Tuberous Sclerosis

Well this is Linc's official diagnosis. He has been afflicted with Infantile Spasms due to Tuberous Sclerosis. A pretty bad diagnosis unfortunately, but luckily it is not fatal. He was diagnosed with the Infantile Spasms via a 24 hour video EEG, which was then followed up with an MRI to diagnose the Tuberous Sclerosis earlier this week. Andy and I have spent the remainder of this week meeting with our pediatrian and pediatric neurologist to discuss the ramifications, and then coming to grips with the reality of this disease.

What is Tuberous Sclerosis?
Well it is a rare genetic disease that can cause uninhibited growth of cells. These tumors are benign but can cause significant developmental and medical difficulties none-the-less. The tumors can effect all of the body's major organs, but those most usually affected by this rare genetic disease are the brain, heart, kidneys, skin, and eyes. Because there is no cure, this will be a lifelong condition for Linc. He will always have an army of doctors, and most likely therapists following him around. But he will be in good hands if Andy and I have anything to say about it.

Wait a minute...TSC is genetic?
TSC is a mutation of a gene on one of 2 chromosomes. In 2/3 of all TSC cases the patient is the first incidence, which means that it mutation occured early on in devleopment of the fetus. In the other 1/3 of cases the mutation is passed down froma parent. Because TSC can present in many different forms and severities, a person can be walking around with the disease and not know it. In somes cases, although rarely, many generations can carry TSC and be unaware until it presents itself in a more serious form. We will at some point within the next couple of months be doing genetic testing on Linc to determine which mutation he has, and then we will meet with a genetic counselor to determine our risk of carrying this disease and passing it to other possible future children. We obviously are really hoping that neither of us carry TSC and that we may be able to have more children who will be unaffected by TSC.

What does TSC mean for Linc in the future?
Well...it means that Linc will very likely have learning delays, and permanent cognitive impairment. We are waiting on some medications from Canada (because it isn't approved in the US) to help control the Infantile Spasms, which will be a good step in the right direction. We have appointments with a pediatric cardiologist in mid-October, and an appointment with a pediatric opthamologist and an appointment at the hospital for a kidney ultrasound this coming Tuesday. Although, at this stage in Linc's life these other organs are less of a medical concern, it will be good to get a baseline on his tumors.

The real issue is his brain, and how severly that is affected. When we spoke to Dr. F she said that there were some good things, and some bad things going on. She said that his MRI showed A LOT of tubers in his brain, and some of them were in a bad place. She said that he may need brain surgery at some point in his life to remove the poorly placed ones if they begin to block the flow of fluid. She also said that he was lucky that most of the tubers were very small and not likely to grow anymore. Then she went on to say that clinically (what we observe) he is a perfectly normal 2 month old developmentally, which is good, but that his Infantile Spasms started very early, which is bad. So really, she is thinking that he will fall into the moderate to severe retardation category, as opposed to the none-mild category. She said that anything is possible however, and it is our job as his parents to keep hoping and striving for that next developmental goal. She said that maybe 10 years from now, Linc will walk into her office and tell her all about his successes.

In order to make our lives easier we are hoping to achieve 4 things: walking, talking, eating and pooping, all without assitance from us. Dr. F said that she could not promise that, but that those things, and even more were very likely. I told her about my sister and that she functions at a 2nd grade level. I asked her if something like that would be possible. She said that is was. So Andy and I left that appointment with hope that Linc could end up being a somewhat functioning member of society someday. We know that it is going to be a long difficult road for us to obtain that future, but we will do what we need to in order help Linc out the most that we can and give him the best possible life.

Here are some reference websites:
http://www.tsalliance.org/
http://www.massgeneral.org/livingwithtsc/
http://www.ninds.nih.gov/disorders/tuberous_sclerosis/detail_tuberous_sclerosis.htm
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1464162