Tuberous Sclerosis and My Family
Tuberous sclerosis complex (TSC) has been a part of my family for generations. My Mom, brother, sister, niece, cousins, aunts and uncles have all been diagnosed with TSC.
The disease affects some people severely, while others are so mildly affected that it often goes undiagnosed. Among the severely affected in my family are my brother, Leivon and my niece, Jussy.
The TSC caused my brother to develop epilepsy as a baby. Even with medication, he's struggled with seizures his whole life. As a child, the TSC caused developmental delays and ADHD.
My niece also developed epilepsy when she was a baby. She takes daily medication to control the seizures, but still has 1-2 a day. She also has multiple heart and brain tumors.
What is Tuberous Sclerosis?
Tuberous sclerosis is a genetic disorder that causes benign tumors to form in many different organs, primarily in the brain, eyes, heart, kidney, skin and lungs. Although the tumors resulting from TSC are non-cancerous, they can still cause serious problems. Tumors that grow in the brain can block the flow of spinal fluid in the spaces in the brain. This can lead to behavior changes, nausea, headaches or a number of other symptoms, including seizures. In the heart, the tumors are usually largest at birth, and then their size decreases as the person gets older. These heart tumors can cause problems at birth if they are blocking the flow of blood. The tumors in the eyes are not as common, but can present problems if they grow and block too much of the retina. The tumors in the kidney can become so large they eventually take over all of the normal kidney function.
The symptoms of TSC can range from simple skin abnormalities to mental retardation.
TSC is transmitted either through genetic inheritance or as a spontaneous genetic mutation. Children have a 50 percent chance of inheriting TSC if one of their parents has this condition.
An Unknown Disease
There are approximately 1 million diagnosed cases worldwide, with about 50,000 of them being in the United States. TSC is as common as ALS (Lou Gehrig's Disease) but virtually unknown by the general population.
Have you ever heard of Tuberous Sclerosis?
Tuberous Sclerosis Symptoms
There are many Tuberous Sclerosis Symptoms. However, the most obvious are those that occur on the skin. These symptoms can include
- patches of skin lighter than the surrounding skin (my family calls them white spots)
- a patch of skin that is rough and dimpled like an orange peel
- fibrous growths around the fingernails and toenails
- tumors of the face
- tumors on the heart , which can cause abnormal heart rhythms
- brain lesions, which can cause seizures, developmental delays, or mental disabilities
- lesions, cysts or tumors on the kidney, which can cause renal failure
- pits in the teeth
Julianne Moore on TSC
Tuberous Sclerosis Treatment
Although there are many clinical trials devoted to TSC, there are no medications approved for treating it. Most of the medications used are to control the symptoms of the tumors, such as seizures and behavioral problems. So far, the only treatment available is to monitor and remove the tumors when they become obstructive.
For more information on clinical trials, please visit clinicaltrials.gov.
Tuberous Sclerosis Alliance
The Tuberous Sclerosis Alliance is the lead organization for the funding of medical research related to TSC. Such medical research has included the breakthrough discovery of two genes (TSC1 and TSC2) that are known to cause the disorder.
In 1974 four mothers of children with TSC founded the organization to provide fellowship, generate awareness, pursue more knowledge and provide hope to those who share the common bond of facing the daily challenges of TSC. During its 30 years of existence and growth, the TS Alliance has expanded its mission to improve the quality of life for individuals and families affected by tuberous sclerosis complex through the stimulation and sponsorship of research, the development of programs, support services and resource information, and the development and implementation of public and professional education programs designed to heighten awareness of TSC.
Photos and text; Â© 2011-2013 Catherine Taylor. All Rights Reserved
Reproduction in whole or in part without permission is prohibited.
My hope is that people will learn about tuberous sclerosis and want to do something to help find a cure. What's your hope?
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