's hat grins. In a swimming pool, a boy floats with inflated water-wings wrapped around his arms. A girl wearing a fireman's hat squirts water from a hose. A toddler crawls in a round plastic pool filled with colorful balls. RYAN: If children get through those very early medical times, those trying times for parents when they're in the hospital for a long time... NARRATOR: A woman and a girl both hold up two fingers, making "V" symbols. RYAN: ...the kids can do really well, and once they've gotten beyond that and their health conditions are resolved, repaired, they're beyond them, there is no specific set life expectancy. There are people in their 50s, there are people in their 40s, there are young people off to college. NARRATOR: A photo of a half-dozen adults fades into a photo of youngsters, who lean on each other as they pose. One gives a thumbs-up. RYAN: One young man still has G-tube. He's one of the guys who's done really, really well. He's 24, and he got a full scholarship to a university in California. So the possibilities for some of these kids are just endless. NARRATOR: In the kitchen, a boy shakes hands with his teacher, then makes an "Okay" gesture to us. Fade to black.