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Early Intervention Speech Therapy

Rare Conditions: Tuberous Sclerosis

Published September 24, 2013 8:00 AM by Stephanie Bruno-Dowling

Last week, I wrote a post suggesting various ways to prepare yourself when working with a child diagnosed with a rare condition, especially if you are not familiar with the disorder/ailment.  Although I do support what I wrote last week, this week I would like to take my advice one step further adding that I also believe there is no real substitute for hands-on experience.

I am currently treating a child who has been diagnosed with tuberous sclerosis. This is not a condition I am familiar with and have been spending time following the steps I recommended last week to prepare and create a treatment plan that makes sense for this child. I have read the child's file, I have spoken with/interviewed the mother, I have researched the diagnosis on my own and I have spoken with the occupational therapist who has been working with the child for over a year now.  I feel I now have some book knowledge to apply to the case, but I also know that the true understanding of this condition and the child's needs won't be fully comprehended until I have spent time in their presence, getting to know them and the characteristics that are uniquely theirs.

For those of you unfamiliar with this diagnosis, I wanted to take some time to share information that I found in my research about it and how it can potentially affect a child ages 0-5:

The definition of Tuberous Sclerosis, according to the Mayo Clinic website is as follows:

Tuberous sclerosis (TWO-bur-uhs skluh-ROW-sis) complex is a rare genetic disease that causes noncancerous (benign) lesions to grow in many parts of the body, such as the skin, brain and kidneys. The signs and symptoms of tuberous sclerosis vary - from patches of light-colored skin to seizures or behavior problems - depending on where the lesions develop.

Tuberous sclerosis is often detected during infancy or childhood. Some people with tuberous sclerosis have such mild signs and symptoms that the condition isn't diagnosed until adulthood, or it goes undiagnosed. Others experience serious disabilities.

There's no cure for tuberous sclerosis, and there's no way to predict the course or severity of the disease. With appropriate treatment, however, many people who have tuberous sclerosis lead full, productive lives.

Symptoms:

Tuberous sclerosis symptoms include noncancerous lesions that grow in many parts of the body, such as in the skin, brain and kidneys. Lesions may be referred to as hamartias or hamartomas. Sometimes lesions grow in other parts of the nervous system or in the heart, lungs or the light-sensitive tissue at the back of the eye (retina). Tuberous sclerosis signs and symptoms vary, depending on where the lesions develop:

•Skin abnormalities. Many people who have tuberous sclerosis develop patches of light-colored skin, areas of thickened skin, or growths under or around the nails. Facial lesions that resemble acne also are common.

•Neurological symptoms. Lesions in the brain can be associated with seizures, intellectual disability, learning disabilities or developmental delays. Behavior problems, such as hyperactivity and aggression, may occur. Some children who have tuberous sclerosis have trouble with communication and social interaction, and in some cases may be autistic.

•Kidney problems. If lesions develop in the kidneys, potentially serious - even life-threatening - kidney problems are possible. Rarely, kidney lesions may become cancerous.

•Lung problems. Lesions that develop in the lungs (pulmonary leiomyomas) may cause coughing or shortness of breath. Progression to lung failure during adulthood is possible.

For some people, the signs and symptoms of tuberous sclerosis are noticed at birth. For others, the first signs and symptoms of tuberous sclerosis become evident during childhood or even years later.

For the complete article, visit the following link: http://www.mayoclinic.com/health/tuberous-sclerosis/DS01032/METHOD=print

If you know anyone or have worked with anyone with this diagnosis,

please share your experience!

4 comments

Stephanie,

Thank you for you interest in learning more about tuberous sclerosis complex (TSC) and how to most effectively assist your clients in developing communication.

My 16 year old son has TSC and he is functionally nonverbal.  Over the years I have learned a lot about how complex the motor portion of speech is and how varied the processing issues of TSC can be.  I would suggest that a total communication approach always be employed.  Begin, always, with the assumption of competence and use augmentative communication tools creatively ;)

Debora October 27, 2013 12:10 PM
AZ

My six month old has tuberous sclerosis. He was diagnosed at two weeks old when following up on a heart murmur. He has many small heart tumors, and started having infantile spams (very common in babies and toddlers with TSC. I had never heard of TSC prior to his diagnosis. I just wanted to say thanks for writing about it!. Everyday is a learning process for me as a mom as well.

Stephanie October 6, 2013 7:21 AM
OH

Rebecca, thank you so very much for writing in and for sharing about your daughter, as well as these additional resources. I will definitely look into these....I want to learn more about it and would like to write more posts about the condition. Thank you!

stephanie dowling, blog author September 27, 2013 10:51 PM

Hi, My daughter was born with this rare condition. The greatest lesson in Tuberous Sclerosis Complex (TSC) is the varying degrees of which the disorder effects a person and the unpredictability of the disease. Disease severity can vary even between identical twins. I would recommend two things: 1) Visit www.tsalliance.org; 2) Contact Dena Hook of the TS Alliance (she can be found at above link) by phone or email. The TS Alliance is the best place to receive information about TSC. The Mayo Clinic site is not up to date and honestly is not a great place to get information regarding this particular disorder. Dena Hook is the educational consultant for the TS Alliance (the national organization dedicated to research, clinical guidelines, and outreach). She has a program for teachers and clinicians that is a mentoring program. She can get another clinician in touch with you who has first hand experience. Your diligence is admirable. Best of luck and feel free to contact me of you have any questions. I can give you some information from the other end--a mother of a young girl with TSC who has multiple specialists and clinicians helping her.  -Rebecca

Rebecca September 24, 2013 1:08 PM

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About this Blog


    Stephanie Bruno Dowling, M.S. CCC-SLP
    Occupation: Speech-Language Pathologist
    Setting: Early Intervention in Delaware County, PA
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