Most families within the rare disease community are familiar with the “diagnostic odyssey”. This term describes the long journey to receiving a diagnosis for a child with medical or developmental problems. This odyssey usually involves countless appointments with doctors, specialists, and therapists. Some of these professionals were dismissive, others oblivious, and still others concerned but confounded about what might be going on. The child may have undergone multiple imaging studies, blood tests, and many other types of medical evaluations. Hopefully, an accurate diagnosis is eventually made, bringing the long journey to a diagnosis to a close. A diagnosis provides the family answers. In many cases, the diagnosis also provides a path forward in terms of treatment.
Parents of a child with a chromosome condition rarely have such a diagnostic odyssey. The tests used to detect chromosome deletions or duplications are very accurate and are often used as a first line diagnostic tool. In other words, these tests are often ordered when the first symptoms appear. No specialized training or testing is required to order these tests. Rather, physicians recognize that chromosome abnormalities in general are a significant cause of medical and developmental problems and that the testing for these conditions is straightforward. This means a diagnosis can be made quickly, often during the newborn phase or infancy.
A diagnosis of a chromosome condition often marks the start of a new and different odyssey: the clinical odyssey. Once a family knows that a child has a chromosome condition, their focus shifts to understanding how the chromosome change may affect them. Often, there is no guidance on the best way to do this. Because chromosome abnormalities can affect a child in many different ways, the approach is usually to assess everything. Similar to the diagnostic odyssey, the clinical odyssey usually involves numerous specialist appointments, therapy sessions, imaging tests, and labs. In this way, the clinical odyssey is just as time-consuming and frustrating as the diagnostic odyssey.
One of the goals of the Chromosome 18 Clinical Research center is to shorten the clinical odyssey for the families of children with chromosome 18 abnormalities. The journey cannot be completely eliminated, but our goal is to make it more focused. Already, we have developed several tools to aid the clinical odyssey. Families can learn specifics about their child’s condition by reading the syndrome descriptions on the Chromosome 18 Registry website or by downloading the Physician Management Guides from the Chromosome 18 Clinical Research Center website.
