Osteogenesis imperfecta (OI) is a complex disorder that affects each individual and family in a unique way. The degree to which differences resulting from OI change lives depends to some extent on the type of OI the person has, the history of the disorder, the extent to which physical appearance is affected, and the personal mobility and presence of other family members who have OI. These factors may influence the way in which these individuals adjust to their community and work environment. It is, therefore, important to understand and appreciate the psychological and social aspects of OI and how they affect the individual and the family.

The Parents

The reaction of parents to the birth of a child with OI is determined by their previous experiences, although their immediate reactions may be related to the degree of visible deformity and apparent disability of the child. In families with no previous exposure to OI, initial shock and psychological immobility may be followed by feelings of anger, confusion, fear of the unknown and the future, fear of others' perceptions, loneliness, and concern about physician competence and knowledge about OI. The feeling parents most often expressed is guilt, a feeling that has added meaning when the disability is a genetic condition.

Many parents must go through a bereavement process and mourn the loss of the "normal" child they expected. In addition to coming to terms with their feelings about the disability, parents have to face the usual concerns of having a new baby as well as the physical, medical, and financial concerns relating to disability.

When the diagnosis is not made at birth, it is likely that the child will suffer repeated fractures before the OI is confirmed. The unexplained fractures may bring accusations of child abuse from health care professionals. For these parents, a diagnosis brings relief as well as vindication, although they still need to deal with their feelings about the OI.

Parents may go through a variety of phases as they come to accept their child and the child's disability. Having conflicting emotions about the baby at this time is normal, as many parents may feel the need to completely deny the disability or may need to see the disability as completely identifying the child. They also must face the problem of how to describe what is going on to their extended families. Some family members may deny the disorder, while others may overreact and show inappropriate or undue concern for the affected child. There will be variations in the length of time that it takes individual family members to come to terms with the disability. It is essential that parents realize they have limited amounts of energy and that the child is their first priority. They must set limits on how much interaction they have with the extended family if family members become too demanding of their time.

As they begin to experience full awareness of the disability and its implications, many parents feel lonely, resentful, angry, and/or sad. Eventually, however, most parents learn routines, see their children survive, and have their confidence begin to build. They also experience a sense of healing. They begin to see their child as a person "with" a disability as opposed to a disabled child. At this point, the parents begin to take control of their lives.

Parents who have difficulty moving through these normal stages of grieving should be encouraged to contact other parents of children with OI and/or seek professional assistance.

As the child begins to grow, most parents learn to cope with new fractures, although it takes an enormous amount of patience and courage. They must learn how to explain their child's limitations to others, even when they themselves are uncertain whether fractures will occur from the disorder or as part of everyday toddler activity. These parents learn to live in an atmosphere of unending crisis management.

The Siblings

The arrival of a new baby can lead to sibling rivalry in any family. These problems are magnified when the new child has OI, because caring for such a child is complicated and time-consuming. Too often, other children are unintentionally neglected. Even very young children can sense their parents' distress and preoccupation with the new baby, although they may not understand why their parents are reacting this way. Usually, older children help in feeding, changing and bathing the baby; with OI, this is usually not possible because of the extreme care that must be taken when handling a baby with OI. If the child with OI is older, he or she may not be physically able to interact with the new baby. In either case, the siblings are unable to form a physical relationship and a gap may be created between them. Many families with OI have found that one way to promote the bonding between siblings is to allow the unaffected child to hold the new baby on a pillow and feed him or her while a parent remains close by for safety.

It is very important for parents to be sensitive to the emotional needs of their unaffected children. By observing them at play and by playing with them, they can try to learn if certain situations are causing unrest in the child. If the child seems angry and frustrated, different methods of relieving that frustration, such as punching bags and kicking a ball, might help relieve tension. The parents should also set aside special times to be with the unaffected children. Although this may be difficult, this quality time is very important. It is especially important for parents to consider the feelings of a sibling who may have been the cause of a fracture. For a sibling who is already having negative feelings toward the child with OI, causing a fracture may result in feelings of guilt and remorse. As the child gets older, frank discussions can be very beneficial.

In these situations, parents need to be encouraged to reserve energy to deal with the needs of all their children, although this may never be equal. They need to weigh the complaints of siblings the same way as they would for typical sibling interactions, trying to determine what is normal and what is due to the impact of the disability. Parents must take extra precautions to ensure that all their children feel loved and appreciated and that open lines of communication exist among all family members.

The Child With OI

Early childhood

Parents generally strive throughout their childrens' formative years to teach them principles and skills that will enable them to lead self-sufficient, productive lives, as independent of parental influence as possible. For the parent of a child with OI, this can be somewhat of a challenge. While parents realize the value of teaching their children to be independent, they also tend to protect them by pulling the children closer to them. Finding the right balance is the key.

Since many children with OI experience much pain in their early years, they often become frightened of sudden movements, of being touched (especially by strangers), or by unfamiliar situations. If a parent can provide as many positive experiences in these situations as possible, the fear can be overridden with confidence. Teach your child that others can be trusted to lift or touch him.

It is important to allow others to care for your child while you leave for limited periods of time. Not only does this provide some much needed "alone" time for you as parents, but it teaches your child that he/she can function independently without you. You need to teach your child independence and you, in turn, need to let go.

Going to school

Starting school may be particularly difficult for children with OI and their parents, who must accept that the benefits of academic and social growth outweigh the physical risks. Children with OI will find it harder to realize these benefits if they are excluded from all activities and interactions with their peers.

Some parents may have difficulty working with school personnel, particularly when they have had previous negative experiences with human service providers. A particular concern of parents of mildly affected children who appear "normal," but who are at risk for fractures, is the fear that if people are aware of their child's disorder, they will treat the whole child as "different" and not just different in relation to risk of fracture. Teachers and other school personnel who lack accurate information about OI may place inappropriate and unnecessary restrictions on this child. It is best to start with a positive attitude and to provide information about OI so that these individuals can understand the child and learn the most effective methods of helping him or her in the school setting.

Adolescence

Older children who use a wheelchair are often concerned about immobility, the social problems associated with short stature, and the pain and specific immobility due to recurrent fractures, which may be more prevalent at the time of the adolescent growth spurt.

During adolescence, concerns about physical appearance and peer acceptance are heightened. Depression and feelings of inadequacy may be particularly problematic for teenagers with OI. Being shorter in stature, using an orthopedic appliance, often being encased in a cast, or having different features will be most pronounced and hurtful during the teen years.

There are many different social strategies that can be used to promote appropriate adaptation to disabling conditions like OI. Those that are self-limiting, such as withdrawal and concealment, tend to promote loss of self-esteem. One productive coping strategy is increased assertiveness, in which the individual becomes more socially active. One of the best mechanisms for promoting an adolescent's self-esteem is to foster participation in activities that interest him or her -- find out what they like, such as politics, religion, sports, painting, etc., and encourage them to pursue this interest. Adolescents should also be encouraged to engage in regular teenage activities, such as dancing. Even in a wheelchair, people with OI can enjoy the thrill of moving to different rhythms! People with OI can also participate in sports such as bowling, sailing, cross country skiing, tennis, swimming, and more.

Following high school, the transition to college or the work world is an extremely challenging time, particularly when the person is not completely independent. Balancing parental concerns and the young adult's desires for autonomy creates tension within the family. It is especially difficult for parents to think of "letting" go of a child who has always needed their help and support. Some adolescents may have a particularly difficult time breaking away because the family has done so much for them. These adolescents will benefit from thoughtful and careful counseling designed to help them through their difficult entry into adulthood and independence.

Other issues that should be addressed at this stage include dating, sexuality, marriage, and having children. While some parents may have difficulty discussing these topics with their children, it would be a mistake to treat your child's sexual development as a non-issue. Most people with OI can have satisfying sexual relationships, get married, and have children. They need to know about safe sex, sexually transmitted diseases, and AIDS. Everyone needs to learn how to take responsibility for themselves and for their partners.

Adulthood

For the individual who is severely affected by OI, problems of immobility and social and financial dependence often become most troublesome in young adulthood. Affected adults may be dependent on family, friends, and neighbors for mobility, although some of these people may be deterred from assisting those in greatest need, fearing that they will be responsible for new fractures. It is important to note, however, that with the technology that is available today, even individuals who are severely affected are able to live on their own with limited assistance from home care providers.

Less than ideal accessibility may contribute to physical and social isolation and restrict occupational and educational choices. Discrimination in the work place is sometimes prevalent, and fair financial compensation for work done is not always received. The real problems arising from the physically disabling aspects of OI, hindrances perceived by employers, acquaintances, and members of the opposite sex, place great barriers between the adult with OI and his/her life goals. Adults face the likelihood of new fractures and hospital stays. In a busy and aggressive society, they must compete on an equal basis with their physically healthy counterparts but may experience difficulty in obtaining health insurance or receiving dispensation for legitimate absences from work.

People with milder forms of OI have unique problems arising from the conflict between their outwardly normal appearance and their underlying fragility. "Who do I tell about my condition? Will it help me or hinder me to explain my absence from work related to OI by explaining the nature of the condition? When do I tell my date or my significant other?" These questions are increasingly faced by adults with OI in today's world.

The Family

For the family with OI, the ability to balance the reality of the disability and the rest of life is essential. Because of the on-going concern for and reality of recurrent bone breaks and other medical complications, families need added psychological resiliency to maintain equilibrium. Preparing a child with a disability to manage on his own requires greater thought and foresight than a non-disabled child. According to a model that was developed by Kay Harris Kriegsman, Ph.D., parents must address four factors that will help their child prepare for adulthood:

Experience: Children with disability often miss out on experiences such as riding a bike, weeding a garden, or hiking in the woods. It is important for children to feel the rain, wind, or snow.

Risk taking: Experiences such as going to a sleep away camp or a school dance are often denied to children with OI. But these types of experiences are important if the child is to learn limits and the cost of consequences.

Responsibility: When children are needed in a family they feel valued and competent. They should be assigned tasks, such as answering the telephone, wiping the dishes, or setting the table. Responsibility to the larger community is learned through volunteering for a charitable or religious organization.

Socialization: Socialization involves the give and take of normal interaction. Some children with OI are always in the spotlight and do not learn to shift attention to others. Socialization also involves learning how to deal on the same level as one's peers; sometimes, children with OI deal primarily with adults and the medical community and they miss out on the important developmental peer interactions.

The family will remain balanced if all members work as a unit and each family member accepts his or her responsibility to the family system.

Most of the information in this fact sheet was adapted from "Walking the tightrope: Juggling the psychological needs of the whole family," by Kay Harris Kriegsman, Ph.D., in Managing Osteogenesis Imperfecta: A Medical Manual, Osteogenesis Imperfecta Foundation, 1996.

This information is brought to you by the
NIH Osteoporosis and Related Bone Diseases~National Resource Center (ORBD~NRC)
and the Osteogenesis Imperfecta Foundation

National Institutes of Health
Osteoporosis and Related Bone Diseases
National Resource Center
1232 22nd St., NW
Washington, DC 20037-1292
Tel: 800/624-BONE or 202/223-0344
Fax: 202/293-2356, TYY: 202/466-4315
http://www.osteo.org
E-mail: orbdnrc@nof.org

The National Resource Center is supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases with contributions from the National Institute of Child Health and Human Development, National Institute of Dental and Craniofacial Research, National Institute of Environmental Health Sciences, NIH Office of Research on Women's Health, Office of Women's Health, PHS, and the National Institute on Aging. The Resource Center is operated by the National Osteoporosis Foundation, in collaboration with the Paget Foundation and the Osteogenesis Imperfecta Foundation.