Clinic Day Experience
When you arrive on clinic day, you will register at the window in the waiting room on the 7th floor. You will soon be greeted by one of the Skeletal Dysplasia Program staff who will escort you to your assigned exam room, stopping briefly for measuring height, weight, and head circumference and photo taking. Once in your room, you may make yourself comfortable while waiting to be seen by the providers who have been assigned to you. You do not need to change rooms in order to see the different providers; they come to you. The providers come to see you in a rotation that depends on availability. It is a good idea to leave your door open between provider visits in order to let other providers know that you are available. By rotating from room to room, the providers end up seeing all their patients. Of course, some patients and providers will take longer than others. This usually means that there will be waiting time between provider visits. Which providers you see depends on individual need, so not every patient sees every provider. A full clinic visit can take anywhere from 1 to 2 1/2 hours. We recommend that you plan for this by bringing books, games, and/or snacks to your visit. You may also want to visit with some of the other patients between their visits. Clinics are often a good opportunity to get to know other people with skeletal dysplasias.
The Medical Specialties Available on Clinic Day:
The geneticists share their expertise to diagnose and offer the most accurate prognosis for each patient's specific condition. The genetic counselors help patients and families understand the way heredity does or does not contribute to skeletal dysplasia conditions. They discuss the risks for the condition to occur in other family members and coordinate further genetic testing when indicated and available.
After clinical exams, radiological findings are the key to diagnosing the majority of skeletal dysplasia conditions. In most cases, x-ray films are all that are needed to identify a particular diagnosis, but only when reviewed by a radiologist experienced with the wide variety of skeletal dysplasias possible. We are fortunate to have one of the top radiologists in the field, Dr. Ralph Lachman of the Cedars-Sinai International Skeletal Dysplasia Registry, to assist with the diagnosis of patients at our clinics. Radiologists are also important in helping identify the cause of pain because, at times, neurological or physical impairment can only be identified through diagnostic imaging.
The orthopedic surgeons specialize in problems with the bones, including kyphosis and scoliosis (curvatures of the spine), hip dysplasia, knock knees, bowed legs, and fractures. They will evaluate any orthopedic problems, recommend treatment and perform surgery if necessary.
The physical therapists evaluate patients' physical functioning and make recommendations regarding therapy or exercises to improve mobility, strength, and pain management. They also work to prevent disability by identifying and recommending physical activities that are safe and productive for the patient. Such evaluations are often necessary for people with skeletal dysplasias due to the neurologic and orthopedic complications that may arise. Physical therapists also make recommendations and fit patients for mobility devices, such as wheelchairs, walkers and scooters.
The occupational therapists evaluate patients' ability to perform activities of daily living (e.g., work, self-care, and play). Due to the neurological and orthopedic complications that affect many individuals with skeletal dysplasias, occupational therapy may be recommended to help patients increase their independence. Recommendations may include adaptations to the methods (i.e., how a task is performed) and/other environment (i.e., where the task is performed) as well as special equipment to assist with the task.
Each patient receives an initial neurologic evaluation to determine their level of function and assess for any signs of neurologic deficit or pain. If indicated, diagnostic imaging (e.g., MRIs, CT scans, etc.) may be ordered for further evaluation. When a patient show signs of significant impairment, the neurosurgeon will monitor them closely to determine the need for surgery. Neurologic problems that individuals with skeletal dysplasias may develop include hydrocephalus, spinal cord compression, and nerve damage due to instability of the cervical (neck) spinal cord.
Head and Neck Surgery (aka Ear, Nose and Throat)
Children with skeletal dysplasias are at an increased risk to develop recurrent ear and upper respiratory infections and sleep apnea due to differences in head and face structure. Children often times require the placement of ear tubes to facilitate drainage and the removal of tonsils and adenoids to minimize airway obstruction. The HNS physician can monitor children in the early stages of development and coordinate interventions so as to prevent or minimize possible permanent damage to the internal ear, which can lead to hearing loss and/or speech delay.
Individuals with skeletal dysplasias often struggle with weight management because they have a similar appetite to people of normal stature, but smaller bodies to fill. Our nutritionist works with patients of all ages. Starting in infancy, the nutritionist helps parents with feeding issues and questions about transitioning to solid foods. Once the child begins eating solid foods, the nutritionist works with parents to develop healthy low fat diets in order to establish appropriate eating habits early on. With teens and adults, the nutritionist works directly with the patient to guide them toward good choices and assist with weight management.
The clinic nurse weighs and measures all patients in order to monitor each patient's growth and provide critical information for the genetics and nutrition assessments. The nurse also evaluates the developmental skills of the younger patients. Developmental milestones in children with skeletal dysplasias are often different than those of average-statured children. The nurse assesses a child to determine if he falls within the limits of normal for children with his specific type of skeletal dysplasia. This assessment, along with other clinical information, allows the clinic team to determine appropriate therapies and intervention.
There are many psychosocial challenges for the patient and family that often accompany the diagnosis of a skeletal dysplasia. The first challenge is often learning to accept a child with difference. Our psychologist, social worker, and genetic counselors assist patients and families with understanding the realities of living with a skeletal dysplasia and help connect them with support organizations, such as the Little People of America (LPA), and other resources (e.g., California Children's Services, Regional Center, etc.).
Little People of America (LPA) Representative
A representative of the local chapter of the LPA organization is available at each clinic for families to meet. This individual is a parent of a little person and can serve as a resource for new parents who are adapting to the diagnosis of a skeletal dysplasia within the family. This representative is also able to talk to families about the opportunities that involvement in LPA offers. The LPA representative is also a great resource for ideas about adapting the home and school environments to fit a little person as well as managing the health care and social services systems. More information about LPA is available online at www.lpaonline.org.
The Kaiser Regional Skeletal Dysplasia Clinic is run by clinic coordinators who provide case management. This means that, in addition to organizing clinic days, the coordinators follow patient care between visits in order to ensure that clinic recommendations are acted upon in a timely manner. The coordinators are also available throughout the year to help patients and their families with any needs, questions, or concerns that arise between clinics as well as to provide emotional support.
What Types of Services May You Be Referred To?
After you leave on clinic day, all the providers meet together in a formal setting called the Post-Clinic Conference. Together the group works to develop a plan tailored to the needs and situation of each particular patient. These recommendations will be sent to you by mail and sometimes they include referrals. Many different types of referrals can be made. You may be referred to any of the following: (1) to the same provider who met with you on clinic day for a separate office consultation, (2) to a different provider of the same discipline that you saw on clinic day (e.g., a physical therapist nearer your home), or (3) disciplines not included in the clinic visits. Examples of disciplines not offered at the clinic visits include:
Audiology and Speech
Due to the increased propensity for ear infections and to bony abnormalities associated with some skeletal dysplasias, children with skeletal dysplasias may be at risk for hearing loss, which in turn may affect the development of speech. The Skeletal Dysplasia Clinic refers the majority of young patients for baseline and repeat audiological evaluations to assess for possible hearing loss. Hearing loss, along with dental problems, can lead to speech delay or difficulties. Children who show signs of speech delay or are at risk can be referred to speech therapy in their local area for evaluation and, if necessary, ongoing therapy.
Children with skeletal dysplasias often have parts of their craniofacial structure that are smaller than average. This can lead to crowding of the teeth and an abnormal bite requiring orthodontic intervention. Some skeletal dysplasia conditions result in abnormal or fragile teeth that require special assessment by a pediatric dentist or maxillofacial surgeon. The Kaiser Genetics Department also runs a Craniofacial Clinic that patients may be referred to for further evaluation.
Some skeletal dysplasias, especially those due to collagen defects, can include eye problems, such as myopia and retinal detachment. Patients who are at risk for developing eye/vision problems are referred by the clinic to ophthalmology at their local Kaiser facility to be followed.
Patients with skeletal dysplasias are often at risk to develop obstructive or central sleep apnea. Apnea is a temporary cessation of breathing, often occurring during times of sleep. Central apnea is caused by a neurologic impairment and obstructive apnea is caused by obstruction of the airways. In individuals with skeletal dysplasias, central apnea can be caused due to constriction at the craniocervical (head and neck) junction or chest constriction (small chest size). Obstructive apnea can be due to intrinsically small airways, redundant (extra) pharyngeal soft tissue, and large tonsils and/or adenoids. At-risk patients are referred to pulmonology for a sleep study to monitor their breathing during sleep. If a patient has an abnormal sleep study, he/she will be assessed by the pulmonologist and head and neck surgeon to determine what may be interfering with their breathing and plan for intervention, if necessary.
How to Contact Us
The Kaiser Regional Skeletal Dysplasia Program is located in the Kaiser Oakland Genetics Department, 7th floor, Mosswood Building, 3505 Broadway, Oakland, CA 94611
General Program Phone Line: 510-752-6839
Program Fax: 510-752-6367
Ericka Okenfuss, MS and Deirdre Popplewell, MSN, RN