Tag Archives: Sabril

A trip to the ER and other medical hassles.

And of the medical hassles, the ER was the most pleasant one.

Our Christmas Eve tradition for the last few years is to have family over for Christmas Eve dinner. We stuff ourselves with appetizers and leave a ton of leftover ham, mashed potatoes, pasta salad and green bean casserole. Within three minutes of our guests leaving, hardly even giving us time to complain about the bottle of wine that we opened and was hardly touched (it was one of those mondo size bottles that leaves me torn between not wasting perfectly good wine and the fear of sleeping through Christmas Day in a stupor), Connor was fussing for his iPad by the kitchen table and went down with a loud thunk. I picked him up and set him on the island, hoping for his standard forehead bruise. It’s a constant battle to keep his forehead a normal skin color, and that is why he frequently wears head protection. I realized he was bleeding and called to Chris for paper towels. One swipe and I knew we had a problem. This was deep.

We headed to the Kennestone Hospital ER where Connor received three stitches. We were in and out in just under two hours. It was impressively simple and undramatic, but I guess when you’ve already done the NICU and brain surgery, three stitches ain’t no thang. In fact, Connor had spent the entire day being royally uncooperative as far as smiling for photos, giving me the first in the waiting room with a hole in his forehead.

IMG_3389

IMG_3423

Getting the stitches in was easy. Getting them out turned out to be the pain. The ER doctor informed us that while we could come back after the holiday, the wait would go back to standard long waits and suture removal is bottom priority. He recommended getting them removed at his pediatrician. I love his pediatrician. I do NOT love the office staff that stands between us. I called to make an appointment and was told that she’d have to check and see if anyone would do it on a young child’s face. “It’s just three!” I tried to persuade her. Two hours later, a nurse calls me back and says it’s okay. She transfers me to the scheduler. “Well, they don’t usually do this on kids under three. I need to check.”

“We just went through this,” I explained. “I was transferred to you by the person who got the okay.”

“I still need to check.”

WTF.

After a long hold, she comes back. “You’ll have to take him back to where you got them.” I don’t think a doctor was even consulted. It was just “office policy.”

I was pissed now. I informed her we would not be going back to the ER. I did not inform her of how wasteful of time and money this was, or what a burden this kind of crap is on the system. I asked if an urgent care would do it. She thought they would. But after careful consideration of the all the germs floating around in waiting areas and the fact that the flu is reportedly raging through Georgia, we opted to Google stitch removal and do it at home. If there were a lot, we wouldn’t, but three seemed doable, and it was actually pretty easy. So take that, idiotic office policy.

I also handled the fact that last month’s paperwork glitch regarding Connor’s Sabril (vigabatrin) prescription was apparently never resolved. Typically, if there is an issue filling this prescription, a group called SHARE works with the manufacturer to make sure prescriptions go out. I learned that this is not the case if you are marked non-compliant with the eye doctor paper work. They had sent us last month’s prescription in spite of the screwup. Thanks to the FDA, they couldn’t do it again.

You see, Connor takes a seizure med that carries some risk to peripheral vision. The FDA, when they finally got around to approving it in 2009 — 30 years after initial clinical trials — decided that if you wanted to use it, you had to have eye exams every three months. They also recommend ERGs every three months. An ERG requires Connor to be put under for 45 minutes to an hour. We stopped those a long time ago. He had one come back indicating a change. But nobody could tell us squat about what that meant, or if it was even more than a fluke. Not even all eye doctors recommend it. Some bend to the fear of the FDA and others flat out tell you it’s a waste of time and they can tell you very little with young children.

The regular eye exams (at which the eye doctors also acknowledge they can’t tell you much and it’s just an empty requirement) are very mandatory. Paperwork must be submitted to keep the meds coming. Some parents speak of obtaining waivers for these, but those waivers seem like unicorns to most of us. Something wasn’t submitted properly. Then it didn’t get fixed properly. And then it was decided by all parties (other than me) that the best option was to not give my child his seizure meds and status seizures, brain damage, even death was a better possible option than some minor impairment of his peripheral vision. The FDA is apparently well aware that one needs 20/20 vision when on a ventilator fighting for life. I did not inform the manufacturer or pharmacy that I was able to obtain some for Connor so that he was not at risk for the terrible dangers of cutting a med cold turkey. Eventually the kickass assistant at his neurologist’s office was able to fix the situation, further proving that they are the only medical office I have ever been able to count on.

Sabril was not the only source of my fun with pharmacies. I tried to refill his Onfi. When I called to do so I was informed they were out and I could fill it locally if I had the local pharmacy call to transfer it. Annoying (don’t you plan for your regulars?) but okay. I had filled it at CVS before. First I tried Walgreens because it’s closest. No pharmacy in the area had it. Then CVS. Nope. Then Kroger. Nope. I called the mail order pharmacy, Optum Rx, back and asked what was I supposed to do now.

“Well, you may have to call his neurologist and get a prescription for something else.”

Something else? Just replace his highly addictive benzo?

“I don’t understand how you just run out of something you are supposed to mail on a regular basis. I want a supervisor.”

Three people later, we were able to piece together that by “out” what they actually meant was that they could have it to me by the following Wednesday, but they didn’t have it that day (Friday). It apparently took three people to get this vital piece of information that took a major issue to a non-issue. In pissed relief, I told them that was fine.

Have I mentioned I have three different pharmacies for Connor? So much for safeguards where the pharmacist can be that extra set of eyes watching for interactions and issues. I have to get Sabril from CVS Caremark (which is great as long as the FDA stays out of it), Onfi is from Optum Rx (their motto is “At least we’re not Accredo”) and all others from a local CVS.

So now we’re stocked back up on meds. It’s 2015. Despite all the venting in this post, I think it will be a good year and I hope it will be a good year for all my friends in the epilepsy community that spent the holidays in hospitals. I will leave you with some pics of Connor’s Christmas (three times in three homes!) to cleanse the palate.

Emptying the stocking.
Emptying the stocking.

IMG_3438

With Aunt Donna.
With Aunt Donna.

IMG_3457

IMG_3459

Checking out the turtles with Grandpa John.
Checking out the turtles with Grandpa John.

 

Advertisements

I never thought I would be writing this story. I never thought we would be living it.

Second Annual “Blogging for TSC Awareness Month” Day 25

by guest blogger Becky Ruppe  (Cumming, Georgia)


photoI will start off by saying how hard it is to sum up our journey as it is a never-ending battle and the past seven months seem like years. Our story with Tuberous Sclerosis Complex 2 begins with twins, after many times trying to start a family and after trying everything; as soon as we stopped trying, we were blessed with twins. We were so happy, but we would soon find out; everything was not as it seemed. As time progressed in the pregnancy, his twin sister passed in the womb from another rare disorder, Trisomy 13. Not long after all that, on ultrasound, the doctors found tumors in our son Ben’s heart. We were devastated by this news and still recovering the loss of his sister.  That day was tough and the first time we had ever heard the words Tuberous Sclerosis. I remember thinking there is no way we could have two rare things, but as time progressed more tumors popped up on ultrasound and we were told our son Ben had an 80% chance of having TSC. He had more than seven tumors in his heart and one that should have been blocking his outflow; it kept growing and growing. It was honestly a miracle that he was surviving, as the one blocking his flow was so large. We found every day was a challenge emotionally and we had nothing left to do but to pray for a miracle that we wouldn’t have to do an emergency c-section to try to save his life with open heart surgery to remove it.

We had fetal MRIs to look for tumors in his brain, but nothing showed up. Finally on October 23 we gave birth by c-section to our son James Benjamin Ken Ruppe, he went straight to the Nicu when born, he was not eating and was given a feeding tube and was given medicine to keep his blood flowing through his backup channel in his heart. We stayed hopeful, but by day three they did an MRI and we were walked into this tiny room and given the findings of his MRI. I remember that walk like it was yesterday, I had tears before we even made it to the door. They found multiple tubers and nodules in his brain and was given the actual diagnosis of TSC. It was heart wrenching, the hospital made it seem as though it was a death sentence, we had him baptized that night. We were clueless what was going to happen, would he need heart or brain surgery, would the medicine continue working, would he start having seizures, so many questions not one doctor could answer. Then two days later; our son Ben was able to come home. We followed up with three doctors the week we came home. It was overwhelming, scary and honestly I don’t know how we made it through all that.

Since giving birth, most of his tumors have reduced in size in his heart and he is currently in therapy once a week for muscle loss due to his TSC. He started photo-1having seizures New Year’s Eve and ironically those seizures did not show up on his EEG. He has had several EEGs,  and the seizures have become more frequent. About two months ago we were told his EEG reflected localization epilepsy with focal onset seizures. It has been really horrible to watch him go through all this. Every EEG brings tears for our son.

Thankfully, when we found out about the possible diagnosis of TSC, I reached out to the Tuberous Sclerosis Alliance and have met a really great support group. We also enrolled our Ben into two studies that we travel to Boston for.

Most recently we noticed Ben started to drop his head and we called his neurologist and went into the hospital for a VEEG.  Within an hour and half of him being hooked up, the doctor came in to tell us he was in fact having infantile spasms. The funny thing was that they give you this button to push every time he has an episode. I pushed the button twice during that hour and half. What I found out later, was that he had multiple spasms and clusters and other seizures that I did not even recognize. I will say it was very frustrating that nobody came in and showed me on the video — this is a spasm, this is a seizure. I was told by the Children’s Hospital in Atlanta that they do not have the medication Sabril, which I understand is the best med of choice to treat Infantile Spasms. This to me was a load of crap. How can you not have this medicine and why did we have to wait to get our son the best treatment when from day one we were told that Infantile Spasms can be deadly?

They said I had to wait and get it from his doctor’s office and they sent me home with Klonopin. He was already taking Keppra for complex partial seizures.  Thankfully, his local neurologist Dr. Flamini got us the meds in two days, but in my mind it was still unacceptable to be sent home without the best meds for his treatment.

Since coming home from the hospital Ben is having probably close to 70 + seizures a day.

We have increased some and lowered others of the meds he is taking. We are currently on day 4 and waiting for a change. His spasms have changed into something completely different, with the occasional head drop.  Now looking back, when Ben was 8 weeks old, he was extremely colicky. We took multiple videos and were always told it was nothing and that he was fine, but I know now, judging from his current colicky status (Infantile Spasms) that he was in fact having IS and or some seizure activity as a baby and because his EEG was not showing it and based on opinions of doctors, we delayed treatment. I also know that his infantile spasms are not the normal spasms you would see. They are not as defined and often rotate from one side to the other.  We also were told recently that he has multiregional epilepsy and that he is not the best candidate for surgery.

If I could go back, I would have started medication sooner, because who can help but wonder what damage has been done.  In five days, my son went from having excellent head control to having very little and he also went from being able to stand and put weight on both his legs to not being able to do that for more than a second.

This past Saturday we called 911, as Ben had a seizure that lasted over 20 minutes. The EMS came and they said his heartbeat was fast, but everything else was good and we just continued to watch him per his local doctor.  I am not sure how everyone else feels about giving your baby medications, but giving my Ben three medications twice a day is a struggle. It is hard… every time I have to mix it, I have to take a deep breath to get through it.

I will never give up on my Ben. My husband and I are in a constant struggle with acceptance, and no matter what people say, it is sad and it is hard. There is nothing that can describe watching your son, your sweet innocent baby boy, have seizure after seizure and all we can do is sit back, love him and watch. TSC is the worst pain in the world to us. We aren’t giving up, but we are giving in to the emotion that we are allowed to feel pure anger and a little helpless at times, as there are limits to what we can do for him — the rest is up to somebody else. I hate every second of every day that I have to watch him suffer.  Many will say that is not a way to live — nope, it is not — but it is our truth. We still check him to make sure he is breathing and we are still living and fighting and find massive amounts of joy in everything else our sweet Ben does — when he smiles and when he loves. Our relationship with TSC is completely unavoidable and that is what makes it suck and it is what it is.

Each day we face TSC, we face many challenges emotionally and financially and many sleepless nights. We want a cure so bad it hurts. You are never prepared for the what ifs. I never thought I would be writing this story. I never thought we would be living it. I never thought I would be giving our son three medications that make him totally not himself. I never thought I would be learning a whole new language. I thought I would be going somewhere completely different. I thought a lot of things. I have wanted to be a nurse my whole life, and I have wanted to be a mother my whole life. I thought so many times I would go to nursing school. I know now that that feeling of wanting all those things is now my reality, I got what I want and wouldn’t trade it for anything,  I am right where I am supposed to be. I thought having a child would be so different and that we would play normal people, but turns out we are, it’s just our normal day to day is just a little different than others.

I love every minute I have with my precious Ben, I love that I have been able to jump right in and take care of him. I love that I can make him smile. I love that my husband is such a great father and husband to me. I know that TSC affects us, but it also affects our friends and family, as they are constantly in this battle with us. We are thankful for all the support we have been given, by the TSC Alliance, the TS Mommy site, Dr. Flamini and all the doctors he sees.

photo-2We don’t know how the next year is going to go, we don’t know if he will stop breathing tomorrow from a seizure or if the next seizure will be the one that slows his development even more. Will he need brain surgery? Will his kidneys be affected? Will he be able to have children? Will he learn to walk and throw the ball? All the simple things in life; we are left wondering and hoping. We don’t know what kind of life he is going to lead yet. Will we as parents be able to afford the best treatment for him? Watching our son have seizures is something you can’t describe, there are no words. I do know that my son saved my life. If it was not for him, I am not sure I could have made it through the loss of his sister. So, now my husband and I are giving our life to him. I know now that his sister is in Heaven watching over Ben and our family and not a day goes by that I don’t think about how our life would be if we still had her with Ben, but I know now that that happened for a reason. Ben needed his extra Angel and she will take care of us and watch over our family.

We find great comfort with every second we have with him and every morning we wake up to his smile. The light at the end of our tunnel is holding onto hope that research in finding a cure for TSC 2 is continued and that one day there will be more options for treatment for our son and maybe soon medical Cannabis Oil will be legal in the state of Georgia, because after giving my son all of these  harsh medications, I have no doubt that I would choose that first before any of this stuff he is on currently.

My family is the best family in the world. We will never give up and we will fight every day.

Our story with TSC 2 will continue  and one day I hope we can look back on all these hard days and say, We showed you TSC… We showed you…

 

Our happily ever after felt as if it was being taken away from us.

Second Annual “Blogging for TSC Awareness Month” Day 13

by guest blogger Heather Lens   (Stilwell, Oklahoma)

Madilyn Rae Lens, was born on October 19th, 2012. She was born a perfectly healthy little girl. She was a dream come true! We had no reason to believe 1234820_4656475948570_2025514539_nthat she would be anything but healthy as she hit milestones in her first 5 months of life.

All of those thoughts changed when at 5 1/2 months old she started doing a weird twitch with her arms. I was feeding her and she kept throwing her arms in the air. My mommy instincts went off immediately. Deep down inside I knew something was wrong. Nothing she was doing looked like a seizure to me, but for some reason my mind kept going back to wondering if it was a seizure. After a day of seeing light twitches I took her to her pediatricians office. Unfortunately, her pediatrician wasn’t there so we had to see another provider there. He told me he didn’t think it was anything other than motor reflexes but he would refer us to a neurologist to calm my fears. I left his office that day full of mixed emotions. I was happy that the doctor said it was probably nothing but still had a gut feeling that he was missing something. I had been around my siblings when they were infants and I didn’t ever remember seeing anything like this. I cried the entire way home at the thought of waiting 2-3 weeks for the referral. How could I wait that long for answers? I called my husband and told him something wasn’t right. He immediately left the fire station and came home. That night I consulted the lovely library of Google. Everything I looked at said the term Infantile Spasms. I was sick after reading information about this catastrophic type of seizures. I knew that this is what she had. I cried and told my husband about it and he agreed we would take her to a children’s hospital first thing in the morning. I didn’t sleep a wink that night. My mind was going in all directions. The  next morning, while I was getting her ready to leave for the hospital, she had one of the most intense episodes. Her eyes started rolling up and she would cry like she was in pain. We loaded up and headed for the hospital which was two hours away. The car was silent the entire way. I was able to catch a few of her twitching episodes on the way to the hospital . We got to the ER and we were immediately admitted after the ER doctor saw a video of the seizure. Still at this point no one was calling it a seizure they were calling them muscle spasms, which gave me a false hope that maybe it was nothing.

558704_10100447182455011_1003519270_nAfter being admitted she was put through a million tests, blood, urine, MRI, EEG, EKG and probably more that I 10307367_10200927489788174_5094866193832748621_ndon’t recall now. After her first EEG it was confirmed that our perfectly healthy little girl was having Infantile Spasms and if we didn’t get them under control immediately it could lead to mental retardation. Those words hit me like a ton of bricks. We were devastated and couldn’t seem to figure out how she could have such an awful type seizure when she had been healthy up until now. After they explained her diagnosis of IS they said they also needed to rule out a rare genetic disorder that can sometimes coexist with IS. They were going to check to see if any of her organs were “marked” with a disease called tuberous sclerosis. I remember being 100% confident that they were wasting their time looking for this rare disease. They already told us she had IS, it couldn’t get worse than that. I recall my mom and husband trying to find information regarding TSC online and I got a little angry at them. I didn’t know why they were wasting their time looking at it because she simply could not have a rare genetic disease along with these seizures. I have no doubt that I was going through denial at that point.

The next day we got the heart wrenching news that she in fact had tumors on her brain and heart. She showed enough signs that she did have TSC. My heart broke into a million pieces that day. At one point I do remember feeling as though life was over. I was terrified of our daughters future. All of the things I had envisioned for my daughter was suddenly ripped out of my hands. We were told that she would be delayed, she may need brain surgery, she may never be able to live an independent life. She may never walk, talk, feed herself. It was all doom and gloom. Our happily ever after felt as if it was being taken away from us.

We left the hospital a few days later and were as well equipped as possible for her new type of care. After two days of taking Sabril her IS disappeared! And 1382781_4821538395028_1044385447_nabout a month of being on Sabril we started to see her personality shine through. Although we still had the fear of this disease. she was showing us signs of hope! We waited and watched her like a hawk, anticipating the next seizure.

Fast forward a year. We haven’t seen a seizure since April 26th 2013. We also have been beyond blessed that all those frightening things we were preparing for have not shown themselves. Madilyn is currently on track with her development and is a month away from starting the weaning process.

The past year has been such a whirlwind. Our emotions have been scattered all over the place. Thankfully we have outstanding family members and community that have helped us move forward with life, and have taken on our cause as well. We have seen an overwhelming amount of support for Madilyn and our family. Without the support and our faith we would be lost. I am so beyond thankful for this past year. She has shown me what it means to have courage and strength. She doesn’t stop fighting for one second, which means I wont stop fighting for her either. She is my little fighter, and my constant reminder of true love.

10173556_10200800647617199_712737875077673219_n
Check out Heather’s blog Life with My Princess and her contribution to this blog for 2013’s TSC Awareness Month.

I want new TSC parents to know that there is hope.

DSC_0080

Second Annual “Blogging for TSC Awareness Month” Day 2

by guest blogger Brittany Schwaigert  (Memphis, Tennessee)

Our story begins in the spring of 2008. My husband and I had just welcomed our very first child into the world. Greyson was born a beautiful and healthy 7 lb., 10 oz. baby boy and there were no indicators at all that anything was amiss with his health other than a slight touch of jaundice. He was, and still is, such a beautiful child. We were so thankful that he was healthy. We never took it for granted.

Then at two months of age, Greyson had his first round of vaccinations and subsequently developed what looked like sun spots on the tops of his thighs. The vaccinations had been administered in his thighs, though, and I was aware that the appearance of the spots might well be purely coincidental. I was far from panicked, but looking back on it, I do remember that point as being the first time I had misgivings concerning Greyson’s well-being.

Things took a turn when, at approximately three months of age, Greyson started to develop a strange habit. His habit looked to me like the Moro reflex – a phenomenon that occurs when some babies are placed on their backs and respond by throwing their hands out in the air. But in Greyson’s case, this behavior kept happening at strange times, and in clusters. Close family members who witnessed the behavior or were told about it tried to tell me and my husband that it must simply be an immature nervous system, or said that “babies do all kinds of weird things.”  My gut instinct, however, told me that something just wasn’t right.

Then one afternoon, Greyson was lying with me in the bed and I was watching him sleep. All of a sudden it hit me: what if this behavior was a seizure? I practically ran to the computer to find out what I could about behaviors associated with infant seizures. What I found made my stomach sink into the ground. It hit me like a Mack truck that what I was seeing in Greyson was the outward manifestation of a dangerous and aggressive type of seizure called Infantile Spasms. It felt like my world was crashing around me in one split second.

I have always felt that it was the hand of God in my life preparing me for what was to come that, before giving birth to Greyson, I had worked for a pediatric neurologist managing an event facility that he owned. I called him immediately on his cell phone and left him a message. What followed in the next few weeks would be a complete blur.

Greyson was examined by the doctor in his office, but there was nothing that he felt he could definitively diagnose without an MRI. We scheduled the MRI and when the day came, I can say without hesitation that putting a three-month-old infant into an MRI machine was one of the scariest moments of my life. I sat in that MRI room with my baby, freezing to death, trying not crumple into a heap on the floor.

After the results came back from the MRI, the doctor called me at home. He said that he saw “indications of Tuberous Sclerosis.” The doctor explained thatdownload (2) Tuberous Sclerosis (TS) can cause epilepsy, learning disabilities and sometimes even blindness if victims develop the tuberous growths caused by the disease in their eyes (incidentally, this is the reason I feel it is so important to go directly to a TS specialist when anyone is diagnosed with TS. Though I’m thankful we got a diagnosis when we did, due to the relative rarity of TS, I was given barely a shred of information about the disease that would come to change the entire scope of our lives. The only thing I knew about TS was that my husband’s step-mother’s sister had it and she had been institutionalized for years). I looked at my precious baby lying there and suddenly was filled with fear for his future.

After a myriad of other diagnostic testing, including blood work, a lung x-ray, an echocardiogram, a kidney ultrasound, and several EEGs, the neurologist we had been referred to and his group came to the conclusion that Greyson’s condition was, indeed, TS. On top of that, Greyson was also diagnosed with Polycystic Kidney Disease (PKD). Because of the proximity of the genes responsible for both TS and PKD, in many cases of genetic mutation associated with TS, both of the genes deleted at the same time. They did in Greyson’s case, and our lives have not been the same since.

We continued going to this same neurologist for months, even after he said ridiculous things like “I can tell when someone has TS just by looking at them,” or “don’t Google this disease,” or “I guess we can try Vigabatrin (the first line of defense against infantile spasms, which was only available through international mail order pharmacies at the time) but you will have to get it on your own from Canada,” or my favorite (from his associate): “Are you asking me if every spasm is like a bullet to the brain? No, I don’t think so.” Meanwhile, my child was suffering intensely. He was crying every time he had a cluster of seizures and it was heartbreaking to watch. It gives me physical pain to think of it now.

At one point at around six months of age, when my child was incredibly doped up on Phenobarbital and ACTH for his seizures, and bloated to an unrecognizable state, I broke (I am not even going to mention the horror of sticking my child with a needle twice a day). I just couldn’t take the stress anymore and I demanded that he be admitted for a 48 hour EEG. During that hospitalization, Greyson had his life saved the first time. His blood pressure was so high from the ACTH and his PKD that he had to have emergency blood pressure meds put in through an IV. He could have had a stroke at any moment.

IMG00118After that hospital stay, receiving no answers as to how we were going to stop Greyson’s seizures, I made up my mind that TS was not going to get the best of us, or him. I immediately researched the nearest TS clinic. At that time, in 2008, the closest clinics were in St. Louis and Nashville (we are in Memphis). My in-laws live in St. Louis, so that was the obvious choice. I begged the clinic appointment coordinator to get us in as soon as she could. When we met Dr. Wong, the head of the TS clinic in St. Louis, he put Greyson on Vigabatrin/Sabril immediately. For one entire year afterwards, we had seizure control with a  combination dosage of Vigabatrin/Sabril and Topamax. After going through a huge amount of different medicine combinations, we had finally found one that worked. For that year, everything seemed like it might get better.

Then, out of the blue one day in 2010 at a therapy session, the seizures started again. They didn’t stop for two years. The seizures were intense and very frequent. Sometimes, Greyson momentarily stopped breathing and often fell and hit his head. Through all this time, Grey was getting farther and farther behind his developmental milestones. He didn’t crawl until 13 months, he didn’t walk until 21 months, and he didn’t talk until he was five. At this point, I feel I can’t stress enough how important it is to get your child into Early Intervention when he or she has TS. We scoffed at the idea at first because Grey wasn’t behind until he was close to a year old. But, looking back now I would advise any parent to go ahead and start it as soon as possible, since the TS diagnosis alone is enough for your child to automatically qualify for this free service.

In any case, after failing with ACTH, Phenobarbitol, Keppra, Sabril, and Topamax, Dr. Wong was ready to pronounce Greyson’s epilepsy intractable. So, we started to think about a surgery evaluation. Around this time, I noticed that the TS Alliance had designated LeBonheur in Memphis as a TS Clinic. I was thrilled to hear this! My husband made contact with them regarding the Tennessee Step Forward to Cure TS walkathon that I have chaired for the past few years and they offered to see Greyson and give us a second opinion.

This was the beginning of something amazing. Dr. Wheless, the head of the TS clinic in Memphis, and his staff at the Memphis clinic are miracle workers. I cannot say enough wonderful things about how much this man cares for his patients. One of the best things that a doctor can be is proactive and open to listening to patients and their parents. Dr. Wheless started us on the first of several medicine changes to see what would work. We went through combinations of Clobozam, Zonegran, Topamax, Depakote, and Onfi to no avail. He did more MRIs, multiple EEGs, an MEG, and a full surgical evaluation. That unfortunately told us that Grey was not a candidate for surgery, since a cluster of tubers were located in a dangerous area of the brain over the ear, where removing them could possibly do more cognitive damage than good. But Dr. Wheless stayed vigilant.

As a last resort of sorts, when Greyson was four Dr. Wheless suggested that we try Sabril again. By this time, Greyson was having several seizure typesdownload (3) including complex partials and tonics, along with myoclonics, which were the worst offenders in his case. Dr. Wheless said that there was some research indicating that Sabril was working well for complex partial seizures once a patient gets to be a little older. But, TS had something in else in store for us.

The same week that Grey started taking Sabril again, he started to act like he was getting sick. We couldn’t figure out what was wrong with him because there were no outward symptoms except listlessness and extreme lethargy, and some bruising on his feet. I took him to his pediatrician and, bless her heart, she said “I don’t know what is wrong with him, but I know it is SOMETHING. I want you to take him to the ER right now.” That began the worst month of our lives and marked the second time that Greyson’s life was saved.

After numerous tests and several days in the hospital, the ER doctors found that his blood work had come back with severe Leukocytopenia, which means that his body was extremely low in white blood cells. So low, in fact, that he needed a plasma transfusion. Basically, if he would have fallen and hit his head (which he did frequently with seizures and hypotonia) he could have had a brain hemorrhage and died. Dr. Wheless and his team, along with the hematologist concluded that Greyson had gone toxic on his Depakote. He was on a high dose at the time and his body had lost its ability to produce white blood cells. This was after they scared us to death with the possibility of his having leukemia and talk of his potential transfer to St. Jude down the street. We had no choice but to stop Grey’s Depakote dosages cold turkey. Those of you who are epilepsy parents will understand that there is a reason that you wean off AEDs – you never quit cold turkey.

Once we got Greyson stable after the transfusion and his white blood cell count started to improve, we were able to check him out of the hospital after a week-long stay. Mysteriously, he didn’t seize one time during our stay. This was the first time in two years that he had been seizure-free that long. But the horror was really only just starting. As soon as they stopped the Depakote, Greyson began smiling and laughing again after what seemed like an eternity of being doped up and zoned out from all the medicines. Before we checked out, though, I noticed that he was hyper and not wanting to sleep.

250804_3839084948335_1350123231_n-1He didn’t sleep for five days. Greyson had an experience akin to a drug addict  going through withdrawal from heroin. He would scream and cry and want to be picked up and then want to be put down and he would try to climb you like a tree. He ate NOTHING for five solid days, he barely drank anything, and he lost so much weight. It was the absolute most difficult thing that I have ever been through, and it wasn’t even me who was going through it. It was like an alien had taken over my child. His body was literally vibrating. I have never been so scared in my life. No one could tell us what to expect or how long this detoxing process would take, so there was no light at the end of the tunnel. It is difficult to express how horrible this two-week period was on our entire family.

On the fifth or sixth day of this hell week, he finally had a popsicle. We all breathed a little sigh of relief that maybe things were getting better. And slowly, he started to want more popsicles and more drinks, acting more and more like himself. We went through three different drugs that week to get him to relax, including Valium, Klonopin, and Risperdone. The Risperdone was just as scary as the withdrawal symptoms, however, causing Grey to drool and seemingly hallucinate.

After almost two weeks of hell, his body adjusted to the change. We ended up putting him back on the Depakote at a non-therapeutic dose (less than half of what he was taking previously) just to help with behaviors. As soon as he got that first dose back in his system, he fell asleep. It was like the clouds opened up and we saw the light of heaven. He has not seized since.

That seizure-free period has now lasted for 21 months. Every day I think about the next time he will seize. I often have nightmares about it. It is a fear that will never leave your mind when you are a parent of an epileptic child. Any strange movement makes the hairs on the back of your neck stand up with alarm.

I am thankful, so thankful, that Greyson has had this respite from the continued seizures plaguing his mind, his growth, and his life. He has turned into a completely different child. He is a person who we feel we are meeting for the first time and we love every second of it. He still struggles with simple tasks like potty training, but the difference between Greyson at four and Greyson at six is 180 degrees. He began to talk at five years old, and he is now learning new words and phrases all the time.

What I want new TS parents to know is that there is hope. You should always follow your gut and keep pushing your doctors when you are not getting the answers you want and that you deserve. If your doctor will not be proactive and listen to you, then find another one.

I would also encourage TS parents to love your child today – not for what their future will bring, not for what they were before the seizures took over, not for what you imagined they would be – because none of us know what the future will bring. When Greyson was first diagnosed, my best friend said something to me that has stuck with me all this time. She said: “None of us are promised tomorrow. Tomorrow, my child might fall and hit her head on the stoop and be brain damaged.” And, however sinister a thought or remote a possibility that may be, in the end it’s true. We have to appreciate what we have right now, in this moment, because we really don’t know what tomorrow will bring.

Guest Post – Mixed Up Mommy

Savanna's Journey

Infantile Spasms are not diagnosed early in many cases due to a lack of knowledge, even by physicians.  I am not putting any blame on physicians, but the fact is that this is so rare, most practicing pediatricians simply won’t even see a case in their career.  Parents are almost always blindsided by such a diagnosis.  In some cases, a family has warning of a symptomatic onset of this epilepsy.  All scientific evidence indicates early diagnosis and aggressive treatment gives the patient the best chance at the not only stopping the seizures, but the best developmental outcome as well.

The only thing I have obsessed over more than my son’s tuberous sclerosis complex diagnosis was the possible onset of infantile spasms. Since we had Connor’s diagnosis shortly after birth, we were in an uncommon position of knowing to be on the lookout for this rare and catastrophic seizure type. We…

View original post 998 more words

Relieved after talking to the neurologist.

Feeling much better this morning after an appointment with Connor’s neurologist. We were dismayed to hear about changes on the ERG, but I really freaked out yesterday when his medical assistant mentioned in an e-mail that he wanted to discuss the ketogenic diet. The ketogenic diet is no joke–read here–it involves hospitalization to start it, measuring everything he eats and it’s more extreme than Atkins. I have never wanted to do the keto diet and have always hoped it would never even be a consideration.  Don’t get me wrong, it’s not off the table and I understand why people do it, and some have great success, but it just seems like a nightmare to me. I hope to find seizure control another way.

I was really freaked thinking we were going to be told Connor MUST come off the vigabatrin immediately and that the keto diet would be on the immediate horizon. Thankfully, not the case. While a change on the ERG is reason for concern and close monitoring, our doctor said to also take it with a grain of salt. Many parts of the country, people aren’t even doing these because it’s somewhat unreliable at this age. It can’t tell you how much vision is being affected, if at all, only that the retina isn’t responding quite the same way with one of the wavelengths or something–honestly I don’t understand it well enough to explain it. Sometimes, later tests go back to normal and it was just an anomaly, and yes, sometimes the peripheral vision is affected, but the positives of the meds outweigh the negatives. In his experience, most of the time a kid has gone off due to changes on the ERG, they ended up back on it because it was simply the most effective med for them. Unfortunately, keeping the seizures at bay must take precedence over perfect vision. If it was an issue of blindness, I’d be much for freaked out, but hopefully, if he does suffer any loss to peripheral vision, he will learn to compensate.

We do have to decide if we go back for another ERG in a month, or wait the standard three months. He didn’t seem to think it was worth the sedation to go back in a month, though. Obviously, we could have to face decisions over again if we continue to see changes, but hopefully that won’t be the case.

As far as the keto diet goes, he brought that up more as a possibility, and he felt the modified Atkins diet was equally good (and less insane–my words, not his). We will revisit that in a few weeks after we see what happens with the increases in Onfi. We are also finally weaning Keppra- the drug that has been the unchanging constant through all this. We’re not sure it’s really doing anything, so we’ll monitor and see what happens.

He also said down the road, there are other drugs we haven’t tried, though he can’t vouch for them when so many have failed. And we can also revisit surgical options as well as VNS. VNS doesn’t thrill me, as I haven’t seen as much success with that online as I would like for such a major surgical/implant intervention. What is VNS? Read here. That being said, like any treatment, one person’s fail is another’s miracle.

Please cross your fingers for the vigabatrin/Onfi combo and no further change on the ERG!

Last night, we attended a meeting with a Met Life rep regarding financial planning for special needs. The truth is, we don’t know where TSC will have Connor as an adult. Maybe he’ll be doing great and self-supporting, but we just don’t know at this point. So it was time to look into how to plan for the possibility that he may not live entirely independently, possibly because of cognitive issues, or maybe because of health/epilepsy issues. Thank goodness, we did! It’s pretty easy to complicate your child’s situation and have no idea you are doing so. If you have a child receiving any government benefits, such as Katie Beckett or if they are over 18 on SSI, if they inherit anything adding up to over $2,000 they can lose their benefits! Who came up with that number as a cutoff? Seriously? And can so easily happen by accident–savings bonds purchased for them by a relative, naming them directly on a will, putting them as your life insurance beneficiary, or just not having a will and they automatically inherit. Once those assets are spent, they can reapply, but those of us who have applied for such things know how nightmarish it can be. And losing them even temporarily can wreak havoc. The presenter shared a story of a woman in her 50s or 60s living in a group home supported by Medicaid. She had been there for a long time. When her parents passed, they had no will and she inherited what they had, which wasn’t much. She had to move out of the home, and within a few months the assets were spent. She could then reapply, but her spot had been taken. She lost her parents and her home.

We will have to have a special needs lawyer help us with a special needs trust that will protect him from anything like that. Anything that he inherits must go to the trust. That way, if he’s receiving any benefits they won’t be affected. Don’t worry, the government gets theirs. This kind of trust is taxed at one of the highest rates, in case you were worried they’d run out of barricades for our national monuments.

 

 

298465_187704037963818_1579148_n

Join us for a meeting with new Atlanta TSC clinic director, Dr. Wolf!
Sunday, November 10, 2013
2 – 4 p.m.
Mount Vernon Baptist Church
850 Mt. Vernon Hwy NW
Sandy Springs, GA 30327

Dr. David Wolf will be spending his afternoon meeting the local TSC individuals and families of the TS Alliance of Atlanta/North Georgia. Join us for this valuable opportunity to meet both Dr. Wolf and other local TSC individuals and families!
There will be light refreshments available.

RSVP to Becky pin.the.map@gmail.com

Remember when I gloated that we were done with vigabatrin? Oops.

Note: So I wrote this blog yesterday, but was unable to post it. “Why is that?” you probably didn’t ask…well, you know how Comcast never wants to come out the day you need them, or they give you a window of say, 4 to 8 p.m. and show up at 7:59? Well, try canceling your service. THAT they can do not just on time, but BEFORE you asked them to. Way to make a random burst of efficiency another aspect of your subpar business model. There is an update at the bottom from this morning. 

It was a grumpy weekend. We’ve been packing the house, getting ready to close on Friday, and I’ve not been able to summon any energy or interest in the process. Plus Connor’s seizures have been increasing. We were concerned a couple weeks ago when he had eight in a day. Then this past Thursday he had 13. Earlier this year we went a couple months with nothing! We had this beautiful period of time when we didn’t even touch our —Seizure Tracker App— What is going on? Then this happened:

photo-1

See that? Do you? 50 seizures in one day? What. The. Hell. Was. That.

A few possibilities. 1. We weaned him off Sabril (vigabatrin) a couple months ago and maybe that was a mistake? They’ve been increasing ever since. 2. Since Trileptal failed, we have been weaning him off and starting Onfi. Maybe he just hit an all time low of meds in his system as a period of time of low trileptal as we weaned and low Onfi as we started intersected.

Maybe there is still a chance Onfi will work? I hope so. We will obviously go back on vigabatrin if we have to, but I would really rather not with all the eye appts and ERGs that go along with it due to the risk to peripheral vision.

I called his neuro on Saturday when this was happening as someone is always on call. Everything always happens on weekends, doesn’t it? All those months I laid awake in fear of the onset of infantile spasms, I thought, I know they will start on a Friday night. They did. Thank God, that was how I discovered they have someone on call on the weekends. This weekend, however, it was someone covering for them, not his regular neuro or his partner that diagnosed him and also knows Connor well. He had me administer Klonipin 2x daily to get us through the weekend. I just got off the phone with Connor’s neuro and we discussed the concern of whether these could be spasm related, so I sent him the videos I was FINALLY able to get this weekend –these seizures come on so fast it has been a pain– and he went ahead and increased the Onfi.  Coincidentally we have an appointment with him tomorrow morning, so hopefully we can figure out a plan. My guess right now would be that we’ll probably give Onfi a little longer, since the seizures haven’t been AS crazy as Saturday and if we don’t see a change soon, back to vigabatrin. That’s my guess anyway. We’ll see in the morning.

I just don’t want anything setting him back. He’s doing great. He has gained so much in the last couple months. He only just started crawling and now he’s pulling to stand. Last Thursday in physical therapy we worked on showing him how to pull himself all the way up because he was only getting as far as his knees. The very next day he did it twice. And once again, we owe it to Emma Cat. His relentless pursuit of the most tolerant cat on Earth inspired him to try and get up the stairs. Getting mobile has really triggered his curiosity and he wants to get into everything. We don’t need a bunch of seizures slowing him down!

We also got his MRI results back from Boston. No growth! He has no SEGAS fortunately, and his SENs remain small. I’m waiting to receive more feedback on the tubers. Now that’s he older we should be able to get more details on the number of tubers and their precise locations. Hopefully this will help us target any potential issues he might have. For example, if he were to have one in his speech center, we would know that language development needs that much more attention.

The weekend wasn’t all bad though. My first planned event as the Chair of the TS Alliance of Atlanta/ North Georgia was Sunday. It was fun and I learned a lot about planning an event…haha. Some big lessons learned. But thanks to all who came out!

IMG_4929
IMG_4928
IMG_4927
IMG_4926
IMG_4925
IMG_4924
IMG_4923
IMG_4914
IMG_4913
IMG_4911
IMG_4908
IMG_4920
IMG_4919
IMG_4917
IMG_4916

IMG_4931

The movers come tomorrow to get us out. We will be staying with my parents in the meantime. My plan is basically, walk in the door, hand Connor to them, go to bed, wake up when Chris has unpacked everything in the new house.

What could go wrong with that?

Update: The house is empty! I felt kind of sad to see it…our first family home 😦

We had our neurology appointment this morning. After seeing the video, he felt they were epileptic spasms, and they clearly started to surface after he was initially weaned off vigabatrin. So back to the vigabatrin we go. Oh well, anything to stop the seizures. As much as I don’t enjoy mixing the packets (why can’t this med be made stable enough to come pre-made in liquid form!) or the regular eye appointments, it’s the ERGs I really don’t want to deal with. Ugh. But you gotta do what you gotta do.

So the plan is to start that, stay on the Onfi, and once we see a difference we can start weaning him off Keppra, one of the meds he’s been on almost since birth.

Tomorrow morning I get the joy of taking Connor to a 7:40 am eye appointment. It was to be his final required eye appointment due to his vigabatrin prescription. Now I get to hand him the paperwork to start all over again.

As Adam Sandler would say, “Whoop dee doo!”

Unknown