What is de vivo disease?
de Vivo The disease is a highly unusual genetic disorder involving a transporter used to supply glucose to the brain. Patients with this condition do not receive adequate glucose reserves across the blood -brain barrier and, as a result, usually experience cognitive and neurological deficits. Usually it starts early in childhood, usually from seizures and can be difficult to control. The extreme rarity of the state is an added challenge because the research of the subject is limited because few people would benefit.
The exact origin of this condition is not well understood. Mothers usually have routine pregnancies and supplies, and at the time of birth the child may seem relatively healthy. Over time, seizures and brains can develop and the head grows more slowly. Seizures and microcephalies can be a warning that something is wrong. Care Provider may recommend medical imaging, cerebrospinal fluid testing (CSF) and routine neurological evaluation to learn more about what is happening.
DE vivo patients have a genetic mutation that interferes with the function of glucose transporter, type one. It cannot work so efficiently and the brain does not receive all the glucose it needs to work. This can cause symptoms such as seizures, walking problems, tremor and poor coordination. Patients can also experience intellectual and developmental disabilities such as difficult learning and developing critical thinking skills. Some patients need assistance technology to help them perform tasks and require accommodation at work and school to perform full potential.
One of the possibilities for the treatment of de vivo disease is a ketogenic diet for checking seizures, which consists of high -fat foods and low carbohydrates. Treatment of cognitive and neurological problems with the underling can be more challenge. Physical therapy can help patients develop strength and coordination to maintainindependence. Tutoring and other measures can help people with mental disabilities. In some cases, this condition may be complicated by the presence of other disorders that disrupt treatment or therapy.
patients with de vivo disease, along with family members, may be useful to join the support group. Support specifically for this situation is available in some local areas or through online club members, which can easily accommodate international members. In other cases, people can join organizations that deal with disorders related to the barrier of bloody threshing, seizures or other aspects of de Vivo. Such groups can offer counseling, advice, information on new treatments and general support for patients and their family members.