Genetics Northern California

Skeletal Dysplasia Program

The Northern California Skeletal Dysplasia Program provides a forum for the diagnosis and treatment of skeletal dysplasias throughout the lifespan. Many people with skeletal dysplasias have a variety of medical and social concerns that cannot adequately be addressed by single visits with a pediatrician or internist. To meet their more complex needs, people with skeletal dysplasias require ongoing coordinated treatment by specialists in the field. For this reason, the Skeletal Dysplasia Program offers patients a unique opportunity to have all their medical needs assessed together, as a whole, by a wide variety of specialists. At clinic visits, depending on individual needs, patients are seen by providers from a wide variety of disciplines, including: genetics, orthopedics, radiology, neurology/neurosurgery, psychosocial, nutrition, nursing, head and neck surgery, physical and occupational therapy, and a representative from the Little People of America (LPA) organization. Since patients typically return to clinic at regular intervals over the years, they have the opportunity to develop working relationships with all of these different providers.

 

Our multidisciplinary approach provides the patient with both convenient and comprehensive services. The clinic visits are convenient as the patient can be seen by multiple providers at just one appointment and comprehensive because the providers they see are able to consult with one another. After seeing all the patients, the providers meet in a formal setting called the Post-Clinic Conference. At this conference each provider is able to present his/her findings and recommendations to the group. Together the group works to develop a plan tailored to the needs and situation of each individual patient. The recommendations generated from these post-clinic conferences have the benefit of multiple perspectives and the varied experiences of each of the providers attending.

 

Our goal is to optimize the physical, social, and psychological well-being of our patients by coordinating their care. After the clinic, letters are sent out to each patient detailing the recommendations made. Sometimes these recommendations require further follow-up and coordination. To support patients in their efforts to follow post-clinic recommendations, the Skeletal Dysplasia Program provides case management services provided by the clinic coordinators. Most people who participate in the Skeletal Dysplasia Program will be seen on a regular basis,  depending on individual needs. The post-clinic letters will include an approximate date for each person's next clinic visit. Patients and their families are invited to contact the Skeletal Dysplasia Program staff between clinic visits with any questions or concerns they may have.

 

Program History

The idea for a clinic specializing in the care of individuals with skeletal dysplasias in Northern California was first seriously considered at a regional conference of the Little People of America organization. Doctors from both Kaiser Permanente (Northern California) and Children's Hospital Oakland were attending the conference in order to provide consultations for LPA members in need of medical care. Recognizing the extent of the need for both expert and coordinated care for people with these relatively rare conditions, the doctors from the two medical centers decided to combine their resources to create an ongoing specialized clinic. As a result of their efforts, the Northern California Skeletal Dysplasia Program was established in September 1997 and the two hospitals continue to offer 4 joint clinics every year. In addition, Kaiser is able to offer six additional clinics. The collaboration between the two hospitals has made it possible for the combined clinics to provide care for pediatric patients from multiple health systems throughout Northern California. Kaiser's Skeletal Dysplasia Program (in conjunction with CHO) is one of five such programs in the United States, and the only one in Northern California, that offers comprehensive, coordinated medical care for people with skeletal dysplasias.

 

Information on Skeletal Dysplasias

Skeletal dysplasias are genetic disorders of skeletal growth affecting bones and cartilage. Most of the skeletal dysplasias cause short stature or dwarfism and other bone deformities. These changes in bone structure can also impact other body systems. Skeletal dysplasias tend to cause disproportionate dwarfism and do not include proportionate dwarfism due to growth hormone deficiency. Individuals with skeletal dysplasias almost always have normal intelligence.

 

Over 200 types of skeletal dysplasias have been described and classified, most being extremely rare. Below is a list of certain skeletal dysplasias followed by Kaiser Genetics. In addition, we follow patients with other skeletal dysplasias (both classified and unclassified) that are not mentioned below. Please do not hesitate to contact the clinic if you have a skeletal dysplasia that is not included in this list.

Diagnosis

Most skeletal dysplasias are diagnosed by clinical and radiological (x-ray) features.  For many conditions, the involved genes have been identified and genetic testing may be available.  Genetic testing is often used to confirm a suspected diagnosis, differentiate between two possible diagnoses, and to diagnose the skeletal dysplasia prenatally (in utero).

 

Treatment/Services

Since establishing the Northern California Skeletal Dysplasia Program in 1997, in cooperation with Children's Hospital Oakland, Kaiser Permanente has been able to offer comprehensive, state-of-the-art, care to its members with skeletal dysplasias. The clinic setting provides a forum for diagnosis and treatment of skeletal dysplasias throughout the lifespan. Our multidisciplinary approach offers patients a unique opportunity to have all their medical needs assessed together, as a whole, by a wide variety of specialists. These providers then meet together, after their evaluations, in order to discuss each individual's needs and how best to coordinate their care. The recommendations generated from these post-clinic conferences have the benefit of multiple perspectives and the varied experiences of each of the providers attending.

 

In addition to holding 10 regional clinics every year, the Northern California Skeletal Dysplasia Program provides case management services in order to coordinate care, ensure timely follow-up on recommendations and assist families with issues that come up in between clinic visits. Our goal is to optimize the physical, social, and psychological well-being of our patients and their families.

 

Some of the most difficult aspects of having a skeletal dysplasia are not the medical issues, but rather the environmental and social issues that arise for a person of short stature and/or with an orthopedic disability.  It is important to work with the family on their adjustment to the diagnosis and what that will mean for the child and their family. Individuals with skeletal dysplasias and their families should receive assistance in developing strategies for functioning in a world made for taller people. Participation in household, school, and social activities are examples of activities that may all be significantly impacted by the condition.  Stools, extenders for reaching, and extra time to get to class, are all examples of modifications that may be required.  In addition to the functional aspects, being short-statured and orthopedically handicapped carries great stigma.  It is important to help the people with skeletal dysplasias and their families to mentally and emotionally prepare themselves for the teasing, staring, and ignorance they may face and to learn coping mechanisms and reactions to these behaviors. Little People of America (LPA) is the support organization for all people of short stature and their families.  This organization can be extremely helpful in assisting with social adjustment and, more than anything else, letting people with short stature know that they are not alone in their circumstances.

 

Prenatal Diagnosis:

Prenatal diagnosis is now available for many of the more common skeletal dysplasias by DNA analysis.  Invasive tests (e.g., chorionic villi sampling and amniocentesis) can be offered early in pregnancy (before 20 weeks) when one or both parents have a skeletal dysplasia and a mutation for their condition(s) can be identified.  It can also be offered to couples who have had a previous child with the skeletal dysplasia.

 

Ultrasound is often able to detect skeletal dysplasias in utero.  Lethal and severe skeletal dysplasias may be identified in the second trimester while some of the more mild forms, such as achondroplasia, often cannot be detected until the third trimester.  Some skeletal dysplasias are not detectable by ultrasound as their features do not present until infancy or even later in childhood.  If a skeletal dysplasias noted by ultrasound, invasive prenatal testing may be offered to determine whether or not the fetus has a lethal skeletal dysplasia or to confirm a suspected diagnosis.