Tag Archives: vigabatrin

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.

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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.

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With Aunt Donna.
With Aunt Donna.

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

 

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CONNOR

NICHOLE MONTANEZ

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CONNOR

Connor was born in March of 2012. Ten weeks prior — at the 30-week ultrasound — we were told there was an irregularity of some sort on the heart wall. The explanation was vague. It might be nothing, or it might be <insert a bunch of big words we had never heard before>.
Tuberous sclerosis complex was mentioned as a possible cause, but it was such a vague maybe that we dismissed it when we Googled the stats. One in 6,000 live births. Well, it couldn’t be that. I was monitored carefully until Connor was born, but whatever was in his heart never grew or affected the heart function. Everything seemed normal until a few hours after delivery. That was when a nurse in the nursery realized he was having seizures. The next 37 days were spent in the NICU. The seemingly benign heart abnormality was confirmed as…

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Connor is a fish.

We just got back from a week in Venice, Florida at Chris’s parents’ house. Since Connor has weekly aquatic therapy, I was hopeful he would enjoy the pool this year, but I honestly expected he’d maybe get in a couple times and be done after 20-30 minutes. Not so. He was in every day with us the whole time. In fact, he quickly learned that once the safety fence was down and at least one adult was in the pool, that was his cue to crawl over, turn around backward about two feet from the edge and back into the water until he hit the step. Aquatic therapy has given him great confidence in the water. Too much actually. He constantly wanted to break free from us and his flotation devices to do his own thing.

It was a great week sandwiched by two crappy seizure days. He did great after we upped his vigabatrin a couple weeks ago, then he had another awful day in which he only had two or three clearly identifiable seizures, but was just off the rest of the day, weak and had a hard time moving. Bad seizure days always wipe out his arm strength, so even if he gets motivated to move, he ends up with bruises lining his forehead. Sometimes his chin takes a hit, too. And once he’s motivated, it’s hard to stop him. We try to keep him on the carpeted areas, but he always gravitates to the hardwood.

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We upped his vigabatrin on Sunday morning and the next several days were great. Then Thursday night he woke us up crying, which is very rare. For the second time ever, he had what I guess would be classified as a partial seizure? One arm was extremely stiff and unmovable. He cried until it stopped. I stayed in the room and slept with him and he had 2-3 more of those that would wake him from sleep and make him cry. He also had three tonic clonics throughout the night. I always thought a partial seizure would be a better type to have because it’s just a body part and you are aware, but instead those seem the worst for him–but I don’t know if he cries because it hurts or because it scares him. So Friday he was rather off and not as energetic as usual, though he did perk up the second Daddy got in the pool and commenced his backward scoot. I slept with him again Friday night, our last night in Florida. He didn’t have any seizures until we woke up to leave, but as soon as he awoke he had a short tonic clonic. I thought he was done, but then I noticed his eyes flitting back and forth in a weird way and his eyelids twitching. I waited it for it to stop. And waited. Chris came in behind me. It kept going. Nobody spoke out loud, but a basic summary of our thoughts is as follows:

Oh my God. This is it. His first status seizure,

We’re not going home; we’re going to the hospital.

I don’t want to have to move to Colorado. Are we going to have to move to Colorado after all?

And just as I think we were both struggling to make the call that it was time to head to the ER it stopped. Not a status seizure, but one of the longest he’s ever had. And if we hadn’t been leaving and turned on the lights, I don’t know if I would have known it was happening. We don’t have a prescription for Diastat (an emergency med), but I think it’s time to talk to his neuro about it. Just in case. We have Klonopin on hand in case of clusters, but he can’t swallow it in a situation like this.

Florida, I’m begging you to get your MMJ program up and going. You’ve passed the oil, and I hope you will pass Amendment 2 this fall. And it goes without saying that if Georgia does it too…

Last night his motivation was present, but not his arm strength so it was a battle to keep him in carpeted areas. I’m happy to report this morning is much better!

Good morning, everybodeeeee!
Good morning, everybodeeeee!

I will leave you with pics from our awesome week in Florida:

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Dirty Banana at Sharky's.
Dirty Banana at Sharky’s.
We borrowed Chris's parents' "fun" car for date night.
We borrowed Chris’s parents’ “fun” car for date night.
Getting hot dog's at Anita's sandcastle.
Getting hot dog’s at Anita’s Sandcastle.

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Checking out the manatee at Mote Marine.
Checking out the manatee at Mote Marine.

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Headed home.
Headed home.

 

 

 

 

I got soaked at the Hose the House fundraiser for Journey of Hope.

This last week did not get off to a great start. I’ve mentioned we’ve had some issues with an increasing number of seizures breaking through in spite of the modified Atkins diet. We finally bit the bullet and raised his vigabatrin dose Tuesday night when not only were we seeing him have 2-3 a day of his typical seizures, but then he also appeared to be having some sort of activity with no clear stop and start — he just wasn’t right. His eyes would look unfocused and he was physically weak. Sometimes after a rough seizure he has trouble moving around and his arms can’t support him when he crawls, but that’s not always the case and it usually goes away in 30 minutes. But he was like this for three days. I had hoped the diet would be successful enough to allow him to wean meds, but it appears he needs the combination of a therapeutic dose of vigabatrin with the diet. He had gained five pounds since the last time we adjusted his meds, so clearly vigabatrin is just far too essential to his well being. We have now gone four days without seeing any seizure activity since the upped dose and he’s back to his normal active self — a great relief as the idea of possibly having to relocate to Colorado had started rear it’s ugly head again. We are trying to hold on with traditional medicine until the option of medical cannabis is available closer to home.

After all that, it seemed like an appropriate way to end the week by taking part in the fundraiser for Journey of Hope, a charity started by Rep. Allen Peake (who sponsored HB 885 this past session in an unsuccessful attempt to legalize CBD oil here in Georgia) to help families, who have exhausted traditional medical approaches to treating their children’s seizure disorders, relocate to Colorado to get the medicine they need. It all started several weeks back when Kim Clark challenged Corey Lowe to the cold water challenge, a method of raising money for charity via the Internet that has gone viral recently. Kim (a mom from Georgia treating her son Caden in Colorado) challenged her on behalf of Realm of Caring, the nonprofit that has become famous for providing the strain Charlotte’s Web to sick children at a reasonable cost. Corey (a mom from Georgia who will soon take her daughter Victoria to Colorado) chose to challenge more people on behalf of Journey of Hope which started the chain of events that led to me floundering my way into an inflatable pool ring in an Olympic sized pool Saturday morning in the Hose the House for Hope event.

Several representatives, senators and Georgia law enforcement officers accepted the challenge to raise money and participate, jumping into the pool to swim out to the moms from families that were involved in fighting for HB 885. You could also pay $50 to douse a participant of your choice in ice cold water. Oh, and some of the dads dressed up…but I’ll let the photos do the talking on that.

I am happy to say that this much money has been raised so far:

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If you are interested in making a donation, please check out the web site for more information — Journey of Hope.

Most of the photos are mine, but a few are borrowed from Facebook…please let me know if you want credit for a photo. I didn’t pay attention when I snagged them 🙂

I'm impressed my pasty white legs didn't blind anyone.
I’m impressed my pasty white legs didn’t blind anyone.

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Oh, and those dads I mentioned…

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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…

 

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

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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.

I despise mail order pharmacies.

I had a full bottle when I started the process of refilling. Now I have this.
I had a full bottle when I started the process of refilling. Now I have this.

Really? I finally get Accredo out of my life, and now my insurance makes me get Onfi from mail order Optum Rx, even though it’s available locally. And what do they do? Take forever to process his upped dose on a new prescription and then just throw it on a UPS truck NOT OVERNIGHT, but 3-5 business days SIGNATURE REQUIRED, without coordinating a delivery date with me, all for it to be delivered two days after we run out. So here is my morning making phone calls coordinating getting an emergency supply. I DESPISE using mail order pharmacies. I started the process of his refill as we opened the current bottle. I thought an entire bottle of Onfi would provide sufficient time for a refill.

When I established on the phone this morning that the vague 3-5 business days would fall into the “too late” category I was transferred to someone who would help me get an emergency supply locally. Well, okay. I can deal with that. Until I realized that actually just meant I handle everything as usual and would have to do what I was already planning to do out of desperation. Call local CVS and beg for mercy. Call neuro and beg for emergency prescription to be sent over. Wait for everyone to coordinate everything and deal with initial insurance rejections and getting override codes.

Not to worry. CVS has assured me they will hook me up with emergency doses as needed because the prior approval needed to give me this “emergency” dose actually takes three days.

It sounds so pretty doesn’t it? Have your medication delivered right to your door! Don’t ever do it if you have a choice! My heart medication — the ones I’m going to need from all this in the future — will probably only be available through mail order.

To CVS Caremark Pharmacy that currently handles Connor’s vigabatrin: We have something special. Please, please don’t ever break up with me. My heart couldn’t take it. No, seriously. If you fail me, too, my heart might give out. I’m begging you to keep loving me.

On another note, I had a voicemail the other day from someone at Express Scripts in regards to my blog about Accredo. They are looking into the issues I shared. The day got away from me yesterday and I didn’t get a chance to call her back, but I appreciate that it is getting some attention there. I need to get some coffee and breakfast in my system to return the call. Oh, and Connor’s permission.