People affected by rare diseases often find it difficult to find adequate treatment for their conditions. Due to the rarity of their diseases, there are often no doctors who specialize in their condition available to them, whether it is because of distance or something else. UCLA aims to change this problem by offering virtual care. Shafali Jeste, who directs the Care and Research in Neurogenetics Clinic, developed this program for those who would benefit from early intervention programs. The Crawford family is one of many who have benefited from virtual care, as their son John has tuberous sclerosis.
About Tuberous Sclerosis
Tuberous sclerosis is a disorder that is characterized by the growth of noncancerous tumors throughout the body. This disorder contains a wide variety of symptoms, and it has a wide range of severity. Some people may have mild symptoms, which would lead to a diagnosis later in life, while others have very severe symptoms and are diagnosed during infancy. This disease has also been linked to a higher chance of autism.
Tuberous sclerosis is the result of inheritance or an error in cell division. A parent who also has this disorder can pass it down to a child, or a random mutation can occur that results in tuberous sclerosis. Both of these causes have to do with the TSC1 or TSC2 genes, which are the genes that result in tuberous sclerosis.
Symptoms of this disorder are a result of the tumors, which most commonly grow in the kidneys, brain, eyes, heart, lungs, and skin. The size and location of the tumors can affect the severity of the symptoms. These symptoms include skin abnormalities, seizures, cognitive disabilities, behavioral problems, kidney problems, heart issues, lung problems, and abnormalities in the eyes. Depending on the size and location of the tumors, life-threatening complications can occur. Tumors can block the flow of cerebral spine fluid, which then creates an excess of fluid in and around the brain. Tumors in the heart can cause heart issues like dysrhythmia. Lung failure is a possibility if tumors grow in the lungs, and vision damage can happen if they grow in the eyes. There is also a higher possibility of developing malignant tumors in the brain or kidneys.
In order to reach a diagnosis, a physical examination and a discussion of symptoms and family history must occur. Doctors will look for the benign tumors that are associated with tuberous sclerosis. Tests will be ordered in order to locate and assess the severity of the tumors. Genetic tests may be ordered as well. Specialists will often be ordered for the effected organs.
There is no cure for this disorder, but there are treatments available to manage the symptoms. Medications can be prescribed to help many of the symptoms, including seizures. Surgeries can remove growths if they become harmful. Speech, occupational, and physical therapy may also help if the tumors cause issues in these areas. As tumors in the brain can cause developmental delays, educational services and psychiatric or behavior management may also be helpful.
The Care and Research in Neurogenetics Clinic of UCLA has created a virtual care program in order to provide better treatment for those who do not have access to hospitals or specialists. This program focuses on early intervention, which is very helpful for those who have autism or related conditions.
Video calls allow therapists to teach play-based therapies and talk to children and their families. These sessions can then be played back so that parents can continuously use them as a resource. This type of care has been proven to help development in those with autism and other conditions.
Brandon Crawford and his son John have both seen the benefits of this program. They live in Arkansas, and they are not close enough to large hospitals or specialists to receive the care that John needs for tuberous sclerosis. When they heard about the virtual care program, they immediately agreed. Brandon feels that it has already made a positive impact on his son’s development.
The Crawfords and other families from across the country are participating in the study of virtual care, which will continue for 21 months. They will only have to make the trip to UCLA six times over the course of the study, which is anticipated to end in 2022. Hopefully this new program will allow for better care for those who are isolated from the healthcare they need.
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