Rare Conditions: Tuberous Sclerosis
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.
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!