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Watch more Epilepsy & Seizure Disorders videos: http://www.howcast.com/videos/....502039-What-Is-Tuber
Patty McGoldrick: There is a syndrome, Tuber Sclerosis, that's a genetic disorder that's associated with legions on the skin, birth marks, as well as lesions in the brain, seizures, autism, developmental delays. The children that are diagnosed with it can also have problems with their kidneys, problems with their heart, problems with their eyes.
Steve Wolf: This is an important diagnosis to make early on. This is a genetic disorder that can happen for really no reason. Occasionally can happen in a family...
Patty: In a family...
Steve: with patients with Tuber Sclerosis. If you make the diagnosis early, there are a bunch of things that need to be monitored, as Patty had mentioned, involving the eye and the kidneys. And it's important to get the seizures under control because it could affect cognition and development.
Patty: Now often these children present with seizures at a very early age in infancy. There's something called infantile spasms, that consists of these very specific seizures with the head drops, and arms up. They were called in the past salaam seizures, because they almost look like the child was bowing. These need to be controlled early on, as soon as possible, to prevent regression and developmental delay, as well as managing the rest of the Tuber Sclerosis.
Steve: There are a number of medications that are really good for treating Tuber Sclerosis, as well as epilepsy surgery is also very effective in patients with Tuber Sclerosis.
Patty: So Tuber Sclerosis, lesions in the brain, skin abnormalities, cardiac, eye, kidney effects, high incidence of autism, and a high incidence of infantile spasms.
Steve: There's a very good website, called Tuber Sclerosis Alliance, which has a lot of excellent information about Tuber Sclerosis, that you might find very helpful.
Patty: And the people affiliated with the TS Alliance have centers where these children are managed in a sort of medical home setting.


Tuberous sclerosis Symptoms – Causes Treatment Signs and Symptoms of Tuberous sclerosis.
What is tuberous sclerosis? How to identify signs symptoms of Tuberous sclerosis
with pictures images photos in men women with types diagnosis prevention and treatment options.
Signs and symptoms of tuberous sclerosis with photos images and pictures in males females children and elderly.
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Hi guys. This may not be what you expected when you first subscribed to my channel but I felt a desire in my heart to share my IVF journey with you ♡
One of the most common reasons to do IVF is due to infertility or difficulty getting pregnant naturally. Well, my husband and I are undergoing treatment for a different reason: genetic screening. You see, I have a genetic condition called Tuberous Sclerosis Complex, or TSC. TSC can cause seizures, developmental delay, intellectual disability, autism and more. There's a 50% chance that I can pass it on to our children and unfortunately there's no cure for it. What we can do, though, is screen our embryos through IVF which is why I made this video.
The process of identifying my TSC mutation has been a very long rollercoaster ride but I'm hopeful that we're one step closer to knowing that we can have healthy babies. If you're in a similar situation, know that you're not alone.
I'm hoping to write accompanying blog posts to follow my IVF progress. I'll update the description with a link once it's ready.
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As always, thank you for watching and subscribing!
🔔 Subscribe: https://www.youtube.com/channe....l/UCz3-Qy2WylxXccV7S
Karol💋


Professor Petrus de Vries, from The University of Cape Town, gives a presentation to families affected by Tuberous Sclerosis Complex (TSC).
Recorded at the 2013 Family Conference of the Australasian Tuberous Sclerosis Society. Find out more at www.atss.org.au


In this video, Howard Weiner, from Texas Children's Hospital presents on Epilepsy Surgery for Children with Tuberous Sclerosis Complex.
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