The Effect of Tuberous Sclerosis On My Family

Pat, Lisa, Jen the grad, and Mom
Jen's Graduation

Lisa - Last Updated (12/19/06)
Jen - Last Updated (10/5/07)
Jen and Lisa - Last Updated (2/27/11)

My family has been severely affected by a disorder called Tuberous Sclerosis. TSC is a genetic disorder, though it can also occur as a spontaneous mutation in many people. It has been passed down through four generations of my family. The most severe case being my daughter. Jen is the reason I decided to create these pages.

I will start by saying that this is the story of my family. These are my personal experiences and are only here to show how we have been affected by TSC.


Jen's Story

Jen has many of the symptoms of TSC. She has all of the skin markings, tumors on her kidneys and also she has Epilepsy. Her seizures can be up to an hour in length. We are now looking into surgery for Jenny to remove the part of the brain causing the seizures. The doctors think that the surgery might help not only with the seizures, but also with fixing the learning problems that Jenny is experiencing (due to the location of the tumor on her brain). They promise nothing though. We just hope for the best...

Here is a quick update on Jen and surgery..

We have decided against surgery for the time being. Jen started taking Neurontin last year to help control her seizures. This drug has done wonders for her! Before the addition of Neurontin, she was having daily seizures and about four times per month she would have seizures that last up to an hour. Her grades were also very low. Since the addition on Neurontin, she has only had one of the hour long seizures and the daily seizures are gone. She has small seizures one every few months now. Her grades have also gone up. She is not failing any classes now.

Since the Neurontin works so well, we don't want to take a chance with surgery at this time. It is possible that if they removed the "dominant" tumor that one of the other tumors would take over as the dominant tumor and cause seizures again. So right now we are happy just having the seizures somewhat controlled.

Update (3/8/97): Jen's seizures have gotten a little out of control again. She has been having daily seizures, and the length of them has also been increasing.. up to 30 minutes a seizure. My neuro and I have decided to try her on a brand new drug called Topiramate. It was just approved by the FDA and I have heard very good things about it. I know that there are side effects that might come with the med, but we have to try. Hopefully she will do good on it and be one of the lucky ones with no side effects. We're keeping our fingers crossed. If the Topiramate (Topamax) doesn't work then we will most likely try Lamictal, since that has worked for me quite well.

We have also decided to switch Jen from regular Tegretol to Tegretol-XR (extended release). I have been taking the Tegretol-XR for about 6 months now and the side effects have been greatly reduced. Also, the Tegretol-XR only needs to be taken 2 times per day which makes it less likely for her to forget a dose.

Since we are adding the Topiramate, we will be reducing the Neurontin. We don't want her on a ton of meds but this has to be a slow process. We cannot just take away the neurontin and put her on a full dose of Topiramate. It has to be very gradual, and will take about a month to be completely changed over. I'll update this page when I know something more.

Update (11/16/98): This update is a bit late, but here goes anyway. We (the neuro and I) took Jen off the Topiramate about a month after starting her on it. She was having a really bad behavioral reaction and she lost a lot of weight because she didn't want to eat very much. The med worked well to control the seizures, but the cons outweighed the pros. Jen is back on her old dosage of meds, taking Neurontin, Tegretol-XR and Depakote. It was working well up until the beginning of this school year. The stress at school has been causing some seizures recently, but we still don't want to make any changes yet. When and if we do make changes, the med we will try next is Gabatril (Tiagabine). Hopefully that won't happen anytime soon.

A major problem we are going through and have been going through for many years now is the educational issue. Pat and I have fought long and hard for Jen to get the help she needs in school, and we continue to fight. Jen is in her 3rd year of high school now, and it hasn't gotten any easier. In fact, last year I finally did the smart thing and found an advocate who would come to PPT meetings (Pupil Placement Team) to help in the IEP process. My advocate has helped me considerably in the short time that he was helping me. I strongly suggest anyone thinking that their child isn't getting the help and education that they should, go out and get an advocate to assist you. I could not have gotten Jen the help she now has without my advocate.

For information about the Protection and Advocacy Center visit their website at http://www.protectionandadvocacy.com. You can also find a list of educational links on my TS Sites page.

Update (7/29/00): Jen has graduated from high school!! Unfortunately, transition into the real-world is no picnic. Trying to find a program to help Jen, who is not considered mentally retarded, is very difficult. Jen is one of those 'borderline' kids, that needs help but not as much as others. What happens to these kids? They slip between the cracks and get lost in the system. I have called every agency that I know of in our area and there is nothing available without funding, and the only way to get funding is to qualify as Mentally Retarded. Jen is 7 I.Q. points too smart to qualify (as of 1998). There is a program that I could get her in, but the cost is outrageous! I am talking about residential programs here, or even just supported living type programs where someone would check on Jen daily and help her with her bills and all. There are vocational places that are helping us but there is nothing for residential placement. It's really sad that there is nothing for these borderline kids. And if I'm mistaken and there are programs for borderline kids, they certainly are hidden and hard to find, which makes them just as good as not there at all! The search continues....

Update (7/16/02): Well, it's been a while since I've updated the site. Jen is doing okay with her seizures. She still has them frequently, and Keppra is the latest med to be added to her cocktail of drugs. The other meds she takes are tegretol-xr, depakote, and gabitril - which she is being weaned off of as the Keppra is being added. Things are good so far.

Jen has had a job since getting out of school. She works as a housekeeper at a local hotel and is doing great. She is also going to college, trying to catch up to what she should have been taught in high school but wasn't. She is taking a computer class presently, and in the fall will continue with other classes. She already went through 2 reading classes and passed! Great job, Jen!

Update (9/5/04): Wow, it's been a while since the last update. Quite a bit has happened. Jen no longer lives at home. She is living with a friend of hers, has a job (still doing housekeeping), and is about to get the VNS to see if it will help her seizures! She recently went to Yale to see if she would qualify for removal of the part of the brain that causes the seizures, but that didn't work out. At her last visit there, the doctor told Jen about the VNS and said it would be good to look into. She agreed to allow Jen's local neurologist to handle it so she doesn't have to travel for changes (Yale is about an hour away from us, and Jen has to take a medical cab when she goes). Jen now has an appointment with our local neuro and will ask him how she should go about getting the VNS. I am hoping it works for her, since none of the medications around have helped yet, and she really doesn't have many more choices. Keep your fingers crossed!

Update (10/5/07): The Big Scoop: Jen is 25 years old now and has decided to have brain surgery to remove the part of her brain causing the seizures. She is one brave girl! She has already had the Phase III testing at Yale and is doing well. Jen had Electrodes placed directly on her brain and a few probes in her brain so the doctors could find out exactly where the seizures are originating from. The results say her seizures are all coming from her Occipital lobe on the right side - the part of the brain that interprets what we see (if I understood correctly). This location might be why Jen sees scary things during the seizures. The doctor will remove the entire right occipital lobe, which will cause Jen to lose some of her peripheral vision on her left side, but the doctor says she should adjust quickly. The odds of success (seizures going away) are very high but because Jen has calcifications elsewhere on her brain as well (the temporal lobe, though no seizures are originating from there right now), there is a chance of those cacifications causing new, different seizures. Hopefully that won't happen but if it does the doctor said the seizures she may have would be less severe than the ones she currently has.

So the actual brain surgery will take place on October 15, 2007. I'll do my best to update the site with the results as soon as I can. Hopefully my next entry here will have wonderful news.

Best wishes, all!

Update (2/27/11): Well, quite a few years have passed. Sorry I haven't updated this blog lately. Here's the latest and greatest... Jen's brain surgery in 2007 was a wonderful success! Yes it was scary and she lost her left peripheral vision, but her seizures are gone! She has not had a single seizure since the surgery 3.5 years ago! I am overwhelmed with happiness over this result. Jen went through a lot in her life with the seizures.. now she doesn't have to worry about them anymore. She is still on a minimum dose of anticonvulsants but the mega doses of meds are gone. Jen can now get excited about things and not have a seizure. That was really hard to get used to! When Christmas came in 2007 it had only been 3 months since the surgery. Every time she got excited during the holidays over a gift or seeing someone, I paid close attention, expecting a seizure to happen. What a relief when it didn't! Jen is happily living her life now, not having to worry about having seizures. I guess there's always the possibility that one of the other calcifications could cause issues, but so far, she's fine. Great update, eh?

A quick update on me, everything is good. No seizures in many years (knock on wood). I am just about to finish college.. yes, I know it took a long time but working full time and going to school is a bit taxing at timees. Almost there...

I just noticed that I never talked about my aneurysm here. I'm shocked! That was a major part of my life. I came very close to dying and I never mentioned it. For those who don't know, I had a brain aneurysm that bled back in 1996. The bleeding should have killed me but it stopped on it's own (they almost didn't see the aneurysm at the ER due to it's location). I was sent to Yale to have emergency surgery and they did a great job on me; they kept me alive against all odds. My doctors were amazing. I was in the hospital for a month, also having to have a cerebral shunt placed due to hydrocephalus after the surgery. It was a long road to recovery, but I didn't have any lasting effects from the aneurysm. I think that the aneurysm put everything in perspective. My seizures had been bad over the years, but the aneurysm had me at death's door. I'm very lucky to be alive today, and I haven't forgotten that. For a long time I wondered, why was I saved? It was a very weird feeling. Anyway, I just wanted to mention it.



Lisa's Story

I also have TSC and Epilepsy . I have the kidney tumors and facial and skin markings. I have been undergoing laser surgery to remove the facial angiofibromas. I have created a Laser Surgery page that shows pictures of before and after and also explains a bit about what happens.

I have Epileptic seizures which are short, but uncontrolled. My seizures are partial complex seizures that occur about 10 times per week. I have tried just about every anti-epileptic drug, but so far none have been able to completely control my seizures.

Update (9/28/96): I have been taking Lamictal, Phenobarbital and Tegretol for about 2 years now. The Lamictal was the newest med I tried..until now. My seizures were controlled a lot better after the addition of Lamictal but I was still having the nighttime seizures, about an hour after falling asleep. Also, when my tegretol was increased a few months ago I began having double vision every night and I felt sick to my stomach every day. I went to my neuro 2 weeks ago and he suggested we try the new Tegretol-XR. He told me it should make the double vision go away because it is time released, so the level of tegretol in my body is the same all day long. He was right! After 3 days of the new tegretol my double vision was gone and as an added bonus, I no longer feel sick every day! I am very happy with this. This tegretol-XR is the same as regular tegretol except that it is time released, which seems to make all the difference with me! I'll give you an update in about a month to see how I am doing then.
I haven't had a seizure in 3 days. Amazing!

Kidney Tumor Bleeds -- 5/7/97

Well, it finally happened. One of the tumors on my kidneys - actually called angiomyolipomas - bled. It was a very large one on my left kidney. The doctor said it was the size of a football. We knew it was big, I had just had a CT scan done a few months ago. The doctor said it had grown considerably in that short time. He was quite surprised.

I was very lucky to have gotten a warning instead of the tumor just erupting. I had pain in my side so I called the doctor and he sent me to the ER. That is when they saw that it had bled, but only a little bit. They still wanted to remove the tumor. The following morning, I had surgery. They managed to remove the tumor without taking any of my kidney. I was very happy about that. I spend a week in the hospital with a couple of complications. Part of one of my lungs had collapsed, which was causing me pain in my chest. There was also air stuck in my chest, which sounded (and felt) very strange. There were tons of chest X-Rays done to see what the problem was. The air was absorbed in my body after a couple of days and my lung slowly got better.

I was "set free" 5 days ago, and the cut is healing nicely. The kidney hurts, probably from all the cutting they had to do. The tumor was huge and was pushing all my organs around. Now my insides must be really happy to have so much room! :)

I still have 2 big tumors on my right kidney. Not as big as the left though, and the doc says they shouldn't cause any problems for some time. I hope he's right! This is not something I'm looking forward to doing again for a very long time.

I feel very lucky to be here today. If that tumor had broken instead of bleed, I might not have made it, or I might have lost my kidney. Somebody is watching over me.



Update (11/19/99): Well I was released from the hospital yesterday. I was admitted overnight due to cluster seizures that I had all through the night and every time I slept. I had 140 seizures during that first night.. about one every two or three minutes, lasting about 30 seconds to a minute each. I was given extra phenobarbital to allow me to get some sleep and try and get the seizures to stop. It worked, but a cause for the seizures has not been found. Nothing has changed that would cause them and all kinds of tests were done but nothing was discovered so I was sent home. I will now be taking a higher dose of phenobarb and will take it earlier than I used to (just after dinner, along with my lamictal) so I can sleep better. from what I'm told, lamictal sometimes causes insomnia so I was told to take the lowest dose just after dinner so it wouldn't cause sleep problems. It's worked great so far - no seizures since being admitted to the hospital. I am still concerned since there was no cause for these seizures, but I am happy they are gone.

Update (12/8/99): I was wrong. The seizures have not gone away. I have had the cluster seizures for quite a few nights over the past 3 weeks. On Dec. 5 and Dec. 6 (during sleep time) I had them really bad, about every half hour or so. I had to take extra phenobarb on the 6th but it still didn't work. I was up all night, as was Pat (hubby). The next day I saw my neuro. He prescribed Diamox for me to try and see if it works. It's been 2 nights now and I've been seizure free for those two nights. I still don't know if it's the diamox or if it's just my seizures letting up for a couple of days, as they have in the past. It'll take a while longer for me to believe it's the meds. Still, it felt good to sleep.

Hopefully this is the end, but I can't believe that yet. If the diamox doesn't do the trick we will try topomax. I'll write more as I know more.

Update (3/16/00): Well, it's been a few months since my cluster seizures. I must say, this medicine is doing a great job (so far)! I used to have seizures every week, a few times a week during the night. But since the addition of the Diamox I have only had a few seizures. I had one bad day where I had about 8 seizures during the day (which is odd..I usually have nighttime seizures), but other than those, I only had 3 seizures in the past 3 months - and one of them was triggered! I am so happy with the way this medicine is working. I really hope that now that I wrote this I don't jinx myself into having more seizures. :-) So, I guess the news is good this time. I'll write more when/if things change.

Update (7/29/00): This is a great update! My last seizure was on April 18, 2000! That means it's been over 3 months since my last seizure! I never dreamed the Diamox would work so well. I'm in the process of removing Lamictal from my list of meds. I was on 500mg/day of Lamictal and have been slowing reducing it (with the doctor's okay, of course). It's been a few months now and I am down to 200mgs - and still no seizures! I expected to have to add something to take the place of Lamictal, which I have been having side effects from, but so far so good. The reduction has gone well. Only 2 pills to go before I'm off it completely! Whoohooo! More to come....

Update (7/16/02): Wow, allot has happened since my last update. The diamox is still working it's magic, but I had to stay on the lamictal instead of removing it completely. When I was taken off the lamictal I suddenly became very depressed. The doc sent me to a psychiatrist who put me on an antidepressant, but I had horrible side effects from it. I ended up just asking to stay on a low dose of lamictal. The doc said okay, and the depression is gone. I am currently taking 100mg of lamictal a day. I am quite happy with the results.

In other areas, I went to college last spring! I took 2 courses - English Composition and Math - and passed them both with flying colors! Whoohooo! I will probably go back this fall, but presently I am working. I have been working for a few months now and I love it. I miss having alot of time to go online, but I think the tradeoff is worth it. I do miss everyone that I used to be in contact on the computer. I try to stay in touch, but my time is so limited now. Just look at how long it took for me to update this site!

Update (10/17/02): Well, since my seizures have been so well behaved, my neuro and I decided it was time to try and lower one of my meds. That was a mistake. We lowered the Phenobarbital by 60mgs and I soon began having nightmares and napping during the day. About 2 weeks after lowering the dose, my seizures came back at night. I had 4 the first night, then 2 the next night, and 1 seizure for the last 2 nights. We raised the dose back up to where it was before (180mgs) but so far the seizures haven't stopped. I'm hoping tonight will be the night they don't happen. It was really quite depressing when I had those seizures. They were stronger than any seizure I've had in the past 2 years or so. I hope they get under control again on my old dose.

I hate changing doses. :-( More soon...

Update (9/5/04): Hi again! I've been quite busy lately so I've had no time to update the site. Today I have taken the afternoon to do just that. Be sure to drop by the photo album page to see some new photos. :-)

Things are really good with me, and they have been for a while now. The Diamox is still working! I have maybe 4 seizures (really, they are just auras) a year! That is totally amazing to me. I am still working at the casino, but now I am an office coordinator working in Human Resources. It's a great job and I love going to work every day. I was employee of the month back in July - a very proud moment for me. I haven't taken any College classes recently, but I have been taking other computer classes at work and am learning new things every day. I would like to take classes in the winter at the local college.. hopefully I will be able to sign up for some. I would like to take classes on becoming an Administrative Assistant. We'll see what happens.

I miss all my friends from TSCTalk, but some of them have written me lately which is really nice. Thank you to those who have kept in touch. I hope all is well with the old TSCTalkers.

I guess that's about it. More soon.. take care!

Update (12/19/06): Well, it's been some time since I've updated this site. Things have been really good here. I have not had any seizures in years now. It's been so good that I was able to get my driver's license last year! What a change, being able to drive myself where ever I want to go. I'm loving it, but it is also scary. Now that I know the freedom of being able to drive, it would break my heart if my seizures were to come back and take that away from me. It's one thing never having a license, you don't know what you're missing. But once you have one, you know what you will miss if it goes away. I'm just hoping my meds will continue to do the wonderful job they have been doing.

I have been out of the loop for a while. I think much of that was because I am a bit superstitious. I feel that if I talk too much about how well I'm doing, that I will be tempting fate - almost like asking for something bad to happen. But enough time has passed by that I feel less worried to say 'things are good'.

In other matters, I went for my first lung doctor appointment to check for LAM (Lymphangioleiomyomatosis). From what I read, I have a high probability of having it because I have Angiomyolipomas (AMLs). In the initial tests, the doctor has said I probably am in the early stages of it, but it will take a few more tests to find out more. I will go for a contrast CT Scan the day after Christmas, then back to the doc next month for the results. Wish me luck!

Jen is doing okay. She is living on her own (with her boyfriend) and is considering having surgery done to remove the part of the brain that is causing her seizures. Her seizures are still uncontrolled and the doctors don't really know what else to try. She had the VNS implanted and it helped a bit, but not enough. She will be seeing her doctor in March to do further testing to see if she is a candidate for surgery. I think I mentioned here that we looked into surgery for Jen when she was 13, but the odds weren't that good that the surgery would help her and I didn't want to put her through brain surgery. She made the decision now to try it because she doesn't know what else to do. Also, I had an aneurysm that bled a few years back and she saw me go through a type of brain surgery. She told her doctor that she is willing to try now because she saw that I did it and was okay. I really hope it works if she decides to do it.

I have decided to resurrect TSCTalk. I have started a Google Groop called TSCTalk and have begun working on the new website for TSCTalk at www.tsctalk.org. I don't know how it will work, if people will return or stop by, but I miss everyone and hope that maybe I can get back to helping others. I miss the people I knew from the TSCTalk days. So if you're interested, stop by the new TSCTalk and see how we're doing. (the site is still under construction as of today)

Pat and I celebrate our 9th anniversary in February 2007! It seems like yesterday that we got married with the help of the TSCTalkers. Today I came across a file I have saved that has all the poems that the TSCTakers wrote to us for our first anniversary. Wow, that brought back memories. I was, and still am, very touched by the thoughtfulness of you all.

Happy holidays, everyone! I hope the new year will bring health and happiness to all!

Lisa

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Lisa Trainor
lisa.trainor@gmail.com