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Tuberous Sclerosis

Updated on December 3, 2013

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.

tsc gene dna
tsc gene dna

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?

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symptom of tsc
symptom of tsc

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
Other symptoms can include

  • 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
Some children with TSC, usually those who have a mental disability, are also diagnosed with autism. Occasionally, individuals with TSC are also diagnosed with schizophrenia, bipolar disease (manic depression), depression, or other psychiatric disorders.

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.

TS Alliance
TS Alliance

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; © 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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    • rattie lm profile image

      rattie lm 3 years ago

      This is a sad but praiseworthy lens. It takes courage to write about an issue that is so close to the heart. Best wishes.

    • profile image

      anonymous 4 years ago

      My hope is that you get to see the day that a cure is found. You and your family are in my prayers. Thank you for sharing.

    • Dianne Loomos profile image

      Dianne Loomos 5 years ago

      I had never heard of this condition until reading your page. Congrats on a well deserved purple star!

    • Susan300 profile image

      Susan300 5 years ago

      Congratulations on your Purple Star for this page! :)

    • CCGAL profile image

      CCGAL 5 years ago

      I admit that prior to this reading, I was not aware of the condition Tuberous Sclerosis. I hope your walk for the cure raises a lot of money to help find a cure.

    • Lee Hansen profile image

      Lee Hansen 5 years ago from Vermont

      I had never heard of this genetic illness before reading this lens. I hope the quest for a cure is swift and successful. Thanks for writing this and making more folks aware.

    • Virginia Allain profile image

      Virginia Allain 5 years ago from Central Florida

      I'd not heard of this before. How terrible. Best wishes to your family with tuberous sclerosis.

    • CrossCreations profile image

      Carolan Ross 5 years ago from St. Louis, MO

      I'd never heard of tuberous sclerosis. You've done an excellent jog here in the description, very thorough and well-formatted. Prayers sent for support and a cure. Blessed.

    • Nancy Hardin profile image

      Nancy Carol Brown Hardin 5 years ago from Las Vegas, NV

      I hope for a cure with all my heart. This is a terrible illness that strikes like a thief in the night, robbing someone of their most prized possession, their health. Blessed by a SquidAngel, and thanks for bringing this condition into the light.

    • chezchazz profile image

      Chazz 5 years ago from New York

      Blessed and lensrolled to "Wing-ing it on Squidoo," a tribute to some of the best lenses I've found since donning my wings.

    • Coreena Jolene profile image

      Coreena Jolene 5 years ago

      Very informative. I have never heard of this disease. I hope some day the medical community can do more to treat and even cure the disease.

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