A couple days ago we were contacted about being on a panel to talk to 1st year medical students at Georgetown Medical School about Tuberous Sclerosis. The person who was supposed to speak couldn't make it and our names came up. The only hitch was that it was the next day so we had to move quickly to get a speech together. Rob went and gave a 20 minute speech about TSC and our family's experience.
It was such an honor to have been asked and I'm so proud of Rob for doing the speech. I was bummed that I couldn't have been there too to cheer him on though. Rob was one of a handful of people talking about various genetic disorders and it's interesting that when you are dealing with a rare disorder, a parent or patient who has chosen to educate themselves about it knows more than the average general practitioner. I'm not saying this out of conceit, it's just what we've experienced. I am in no means criticizing doctors, I'm sure TSC is briefly discussed in medical school, but what is the likelihood of ever encountering it if you aren't specializing in an area that deals with it. There are about 50,000 cases in the US, but that's still a pretty small percentage.
Being part of a discussion panel of this nature is huge because TSC is a rare disease and every mention of it helps raise awareness in some niche of life. TSC has been mentioned on a few medical TV shows and every now and then a newspaper will do an article about a child with TSC who has brain surgery, but it is still virtually unknown. One day when I say that Evan has Tuberous Sclerosis I won't be met with a puzzled look, and that's when I'll know real progress is being made in terms of awareness -- and I know that day will come.
January 26, 2008
January 23, 2008
Poke, Prick, Prod
Today was dedicated to running around with Evan to various doctor's offices. Unfortunately, they all involved poking and prodding so it was a rough day and Evan was less than happy by the time we were through with everything.
Evan is still wearing AFOs (short braces) on both feet and will continue to wear them for a while to make sure his bones in his feet form properly. We saw a lot of improvement physically in this area after surgery but not enough of a miracle to toss the braces yet. He does a lot of bad habit compensations and is really good at it. Half of the cute sitting styles he has are compensations for balance issues. Thank goodness he has great physical therapists! Since he is growing quickly, it was time to be fitted for new braces. This sounds simple enough, but it involves casting both feet. In previous visits this has culminated in wails that rock the building, so I wasn't looking forward to this appointment. He surprised us all with how well he handled the casting. He was visibly stressed about it but didn't even shed a tear. Whew!
That went well, but the next stop was a lab to get blood work done. We think Evan's Trileptal level may still be too high, so Dr. LaJoie wanted to get that checked as soon as possible. Evan has been to too many labs, remembers being in them and will slip into hysterics when we walk in the door, so this is a bit tricky. Our new theory is to never use the same lab twice. We're going to be driving to Maryland for blood tests soon! He really did well with the blood draw but was crying quite a bit and of course I had to hold him firmly so he didn't move him while they did it.
The final appointment was a well child visit with Evan's pediatrician. At this age well child equals immunizations and I had completely forgotten about that. Aria had her well child visit today too, but she won't need shots for a few years. This one was by far the hardest appointment of the day. I was holding Evan as he begged the nurse, through tears, not to give him shots. I looked at Aria and she was cowering from the experience of watching her brother. I asked her if she wanted to step out of the exam room which of course she did -- I wanted to too. I held Evan in a restrained position again as he sobbed and the nurse poked him as quickly as she could.
We left the office with stickers, lollipops and a toy for each of them. Dr. Hoang felt so bad for Evan that she came out and gave him a hug and a toy before we left. Not being one to shy away from a reward based system, we also had an outing that resulted in a new train for Evan and a ladybug habitat for Aria. It didn't make me feel any better though. I was definitely the bad guy today -- luckily the kids don't seem to see it that way. Not yet at least, it'll surface in therapy years from now!
Evan is still wearing AFOs (short braces) on both feet and will continue to wear them for a while to make sure his bones in his feet form properly. We saw a lot of improvement physically in this area after surgery but not enough of a miracle to toss the braces yet. He does a lot of bad habit compensations and is really good at it. Half of the cute sitting styles he has are compensations for balance issues. Thank goodness he has great physical therapists! Since he is growing quickly, it was time to be fitted for new braces. This sounds simple enough, but it involves casting both feet. In previous visits this has culminated in wails that rock the building, so I wasn't looking forward to this appointment. He surprised us all with how well he handled the casting. He was visibly stressed about it but didn't even shed a tear. Whew!
That went well, but the next stop was a lab to get blood work done. We think Evan's Trileptal level may still be too high, so Dr. LaJoie wanted to get that checked as soon as possible. Evan has been to too many labs, remembers being in them and will slip into hysterics when we walk in the door, so this is a bit tricky. Our new theory is to never use the same lab twice. We're going to be driving to Maryland for blood tests soon! He really did well with the blood draw but was crying quite a bit and of course I had to hold him firmly so he didn't move him while they did it.
The final appointment was a well child visit with Evan's pediatrician. At this age well child equals immunizations and I had completely forgotten about that. Aria had her well child visit today too, but she won't need shots for a few years. This one was by far the hardest appointment of the day. I was holding Evan as he begged the nurse, through tears, not to give him shots. I looked at Aria and she was cowering from the experience of watching her brother. I asked her if she wanted to step out of the exam room which of course she did -- I wanted to too. I held Evan in a restrained position again as he sobbed and the nurse poked him as quickly as she could.
We left the office with stickers, lollipops and a toy for each of them. Dr. Hoang felt so bad for Evan that she came out and gave him a hug and a toy before we left. Not being one to shy away from a reward based system, we also had an outing that resulted in a new train for Evan and a ladybug habitat for Aria. It didn't make me feel any better though. I was definitely the bad guy today -- luckily the kids don't seem to see it that way. Not yet at least, it'll surface in therapy years from now!
January 10, 2008
$4 Million for TSC Research in 2008
Our contribution to a congressional lobbying effort paid off! Last year Rob and I were part of a group lobbying Congress to raise funding for Tuberous Sclerosis Complex (TSC) research for 2008.
We visited several Congressional offices and told our story while trying to impress upon the staffers (it's rare to actually get an appointment with a Congress Representative, but the staffers have their ear) how important TSC research funding is. This is a little tricky because you have to begin with a definition since most people have never heard of it. About 50,000 people in this country have been diagnosed with TSC so it is relatively rare. Interestingly, that's about the same number of people diagnosed with Lou Gehrig's Disease.
It was a long haul, but in the end, $4 million was provided to the Department of Defense Tuberous Sclerosis Complex Research Program. The money will be used to promote innovative research focused on lessening the impact of TSC. This program is administered by the US Army Medical Research and Materiel Command through the Office of the Congressionally Directed Medical Research Programs. It's so interesting to see where funding originates.
I am so happy to know that there are strides being made and am proud that Rob and I were able to take a stab at being lobbyists. There was no funding approved for 2007, so $4 million for 2008 is a huge step in the right direction. Nobody should have to live with this debilitating condition.
We visited several Congressional offices and told our story while trying to impress upon the staffers (it's rare to actually get an appointment with a Congress Representative, but the staffers have their ear) how important TSC research funding is. This is a little tricky because you have to begin with a definition since most people have never heard of it. About 50,000 people in this country have been diagnosed with TSC so it is relatively rare. Interestingly, that's about the same number of people diagnosed with Lou Gehrig's Disease.
It was a long haul, but in the end, $4 million was provided to the Department of Defense Tuberous Sclerosis Complex Research Program. The money will be used to promote innovative research focused on lessening the impact of TSC. This program is administered by the US Army Medical Research and Materiel Command through the Office of the Congressionally Directed Medical Research Programs. It's so interesting to see where funding originates.
I am so happy to know that there are strides being made and am proud that Rob and I were able to take a stab at being lobbyists. There was no funding approved for 2007, so $4 million for 2008 is a huge step in the right direction. Nobody should have to live with this debilitating condition.
January 09, 2008
Genetic Testing
Evan is now a card carrying member of an exclusive club, the TSC1 Gene Mutation club. It is VERY exclusive but not necessarily one you'd want to join.
When Evan was in the hospital last month he had a genetic test done and although we've known for a while that Evan has Tuberous Sclerosis Complex (TSC), we didn't know, until now, which gene is involved. There are two genes that have been isolated as causing TSC when a mutation occurs, TSC1 & TSC2. The main function of these genes is to suppress tumor growth, so if one of them isn't working properly, all sorts of issues can arise. The gene mutation is dominant and can be inherited or random. We think Evan's is random because for it to be inherited, Rob or I would have to have TSC, and neither of us have any symptoms. This also means Evan has a 50% chance (remember your High School Biology section on genes?) of having a child with TSC if he decides to have kids -- a long time from now.
The gene mutation happens in utero, so people are born with it and symptoms occur at different times in life, depending on what areas of the body are affected. The most common areas for tumors to form are: brain, kidney, heart, skin & eyes. Evan had three in his brain, all of which were removed and a small tumor on one kidney. As horrible as that sounds, he really got lucky that this is the extent of the involvement. Along with the tumors often comes autism and epilepsy and Evan only has the epilepsy. We are hoping Evan's epilepsy will continue to be inactive after Dr. Weiner worked his magic in the OR!
So I guess the genetic results are informative, but it really doesn't change anything in terms of his treatment. Not yet at least. It's a huge scientific step to have isolated the genes, so maybe one day something can be done to find a cure and/or keep people from getting TSC at all.
January 03, 2008
Back to School
Evan is officially back to school. Before the winter break he started going one day a week at a Fairfax County preschool where he'll get PT and yesterday he went back to his other school. His teacher made a sign that said "Welcome Back Evan" and said it was as if Evan was never gone. He did really well in the class and had a great time.
Evan is doing really well overall and is back to driving his sister crazy, so I'd say all is well. It's really fun to watch the two of them together and they really do share a strong connection.
Evan is doing really well overall and is back to driving his sister crazy, so I'd say all is well. It's really fun to watch the two of them together and they really do share a strong connection.
January 01, 2008
Happy New Year!
It's been a crazy year and although I can't say 2007 was horrible, we don't want a repeat of it. We had a lot of great things happen throughout the year but all of it was peppered with seizures, lots of seizures. Ending the year with a seizure-free Evan is absolutely fantastic and a trend we are all looking forward to continuing!
Evan is doing really well and is continuing to improve every week. He's starting to give us a run for our money and if he decides to take off, we actually have to pick up the pace to catch him. He's a really funny kid and has us laughing all the time with his antics. It's amazing to see how much more verbal and focused he is after the surgeries.
Aria continues to impress us with her ability to take everything in stride. She is a really great big sister to Evan. She seems much older than she is when we sit back and just watch her interact with him.
As for Rob and I, we are just happy to have two healthy kids. We are all battling colds, but I'd take that over seizures any day!
Evan is doing really well and is continuing to improve every week. He's starting to give us a run for our money and if he decides to take off, we actually have to pick up the pace to catch him. He's a really funny kid and has us laughing all the time with his antics. It's amazing to see how much more verbal and focused he is after the surgeries.
Aria continues to impress us with her ability to take everything in stride. She is a really great big sister to Evan. She seems much older than she is when we sit back and just watch her interact with him.
As for Rob and I, we are just happy to have two healthy kids. We are all battling colds, but I'd take that over seizures any day!
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