What is Osteogenesis Imperfecta?
Osteogenesis imperfecta (OI) can literally be translated as imperfectly formed bones. Most forms of OI are caused by imperfectly formed bone collagen that results from a genetic defect.
Collagen is the major protein of the body's connective tissue and is the framework upon which bone and tissue are built. It can be likened to the framework around which a building is constructed. If the collagen framework is defective, the bones fracture easily, the skin is loose and transparent, and the muscles lack tone. People with OI either have less collagen than normal, or a poorer quality of collagen.
There are at least four types of OI, called types I, II, III and IV. It is believed that there are between 20,000 and 50,000 people with OI in the United States. The disorder also affects people in other countries throughout the world.
Characteristic Features
OI varies significantly according to type, and it is very difficult to predict what symptoms or complications your child will have. Please keep in mind that very few people with OI exhibit all of the following symptoms, and that the severity of each symptom can vary tremendously between individuals. Common features include:
· Bones that fracture easily
· Short stature
· Hearing loss
· Discolored, brittle teeth
· Blue sclera (blue color in the whites of the eyes)
· Skeletal deformities of limbs, chest, and skull
· Scoliosis (curvature of the spine)
· Respiratory difficulties
· Weak muscles
· Excessive sweating
· Constipation
· Tendency to bruise easily
· Loose joints and ligaments
· High-pitched voice
Genetics
It is important for you to understand that nothing you or your spouse did during conception or pregnancy caused this condition in your child. OI has been prevalent for thousands of years. Genetic counseling, which is available at most hospitals, may help you understand the type of OI your child has. If you are thinking about having more children, you should consider contacting a geneticist, who can help determine the probability of recurrence of OI in your family.
Learning That Your Child Has OI
If there was a previous history of OI in either the mother's or the father's family, you probably have some idea what to expect and how to manage the disease. You should be aware, however, that a child's symptoms and severity may differ from those of the parent with OI; that is, the child may not necessarily be affected in the same way that the father or mother was.
When you are not expecting your child to be born with a disability, it can be a terrible shock and may be very upsetting. Having a child with a disability such as OI can be very trying, and is not something that you had ever thought could happen. Don't be ashamed to cry and express your disappointment to friends and loved ones. As with any grieving process, you will most likely find yourself repeatedly going through stages such as refusal to believe there is a problem, anger and/or looking for someone to blame, depression and, finally, acceptance. There are many excellent books available that deal with the birth of a child with a disability that you may find helpful.
Most psychiatrists agree that parents of children with disabilities will benefit from joining with other parents whose children have similar problems. Our hope at the Osteogenesis Imperfecta Foundation is to provide you not only with information, but with a support network of others who are grappling with, or have solved, some of the same issues that you will be facing.
If you have not already done so, you will need to contact a pediatrician and an orthopedic surgeon. It will be worthwhile to find doctors whom you trust and with whom you will be able to work closely, preferably those with experience treating patients with OI. The OI Foundation's physician referral list is available to assist you in locating a doctor. Many OI families find that their doctors become like members of the family. Eventually, you may find it necessary to take your child to a physiatrist (a habilitation and rehabilitation specialist). Physical and occupational therapists can help your child develop muscle tone, strength, and cognitive skills. Social workers who work with children with disabilities may also be helpful with family and marital difficulties should they arise.
It would be wise to evaluate your health insurance coverage. OI can become very expensive, and the financial strain can often become as burdensome to a family as the health problems. There are many organizations and clinics that help with some of the costs associated with birth defects. One organization is the Shriners Hospitals for Children, which provides free medical services to those who qualify. Medical services vary greatly from state to state; check with your local and state governments to determine what is available in your area.
One note of caution: Because awareness about child abuse is rising, it is not uncommon for parents of children with OI to be mistakenly suspected of this crime. When you find it necessary to seek medical help away from your regular doctor, be prepared to answer questions about your child's condition calmly and with understanding. A physician's primary concern is usually the overall welfare of the child, and knowledge of OI is not as widespread as we all would like it to be. It is a good idea to carry a letter from your doctor with you at all times, stating that your child has a diagnosis of OI and explaining what that means. Many parents also carry a copy of this letter in the glove compartment of the car. When you travel, carrying copies of your child's medical records can alleviate many potential problems.
Taking Care of a Child with OI
In most ways, caring for the child with OI is just like caring for any child. There are, however, a few precautions and tips unique to handling babies with OI that we would like to share with you.
Car Seats and Strollers
You will need a car seat to take your baby home from the hospital. Look for an infant seat that reclines as much as possible, with careful consideration of how easily the child can be placed into or removed from the seat. You may want to pad the seat with egg crate foam, available from medical supply stores, or one-inch foam, available from fabric stores. In addition to lining the bottom of the seat, place a layer of foam between the harnesses and the child for extra protection.
As with any child, it is important that the child with OI be safely confined in an approved car seat placed in the back seat. For maximum safety, never place an infant or child car seat in the front passenger seat--airbags can be dangerous, especially for children with OI.
For when the child is able to sit up, Snug Seat manufactures an excellent car seat for toddlers with OI. The seat is adjustable to accommodate the child when he or she is in a spica cast (a cast that goes up over the child's hip).
As with your car seat, you will need a stroller that reclines considerably and is wide enough to accommodate casts. Fisher Price manufactures a three-wheeled stroller that many parents have used very successfully. Sling or umbrella-type strollers are unsuitable because they lack leg support and provide poor positioning of the spine and head.
Handling
Common sense is the best guide when handling a child with OI. Remember that the bones are very fragile and can break with little or no pressure. Be especially careful of the long bones in the body, i.e., the arms, legs, and ribs. You should not lift your baby under the armpits or pull on his/her arms or legs. When you change diapers, lift the baby by the buttocks and not by the ankles, as is customarily done. Spread your fingers apart as far as possible, and put your hand under the buttocks, with your forearm under the baby's legs to prevent them from dangling. To lift the baby onto your shoulder, or carry the baby, use the same technique, but with one hand behind the head and the other behind the buttocks, again with fingers spread as far as possible. When lifting or moving your child, be careful that little fingers and toes do not get caught on clothing you are wearing, such as shirts or blouses that button down the front. Many parents find it helpful to insert a piece of egg crate foam rubber or a thick piece of foam rubber into a pillowcase and use this to transport the baby. Some parents use a pillow. This type of support can also be used as a base when holding the baby.
It is usually best to avoid lifting or moving a child with a painful fracture as much as possible. After some degree of healing occurs, the fracture will be less painful and moving your child will be easier. Unfortunately, leaving your child in one position for a long time can cause skin rashes and sores. Putting a child in different positions not only prevents these problems, but helps the child develop different sets of muscles, which is important for later mobility. Some parents have found the following method for shifting a baby from their stomach to their back, or vice versa, to be very useful when conventional methods cause discomfort:
This procedure is best accomplished by two people. Position the baby on his/her back on a pillow or a covered piece of foam rubber. Turn the baby's head to one side. Then place a second pillow or piece of foam on top of the baby, sandwiching the child. With one person at the baby's head and the other person at the feet, each person places one hand under the bottom pillow and the other hand on top of the upper pillow and, at the count of three, the child is flipped onto his/her tummy. Be sure both participants agree beforehand on the direction that the baby will be turned. This method, although a little awkward, provides you with a way to change the baby's position without causing unnecessary discomfort.
When lifting your child, remember to use good body mechanics to prevent back injury to yourself. Always have the child as close to you as possible before beginning to lift. Flex your knees slightly and lift with the legs instead of the back.
Do not be afraid to show affection to your child by cuddling, rocking, touching, and talking to him or her. Frequent stimulation is necessary for sound emotional and social development.
Clothing
Children with OI are frequently affected by warm temperatures and are often bothered by excessive sweating. Lightweight, cotton clothing seems to be the most comfortable. Look for clothes with buttons or snaps down the front and at the crotch. Many parents fashion cast underwear by placing snaps or Velcro at the crotch of their child's underwear to simplify toileting.
Since children with OI generally do not outgrow their clothes as quickly as other children, many parents feel that it helps to increase the child's self esteem to invest in current styles and fashions. A positive self-image for a child with OI is sufficiently difficult without having the child feeling self-conscious about his or her clothes.
