10 weeks old!

Well, we started the Sabril drugs on Oct. 1st in the evening. He took one dose that evening, had one more seizure as he was falling asleep for the night, and that was the last one that we have seen. He has gone 2 full days without a visible seizure! Yay! We hope that the drugs continue to hold the seizures at bay.

Here are some of our play time pictures from today.

I will narrate for him...

Ugh. My head is sooo heavy.

This pillow is really close to my face. It must be food!

I am gonna eat you pillow-thingy!

Look how strong I am!

Stop tickling me mom!

Really? You are so weird mommy.

I am a cheerful baby. Look at how happy I am!

Aren't I handsome? I bet you wanna kiss me...



Here is a video of mommy playing with me today!

Picture Time

Here are some more pictures from this past week. I can't believe that he is 2 months old already!

Some from our stay in the hospital. None of us enjoyed the time we spent there very much. And we got to take home a cold for our souvenir. Yay!

So happy to be home! We all slept like 12 hours!!

The official 2 month old pictures!

Here is the 1 month comparison.

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

Update

Lincoln isn't reacting to the medicine as well as we hoped. He still has about 6 seizures per day, but they are shorter. We have a 24 hr EEG coming up on Monday. The Doctors hope that we can identify what is causing his seizures and get him on better medicine. On Wednesday we are going to get an MRI that will tell us if he has structural problems with his brain. We really hope that these tests will give us an idea of what we are dealing with.

Linc is so cute. He seems perfectly happy and normal when he isn't having seizures. Here are some pictures.

Tina and I are hanging in. We are both pretty worried about eachother, but we know we can deal with any problems.

Thanks for all the support. There isn't anything anybody can do right now. We are all going to have to settle in for a long haul and hope for the best.

Worst News Ever

Thursday the 28th Tina said Linc started doing something weird with his eyes when he was startled. His eyes would wiggle around. It was pretty freaky so Tina called Dr. R, Linc's pediatrician, the next morning to make an appointment. I had to work in the morning, but came home at noonish. Tina had found some videos on the internet that were of other babies doing the weird things that Linc was doing. They looked to be seizures, and according to the internet, babies that get these can either grow out of them unharmed, or can die. A wide range of possibilities, but pretty scary nonetheless. So Tina was pretty upset before even going to the Dr. R's office, but we tried to remain hopeful that he was not having seizures, and instead hoped that these were just one of those weird baby things that sometimes babies do.

We took him into the office and told him that Linc was having little seizure things and showed him this video. They were indeed seizures, or more appropriately, myoclonic jerks.

The Dr. agreed that was unusual, 'interesting' was his word for it. It make me think of the TV show House, unfortunately 'interesting' on that show always means 'incredibly bad.' Dr. R called a pediatric neurologist he did his residency with and got us in to the hospital for an EEG. It was sort of surreal because unlike all our other visits to the hospital, there was no waiting rooms or forms to fill out. It's nice to know they care, but I wish they didn't feel they needed to.

Lincoln sat on the little bed with all those wires hooked to his head while the technician recorded his brainwaves. Tina and I just held Linc, told him everything was going to be OK and hoped for the best. Twenty minutes later the tech was done. Lincoln didn't have a seizure, but apparently his brain was doing something 'interesting'.

We went back to Dr. R's office, which at this time was closing up for the long weekend. He was waiting for us to get back from the EEG. He had received a call from the neurologist who reviewed the EEG charts. Apparently, the EEG was abnormal, but there were no signs of Infantile Spasms http://en.wikipedia.org/wiki/Infantile_spasms , which is the scariest thing in the world. They didn't know what was going on with him and we would need to have more tests. He prescribed Linc some medicine to help with the seizures and ordered some blood tests. We had to wait until Tuesday before we could meet with the pediatric neurologist, Dr. F.

We went to CVS to get the prescriptions filled, but they didn't have 1 of the medicines we needed. They didn't know where I could get it, and obviously didn't care. I dropped Tina off at home with Linc, bawled for a while, and went out to find somebody who had the medicine Linc needed. It made sense to me the one place that should have the medicine Linc needed was a hospital. It turns out the pharmacy at the hospital won't sell medicine. I went to Walgreens, they did have the medicine, but the prescription was sent electronically to CVS so they didn't have the prescription. They needed to get the prescription transferred from CVS to Walgreens, and were unwilling to call CVS to get it transferred. I called CVS and asked them if they could sent the prescription over to Walgreens. They told me that I needed to have Walgreens call them. After a bit of fast talking, they agreed to call Walgreens. Just to be on the safe side, I drove back to CVS to make sure. The pharmacist called Walgreens, but was put on hold so she hung up. She never sent the prescription. I thought about the scene on 'No Country for Old Men' where the guy blew up a car in front of the pharmacy so he could walk in and steal medicine. It did occur to me that blowing up cars wouldn't work as good as it does on TV. Instead we had a brief conversation, where I explained, using small words so she would understand, what needed to happen. Fortunately, she realized that it would be easier just to spend 45 seconds on the phone than it would be to pick pieces of her car out of the cactus. Walgreens now had the prescription and the medicine. 25-30 min. later I was heading back home.

Saturday morning we took Linc to the lab to get blood drawn. I spend the afternoon in the garage working on some stuff, mostly because I was breaking down. Saturday was spent cutting, grinding, welding and crying. I couldn't even open my mouth to talk to Tina without bawling. I was terrified of what could happen. I really want Linc to be OK. I thought of all the stuff that we might never be able to do together and it was soul crushingly horrible.

The weekend progressed slowly and the medicine didn't seem to be helping much. He had 11 seizures on Saturday, 11 Seizure on Sunday, and 7 Seizures on Monday. We couldn't wait until Tuesday so we could meet with the neurologist so she could solve everything. Finally, Tuesday morning we called the office and got an appointment ... for Thursday. Thursday? Thursday? Really? Shit.

The next couple of days were frustrating. Tina and I try not to think about it. We just carry on and hope that he will be OK. The medicine started working a little better. He had 5 seizures on Tuesday, and 5 seizures on Wednesday. It's still heart wrenching every time.

Thursday, today, we finally got to meet with the neurologist. She gave him a checkup and asked a bunch of questions about family histories. We don't have a history of seizures in the family, do we? He looks really good and does everything he should for a baby his age. (He weighed 13lb!, What a chunk!) She talked about what might be going on and what we can do about it. Basically, the answer is that we can't rule out anything. It might be something he will grow out of and be perfectly normal, or it might be Infantile Spasms. At this point we don't know and will have to wait it out.

Linc will be getting more blood work this week to see how his body is handling the medications that he is on, and to see if we can safely increase the dosage a bit to try to get the seizures under control. Hopefully an MRI soon, within the next week or so, (once our insurance approves it) to check for structural damage of the brain. A month from now we will be getting another EEG, unless his condition worsens before then. We are hopeful for a clearer idea of what is going on at the follow up EEG, although, we won't really know how this will turn out for months or years.

We are just hanging on, and hoping that Linc will get better soon.

Lincoln is 4 weeks now.

time for more pictures. yeha.

More Pictures of Linc