Michelle was diagnosed with Angelman Syndrome before the age of four. Dr. Harry Angelman first described Angelman Syndrome in 1965 when he recognized three different children with similar characteristics admitted into the hospital where he worked in England. Angelman Syndrome, once considered rare, is a random genetic condition believed to effect approximately 1 in 30,000 individuals. It is a global disability, which curtails both ongoing mental and physical development.

The years that follow her birth become blurred to me. Auto pilot miles to countless doctors, now nameless except on the accumulated paper trail. Bi-weekly trips to therapists, many faceless. Years working with special teachers who attempted to keep our spirits alive. Seizures, procedures, heartache, and tears. Eventually we realized there was no magic fix to ensure first words, kindergarten homework, or pee wee soft ball games. No best friends for Michelle to share a weekend sleepover or gossip about the boys with. No first kiss. No telephone chats with friends detailing who will go to the prom. Only Mom.

Twenty-one years later this "normal" child is now a young woman, her physical appearance perfect while sleeping. During waking hours, her muscles involuntarily contract and drool escapes the corners of her lips. She has plateaued in her mental abilities and will forever remain at the level of a twelve to fifteen month old child. Every day is a struggle to achieve even the basics of a developing toddler’s first attempts toward exploring the world around them. Unsteady first steps, although improved over time, mimic the gait of a stringed marionette. Mouthing any object to see how it tastes, is still a favorite pastime. Forever she will be totally dependent upon helpers for her continued health and safety.

I am Michelle’s mother, provider, guardian and friend, writing these pages in an attempt to provide a generalized Helper’s guide to ensure Michelle’s continued well-keeping. Please read with an open heart because, after all you will be caring for an angel.

Our angel, Michelle, forever a toddler in her mind, requires help to rise and shine most mornings. A helper stretches and massages her leg muscles early. She needs to stretch before sitting up in bed, then with help balances on the edge of the mattress for a few seconds, tiptoes barely teasing the carpet. Eventually she braves into flat feet mode on the floor before standing. Michelle slowly stands with a helper’s support to cradle her elbow with one hand while the other hand grips onto the back of her pajamas for extra security. If Michelle proves too unstable, a blue transfer belt buckled around her waist adds protection.

Michelle’s legs are often shaky, limber as a noodle, and it is possible for her to fall at any moment. At times her legs are stiff as wood, and the rest of her body trembles or jerks making her stagger from side to side, as she, with helper attached, maneuvers down the hallway. She walks with jerky movements because her coordination rarely works when she first gets out of bed. The helper holds on securely and moves very slowly toward the bathroom. Michelle’s neurological malfunction distorts brainwaves and the communication between her brain and the muscles in her body is often ineffective.

There are times Michelle does not sleep any during the night. At these times, she is giggling and wired before her day begins. Some nights, she merely naps in irregular slots of time or she will sleep hard for only an hour then wake wide eyed with giggles and high pitched squeals in a demand for immediate attention. Some nights she growls or screams mad at the world, and it is only because the moon is full. She is distracted easily, and if the dog is barking outside, she is awake joining in vocal harmony.

For safety, I always check on her at different intervals throughout the night. Perhaps she is having a seizure or an uncomfortable bowel malfunction. Maybe she fell out of bed or became twisted up in her covers. There are always potentially dangerous situations, which seem to present themselves during the silence of the night. Michelle will never verbally express even the fear brought alive through a nightmare. A helper always expects the unexpected and is available to offer comfort and reassurance at any hour of the night.

Some nights Michelle is asleep before her head hits the pillow, snoring loudly all night long. She chokes on saliva or sucks in too much air, which wakes her with a startle and a terrified gasp. At times, I find her still lying in the same fetal-like position eight hours after she went to bed, not moving one muscle all through the night. It is nearly impossible to wake her. Michelle slumps her feed-sack body into me and keeps her blue eyes shut through the entire process of sitting up and standing. Her body stiffens from being in the same tight position throughout the night and she performs her weeble-wobble shuffle down the hallway toward the bathroom with me supporting most of this angel’s 130 pounds of womanly body weight. A stumble forward or collapse backward is always anticipated.

At times, Michelle’s system is compromised because of an oncoming illness or her monthly menstruation and she experiences tremors, which affect her entire muscular system. A mild fever, daily stress, or unknown environmental factors trigger these automatic responses of her body. Her trunk and upper torso react as if disconnected in the middle, and she falls without warning either sideways, forward or backward. A helper remains aware at all times as our angel continues her attempts toward forward movement, even if some of her joints lock-up and choose not to cooperate.

During the bathroom ritual, Michelle stands straight and gazes out the window. She holds onto the ledge as her helper proceeds to free her body from its pajamas. The helper’s one hand balances Michelle to prevent falling, while the helper’s other hand removes her clothing. Michelle’s pajamas are a special customized design, a one-piece unit I make from a pair of comfortable sweats, size large, sewn together at the waist. I sew tube socks onto each sweat pant leg, which keeps her feet protected and warm throughout the night because she rarely keeps her covers on. A long hobby zipper is placed down the back of the long sleeved sweat shirt and this prevents her strong fingers from digging into her diaper during the night or her always too sharp fingernails from scratching her body raw. These sleepers do survive a million and one washes.

Michelle sits on the toilet as the helper gently holds her delicate hands together in her lap. If Michelle is awake, she giggles profusely, which signifies protest because she is sitting on the toilet. In another extreme, she may appear zombied and her head bobs oblivious to her surroundings. The helper’s goal is to get Michelle to concentrate on the business at the toilet and hopefully she will empty her bladder sufficiently. It is extremely important to encourage Michelle to go to the bathroom, since our angel is prone to urinary tract infections if the bladder is not emptied well and often. It is important for the helper to have patience, and allow Michelle to urinate while at the toilet. This prevents any unnecessary skin irritation, which might result from wearing a wet diaper. It is also extremely important to clean Michelle properly after going to the bathroom to minimize the potential for bacterial growth. Our angel does not have the coordination or the understanding to perform this task safely or correctly on her own without a helper.

During Michelle’s tremor activity, she does not concentrate on her task. Her hands and entire body jerk in pulsating spasms. Noise is a distraction while taking Michelle to the bathroom. Loud music or constant chatter in a crowded public bathroom turns toilet time into stress time. I talk softly to Michelle with short encouraging phrases, make pucker faces, or even grunting sounds, to offer this angel a cue. At times, I pour a cup of warm water slowly into the toilet between her thighs, which gives Michelle the physical stimulation and an audible running water sound she may require to urinate. The helper exercises patience, and allows Michelle the sufficient time needed in order to celebrate success during the ongoing toilet bowl challenge.

I rarely catch Michelle in a bowel movement while sitting on the toilet. Usually bowel movements occur in the middle of the night following a soaking bath. Often she becomes extremely quiet and goes into her room. Clues of an impending bowel movement include grunting sounds and straining noises. Her nose may turn Rudolph red. A helper should escort her quickly to a bathroom, and if a bathroom is not available, keep Michelle comfortable, lying on her side, if possible. Michelle is cleaned immediately following a bowel movement and this task is best accomplished while she stands supporting herself with a bar or windowsill. I place hand lotion onto a wiping cloth to assist in removing excess excrement. This keeps her bottom soft and the lotion smells nice. A helper stays prepared with necessary supplies, which include a full change of clothes, diapers, fresh wipes, rubber gloves, and plastic sacks for soiled clothing and proper disposal of any diaper.

Michelle is semi-successful with a toilet routine of three and a half to four hours between each toilet trip; morning, before lunch, middle of the afternoon, before dinner, and then bedtime. Michelle often stays dry through the night. If Michelle is wet in the morning, I still encourage her to empty the bladder while sitting on the toilet. During the night, if she wakes antsy, I take her to the bathroom.

Bath time requires extra concentration and coordination from both the helper and our angel. I allow a full hour for a leisure bath time. Michelle loves the water in any form, and once she realizes it is time for a water experience, she contracts her entire body in eager anticipation. Michelle has no fear of the water, no concept of deep or shallow, and on occasion, she does rather unsuccessfully attempt the mermaid role of breathing under water. These factors make it difficult to handle her safely in any water environment. Preferably, two helpers need to be present during bath time, which can take place early morning before breakfast or prior to bedtime. Either time proves to be relaxing for our angel. One helper walks her from the toilet seat to the edge of the bathtub while holding her securely, with another helper present on the opposite side for balance. With verbal and physical prompts, Michelle will lift her left leg into the tub and the helper directs her left hand toward the bathtub bar so Michelle assists in the balancing process. One helper encourages Michelle to lift the right leg into the tub while both helpers have a secure hold on her to prevent any slipping. One slight pivot and her bottom is eased onto the specialized bath chair.

The helper stays aware that our angel will wiggle, slip out of the chair, pull down the curtain, grab the helper’s hair, or take any measure to become part of the water. The excitement of the water animates her over-reaching octopus like arms, moving, pulling, grabbing and pushing in every direction.

Michelle ducks her head tightly into her chest, which makes lathering her hair difficult. I use a medicated dandruff shampoo, which successfully treats her chronic cradle cap. Cradle cap is a scaly skin condition, usually noticed on infants during the first few months after birth, and it’s caused when skin cells multiply too rapidly to flake off on their own. They build up into flaky layers of dried skin on scalp and eyebrows. A helper lathers Michelle’s hair paying special attention to avoid getting soap in her eyes, then rinses her hair quickly using a shower nozzle extension and low water pressure. The helper dabs Michelle’s face and eyes with a dry wash cloth to ensure no soap remains to irritate her eyes and then rubs the dry cloth through her hair to sop up excess water.

I use a mild baby wash to wash Michelle’s sensitive skin. A helper lathers the baby wash onto a wet cloth and washes her body thoroughly from the neck down, paying special attention to underarms, under-boobs and womanly crevices, then rinses all the soap off with the flexible shower nozzle.

At times our angel deserves a soaking bath. A soaking bath is important in her personal plan, as this provides a luxurious total relaxation time. She submerges herself in the water, and the warm bath has a long lasting, calming effect. A bowel movement usually results during the evening following the soaking bath, but rarely in the bath water. Michelle looks forward to and prefers the soaking bath, but it is more challenging for the helper than a shower with the shower chair. The helper remains very close at all times. Our angel loves to experience her body’s freedom in the water and she churns around as much as a tub size will allow. Onto her stomach she plops and floats with her baby soft bottom bobbing up and down in the water. She blows bubbles and makes motor boat sounds with her lips tightly pressed to the side of the tub while the rest of her twisting body sloshes to create tidal waves. The helper gets drenched in the process.

Michelle sits up to splash and squints her eyes tight in anticipation of any sudden water blast into her face. She pours water from a plastic bucket or watches mesmerized as a waterfall streams from a soaked wash cloth onto her tummy. An innocent angel, her time stands still, oblivious to the cooling water temperature or the pruning effect of the water to her feet and hands.

It takes two helpers to get her out of the tub safely, and it’s best to begin draining the water before removing her from the tub. Michelle’s back is placed to the inside of the tub while still in the water. One helper is on the left side and one helper is on the right side. Both helpers grab under an arm and lift her body through the air placing her bottom on the awaiting tub chair. A body towel is draped across her back to minimize the sudden chill.

Michelle is never ready to get out of the tub and will use all of her physical strength and abilities to dive back toward the water. Remember, for safety reasons the bath water needs to be mostly empty before trying to remove her from the tub. Once the shower or soaking bath is over everything is slick, so the helper needs to take extra care while Michelle exits the tub. A helper swivels our angel’s legs to the outside of the chair, standing her slowly. Michelle is sometimes encouraged to crawl out of the tub onto an awaiting beach towel. The helper remains close, supplying verbal and physical assistance. She usually ends up giggling on all fours, and requires a helper to assist while she stands. Occasionally Michelle’s long legs and squished boobs get stuck on the way over the edge.

A helper pivot’s Michelle’s body toward the towel covered toilet seat to sit down. It is important to dry her body off quickly so she will not chill. I find using five towels works best; one on the floor as a mat, one on the toilet lid, one thin towel for drying her hair, a body towel to wrap around her shoulders and a towel to pat her legs and feet dry.

A short time table often dictates a sponge bath to freshen Michelle instead of the full bath and takes considerably less time than the hour allotted for a soaking bath or shower. Sitting Michelle on the towel covered toilet seat, is the easiest way. I use a large bowl of warm water with baby wash soap and a soft cloth. I wash her face and work down toward her toes making sure she remains draped with a towel across her body to prevent chills.

Shaving legs and underarms is not a necessity, but it allows Michelle to stay fresher, and makes summer clothing, such as shorts and sleeveless shirts, more aesthetic. The helper places Michelle on the toilet to shave her legs and underarms, following her bath. This method has proven most effective because less strain is placed on the helper’s back. Instead of using soap, which may dry her skin, hair conditioner works quite well. I sit on the floor in front of Michelle and smooth a small amount of conditioner onto Michelle’s legs. In even, delicate strokes, I shave upward from the floor toward her knees. The soft hair is removed easily, and Michelle tolerates this activity without becoming hyperactive.

Under the arms, I spread a small amount of conditioner and with physical prompts, Michelle raises her arm to allow the shaving. After the shaving is completed, a warm damp cloth wipes away any excess conditioner and Michelle’s skin is silky soft for several days. Conditioner also is quite fragrant and never develops a sour smell throughout the day.

Toenails and fingernails are clipped following Michelle’s bath while she is still sitting on the toilet seat. A towel is placed on the floor to catch the clippings. I sit on the floor with a pair of blunt nosed cuticle scissors and gently trim Michelle’s toenails assuring they are even, smooth and not too short or jagged. If the toenails grow too long, this causes Michelle discomfort while wearing shoes. I trim Michelle’s fingernails following a meal while she is sitting in her feeding chair. By trimming Michelle’s fingernails in the feeding chair, it allows me global access to the target nails. This task is quite challenging, as Michelle moves her digits unpredictably into harms way. I always take extra care when trimming both toenails and fingernails, so not to nip the skin in the process.

After the bath is finished, and before Michelle is dressed for success, it is important the helper dries her thoroughly. Our angel requires total assistance in drying and dressing. The safest procedure is to allow her to remain sitting on the towel covered toilet seat, and the helper is patient to dress her slowly. Verbal and physical prompts allow Michelle to assist in dressing. A helper starts with verbal cues, directs her to lift one leg at a time into a pair of pants, duck her head toward the neck hole in a shirt, or offer her arm into the sleeve of a blouse.

Michelle is incontinent and requires disposable diapers for protection. Undergarments with belts are worn during the day and medium, fitted briefs are worn during the night with three diaper pad inserts stacked pyramid shape to proved added absorbency. It is important for Michelle to wear cotton briefs, size seven, no bikini cut. A helper aligns the underwear smoothly over the top of her disposable diaper, so they will not pinch any delicate areas.

Michelle needs to wear comfortable clothing, which bends with her and is not too tight, rigid or baggy. I buy blouses without buttons because she chews or pulls these off. Soft cotton tee shirts, which do not scoop too low or stretch too much, are best suited for her. Turtlenecks and mock turtlenecks wear well in the cooler months. Clothing must be free of tempting snaps or zippers in front, which her strong fingers can quickly manipulate. Elastic waist pants, size ten petite, or Capri pants prove most comfortable for her. Dresses or skirts are discouraged, as Michelle’s favorite unlady-like sitting positions are Indian style, W-sitting, or rocking on her coccyx with feet and knees waving above her head.

If it is tremor-time, more verbal prompts and patience are required from the helper while dressing Michelle. The helper physically guides her foot into the pant leg, her toe into the sock, directs her head through the neck hole or pulls her hand through the sleeve.

Appropriate sized shoes are required, seven, medium, or seven and one half, as Michelle rarely complains even if her toes become crunched inside her shoe. Shoes cannot have rough soles, which could snag on carpeting or slick bottoms that will slide across the floor. Shoes should offer ankle support since Michelle rocks her feet and her ankle tendons are weak. She walks with a top-heavy forward momentum, unaware that if her body leans too far in front of her feet, she will plunge forward nose first to the floor. This angel sways with a wide unsteady gait and is unable to re-center herself if she veers too much to one side. A helper must always remain close to straighten her up so she can torpedo her body full speed ahead.

Each Mealtime, breakfast, lunch, snacks or dinner, requires similar methods of preparation from the helper. Michelle is always seated in an upright position. At home, she uses a large blue feeding chair with a seatbelt, footstool and attached feeding tray. In a restaurant, a booth is preferred, but if seated in a regular chair at the table, a helper remains alert to the possibility that Michelle may tip the chair backward. Michelle grabs at people behind her, beside her, in front of her, and even attempts to grab people eating on the other side of a privacy partition. She may grab lit candles, the handsome waiter, or those tempting plastic floral decorations within her space. Michelle, with her boarding house reach, snatches food from any vulnerable plate. A helper must be certain that Michelle remains in an upright sitting position while eating and should always respond with physical assistance and encouraging verbal cues.

Food is prepared in appropriate bite sizes and textures. The helper makes certain Michelle has food that is not too hot, spicy, or too tough to chew. If eating out in a restaurant, a helper makes sure food served to Michelle is appropriate to meet her needs and presented to her in a safe, eatable manner. A helper checks for all potential choking hazards, such as any bones in fish, any seeds in fruit, or any overcooked meat that is too tough to chew. The helper positions the plate in front of Michelle on a rubber mat, which prevents the plate from sliding. A high-sided divider dish, which allows different foods to remain separated from one another, is preferred. The helper positions the plate in front of Michelle at an offset angle, with food positioned in an organized manner so she can find the food with her spoon. The main entrée is positioned closest to her and the fruit or dessert is placed in the opposite side of the divider. The helper occasionally needs to position the food itself onto Michelle’s spoon so she can effectively scoop it into her mouth. The helper adjusts Michelle’s spoon several times during a meal because she continues to scoop even if the spoon is upside down, sideways or empty.

The helper sits close during mealtime to ensure Michelle does not attempt to stuff a mountain-sized spoonful of food into her mouth. She may shovel in several bites of food without chewing what is already in her mouth. Because Michelle often panics during mealtime, or acts as if she is starving, the helper offers soft verbal cues reminding her to chew slowly, take her time, and enjoy her food.

The helper must actually feed Michelle when her tremors are so severe that she can not control the spoon or get food to her mouth without shaking it back into the plate. During tremor-times Michelle may clank her teeth down hard onto the spoon, so the helper must be aware of this and assist her when needed to prevent injury. She could damage her gums, teeth or even poke herself in the eye with her spoon, and for this reason, only a fat handled spoon is used, never a fork.

Michelle requires fluids not only at mealtime, but also throughout the day. A helper makes sure she gets enough to drink during the day, as she can dehydrate easily. Michelle has a constipation concern, so fluid intake is essential to maintain her heath. She may refuse to drink, and a helper must be persistent in encouraging her to take drinks often. She drinks fluids from a cup with a lid and a bending straw or from a bottle using a bending straw. The straw allows the helper to gauge exactly how much liquid Michelle is getting, and the helper must monitor Michelle closely so this angel will not choke. Michelle enjoys drinking water and several varieties of juices. Rarely do I offer her carbonated beverages or super-sugar drinks, as they are not conducive to good dental health.

Michelle takes medications for an ongoing seizure condition, which first became apparent on Monday, June 25, 1984, at the age of eighteen months. The first medication tried for seizure control was PhenobarbitalÒ on the following Thursday, June 28. This medication is still being utilized. Tremors are treated with KlonopinÒ . The Angelman Syndrome condition is unpredictable when it comes to how long the seizure activity will inflict someone’s life. Many individuals with Angelman Syndrome outgrow the occurrence of seizures in their late teenage years. Others continue to suffer from seizures their entire lifetime in a yo-yo bounce from severe and frequent seizures, to only mild breakthrough seizures which are well controlled through medication.

Attempts to discontinue Michelle’s seizure medications, even after years of being seizure-free, were disappointing. The seizures re-ignited during the medication weaning process. Attempts to change types of medications during her life have also been unsuccessful. As we introduced a new medication, and the old reliable PhenobarbitalÒ decreased, obvious seizure activity resumed. The PhenobarbitalÒ dosage was reintroduced and within a few days the negative activity subsided. According to blood work, the PhenobarbitalÒ dosage administered now should not be effective to curtail Michelle’s seizures, but it is. Increasing dosage levels to the advised "standard" for weight and height makes her lethargic and unable to concentrate. Unsuccessful medicines have been, TenexÒ , NeurontinÒ , and TegretolÒ .

A helper administers all of Michelle’s medications. She is not physically or mentally able to retrieve her own medicines from their containers or understand when or what dosage should be taken. Her medication is presented with a bite of food with meals. The helper must make certain that the medicine remains in her mouth until swallowed and is not lost in the plate of food or onto the floor. I give liquid medications in a dosage cup using a short straw for her to suck from or by filling an oral syringe with medicine and squirting it into the side cheek-pocket of her mouth.

Michelle requires total assistance while brushing her teeth but she offers total resistance. Brushing teeth is not her favorite activity, and the helper must be patient and allowing time for cooperation. Michelle helps by opening her mouth after verbal cues, and sometimes music or creative game playing by the helper encourages cooperation. This angel underwent several episodes of traumatic dental work, which required numerous hours of anesthesia. Her front top teeth have been capped, impacted wisdom teeth extracted and teeth and gums scaled and cleaned. Michelle requires anesthesia with any dental procedure, check-up, or cleaning process.

Many dental health issues are prevented with proper dental maintenance, and the helper must take the utmost care while brushing Michelle’s teeth to assure no further damage occurs to her gums. She ruminates her food at different intervals during the day and night, as well as at different stages of digestion. This activity is a self stimulation habit, and a condition developed from years of medication use. The acidity is quite damaging to the teeth and potential esophagus erosion is an ongoing medical concern.

Michelle clamps down hard on the toothbrush and the helper must not jerk the toothbrush out of her mouth. This action may chip her teeth or break the toothbrush head off in her mouth, creating a choking hazard. Both electric and conventional toothbrushes are used. The helper wipes the excess toothpaste from inside her mouth with a soft cloth. A perio-guard dental wash is used after brushing to maintain good dental health and the helper dabs the astringent around her teeth and gums using an oral sponge-swab. Michelle may swallow a small amount of this liquid as it trickles into her throat but it will not cause any negative health effects. Never offer this medication for Michelle to gargle directly from a cup. She does not understand the concept of swish and spit.

Michelle was nearly four years old before she was able to stand without the assistance of a standing frame. Walking proved to be an exceptional challenge and her first steps came by holding onto a helper’s hands as she staggered a few steps across a therapy room. Eventually she graduated to gripping an inanimate object instead of relying only on the helper. The first object was a small hula-hoop, which severed the human touch and brought about independence toward the art of walking on her own. In later years, she used specialized walkers. Even now, Michelle requires a great deal of concentration to organize her mind with her muscles for the walking experience.

Angelman Syndrome was originally called Happy Puppet Syndrome because the term describes the way in which a child with this disorder walks. Feet remain widely spaced as knees lock and arms wing outward, as elbows bend with fingers pointing toward the sky. Often back muscles overextend forcing the chest and stomach to protrude outward.

Michelle requires a helper to be present every moment while walking outside. This angel does not distinguish rocks, holes, or other obstacles in her path and will not maneuver the different lays of the land, uphill or downhill. Michelle can easily walk a few blocks outside, and the helper offers a drink after each walk. Michelle has no fear of traffic. She will walk unaccompanied into the street, trip over a crack in the sidewalk or fall without warning. Michelle cannot negotiate stairs alone and will step right over the edge, as her knees remain stiff and she plunges forward without fear. Years of practice have improved Michelle’s ability to walk up the stairs holding onto a rail, but stepping down the stairs continues to be a great challenge and will always require a helper’s hand.

Michelle is most successful at walking short distances. A trip to the mall, with a helper in tow, affords this angel a safe walking environment and the freedom to explore the world of shopping. A big mall is a challenge and the helper must stay aware of Michelle’s body language to gauge when her muscles become fatigued. Often her shoulders sag, her knees bend significantly, and her feet scoot across the floor. A helper should stop midway through the mall to rest and get something to drink. In crowded situations or longer walking excursions, Michelle’s wheelchair will be required. Michelle relaxes in her wheelchair and spends more energy concentrating on her surroundings, rather than on her walking. While touring a museum, aquarium or the zoo, it is good to combine walking with wheelchair access. The helper, as well as Michelle, will become less tired.

Walking is an important activity for Michelle. As she ages, her muscles and bones will become rigid, making the walk more difficult. Regular stretching sessions throughout the day to elongate the muscles in Michelle’s ankles, legs and feet will allow her to remain active and healthy longer. The less mobile this angel is now, the more likely she will be wheelchair bound in her maturing years.

Michelle relies on a helper for all transportation needs. She enjoys getting out for a car or truck ride, but the helper must assist Michelle while getting into or out of a vehicle. A helper allows Michelle time to decide how to proceed entering the vehicle, giving her verbal and physical prompts and asking her to lift her leg, duck her head, hold on to the bar and pull herself inside. Michelle assists in centering herself once she is seated inside the vehicle. Michelle may grab the helper while riding as a passenger in the car. She enjoys riding in the front seat, but it is safer for the helper to place her in the back passenger seat. This placement requires a longer stretch to reach the driver. The doors must remain locked while in route, as Michelle may manipulate the door handle and open it. Strong wind in Michelle’s face is unpleasant, and care should be taken not to travel with the windows down on her side.

Michelle must never be left alone in the vehicle, as she can open the doors, lock the doors, break a window with her elbow or accidentally start the engine if she curiously switches the key. She needs assistance fastening her seat belt and must wear a seatbelt at all times. A helper must be aware that Michelle’s strong fingers may unbuckle her seatbelt.

Michelle is very observant around the house. Much like a toddler in this respect, she recognizes when the helper is not monitoring her closely and will take full advantage of the situation. She chooses these moments to sneak off to the bathroom, turn on the water in the sink or in the tub. Michelle does not understand which facet issues hot or cold water and she will get scalded if a helper is not near. This angel will climb into the tub with or without water. She likes opening doors to any room and often escapes out of the house. If the helper is not paying close attention, Michelle will fall down the steps onto the concrete, fall down the ramp or even stagger her way into the street. Michelle turns knobs on the stove so she can get burned severely if a helper is not close. She lifts the washing machine lid, so a helper needs to be there to prevent the lid from slamming down on Michelle’s hand. She enjoys flushing the toilet, but also lifting the toilet lid. A helper allows Michelle the freedom to investigate her living environment but remains available to assist when needed to remove her from any dangerous situation.

Michelle enjoys pounding on the windows, and a helper remains close to prevent injury or a busted window. This angel might fall into the window if she isn’t monitored while walking through the house. She might fall over furniture or into the television set. Her strong fingers will pull decorations off the wall, cords out of the sockets, or she may even chew on an exposed electrical cord. A helper needs to be present twenty-four hours a day.

Michelle must not be left alone under any circumstances. She will get into a car with a stranger if she were able to get to the car without falling. This angel will never cry out if she is in danger nor does she know how to dial 911 for a fire. She will make no attempt to get away from a fire and knows no fear of pain. Since she does not retain learning experiences in long term memory, tomorrow she will crawl right back to the fire. A helper gets her into a safe place during a storm and is aware of the danger with flood or lightning. Michelle has no knowledge of a loaded or unloaded gun, but she might be able to explore it enough to pull the trigger. Michelle will not recognize a poison and might mistake it for something good to eat. Michelle will put objects in her mouth, explores them with her tongue, and eats at them if they look or smell like food. Michelle has tough teeth, and will chew the feet off of a BarbieÓ doll. A helper is there to keep her environment clean and uncluttered from potential hazards. If Michelle is near any water source -- fountain, creek, lake, river, swimming pool, mud puddle, bathtub, a helper must be present because Michelle will dive off a bridge to play in the water.

Michelle requires a helper to participate in any activities. There is an endless list to activities Michelle enjoys in her life, and without the presence of a helper by her side, very few would ever be realized. A helper provides the peddling power with Michelle on her blue, two-seater, three-wheeled tricycle. Michelle giggles and bounces through the pasture on the John Deere Gator, as a helper gives the gas and drives. While Michelle enjoys the fresh green grass, blue skies, and sunshine air at the golf course, a helper steers the golf cart around all 18 holes. Michelle sits astride a saddle, her horse trotting at slow speed at a therapeutic riding center in the springtime, while a helper holds Michelle steady and guides the reigns.

Michelle floats on her back in the water at the city swimming pool as a helper holds this angel’s head gently and keeps her face above the water surface. While feeding the cows in the old farm truck, a helper buckles Michelle in for safety and honks the horn to call the cattle up. Michelle watches a special movie with a bowl of popcorn resting in her lap prepared by the helper. Michelle loves eating out in a crowded restaurant in town, but a helper must guide this angel’s hand and stabilize the spoon so she can successfully scoop in food. Friday night requires a helper to provide this angel transportation to visit friends and the ride back home.

During choosing activities, a helper knows what will be beneficial and offers the appropriate choices. Presenting a private puppet play with Elmo’s crew, a helper provides all the character voices and routines. During a zoo trek into the jungle, the helper reads every clue card and explains each animal to our angel. Michelle views the most beautiful art at the local museum and enjoys it because a helper takes the time to pause, which allows Michelle her own time to wonder and dream. On the Riverwalk, Michelle enjoys a picnic lunch and a long stroll near the edge of the water. A helper treats Michelle as a friend and makes the time special for Michelle. At the fountain on Riverside Drive, the ever-present breeze sprays water across Michelle’s bare arms, and the helper enjoys the mist, too. During a shopping spree at the mall with the choice of so many stores to go into, the helper takes Michelle up and down the escalators, or on the carrousel horse, as many times she wants to go.

At the end of a day filled with activities, the helper knows what Michelle’s challenging day was all about and cares enough to offer her special relaxation time sitting on the sofa. After spending an hour bobbing in a soaking bath, it is the helper by Michelle’s side who tucks her in for the night with a promise of sweet dreams and safety until morning.

Michelle exhibits a wide range of both positive and negative actions and reactions. Each, is a unique part of this angel’s overall persona. Actions that seem unusual to an outsider glancing into Michelle’s world are "the normal" occurrences in the life journey of this challenged young lady. A helper who stays aware of these characteristics will be able to support Michelle.

Michelle often giggles continuously. This is a primary characteristic of Angelman Syndrome. She giggles in times of happiness as well as pain. The doctors say giggling signifies frustration with her inability to communicate in the world around her. Sometimes it interferes with everything, from eating to the toilet ritual. All of Michelle’s muscles contract when she extreme-giggles and this limits any activity. Giggling is especially dangerous while Michelle is eating. She sucks in food and air, which causes choking. Walking proves impossible, as her legs stiffen and her body doubles up tight. Sometimes during the night, Michelle may giggle continuously. It is important for the helper to check on her often throughout the night. In the past, Michelle has gotten her knee twisted between the mattress and bed frame while crawling out of bed and she didn’t cry out, or scream in pain, but giggled profusely. Her left leg was badly bruised and she had trouble walking for several days after the trauma. Yet, she never complained.

Michelle goes through stages when screaming seems to be her favorite form of communication and she will scream while in the car, eating in a restaurant, sitting in a movie theater, or even sitting in church. She has a high piercing squeal, which does hurt the eardrum of anyone within range. At times she is indicating the need for a drink, an oncoming bowel movement, or the fact that she is overheated, over stimulated, in pain, hungry, or upset. A noisy crowd overwhelms Michelle, and screaming expresses her protest quite effectively.

A helper uses intuition to identify a potential problem. Sometimes a walk may avail or simply remove Michelle from the environment she feels frustrated in. A helper may wipe Michelle’s face with a cool cloth or offer her a snack with a drink of water. If a television is available, a helper starts a movie. At certain times a helper needs to just be there, allowing Michelle to rest her head in her lap, listen to soft music, and gently massage her back and shoulders. The screaming episodes cycle through phases from more to less frequent and come back again.

Once, while taking a shopping trip to the mall, before a lunch treat in the food court, it was necessary for me to take Michelle to the toilet. Michelle was primed with the smell of food and eating was priority on her mind. After several minutes in the bathroom stall, with distracting noises such as people flushing the toilet, using the blow dryer, and talking loudly, a screaming protest from Michelle ensued. A lady knocked on the stall door and asked if everything was all right. She sternly informed me she had called for security after hearing all the commotion. I told her I was working with my disabled daughter in an attempt to help her go to the bathroom. I opened the stall door slightly and thanked her for the concern. The lady huffed, "Okay." Michelle refused to urinate in our allotted time, and once we exited the ladies room, two security guards were waiting. Michelle pulled me past the security guards and toward the food. The guards watched us for several minutes with arms crossed about their chest before walking away.

On a family vacation in Washington D.C., Michelle demonstrated her ability to get everyone’s attention in a hurry. While enjoying lunch, along with five hundred other noisy visitors in the glass-domed lunchroom at the Air and Space Museum, Michelle let out a shrill scream, which echoed for several seconds. Every person in the place became suddenly silent, and every head jerked toward our red-faces. Michelle, oblivious to the five hundred pairs of eyes glaring in on us, resumed eating and giggled, enjoying the silence she created. The chatter surged back across the cafeteria while our family ate the rest of our meal in silence.

Michelle often exhibits a distinctive growl. She has perfected this noise by bringing air into the top of her throat and releasing it to create a unique sound of a snort and growl combination. This sound, combined with giggling, becomes a food sprayer during mealtimes.

Michelle scratches herself and others. It is important for the helper to keep Michelle’s fingernails clipped short and smooth. Her nails grow quickly, and it is necessary to clip her fingernails at least once a week. Most scratching occurs while Michelle is grabbing for someone. This angel’s fingers are super strong and if her fingernails are too long, they can gouge or break the skin of another person. Sometimes Michelle scratches herself raw across her stomach or arms because she is itching, sweaty, or nervous. A helper can calm and cool her with a soaking bath then massage lotion across her stomach and arms to reduce the irritation which scratching has caused. Occasionally, Michelle even pinches someone. Usually it is just luck or how she grabs the skin to pull someone closer. Pinching, with her strong fingers, is quite painful. If someone has lose skin on their neck or arms, Michelle will find it. Domestic pets are also in considerable danger, as Michelle will grab and pinch rather than pat softly. If an animal scratches or bites because Michelle is being rough, our angel will giggle and clamp on tighter. The result, serious injury to Michelle, so a helper must monitor all interactions between Michelle with animals.

Michelle goes through cycles of ruminating her food. Moments after eating and even several hours after a meal, much like a cow belches up and re-chews their hay, Michelle will bring her food back up into her mouth. She will wallow it around in her mouth and re-chew before swallowing it back down her throat. Michelle will not chew her food sufficiently and ruminates partially digested food. This activity is a self-stimulation and became habitual over time. The rumination is extremely unpleasant to witness and a dangerous esophageal health concern. During these episodes, the helper may feel helpless but can attempt to redirect Michelle’s concentration from ruminating food toward the walking task, a movie, or a puppet game.

Lip smacking, tongue thrusts, and teeth grinding are a constant distraction for Michelle. Doctors say this activity is self-stimulation or possibly caused from years of medications. Tardive dyskinesia is the medical term for this disorder. The movements are caused from the constant irritation to the gums, according to Michelle’s dentist. A helper must maintain Michelle’s oral cleaning regiment to minimize these activities. The mouth movements become quite aggressive and at times she appears to be foaming at the mouth. She may discover a tiny sliver of food and roll it around with her tongue for hours, then outside onto her lips to continue the play until the food dissolves completely. The area below her bottom lip becomes raw and irritated because of the constant moisture manipulation through lip smacking, tongue sweeps and teeth grinding into that area.

Michelle has experienced almost every range of the following seizures since that first witnessed one occurred in June of 1984. Tonic-clonic seizures consist of the stiffening (tonic phase), and the rhythmic jerking (clonic phase) consists of rapid muscle contraction. Myoclonus seizures consist of a single jerk of a muscle or group of muscles. Partial seizures involve turning of the head stiffly to one side. Absence seizures consist of a loss of awareness without convulsive jerking. Most seizures are brief, lasting seconds to minutes and seem to occur when Michelle is about to go to sleep, excessively tired or her body is stressed. This time, between sleep and wakefulness, is referred to as the "twilight zone".

Medications seem to keep the seizures in check with only occasional break through seizures occurring over the past several years. A helper should remain close to Michelle during a seizure and lay her on her side, pat her gently and speak softly to reassure her. A helper should never put anything into Michelle’s mouth or try to restrain her involuntary movements. A helper notes which parts of Michelle’s body are involved and how long the seizure lasts, then makes a call to the appropriate medical personnel as soon as possible. During a seizure, Michelle may wet herself. Following a seizure, she may be extremely tired or cranky.

Tremors are a constant part of Michelle’s daily life. The doctor’s do not feel tremors are seizure activities, but the jerking and tremors are extremely disruptive to her abilities to feed herself or walk. The jerking effects most of her upper torso and arms. Her hands and fingers form into rigid claws and the movement is very rhythmic. Occasionally the severity of the tremors can be pinpointed to the need of an overdue bowel movement or her upcoming monthly menstruation. A helper should try to relax Michelle if possible. Michelle is extremely unstable during these tremor times and a gentle massage with soothing music may lessen the severity. The tremors are not noticeable while this angel is sleeping.

Michelle is overflowing with affection. She loves to hug and be hugged. Michelle never knows a stranger and offers trust unconditionally. This angel will bring her face close to a person or pull their hair to bring them closer to her. She will grip-hug, grab clothing, or pull arms. Michelle will sit on anyone’s lap or sit down beside him or her without invitation. She may even try to give sloppy kisses or touch noses. It is important for a helper to be with Michelle to nurture this innocent gift and be her protector from anyone who might take advantage of this loving spirit.

Michelle dances in circles. One leg remains in a fixed position on the floor, while the other leg pivots her around. The result of this fancy dancing is one dizzy girl and a helper needs to remain close to catch our angel when she stumbles. Eventually she slows her orbiting frame and stops, then giggles and staggers drunkenly in every direction. Although her body is no longer going in circles, it is apparent that her head is still in the spin cycle.

Communication continues to be the greatest frustration for a helper and for Michelle herself. Michelle, at the age of twenty-one has no recognizable words to share with the world and requires a helper to interpret her needs through instinct and random guessing. Michelle grabs, giggles, and pulls in her attempts to achieve communication. Individuals with Angelman Syndrome all exhibit weak communication skills and few words are ever spoken. In some instances, a handful of words will take on meanings for everything.

A helper has to remain observant to any changes in Michelle’s demeanor to ensure safety twenty-four hours a day and be her voice at all times. A subtle change in this angel’s body language, eye contact, physical gestures or throat sounds, can hint of an unspoken need or be a sign toward an impending medical alert. A helper will be Michelle’s voice at the doctor as well as be a responsible, caring and knowledgeable advocate for Michelle in any situation.

Doctors explain Michelle’s inability to receive and express communication the way most people do is because of a neurological malfunction. As Michelle receives messages, her brain may only audibly retrieve every third or fourth word spoken. Perhaps bits and pieces of words and sounds are received, much like the cut-out language of a cell phone with bad reception. Therefore, the consistency required in learning usable language is compromised and because we rarely repeat the same word structure, it is impossible to make the necessary connections or express them back into a recognizable form of communication.

When communicating with Michelle a helper must use consistent terms, short statements, and even one-word responses with physical gestures when possible. A helper must be patient and aware that Michelle requires more time to process a thought before she will react. A phrase is presented and Michelle’s brain begins to process. If different words are spoken, her brain will restart itself back to a new beginning and the first phrase becomes lost forever. Every sound or distraction resets her brain. An example is a mother yells to her child, "Johnny, don’t you run into that street." A child with a neurological malfunction might only hear, "Run street."

Communication boards and battery operated jellybean buttons have been attempted for Michelle in the past. She pressed the red button with a recorded message for her need to go to the bathroom, or the blue button and a recorded message for a drink. She enjoyed playing with the buttons and hearing my voice, but it was determined by professionals that these devises did not effectively express Michelle’s actual needs. Being mechanical devices, which have to be carried in a satchel or velcroed to a desk, they are not always available. The best chance for a helper to communicate with Michelle is through the simplest means possible, verbal cues and body gestures.

Michelle requires total assistance in preparing for bedtime. After a final movie, a night trip down the hall to the bathroom and the stance at the window to undress is in order. A helper pulls down Michelle’s pants, then sits her on the toilet. While Michelle sits on the toilet the helper encourages her to empty her bladder before bedtime. A bowel movement might occur at the toilet, although these usually happen in the middle of the night or at other unexpected times. Michelle is more hyper in the evenings while preparing for bedtime and a helper allows extra time for the concentration to develop toward the task of going to the bathroom.

Once Michelle has emptied her bladder, and if a bath is not required for the evening, the helper places Michelle’s feet, one at a time, into her one-piece sleeper and stands her back up to the window. I find it easiest to place the overnight brief, with three diaper-doublers pyramid stacked inside, while she is standing at the window. After the diaper is secured into place, the sleeper is pulled up, Michelle arms placed through the sleeves and the sleeper is zipped up the back.

The helper escorts Michelle to her bed and covers her up with a light blanket. This angel does not comprehend how to cover herself. She rarely stays covered throughout the night and a helper needs to check on her several times during the night and ensure she is warm enough. A helper offers reassuring nighttime words and a soft pat before turning off the light, always staying alert for the sounds in the night.

Michelle is vulnerable when an illness strikes. She has no concept mentally or physically of how to prepare herself for nausea and will easily choke or aspirate on vomit. (PhenerganÒ suppositories, to treat vomitting, are kept in the refrigerator along with a supply of pediatric electrolytes to prevent dehydration.) During times like these, a helper needs to be present and responsive. Michelle endures best while in a recliner, rather than lying flat in a bed. The recliner keeps her head angled slightly and her body relaxed in a sublime position. The helper drapes the recliner with a shower curtain liner and covers it with a soft blanket or large beach towel. Towels are placed around the circumference of the recliner to protect flooring. This allows Michelle a comfortable place to rest in an area that can adequately be cleaned. An attentive helper will remain close with a tissue lined plastic bowl, damp cloths, several towels, and calming words. Michelle should be covered with a beach towel, which is absorbent and can be laundered easily. The towel will keep her warm and minimize most soiling from her overflow.

Bouts of diarrhea are extremely challenging for Michelle, as she does not understand how to control her bowels or the concept of the word "wait." (A dose of Imodium ADÒ is given following the first extreme bowel movement) Rarely will the helper catch her in a timely manner for the toilet ritual. I keep a supply of junky clothes available for frequent changes on the days when diarrhea compromises her system.

Michelle’s explosive diarrhea is extremely foul smelling. The easiest way for a helper to clean Michelle afterwards is to sit her on the bath chair in the tub and rinse her well with the extended shower nozzle, then proceed to a soaping shower. With severe diarrhea, it will be necessary to undress her while she is sitting on the tub chair in the tub to avoid getting excrement on everything and everyone. A helper should always wear rubber gloves and be organized before the cleaning task begins, with trashcan for diaper disposal, plenty of lotion laden disposable wipes, and appropriate container for soiled clothing.

Two helpers are preferred because the task of cleaning Michelle following diarrhea is overwhelming due to the extreme odor and messiness. Michelle is often more aggressive and over stimulated during these times. She will grab herself, the helper or the shower curtain with her octopus arms and strong fingers. Michelle’s tremors will be advanced during these times, so her coordination will be off and cooperation non-existent. The helper needs to practice extreme patience during these times and respect Michelle’s inability to communicate or understand what is going on.

I rinse Michelle’s clothing outside in a large plastic bucket. At times overnight soaking is required, and occasionally clothing disposal or burning is the only alternative.

Michelle is a young woman and like most young women, she experiences monthly menstruation. Rarely, she will be late or skip an entire month. She has no concept of what is happening to her womanly body during the several days of bleeding. It is important for the helper to note the monthly dates on a calendar along with the severity of tremors and behaviors, which can occur up to a week before the menstrual cycle begins. Michelle’s periods are of normal length, lasting approximately five days with heaviest flow occurring on the first three days of the cycle. The longer length protective pads with wings are preferred over internal tampons. These pads are placed inside her disposable brief during the day. Three diaper double pads placed inside her overnight brief are sufficient protection throughout the night.

Michelle demonstrates true PMS symptoms. She often has an explosive bowel movement at the onset of her period. Her face and back will break out, she will be cranky or growling and prefer to stretch out lying flat on her stomach. (Liquid MotrinÒ is provided to ease the discomfort.) Tolieting accidents occur frequently during her period, but a helper needs to continue consistency and take Michelle to the toilet on regular intervals. Walking is a good exercise while Michelle is on her period, but a helper must be aware to observe her body language, as she will be unsteady and tire easily. Extreme heat should be avoided as well as over stressful environments. Consideration toward Michelle’s hygiene during her monthly period is important with regular pad changes and perineum cleansing to alleviate odor and prevent itching. Michelle will grab herself and dig with her strong fingers because she is uncomfortable and does not understand.

Michelle, at the age of twenty-one, is physically strong in certain areas, such as grabbing or pulling, but lacks mental direction and muscular control. She has the curiosity of a young toddler exploring their new world and the physical size of an adult woman. Every day for her is brand new. Over time, she has fine-tuned some of her abilities in the art of sneaky-sneaky.

Michelle enjoys and takes to heart the world around her and just like every other child, she deserves the right to enjoy this world. She enjoys all of what life has to offer, like playing out in the fresh air or riding her tricycle on a warm summer day. With a helper she enjoys a ride on the Gator through the pasture to check on the cows or bouncing in the old feed truck. A helper can insure Michelle attends a movie, enjoys lunch at a nice restaurant, or stays in a motel with an indoor swimming pool. Michelle enjoys the socialization and a special trip to the mall to explore the shops, a ride up or down the escalator, playing in the game room or taking a musical spin on the carousel horse. She enjoys being around friends from young children and young adults to the elderly and has no preconceptions toward an individual based on their race, age, economic status or gender.

This young lady offers friendship toward everyone. The only difference between Michelle and another child is she requires a helper hand-in-hand who is present twenty-four hours a day to guarantee her continued freedoms, health and safety. Remember that Michelle Rose Mallory offers you unconditional love and is a loving angel entrusted to your care.