One drastic misdiagnosis forever changed Susan Sinden’s life in a heart beat. She was a mother and a wife who went to the doctor with a cough. “The doctor thought it was asthma and gave me Advair, then sent me home. I was supposed to follow-up the following week with an appointment, but I never made it,” says Susan. Four days later, she was in the emergency room feeling very sick. Susan didn’t wake up until 12 days later.

It was found that Susan didn’t have asthma. Instead she had one of the most deadly types of pneumonia a person can get, known as pneumococcal disease. Doctors told her family that the survival rate for Susan’s pneumonia case was zero to none. Gangrene developed in her lower extremities, forcing the doctors to amputate both of her legs below the knee and all of her fingers on both of her hands, except for her thumbs. But, her struggle to survive would not end in the hospital. Susan continued to fight for her independence while living in a rehabilitation center, and later, she fought to become a thriving member of the community once more.

Life in a rehabilitation center was not ideal for Susan, a woman who had an active life prior to her disability/illness. “[In the rehabilitation center] you don’t have a lot of space or privacy. I felt lost at first because everything changed so quickly,” says Susan. She was very close to her supportive husband and regretted not being there for her son when she was in the nursing home. “I missed out on three years of his life,” she says, “Then I said, ‘It’s my time to live in this community, like I did before.'”

Fortunately, for Susan and others, living in a nursing home, intermediate care facility or other type of institution is not the only option. In fact, the cost of living in an institution is higher than the costs of living in the community. With proper education about housing options, funding, advocacy, and personal care, transition from institutional living to community living can become a reality.

Proper education is the key to any successful transition. Your first step is to gather as much information as possible to make an informed decision. According to Julie Alexander, Nursing Home Transition Program Project Coordinator for Independence First, the first step is making the initial phone call and getting in touch with a transition counselor. “When working with people [in an assisted living home], they can contact us or we can get in touch with them. Then we can move on to coordinating services like housing, funding and personal care,” says Alexander.

A transition counselor can teach you many important skills, including advocacy. It’s important to learn to be your own advocate throughout the planning process by knowing your rights, your entitlements and how to file a complaint. Alexander knows how frustrating it can be. “We help people get through the red tape,” she says. “In the last year we’ve negotiated with the housing authority to designate a number of places for people with disabilities.”

The process to transitioning can be a long one. “An ideal case is someone who is moving back into their own home and will need some personal care services. In a good case scenario, this would take about six weeks.” However, Alexander continues, “Finding a one bedroom residence may take one to two months or even up to three or four months if the case is complicated and involves county assistance. I’ve seen cases that can take six or seven months because of the waiting list.”

The most difficult challenge is finding housing. You may choose to live with relatives, find subsidized housing or find low income housing. Unfortunately, there is not a lot of accessible housing for people with disabilities, or the waiting list is so long that you may find yourself waiting for up to four years.

In addition to housing challenges, sometimes even family and doctors can be a barrier towards your independence. Concerned family members may not support the transition. It then becomes necessary to convince them that living on your own is an achievable goal. If the nursing home staff determines that you can live safely on your own, then you have the right to make your own decisions about moving out. “My psychiatrist didn’t think I was emotionally ready because I was too eager and stubborn, and I was jumping into things too quickly, but he was wrong. I said, ‘It’ll be over my dead body before I’ll go back into a hospital or nursing home,'” says Susan.

The next essential step is to investigate funding resources that are available. In Wisconsin, for example, “The state has designated funds for individuals who want to live in the community under the Community Relocation Program,” says Alexander. Look for resources such as the Housing Voucher Contract that can help if you want to move back into your home but need funding for a ramp. However, don’t expect this to be a quick process with a fast turn-around. “Money is there, but it takes time,” says Alexander. Be sure to ask questions about other resources that may be available to you at your local independence center.

Have a true understanding of the independent living philosophy: everyone has the right to live in the community. “Consumer choice and community empowerment is what our philosophy is. When I meet with someone, it’s about what they want. We work with people, not for people. And, [we] give them the resources they need: direction, empowerment and control,” says Alexander.

“I am more than happy to be alive,” says Susan. “Without them (Independence First’s transition help) I wouldn’t be out of there. I‘d still be in a nursing home. It’s a challenge, but it’s better than being where I’ve been. I’m working really hard on my prosthetics, and that’s progress for me. It’s not a piece of cake, but you learn to adjust.”

Please visit www.independencefirst.org or www.ENDependence.org for further information on transitional living and for of experts familiar with the transition process.

• Designing Your Accessible Home: Working with a Specialized Architect
• Fact Sheet: Disability Rights in Private and Public Housing

Al Freedman of Pennsylvania will never forget the day he was told that his 6-month-old son Jack had spinal muscular atrophy (SMA), an incurable and progressive neuromuscular disorder. “It was like being launched into the Twilight Zone,” Freedman says. Life was suddenly filled with doctor visits, scary hospital stays and equipment to help Jack eat, breathe and cough.

Yet, Freedman remembers just as clearly the day his grief over having a severely disabled and medically fragile child lifted. It was a day like any other day. He was driving the van, 4-year-old Jack in the back seat, laughing and singing to the radio.

“He had such a positive attitude about him,” Freedman says. “I remember thinking that I should not limit his happiness by my sadness.”

Jack is now 11 years old. While his life is different than other children’s his age, in many ways, it is also much the same. He goes to school, plays with friends, swims and works on his computer. According to his father, he’s a happy boy who seldom complains about his physical limitations. For Jack, says Freedman, his disability “is what it is.”

SMA is a genetic disorder that occurs in one out of every 6,000 live births. It is caused by a missing or mutated survival motor neuron gene known as SMN1. This gene triggers the production of a protein crucial for the proper working of motor neurons.

Motor neurons are nerve cells that start in the brainstem and run down into the spinal cord, sending messages to the muscle cells that control voluntary movements such as breathing, swallowing, speaking and walking. Without the necessary protein, motor neurons degenerate and die, causing muscle weakness. SMA does not affect cognitive abilities; in fact, many children with this condition are described as being unusually bright.

One in every 40 people carries the defective gene that causes SMA. The offspring of two carriers has a one in four chance of having SMA.

Because the course of SMA varies, it is generally classified into four types based on age of onset and the achievement of motor milestones:

Type I is the most severe type of SMA. It affects children age 6 months or younger, 50 percent of whom die before they reach age 2, generally due to complications from respiratory infections. Children with Type I SMA are unable to sit without support.

Type II SMA strikes those between 7 and 18 months of age. Children with Type II SMA are able to sit without assistance, though they may need to be placed into a sitting position. They may suffer frequent respiratory infections and are at greater risk for complications from these infections.

Type III is a less serious form of SMA, affecting children from 18 months into the teen years. Although their muscles are weak, children with this type of SMA can walk initially. They often need a wheelchair as the disorder progresses.

Type IV affects people older than age 35.

Most often, parental concern about a child’s lack of normal movement or failure to meet motor milestones precipitates testing for SMA. Most SMA cases can be detected by a blood test, which looks for the presence of the SMN1 gene.

While physical problems vary according to type and severity of SMA, three of the most common problems are:

Because of weakness of the muscles involved in sucking, chewing and swallowing food, children with Type I and some children with Type II SMA have difficulty taking in enough food to grow normally. They also may have problems with choking during eating. It may be necessary to provide nutrition through a feeding tube.

Children with Type I and Type II SMA breathe with the diaphragm muscle because they have weak intercostal (between the rib) muscles. This respiratory muscle weakness results in underdeveloped lungs, problems taking deep enough breaths to maintain normal oxygen and carbon dioxide balance and trouble coughing in order to bring up secretions from the lungs.

A respiratory care plan should be in place as soon as an individual is diagnosed with SMA. This plan specifies the daily respiratory care needed and any intensified care that may be necessary during colds or other respiratory illness. It may include:

• Measuring the oxygen level in the blood (pulse oximetry)
• Chest physiotherapy to loosen secretions in the lungs
• Positioning to allow secretions to drain
• Suctioning to rid the upper airway of secretions
• Manual and/or machine cough assistance
• Non-invasive respiratory support (intermittent positive pressure ventilation)
• Invasive respiratory support through tracheotomy (surgical opening in the windpipe) and mechanical ventilation

Children with SMA, particularly if they are unable to walk, usually develop problems such as scoliosis (curvature of the spine) and contractures (permanent shortening of muscles and tendons adjacent to a joint) with decreased range of motion in the joint. Physical and occupational therapists can help family caretakers decrease the severity of these problems with therapeutic exercises, proper positioning and the use of devices to help the child to a standing position (standers).

Parents of a child newly diagnosed with SMA often find themselves in a whirlwind of medical office visits. They may experience frustration in finding that some health care providers are unfamiliar with SMA. Freedman stresses that it’s important to seek out medical professionals who are knowledgeable about the condition. One good place to start is your local Muscular Dystrophy Association (MDA). You can find the MDA in your community by visiting www.mdausa.org. MDA helps with resources for all neuromuscular disorders including SMA.

MDA-sponsored clinics are held in a number of hospitals, says Lisa Perry, coordinator of Good Shepherd Rehabilitation Hospital’s Muscular Dystrophy Program in Allentown, Penn. Many of these programs offer a multidisciplinary approach to SMA that includes physical and occupational therapy, speech therapy, nursing services, respiratory care and counseling. The MDA often covers costs that are not paid for by insurance companies. “I like to think that we walk hand-in-hand with families every step of the way,” Perry says.

Another source of support is Families of Spinal Muscular Atrophy (http://www.fsma.org), an online resource center offering comprehensive education and support for individuals with SMA and their caregivers. In addition to news and education regarding all aspects of SMA, there is an online chatting feature. To learn more, visit the Web site or call (800) 886-1762.

Being the parent of a child with SMA can be challenging. The child will need extra help to meet physical challenges that can delay development and set them apart from their peers. Despite these challenges, however, having a child with SMA is a gift, according to Freedman. In fact, he says Jack has led him to people, places and opportunities he might not otherwise have experienced.

“He teaches a lot of important things by his presence,” Freedman says. “Jack brings out the best in everyone: me, my wife and others around him.”

In her fourth month of pregnancy, Kristi Saul of Oklahoma City, Okla., found out she was carrying a child with spina bifida, a birth defect that would likely result in some degree of permanent disability. “It was a stressful time,” Saul recalls.

Although her doctor gave her some information about spina bifida and Saul read as much as she could find about the condition on the Internet, there were still many unanswered questions. It was impossible for the doctor to predict prior to the baby’s birth how severe the disability would be. And even now that Saul’s child Marley is 3 years old, doctors are unable to say exactly what she’ll be able to accomplish in the future because there is great variation in development among individuals with spina bifida.

Spina bifida is the most common permanently disabling birth defect. It occurs in approximately one in 1,000 births. According to the Spina Bifida Association of America (SBAA), there are an estimated 70,000 people in the United States living with this condition.

Spina bifida is one of several neural tube defects. The neural tube is a group of cells that eventually develop into the brain and spinal cord. Very early in the embryo’s development, if the neural tube fails to form properly, it results in the incomplete closure of the spinal column. In the most severe form of spina bifida, the spinal cord and nerves protrude through an opening in the individual’s back.

It’s not entirely understood what causes spina bifida, but it is believed that this condition is a result of a combination of genetic and environmental factors. Women who are obese, who have poorly controlled diabetes or who are taking certain anti-seizure medications are more likely to have a child with spina bifida.

It is also thought that a deficiency of folic acid, a B vitamin that helps the body make healthy new cells, may be a factor. In addition, those who are Hispanic are more at risk of having offspring with spina bifida than other ethnic groups. Spina bifida can be detected prenatally through blood testing, ultrasound examination and amniocentesis.

Spina bifida can affect several parts of the body. Some of the most common problems are:

Paralysis of the lower extremities: Loss of motor function varies depending on the point on the spinal cord where the undeveloped area occurs. The defect in the spine may occur in the middle of the back, the lower back or at the base of the spine. If the problem is higher up on the spine, there is greater paralysis and loss of motor function.

Hydrocephalus: Most babies born with spina bifida develop a condition called hydrocephalus, which is a buildup of excess fluid in the brain’s ventricles. This is caused by changes in the cerebrospinal fluid circulation due to the defect in the spinal cord and a condition called the Chiari II malformation, which most individuals with spina bifida have. In Chiari II, the brain is located farther down in the upper spinal column than it should be, resulting in a change in the flow of cerebrospinal fluid.

Bowel and bladder problems: Often the nerves that control bowel and bladder function are damaged, resulting in problems with bowel and bladder control.

Learning difficulties: Although the vast majority of people with spina bifida are of a similar intelligence to individuals without disabilities, problems with the brain associated with the Chiari II malformation and resulting hydrocephalus often cause problems with attention, long-term memory, comprehension, eye-hand coordination, planning and organization.

Secondary problems: Secondary complications related to spina bifida include obesity, skin breakdown, latex allergy (due to multiple exposures to latex during procedures), depression and sexual issues.

The most important aspect of treatment for spina bifida involves surgery that puts the nerves and spinal cord back into the spinal canal and covers it with bone and skin. This is generally done within a day after birth, although in several locations within the United States doctors are experimenting with performing this procedure prenatally. While earlier surgery may keep nerve damage from progressing during pregnancy, doing such a procedure poses a risk to both the fetus and the mother.

If there is hydrocephalus present, a shunt is placed from the ventricles of the brain into the abdomen to allow excess spinal fluid to drain into the body. This will correct the buildup of fluid but will not reverse damage that has already been done. Children who have shunt surgery will need to be monitored for signs of shunt blockage and may need shunt replacement periodically during their lives.

Problems with bladder emptying are corrected by using a clean catheter to drain the bladder at intervals each day. Over time, many children with spina bifida will learn how to do this procedure themselves. Bowel problems are addressed with diet, medication and bowel training.

Early intervention for help with motor development is crucial. Most children with spina bifida are eventually able to walk with the help of leg braces and/or crutches, though some may need a wheelchair to get around. Early intervention also can help with fine motor skill development, which is important for learning and for promoting dexterity for future self-care activities such as catheterization. When a child with spina bifida enters school, it’s imperative that parents and other caregivers work closely with the child’s teachers to develop a plan to ensure maximum learning potential.

It’s crucial to help a child who is facing a lifetime of permanent disability to think in terms of what he or she can do rather than what she cannot do. “Everybody’s good at different things,” says Saul, who ends each day with Marley by stating affirmations. “We talk about her unique qualities.”

Saul also emphasizes the importance of helping a child with spina bifida participate in community activities such as swimming at the local YMCA or going to the library. She believes it is good for both the disabled child and others around her to acknowledge that each person has weaknesses – and strengths.

The outlook for a child with spina bifida is much brighter than it was even 15 years ago thanks to surgical intervention and improved medical knowledge about maintaining optimum health. Most children with spina bifida live a normal or nearly normal lifespan, attain independence and work at competitive jobs.

What advice does Saul have for parents who have just learned that their child has spina bifida?

“Stay open to the possibilities,” she says.

For more information about spina bifida, visit the Spina Bifida Association’s Web site.

I was keeping an eagle eye on my preschooler that summer day at the gorge. Sharp rocks, swift water, stinging insects — so many dangers for an overprotective mother to worry about. But cause for concern was about to come from a totally unexpected place.

Amir had come out of the water and was shivering as his dad dried him off with a big towel. Suddenly my husband called to me with concern in his voice.

“Look at Amir’s chest!” he said. “What’s wrong with it?”

I looked at my shivering son. His right side looked flatter and more caved in than his left side. The right nipple was higher up on his chest than the left. It wasn’t red or swollen, however.

“We have to take him to the emergency room,” my husband said. He was already packing up the blankets and picnic gear. I wasn’t sure it was an emergency situation. But could Amir’s chest have been like that for a long time without my having ever noticed it?

Our next-door neighbor was a surgeon and good friend, so I convinced my husband to call him when we got home. He examined Amir and said he had Poland’s syndrome, a congenital defect. He made Amir put his hands in prayer position and showed us that the fingers of his right hand were smaller than those of his left.

“Amir has had this since birth,” the doctor told us. “It’s very rare; your pediatrician quite possibly is not even familiar with it. He doesn’t have a pectoral muscle on the right side; that’s why his chest looks so flat.

“Amir’s case is not too severe. Don’t feel bad about not having noticed it. There’s nothing you could have done to prevent it, and it’s not a disease. It’s not going to get any better or worse.”

Poland’s syndrome is a rare disorder characterized by deformities of the chest and hand on one side of the body. It is named after Sir Alfred Poland, the British surgeon who first described its occurrence in 1841. Poland’s syndrome is sometimes known as Poland’s anomaly. It is also sometimes written “Poland” rather than “Poland’s.”

Poland’s syndrome is thought to occur in between one in 10,000 and one in 100,000 births. Gathering statistical data is difficult because it is so uncommon and because mild cases may go unreported.

The condition is thought to be the result of a tiny stroke occurring around day 48 of a fetus’s life. At 6½ weeks after conception, an unborn child is developing limbs. The fingers are beginning to separate, and nipples are forming. Momentary disruption of the blood flow to one part of the body causes a variety of defects.

Exactly why this mini-stroke happens is not known. It has been suggested that there might be some hereditary predisposition toward its occurrence. Cases have been reported of a mother and daughter, or father and son, with similar manifestations of the syndrome. These cases are rare, however. There also are case studies of twins, one with Poland’s syndrome and one without. Some experts have also theorized that Poland’s syndrome may be the result of exposure by the mother to toxins before birth, but this is only a theory.

Poland’s syndrome is much more commonly seen in males than in females, and it usually affects the right side of the body. This data suggests that whatever is happening is not completely random, but just why it happens is not yet understood. The rarity of the condition makes it difficult to study. Most doctors have never encountered a case, and many are unaware of its existence. My own pediatrician brushed it off, saying, “No one is symmetrical.”

Some cases of Poland’s syndrome are more severe than others. The pectoralis major muscle on one side of the body is always at least partially missing, and the hand and fingers on the same side are smaller. Sometimes the arm is only partially developed, or the fingers may be webbed. In females, the breast and nipple may be missing. Plastic surgery — to separate fingers or to implant muscle tissue, for example — can correct many of these features.

Because the chest wall is lacking muscles, respiratory problems may be present. Chest muscles enable a person to cough and thus rid the lungs of bacteria and irritants. Some women with Poland’s syndrome may have difficulty nursing a child. Most of the problems with the syndrome are not physical, however. Self-consciousness about one’s appearance, and learning to live with others’ reactions (well-intentioned and not), are the greatest challenges for an individual with Poland’s syndrome.

I am fortunate to live very close to a Shriner’s Orthopedic Hospital (these hospitals offer services free of charge and specialize in orthopedic conditions). I took my son to see a geneticist there who confirmed the diagnosis my neighbor had made. She assured us our son would be fine and that he would almost certainly not pass on the condition to his children. She predicted that in late adolescence he would become self-conscious about his condition and invited us to follow up with them at that point.

How right she was! Amir went from cheerfully informing nearly everyone, “I’ve got a missing muscle!” in toddlerhood to refusing to take off his shirt in gym class by high school. He began to avoid any activities that would build up his upper-body muscles and exacerbate the difference between his left and right sides. He began insisting that “something be done” about his condition.

So back we went to the hospital. There he spoke with a physical therapist who himself had a chest abnormality (although not Poland’s syndrome). Amir talked eagerly to him about his feelings. A surgeon then examined Amir and described in detail the implant procedure that could be done. After weighing the pros and cons, Amir decided that purely cosmetic surgery was not worth the trouble.

No one at the hospital minimized Amir’s feelings in any way or told him he should be lucky his condition wasn’t worse. He was taken very seriously, and he was offered choices. He chose to live with his asymmetrical body. Although he is outwardly no different than he ever was, Amir now feels 1,000 percent better about himself. He’s gone back to working out with weights and playing basketball. He’s just a normal teen.

Epilepsy affects more than 2.5 million Americans, and yet much of the general public remains uneducated about this neurological disorder. Individuals with epilepsy have spontaneously recurring seizures or episodes in which there is sudden and abnormal electrical activity in the brain. Often this electrical activity results in uncontrollable body movements or the convulsions that most people recognize as a seizure, but sometimes this activity will manifest itself differently, such as through losing consciousness or staring spells.

Many people living with epilepsy will only experience one type of seizure throughout their lives, but others may experience many. It is the recurring nature of these seizures that lead to the diagnosis of epilepsy.

According to the Epilepsy Foundation, there are three commonly recognised categories of epilepsy. Each type is based on the severity of the disorder and the resulting seizures. Uncomplicated epilepsy is controllable with medication and has little effect on an individual’s life otherwise. Compromised epilepsy can be controlled, but it often requires higher doses/stronger medication and results in more side effects. These factors often can infringe on an individual’s education, career or social life.

Finally, there are individuals whose lives are devastated by epilepsy. These people find that their seizures cannot be controlled and that their epilepsy results in slowed learning and impaired motor functions, among other things. Unfortunately these individuals often require lifelong care and are less likely to ever live independently.

Jennifer Stefanik, an intensive care unit nurse at Brigham and Women’s Hospital in Boston, Mass., is enthusiastic about the success of treatment options for patients diagnosed with epilepsy. “In about 70 percent of seizure patients, anti-seizure medication, or medication that effectively stops specific types of seizures from occurring, is the preferred mode of treatment,” she says.

Stefanik notes that there are other treatment options including: the use of a ketogenic diet (one that is high in fat but low in carbohydrates), vagus nerve stimulation (a procedure in which an electrode is implanted in the brain and occasional electrical stimulation reduces seizure activity) or surgery to reduce the part of the brain that is causing seizures. Though treatments will reduce the likelihood of seizures, Stefanik does advise that all individuals with epilepsy teach their friends and family what to do in the event of a seizure. This includes clearing the area, turning him/her to one side, not restraining the person or trying to insert anything into his or her mouth and calling for medical attention if the seizure persists for more than five minutes.

While treatments do abound, there is no cure for epilepsy, so those diagnosed with the disorder, and their families, will live with it for their entire lives. Caring for someone with epilepsy, even when it is being treated, can be stressful, but there are ways to alleviate the stress.

“There is the constant stress of making sure you don’t miss any clues about a possible seizure,” says Virginia Scanlon of Verona, N.J., the mother of a teenaged daughter with epilepsy. “And you must make sure that the school has safeguards in place and a plan of action in case a seizure does occur.”

Scanlon also finds the constant daily regiment of medication and worrying about the onset of a seizure to be a common source of stress for a family that includes an individual who has epilepsy. However, Stefanik advises all her patients to join local support groups or affiliates of the Epilepsy Foundation.

There is no denying that living with epilepsy will bring its own challenges, but the good news is that few of them are insurmountable. “With the right treatment, a person with epilepsy is fully capable of leading a full, healthy life,” Stefanik says. “While they should always be aware of the potential for seizure activity, there is no reason the person cannot attend school and extracurricular activities, go to college, enjoy a career, get married or have a family. The only additions to this are regular checkups with a doctor or neurologist to discuss any changes in the condition or treatment options.”

Russ Beaty of Traverse City, Mich., vividly remembers the day in 1972 that his daughter Jennifer was born. Beaty and his wife were advised to put their infant into an institution where she could be cared for “properly.” But they ignored this advice and took Jennifer home, where — in spite of multiple medical problems and numerous trips back to the hospital — she thrived. “We raised her the same way that we raised her brothers,” Beaty says.

Today Jennifer lives near her parents in a community living center. Staff assist her in perfecting her living skills such as doing her laundry, planning and cooking meals and using public transportation to get to her part-time job in a sheltered work setting. Jennifer hopes eventually to move to a more independent living situation.

Jennifer’s outcome has been undoubtedly better than had she been institutionalized. And the outlook for a high quality life for a child born today with Down syndrome is even more positive, says Leigh Zoellick, project coordinator for the Institute on Disability/UCED at the University of New Hampshire, and parent of a son with Down syndrome.

“It is generally expected that children [with Down syndrome] will be educated, with support, in regular classrooms [and] that they will hold down jobs as adults,” Zoellick says. “Some adults with Down syndrome marry, drive cars [and] live independently.”

How can you help your child with Down syndrome achieve his or her full potential? Most experts believe it’s important to learn everything you can about the disability so you can advocate for appropriate and quality support as your child grows and develops.

People born with Down syndrome have a chromosomal abnormality. Although there are three types of chromosomal abnormalities identified as causes of Down syndrome, the most common is “trisomy 21,” which is an extra chromosome on the 21st pair of chromosomes. This means that there are 47 chromosomes in each cell rather than the usual 46. There are approximately 4,000 children with Down syndrome born in the United States each year, or about one in 800 to 1,000 live births.

Individuals with Down syndrome have a variety of distinguishable physical characteristics (but not necessarily all of them), including:

• Hypotonia, or reduced muscle tone
• Slanting eyelids with small skin folds (called epicanthal folds) at the inner corners
• Small head with flattening of the back of the head
• Flat bridge of the nose
• Smaller, low-set ears
• Small mouth
• Small hands and feet
• A line or crease across the palm of one or both hands
• A gap between the first and second toes

Individuals with Down syndrome are usually of short stature, and their physical development is slower than might be expected. They have varying degrees of intellectual disability, too, from mild to severe.

Children with Down syndrome need the same medical care that all children do, such as well baby visits and immunizations. But most individuals with Down syndrome have special medical needs, too. Common medical problems among individuals with Down syndrome include:

More than half of children with Down syndrome have some type of hearing problem. Early testing will identify and treat problems that can interfere with speech development.

Eye disorders are common among individuals with Down syndrome, including strabismus (imbalance of eye muscles causing eyes not to focus in tandem), refractive errors (nearsightedness or farsightedness), cataracts and glaucoma. Regular eye exams beginning in infancy will help treat any identified problems.

Slightly less than half of children with Down syndrome are born with heart defects. Not all of these defects result in readily apparent symptoms, so it’s important that all children born with Down syndrome have an echocardiogram by the third month of life.

About 10 percent of children with Down syndrome have hypothyroidism, which is a malfunction of the thyroid gland. This results in less production of thyroxin, a hormone that helps the brain and other body tissue grow. Testing for hypothyroidism should be done at birth and at least every two years thereafter.

Intestinal problems such as blockage of the esophagus (food pipe), small bowel or anus are more common among individuals with Down syndrome. There is also a higher likelihood of Hirschsprung’s disease, a disorder in which the nerves that control the function of the colon (large bowel) are absent. This results in severe constipation.

Those children with severe heart disease may have difficulty getting enough nutrition to gain weight. Later in life, during adolescence and young adulthood, obesity can be a problem for many individuals with Down syndrome. Nutritional guidance can help offset these problems.

Children with Down syndrome have an increased risk of kneecap or hip dislocation and also a condition called atlantoaxial instability, which is a condition that results from a misalignment of the first two neck bones due to loose ligaments. Screening should be done to detect these problems.

You can find more information about recommended health screenings for children with Down syndrome on the American Academy of Pediatrics’ website.

It may take time to adjust to the idea that your child was born with a disability. Family support groups can help you find current information about your child’s condition, offer support and help with resources, says David Finn, director of special education for Samford University in Birmingham, Ala.

Zoellick agrees. When her son Peter was small, she enjoyed meeting with other parents of children with Down syndrome. “I lived for that connection,” she says. Now that her son is older, Zoellick feels less need for an ongoing support group, but she still reaches out to other parents for help with particular parenting issues.

For help locating a parent support group in your area, contact the National Down Syndrome Society (NDSS) at (800) 221-4602.

Early intervention is a program that helps children with an identified disability in all areas of development, including gross and fine motor skills, language development, social development and self-help skills. A specialized team of professionals assesses your child’s needs and designs a program specifically for him or her.

“Early intervention is critically important for those children with Down syndrome, as it is with other children having delays in development,” says Riva McLernon, a speech-language pathologist who works with young children in the Burlington Township school system in New Jersey.

Early intervention should begin shortly after birth and continue until your child is ready for a preschool program (generally at 3 years old). To find an early intervention program near you, contact your local elementary school or hospital or contact NDSS.

As your child grows older, he should be able to attend a traditional preschool and, later, elementary and secondary school, though he may need support to be able to do so. According to Finn, given the chance, most children with Down syndrome can learn more than we may think. “The exciting thing about Down syndrome is that we are learning more and more every day about what is possible,” Finn says.

Children with Down syndrome need to learn the skills necessary for a high quality employment outcome, whether it is in a sheltered work setting, supported work setting (where a job coach helps with job skills at a community job until they are mastered) or competitive work within the community.

There are also decisions to be made about housing, whether it is a group living situation, a semi-independent setting or an independent setting. While some individuals with Down syndrome continue living with their parents beyond adulthood, many parents believe it’s important for their child to have his or her own living arrangement.

Janet Smith of Birmingham, Ala., parent of 32-year-old Kerry, who has Down syndrome, is struggling with this issue. Although Kerry is happy living with Janet and enjoys his participation in a group recreational program during the day while Janet is working, Janet wonders if this is the best situation. “As he gets older and I get older, I’m wondering about where the best placement is,” Smith says.

Although Smith and her son have not yet found the answer to their own housing dilemma, she is happy that there are more — and better — choices for people with Down syndrome today, in all aspects of life. “It’s a whole new world out there,” she says.

My sister, Becky, and I are a lot like most siblings: We’re alike in many ways but also have major differences. We share a love of fine dining, shopping, music, movies and going to the theater. We both have a very dry sense of humor and still like to tease each other even though we’re both in our 30s.

We have our differences, too, just like other siblings. Becky’s fashion-forward wardrobe is color coordinated in her closet; I’m more of a jeans and T-shirt kind of gal. She calls herself organized; I say she’s a neat freak. She says I’m messy; I consider myself domestically challenged. Our list of similarities and differences goes on, but that’s where our similarities to most sisters ends.

When I visit Becky and we get ready to go out for dinner, I dress her. At the restaurant, I feed her. If she needs to use the bathroom, I assist her. Becky was born with cerebral palsy.

Cerebral palsy, widely known as CP, is a condition that affects muscle coordination and body movement. CP is caused by brain damage that may occur before, during or after birth as well as during infancy. Becky’s CP was proved in a court of law to be a result of medical malpractice when she was born 32 years ago. However, it is now believed that less than 10 percent of CP cases are caused by problems during delivery.

According to the March of Dimes, causes of cerebral palsy include certain infections in the mother, premature birth, insufficient oxygen to the fetus, blood diseases, severe jaundice or other birth defects including genetic diseases. Research continues to be done on cerebral palsy and its causes. It is not a progressive condition, meaning it does not get worse over time.

United Cerebral Palsy, the leading organization and source for information about CP, estimates the following:

• Approximately 764,000 children and adults in the United States have one or more symptoms of CP.
• About 8,000 babies and infants are diagnosed with CP each year, and about 1,200 to 1,500 preschool age children are also diagnosed.
• About 70 percent of children have congenital cerebral palsy, which results from brain injury in utero, and an additional 20 percent are diagnosed with congenital CP because of a brain injury during birth.
• About 10 percent of individuals with CP acquire it after birth due to brain damage such as infection or head injury.

There are three distinct types of CP, according to United Cerebral Palsy:

• Spastic cerebral palsy means the muscles are stiffly and permanently contracted. About 70 to 80 percent of individuals with CP have this type.
• Athetoid (also known as dyskinetic) cerebral palsy is characterized by uncontrolled, slow and writhing movements. Approximately 10 to 20 percent of individuals with CP have this type.
• Ataxic cerebral palsy is rare and affects an individual’s sense of balance and depth perception. Five to 10 percent of individuals with CP have this type.

Some people may have a mixed form of symptoms, the most common being a combination of spastic and athetoid movements. Other symptoms may include speech, swallowing and mobility difficulties. Sometimes a person with CP may have mental retardation, seizures or hearing and vision problems. Doctors typically diagnose CP by testing an infant’s motor skills and reflexes and looking for symptoms of abnormal muscle tone, slow development and posture.

An individual with CP may face minor or major challenges depending on which parts of the brain are damaged and the type and severity he or she has. Becky has a severe combination of athetoid and spastic CP. She is unable to dress, feed or bathe herself. She can grasp a pencil but needs help writing out the letters of her name, as she can’t control her hand movements. Becky can speak, but slowly. My family and our close friends can usually understand her speech, but someone just being introduced to her for the first time may not.

Becky can’t walk on her own and will never get married or have children. Other individuals with CP have much milder symptoms and are able to live with complete independence.

There are no specific treatments available to cure cerebral palsy itself. However, depending on the specific needs of someone with the condition, speech, occupational or physical therapy – or a combination of all three – can be very helpful. Others may have surgery, take medication, wear leg braces or use a cane or wheelchair. Adaptive technologies such as specialized computers that can help someone with severe speech difficulties are also available. It’s important to discuss these options with your child’s doctor so you can choose what’s best for your child and her particular issues. As your child grows, you can find out about specific resources for independent living, counseling and vocational programs and training in your community.

It’s important for parents to understand that CP is not progressive and that there are many options available for therapy and medication. My mother suggests that parents of children with CP “hang in there and do as much as you can while they’re young. Early intervention is important, and the sooner you start physical, occupational or speech therapy, the better.”

How will the condition affect the individual’s life going forward into adulthood? Depending on the severity of CP, adults with the condition may be able to hold jobs, get married and have families or live independently. Becky has lived in her own home for nine years and works with a team of aides who provide care.

Financial considerations and plans for the future need to be taken care of by the primary caregiver of the individual with CP. I know the day will come when I will be responsible for organizing my sister’s care, medical issues and finances when my parents are no longer around. Sometimes the thought of it is stressful, but I am grateful to have had these discussions now so I know what to do.

I certainly wish that my sister wasn’t born with cerebral palsy. But the older I get, the more I cherish the gift Becky has given my family and me. Becky has taught me sensitivity and strength. My sister has also made a huge impact on my sons. They have known since they were babies that “Auntie Becky” can’t walk or talk like we can and needs some special help. I am beyond proud that my boys have a strong appreciation for people with disabilities that defies their young ages.

Perhaps, most importantly, Becky has taught us patience and respect and to focus on what a person can do instead of what she cannot. I will be forever proud that we are sisters.

For more information about Cerebral Palsy, visit the following websites:

• United Cerebral Palsy
• March of Dimes