I got a really aggravating phone call yesterday. It was the opthalmologist’s office after they reviewed Connor’s ERG from last Friday. Connor is supposed to undergo a sedated ERG every three months (description here) because he is on vigabatrin- a powerful seizure medication with the potential side effect of loss of peripheral vision. He was on it for nine months previously for infantile spasms. We weaned him off and began to see increasing seizure activity–complex partials, which vigabatrin is also used for. So we went back on it. Connor had two ERGs the first time around. Being that it is sedated and requires an IV, it is no simple procedure. It is handled by day surgery. So we didn’t adhere to the every three months suggestion. We chose not to have an exit ERG when we stopped because the first two ERGs showed no change or issues. We figured at that point, why put him through that, when it won’t change anything? Even if there had been some changes to his vision, he wasn’t having issues and it can’t be corrected. We had no reason to think there were any issues anyway. While there are definitely some stories of kids with some loss of peripheral vision, the stories of no issues seem to outnumber them. That is purely anecdotal by the way–not evidence based–just my experience online. So we don’t know if this occurred last time we were on it, or in the short amount of time this round.
I was so sure we would never have an issue. But the eye doctor reports “minor changes” likely related to the vigababtrin. The neurologist’s office referred to them as “early signs” that the vigabatrin is causing changes. That’s as much as I know. Connor’s primary neurologist is out of the office until Thursday, but we actually already had a followup scheduled Friday morning anyway, so at that point we will have to discuss our options.
Connor is not going blind, to be clear, but nobody wants to see any damage to their child’s vision. But I’m so frustrated. We’re seeing improved seizure control since restarting vigabatrin. Control we couldn’t get with Keppra or adding Onfi, and Trileptal was a total fail. Phenobarbital was used early on, but needed other meds added and is not the drug I want him on anyway. He was on Dilantin for a bit, but when his levels were checked they were nothing, like his body just ate it up (He’s currently on Keppra, Onfi and vigabatrin).
The issue was a no-brainer when we were dealing with infantile spasms. I wouldn’t have even considered taking him off, even with vision loss, because of how dangerous those are. But now that it’s complex-partials, I don’t know what to do. I mean if nothing else will control it, we need to stay on it and hope there are no further changes. He can’t have seizures all day long. But can there be something else that will work?
I just hope his neurologist has a strong idea of what direction to take, because to be honest, I don’t feel equipped to make the call.
I love a good sunburn with such ridiculous lines, that most of my wardrobe will fail to hide my stupidity. But rather than take responsibility for my failure to apply sunscreen anywhere but my face, I will instead blame the organizers of the annual Miller Lite Chili Cookoff for moving it from the tree-filled shady location at Stone Mountain Park to the the black asphalt parking lots of Georgia International Horse Park in Conyers. No trees. Just asphalt. I will give them credit for a larger space that made it easier to walk around, but I’ll push people out of the way if it means the return to the sheltered haven by the park.
We like to go every year, but we missed last year–the final year at Stone Mountain–for a most hilarious reason. My mom went to the ER. Yes, I just referred to my mom going to the ER as hilarious. You read that right. Ok, it wasn’t hilarious at the time–at least not for a few hours–but it’s an interesting story. It had been a stressful few months with Connor’s time in the NICU and diagnosis, and that morning, another stressful issue (nothing to do with Connor or us) came to light. I called and talked to my mom about it that morning. About an hour and a half later, we arrived at my parent’s house to drop Connor off. This was the first time we had ever come over that my mom didn’t come out to meet us at the car (something I often like to point out she never did when it was just me coming over). When she finally came downstairs, she looked surprised to see us. “What are you doing here?” I thought she was joking. I reminded her they were babysitting while we went to the cook off. “Did I know about this?” she asked, confused.
Forgetting Connor was coming over? Yeah right. Something is weird. She usually only blocks out memories that involve me as a teenager. She looks at Connor and says, “Oh, aren’t you cute,” in a way that indicates this is some random baby mysteriously propped in a chair in her sunroom. My dad and I look at each other. Then she asks why we’re there again. And when we answer her, she clearly doesn’t remember that we just told her. She also can’t remember what she had for breakfast, where they went for breakfast or what neighbors they ran into while they were there. She’s asking the same questions over and over, and clearly isn’t forming any new memories. And me? Great. I realize when I called her that morning I gave my mom a freakin’ stroke.
So rather than downing 900 samples of chili, we head to the ER. My mom keeps asking us the same questions over and over. She’s on a repetitive loop. Then she declares, “I’ve had a stroke! Self-diagnosis for you!” She repeated that roughly 647 times by the time we reached the hospital, and thought she was figuring it out for the first time every time. Once we reached the hospital, since she wasn’t able to retain new memories, she kept thinking she just woke up there and continued asking the same questions. It was the weirdest thing because she was looping like a tape recorder. Same comments and questions, same intonations, same jokes. Blood pressure was off the charts. Scans, an MRI, and a few hours of me battling the urge to video this insanity with my phone, and they come back with an answer. No stroke. In fact, everything looks great. Diagnosis: transient global amnesia. Lasts roughly 24-hours and can be caused by a stressful event. She will completely recover, and it is unlikely to reoccur. It is also extremely rare. Yay us and our predilection for weird rare medical crap. It’s particularly weird because though you forget a big chunk of time and events, you don’t forget the basics, who you are and the basics of your life. So sadly, I was unsuccessful in convincing her she had promised to gift us $25,000 and turn over the keys to her ’66 Mustang.
So then the rest of the day could be spent repeating what was wrong with her when she would ask every three minutes. “Well that will teach you to call and give me bad news again!” I heard that 87 times before we left the hospital. At this point I was embracing the hilarity of the situation since I knew I hadn’t caused irreversible damage to my mother’s head. Regrettably, I did not record her at all. Though you can find YouTube videos of other people with this, and they pretty much sound the same. Hilarious that is. Especially hilarious, since she was going home with my dad who would have to field the questions for the next several hours. I did write a bunch of stuff down in a notebook though so my dad could tell her to read it when she looped.
Some people will do anything to get out of babysitting.
We’re pretty settled in the new house at this point. The dining room is still a mess, but pretty much everything else is in place. Chris has informed me he will not be meeting my two-month deadline to paint the entire house. He seems to think a year is more appropriate estimate for completing all the rooms. “But Becky,” as my friend Cat said, shaking her head “you stay home. Can’t you paint?” HAHAHAHAHAHAHAHAHAHA! Have you met my husband? I paint like I vacuum, it would seem. Willy nilly without leaving straight lines. I am but a hander-upper of necessary supplies.
Connor now has his very own playroom downstairs. It is chock full of fun and goodies for him, and secured so I can get stuff done. So what does he do?
How am I supposed to get stuff done when he looks at me like that?!
Then his favorite toy, his jumperoo, finally gave out after extended use past the weight limit. It was a sad day. This is how he uses it now:
I also decided the room I initially chose to be his was too small, so Chris got the honor of disassembling the crib again to move it. I’m delightful to live with.
Connor recently had a 30-minute EEG at his neurologist’s office, just to check in on the general state of things. Lo and behold, he actually had a seizure on it. Seizures are famous for not cooperating with EEGs, so getting one on a 30-minute test! Whoa. His neuro now believes what we have been seeing are complex-partials, pretty much what we’ve always battled, aside from infantile spasms. They are decreasing since putting him back on vigabatrin and hopefully we’ll get the just-right doses of vigabatrin and Onfi soon. He had his first ERG in quite some time on Friday. I’m not sure if he’s planning to be Miley Cyrus for Halloween or if he’s expressing his distaste for the boring peach-colored gown (where are my rockets?!).
I’m still on my fruitless quest to get a detailed report from Boston on his MRI back in August. We have the basic results of no growth, but we’re also supposed to find out how many tubers, SENs and specific locations. So I will continue on my 9,000 phone calls quest that every person who deals with a medical issue knows so well. Why does everything have to be so hard with hospitals, pharmacies, insurance, doctors… The only doctor’s office that I feel comfortable with response time is his neurologist. But I have to play games with:
the hospital in Atlanta
now apparently the hospital in Boston (which saddens me cuz I gave them props earlier this year)
the mail order pharmacy
I hate when I like a doctor, but staff makes life hard.
My parents just adopted two kittens, and they seem even more fascinated by Connor than he is with them. And he loves kitties.
Sunday was my birthday. A lot has happened in my 23 years. (Shut. It.) Pretty mellow affair that started with brunch with Chris and my sister-in-law Donna and dinner at my parents. It ended festively while I was in the shower that night and heard Chris yelling “Becky!” Oh my god. This is it. We’re going to the ER. Connor must be having a status seizure–something we’ve never had to deal with. I run down in my towel…nope. He vomited. Everywhere. On himself. On Chris. On the floor. On the new couch. So emergency bath time and snuggling. He was fine. Fortunately it was only once and he was perfectly fine before and after. Which makes me wonder if this is the stomach of a toddler issue or a vomit seizure. Either way, he’s great now and expending his energy on keeping me from doing vomit laundry.
At least he’s helping spread Halloween spirit.
If you need me, I’ll be following doctor’s order somewhere:
My sister-in-law knows how seriously I take my health so she gave me this bracelet for my birthday:
Happy anniversary to my parents!
Informational meeting on financial planning for your special needs child this week! Wills, estate planning, a chance to ask questions, etc.
Thursday, October 10 at 7:00pm
Mount Vernon Baptist Church 850 Mt. Vernon Hwy NW Sandy Springs, GA 30327
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:
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!
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.
Today started with me wanting to go into a near rage. Last night we discovered a house in the next cul-de-sac over–we live in a very small neighborhood–just went on the market. We were not thrilled. This morning it was online. Bigger. Same price. I wanted to knock on the door and punch the owner in the face. Pictures didn’t go up for a couple more hours, but after driving by a couple times, and finally seeing the pictures this afternoon, I can offer the unbiased opinion that their house sucks. Sure, they have a little more space, and a little more granite, but ours has better curb appeal and better lot. Plus I emptied a container of termites onto the property. Okay, not really, but I wanted to.
The very first person that looked at the house this week was a guy that loved it. We were unable to leave as his tour overlapped Connor’s in-home speech therapy, so we just sat on the porch until the therapist arrived. After the realtor left, he even came back and knocked on the door and asked about the neighbors. Then he brought his wife back that night. It just seemed too easy, right? I was nervous about the wife, and was right to be. She is said to have liked it a lot, but thought the living room too small. Ugh, women! Am I right? They only need to be in charge until it doesn’t benefit me. 🙂
I’m feeling a little better about it this evening though as we have another repeat show coming in the morning. A person who toured it this morning has it in their top 3, so fingers crossed.
We met with Connor’s neurologist yesterday, and we’re very excited that we are now weaning him off Sabril (vigabatrin). This is the med he started due to infantile spasms last September. His spasms have been controlled for quite some time, and we are hopefully past that hurdle. We’re really hopeful we’re done with this med. He’s still on Keppra, and now he’s starting Trileptal since he still has what we think are complex-partials that consist of him clenching his teeth, going slightly limp (not losing consciousness), puckering his lips and staring to the side for 10-20 seconds. We see roughly 1-2 a day, and some days none. The vigabatrin wasn’t curbing those, so since the spasms are done, no need we hope. He snaps out of them quickly and they don’t have the lingering effect of other seizures and make him fall asleep.
No more mixing those stupid powder packets, hoping UPS shows up with the meds, and no more ERGs and ophthalmology appointments! Since vigabatrin poses risk to peripheral vision, anyone with a prescription is required to have frequent eye exams and ERGs, which require him to be knocked out at the hospital. Fewer trips to Scottish Rite? Yes, please!
I recently discovered that insurance is being billed $7,000 a month for this particular prescription. And herein lies the heart of why our medical system is so jacked up. We’re so worried about everyone getting insurance, that we’re not paying attention to why everyone needs it so desperately in the first place. Big profit. The jacked up cost of medical care in this country, plus the complete lack of rhyme or reason to why things are priced the way they are, and the lack of uniformity in these prices is the problem. It took a very disturbing recent Time Magazine article to even make hospitals accountable for making their chargemaster lists public. Where else do we walk in to make a purchase completely blind to what kind of charges we’ll be facing in the end?
Sabril (vigabatrin) only received FDA approval a few years ago. Before that, most people got it from Canada. A months’s supply was a couple hundred bucks (I’ve seen people mention figures ranging from $100-$500 per month on the TSC boards). Since it was not approved, it was not covered by insurance. Now, that is a heavy fee on a monthly basis, but what can you do? Insurance isn’t going to pay for a non-approved drug. Well, then it got approved. How nice! Now insurance can pay for this important med that costs hundreds of dollars. Oh, but now it suddenly costs thousands! Now, I will say the manufacturer has a program called SHARE which offers co-pay assistance, so this drug that would probably cost people like us an astronomical co-pay of a grand or more, is actually affordable. We only pay $30. Some people pay nothing. I’m not aware of anyone being turned down. But it’s still profitable. Obviously this drug costs nowhere near $7,000 if Canada can sell it for a fraction of the cost. So even if insurance cuts a deal to pay only $4,000, and the patient gets a pass with the assistance program, those are big bucks. Connor’s last 3-day EEG
cost $12k just in room and board. And I couldn’t even get them to bring him a damn band-aid.
On a different note, I don’t know what rock I’ve been under, but I just became aware of the fact that Colin Farrell’s son also has a rare genetic disorder, even more rare, called Angelman Syndrome. I had only recently become aware of this disorder due to a Facebook page I follow of a woman whose son has it. I think it’s really awesome that he is speaking out about it and bringing attention to rare disorders. He recently spoke at an epilepsy event, as seizures are something that TSC and Angelman have in common. Very cool.
My husband and I learned that we were pregnant in the late spring of 2007. Married just two years, we were a bit surprised, but honestly thrilled beyond words. We had a ton of fun preparing for our new addition, even despite the fact that I was so horribly nauseated for the first five months that I lost 12 pounds. Her development, however, was always right on track, and every test and check-up went well. Just a month before her due date, we decided it would be fun to get the new 3-D ultrasound photos that we kept seeing at the doctor’s office. We ended up trying three different times. Every time we went, the baby had her arms up around her face, completely covering every feature. The first time was kind of cute. The second time was a little frustrating. The third time I asked the technician, “Isn’t it a little unusual to have her arms up every time?”
“Yes,” she said, flat out, “I’ve never experienced this before.” I remember my heart went into my throat. Could something be wrong? The doctor dismissed my concern later, telling me not to worry. I tried not to.
The next thing I knew my delivery date was around the corner but the baby was in breach position, so a C-section was scheduled. In late January of 2008, we were blessed with our beautiful daughter Avery. The surgical delivery went well, but within an hour of her birth, I was surrounded by a number of doctors with very serious faces.
They were concerned because it appeared that our precious newborn was having small but frequent seizures while under observation in the nursery. They bombarded me with a million questions at once. “Was she seizing in utero?” is the one that still stands out. WHAT?? What does that feel like? This was my first pregnancy. She kicked a lot, does that count? Were there other signs I should have noticed? I was stunned. Immediately, the doctors sent her away to a bigger hospital with a higher level N.I.C.U. I remember my delivery doctor turned to me and said, “I’m sorry,” before walking out the door, not to be seen again.
My husband and I were absolutely shocked and terrified.There was no holding, cuddling or bonding. I tried to recover quickly from surgery, all the while imagining my baby girl across town under the care of who knows who, doing who knows what. Complete and utter torture. This was when I started thinking about the genetic condition that runs in my husband’s family. We were told previously by family members that we should not worry about it…that it was basically no big deal. Then I heard someone at the hospital say it for the first time. TS. Tuberous sclerosis. We hadn’t a clue.
I broke out of the hospital early and rushed to the N.I.C.U. I couldn’t believe how tiny she was, hooked up to so many tubes…all of the nurses knew her name. My Avery. They already knew so much about her. They’d spent so much more time with her than I had. It felt so strange. At first glance, she looked pretty and pink, sleeping peacefully like a typical newborn. And then I saw it. All of a sudden, she puckered her little lips, turned bright red, and her right arm extended straight out. It faded quickly, but there was no mistaking that she was seizing. Nothing could ever have prepared us for what happened next.
We were shown into a large meeting room across the hall. A doctor sat across from me and five or six med students and residents sat next to her. I’ll never understand why they were invited…why they needed to sit and watch this intrinsically personal experience unfold. They never spoke, just watched. The doctor slowly explained to us that Avery had been born with a rare genetic condition called tuberous sclerosis. Benign tumors grew willy nilly in her brain and heart. She had many of these growths in the left side of her brain, which were causing massive abnormalities and resulting in seizures. She also had a few in her heart, but they were not affecting her breathing, and we were told they would eventually disappear. Small victory. The ones in her brain, unfortunately, would not just go away.
So that’s when Avery’s brain surgeon appeared. Yep, my daughter has a brain surgeon. Surreal. And that’s when we found out that our newborn needed a radical brain surgery that was meant to end her seizures, or she would not survive: a hemispherectomy. The two sides of the brain would be disconnected from each other, and large portions of “bad brain” would be removed from the left side. Before we could even begin to digest this information, the surgeon went on to explain that he had never performed this surgery on a baby less than nine months old, and most of his colleagues had told him he was crazy. But that it was her only chance.
This is the part where I have to pause and breathe. Because more than two years after the fact, I can still feel the residual effects of this man’s words pulsating through my mind and body. I can still close my eyes and remember the breath-stealing sobs I cried as I said goodbye to my week-old daughter and heartbrokenly handed her to the nurse that would take her to the operating room. We waited hours and hours, hardly breathing, wondering if we made the right decision. It was, and Avery did beautifully. Her strength amazed us. It still does! She was in and out of brain surgery three times in her first month of life. She came home after one month and five days in the hospital, eating on her own, cooing and wiggling. The seizures had completely stopped. We had renewed hope, renewed faith. Her future appeared so much brighter.
We were told by the doctors that there was really no way to predict her future as far as cognitive and physical ability; but the upside was that the earlier the surgery, the better– i.e. giving the “normal” side of her brain time to take over tasks that the opposite side can’t handle anymore…and we couldn’t have done it any earlier!
Avery actually needed two more brain surgeries, at three months of age and at five months, before the seizures stopped returning. She continued taking Vigabatrin (Sabril) for the next four years as a back-up, in case they did try to come back. It was the only drug that had ever slowed down her seizures before.
For four years, Avery thoroughly enjoyed a total break from seizures, as did her parents. We were busy attending to her other many needs, like the fact that the surgery had resulted in the left side of her body being extremely weakened (hemiparesis). No one ever mentioned this side effect before surgery. It was then, and is now, our biggest challenge among many. When she was still not sitting up by herself at 18 months and after lots of therapy, we knew we needed a lot more help. We were lucky enough to find an amazing, private special needs preschool that had experience with children just like Avery. They taught her to sit and scoot. They taught her sign language, how to drink with a straw, and how to use a fork and spoon. And they continue to teach her now. I don’t know what we’d do without these amazing teachers that love my daughter for exactly who she is, and not what she lacks.
Sadly, this past year the seizures returned. We were devastated of course, but not surprised. We knew it was a miracle that they stopped for as long as they did. They are under control again now with new meds: Onfi and Vimpat. She seems a little more tired now, but overall a happier disposition.
Walking is still our biggest goal. The left side of her body just doesn’t want to cooperate! Although still extremely developmentally delayed, her cognitive skills continue improving. No words yet, but lots of sounds. We have three PT’s, two OT’s and two SP sessions every single week, on top of her school “work.” Avery works harder than any kid I know, and she does it with a smile. She has taught us endless lessons about love, grace, and the simple joys in life. Almost two years ago, we were blessed with another sweet girl! A healthy, TS free little sister, who dotes on her older sister.
As many special needs moms have said before me, it’s impossible to focus on the future right now. In order to get there, we have to focus on today. Today she is healthy, happy and working as hard as she possibly can to reach her potential. What that is, no one knows, but we will move heaven and earth to get her there.
By guest blogger Pamela Wolthuis (Portland, Michigan)
My husband Chuck and I were married on May 23, 1997. I brought one beautiful 4-year-old daughter, Melanee, into our marriage. Little did we know on that day almost 16 years ago, that soon we would be on a journey we never expected, and that Melanee would be the only “healthy” child we would have. (Chuck loved her as his own, from the day we met on a blind date that she went on with us. He would eventually adopt her, as soon as he legally could). Less than one year later, on May 17, 1998, we welcomed our son Nicolas into the world. He was the cutest little boy I’d ever seen, and the joy of all of our lives. When he was about four months old, he had surgery for a hydrocele repair. He seemed to be fine, and then all of a sudden he was bringing his legs up to his chest, almost like he was doubling over in pain. He would cry, do this jerking with his legs, and it would go on for hours. Several times we took him to the ER, but by the time they got around to seeing him, he would stop, and they would send us home saying he was fine. We knew something was wrong, but no one seemed to believe us. I called the surgeon, but he was rude and arrogant, telling me, “He is fine. What do you want me to do, cut him open again?”
We took him to the family doctor, who agreed with me that if we thought something was wrong, there very well was a problem that we needed to get to the bottom of. His exact words I can remember to this day: “Pam, you can have a room full of the best doctors in the world, and you as a mom, know more than them about your child. If you say there is something wrong, I believe you.” He sent us on for testing at the hospital. Nicolas was set to have a ph probe, but while there, a resident looked at our baby, said he would like to do an EEG, and would that be ok? We said yes, but thought it was a waste of time. That resident was the one who cracked the case. I can still remember the neurologist coming into the hospital room and telling us our perfect, beautiful baby boy had a terrible disease called tuberous sclerosis. He told us Nicolas was having seizures. He had epilepsy. I vividly remember telling him, “Well, if you know what is wrong, fix it.” He said he couldn’t, that there is no cure for this disease, and that there really isn’t much even known about it. He left the room, and I remember just crying, telling Chuck to “tell him he’s wrong. There’s nothing wrong with our baby’s brain.” Soon another doctor came in, telling us, “All you can do is take him home and just love him for the three to four years you will have him.” Yes, he told us our baby would die by the time he was four. I was inconsolable, and Chuck was feeling like it was his entire fault because he was told he passed the TS gene on to Nicolas. They could tell, just by looking at him and the angios on his face, that he had tuberous sclerosis. The angios that he never had a name for up until that point, that he had always worried his baby would have, but that doctors had assured him were no big deal.
When the neuro came back, he told us the other doctor was wrong, and that Nicolas wasn’t going to die. It took many doctors to convince us that he wouldn’t die, but finally we believed them. The first doctor who had told us didn’t know and had told us the worst case scenario. Nicolas was started on a seizure med that didn’t help. The neuro put him on ACTH, a steroid injection given for seizures. It had terrible side effects and didn’t help our baby. At the next trip to the family doctor, he told us about Dr. Chugani in Detroit, who was a world renowned expert in TS. We were so lucky to be so close to him and were able to get in fairly quick. Nicolas was started on vigabatrin, a drug we couldn’t get here in the US, but had to go to Canada for. Insurance wouldn’t cover it, and it was expensive, so we went into serious credit card debt to obtain it. (More than a decade later, we were still paying for it, and finally had to settle it with the credit card companies, ruining our credit, so that we could afford to live. But we do what we have to in order to help save our children!) It helped, but he still had seizures and was beginning to regress. He was slipping into his own little world where he wasn’t interacting with us anymore. Dr. Chugani recommended brain surgery.
In June 2000, Nicolas had his first brain surgery. It didn’t help his seizures, so we were angry and regretted doing it. Then, all of a sudden, he was interacting again, and our happy boy was back! The surgery was successful, because even though it didn’t stop his seizures, it helped him developmentally. In 2003, we were advocating along with Dr. Chugani for more surgery. The surgical board recommended him, and he had his second resection. This time his seizures decreased. He still had some seizures and was still on meds, but he was progressing.
Fast forward another year…..We finally decided to have another baby, with the thinking that God wouldn’t give us two disabled children. On December 26, 2005, our beautiful Malarie was born six weeks early. Within an hour of her birth, she had her first seizure and was diagnosed with TS. Our hearts broke again, grieving for the “perfect” baby we prayed so hard for. That is what people who have never been on this journey can never fully understand. Although, yes, our babies are alive, we still have to go through a grieving process after a diagnosis. No, our child hasn’t died, but our hopes and dreams for what was supposed to be have died. We are forced into a place we never intended to go. But just like the beautiful essay “Welcome to Holland” teaches us, we learn that we are not in a terrible place, just a different place. So we learn to accept it, and see the beauty and good in it. It’s not a place we willingly chose, but it’s not a horrible place either.
Over the years our kids have seen more medical professionals than most adults ever do. Our list includes a neurologist, ophthalmologist, nephrologist, cardiologist, geneticist, gastroenterologist, dietician, neurosurgeon, dermatologist, physiacist, psychologist, psychiatrist, countless occupational, physical, speech, and feeding therapists, and pharmacists. We also have the whole special education team at school. The kids have had home based therapies, school based therapies, outpatient therapies, and soon, possibly inpatient therapy for our son. We have been fortunate to meet some outstanding professionals, and some have even become our friends.
Today our children are 20, 14, and 7. Melanee is a happy, intelligent college student who has more compassion than most young adults because of the experiences she has had with her “special” siblings. We know without a doubt that she will become a remarkable adult, wherever her path in life takes her. We worry, because when we are gone, she will become the guardian of her siblings, and is this really fair to her? She will be tethered to them, and they will always be a major part of her life. She has never once complained, and has reassured us that she WANTS to care for them when we are gone. We thank God every single day for blessing us with such an amazing daughter! Nicolas is now almost 15, but functions at a 3-4 year level. He is autistic, has behavior issues that can occur unexpectedly at any time, is not potty trained, and may never be. He takes eight different meds for seizures (which are still not completely controlled), behavior, and a nerve problem he just started with after his most recent brain surgery one and a half months ago. He is also the funniest, sweetest boy (when not in meltdown mode) we’ve even known. His laugh is infectious and comes all the way from his toes! Malarie is seven, but functions like an infant. She depends on us for everything. She is on six seizure meds and still has seizures several times per day. Like her brother, she cannot be weaned off any of them, because then she starts seizing constantly. She cannot walk or talk. She can, however, scoot on her butt across a room at an incredibly fast speed, and communicate with smiles and cries. Her smile can light up a room in no time at all.
This is our crazy, roller coaster journey of tuberous sclerosis. We go day to day, sometimes minute to minute. It isn’t always easy, but it isn’t always bad. Our days are filled with laughter, and sometimes tears. We have lost friends, and even family, along the way, who can’t understand or cope with the way we live. Our children will always come first, with no exceptions. We have learned the hard way who we can count on, and who our true friends are. For that, we are grateful. We know the miracle of something as small as a smile, or the quiet babbling of a child. It isn’t a life we anticipated, but it is a life we enjoy, filled with love and acceptance. In the end, isn’t that what everyone is searching for?
One 45 minute test equals 4.5 hours in the hospital.
Ah, the electroretinography (ERG). a routine test you are supposed to have done every three months while taking Sabril (vigabatrin). You are also required to have an eye exam every three months because this particular drug carries a risk of loss of peripheral vision. Sabril has only been approved by the FDA for a few years. Before that you had to order it from Canada. But then it received approval here, the cost skyrocketed, it became heavily regulated, and it’s only available through specialty mail-order pharmacies. Many people resent being treated as if we’re too stupid to understand and take on the risks.
Given the risks, should we keep a close eye on the vision of our children? Certainly. But the intrusive nature of the ERG makes many families angry. It’s no simple test. We took Connor in for his second one yesterday (mmm hmmm, we’re behind schedule). We had to be at the hospital by 9 and get admitted through day surgery for a test that won’t start until 11. Yup, I told you it’s not a simple test. Then there is lots of information gathering, weighing, measuring, and finding a vein for the IV. Connor likes to make things difficult by hiding his veins. He always requires the IV team, rather than a regular nurse. Then we take him down to the room where they will place contacts in his eyes that test his reactions to stimuli. But he won’t be awake. He must be sedated with propofol (yup, Michael Jackson propofol). Once it’s over, we must wait for him to wake up and drink before they will pull out the IV and we are allowed to leave.
These tests and the frequency with which we are expected to undergo them frustrate a lot of people. We know there are risks to the peripheral vision. But we didn’t put our kids on this drug just for the heck of it. If someone is taking it, it’s for pretty dire reasons. The primary reasons I know of for its use are infantile spasms (why Connor is taking it) and frequent compex partial seizures that have not responded to other medications. Most people (based on my interactions on message boards) wouldn’t take their kids off this drug, even if they were told vision was being affected. Infantile spasms, left untreated, can cause major brain damage. What good is fantastic vision if your brain is fried? And the people taking it for other seizures have likely tried every cocktail in the book and are having so many seizures that their lives are being adversely affected to the extreme. So is being sedated every three months a bit much? You decide.
I’m not really freaked out by Connor being sedated, I guess because I’ve seen so much in his 10 months. I also know he’s being closely monitored. It’s not like Michael Jackson, who was abusing it with the help of a shady doctor. I just think the overregulation is an American agency assuming we are idiots. Should we keep an eye on vision? Yes. Every three months? Some people are on this drug for years. What hell. Especially if you are getting it through Accredo Pharmacy, specialty pharmacy of Medco. If so, you are probably already going through the monthly hell of securing your refill from this incompetent place.
We recently increased Connor’s dose of vigabatrin again in hopes of putting a dent in these eye rolling seizures. We are seeing some improvement. We actually had a day recently where we didn’t see any, which hadn’t happened in a while. We are also having more days in which we only see 1-2 clusters of eye rolling. But other days we see up to 4 or 5. Then again, for a while we were frequently seeing 4-6, so it’s definitely an improvement. His other seizure med is keppra. His neurologist is considering adding Onfi, and if it seems to help, we will wean him off the keppra.
Any TSC families reading this, I will be going to DC at the end of the month with volunteers from all over the country to meet with members of Congress regarding TSC research funding. I’m in need of personal stories and letters to your congress people. If you can help, e-mail me at email@example.com. I can give you more details.
Thanks to everyone who has been voting for me to the right by clicking on the Top Mommy Blogs button.
A favor to ask of everyone: please click on the Top Mommy Blogs link to the right. You don’t have to do anything once you get there, unless you want to browse other mommy blogs, but those clicks get me a higher ranking, which gets more readers to come to my blog and helps spread the word about TSC. Due to a glitch with HTML, it turns out none of my cllicks counted for the last month and I dropped off the ranking list, so please help me get back up!
Connor has now had two swimming lessons, about 30 minutes in length. He generally spends the first 26 minutes looking like, what is wrong with these freaks and why are we doing this? He spends the last four starting to warm up to the idea, and then we get out. But he doesn’t fuss or complain, not even when we dunk him. Just looks at me like I’m a world class idiot.
He’s also about to start music therapy. He responded incredibly at our initial meeting with the music therapist, so I signed him up for a weekly group class with other kids, and he will also do a weekly private session with the therapist. And the best part?! Besides the fact that he responded so well to her? She is charging less for a private session than our specialist co-pay would be if I wrangled a way to get it covered.
I”m very excited that I’ve booked my flight to DC to be part of the Walk on the Hill to get more government funding for TSC research. We’ll be making phone calls to set up the meetings with senators and reps shortly. Connor is excited to get rid of me for a couple of days so he and Daddy can get a keg. We’re also in the process of planning our next study visit to Boston at the end of March. While we’re there, we’re planning to have him seen in the Boston TSC clinic. It’s not that we’re not happy with the care he gets here in Atlanta, but we’re already being flown up by the study, so it only makes sense to have as many eyes on him as possible. Happily, we are covered by United Healthcare. I’m feeling good about UH today. Sure, we’ve had our minor aggravations, but piddly stuff. Thank you, United Healthcare, for not putting me through this, and thank you, social media, for allowing this. I’ve only ever managed to use social media to get refunds on crappy products or questionable charges, so this is quite impressive. It’s just a shame that this is starting to become the norm of how people can get anything done. You can’t be nice anymore, and that sucks. Aetna deserves the bad press. (If you don’t have time to click those links, long story short: Aetna was behaving HORRIBLY toward another TSC mom, and putting her daughter’s life at risk).
Speaking of companies that suck, Accredo Pharmacy is at the top of my s#&* list. I’ve complained about them before, here and here, in case you don’t recall. I didn’t throw their name out there then. But I’m done, and would love nothing more than for a Google search of their name to lead to my blog, especially since I discovered in an online TSC discussion group, several other people fighting with this inept facility. We encountered yet ANOTHER problem filling our prescription of vigabatrin, Connor’s most important medication, a seizure medication. Seizure medications are the kind of medications you don’t just miss a dose of. It can be serious, but this pharmacy, ACCREDO PHARMACY, shows time and time again that they have no understanding of this. Or they just don’t care because it’s a specialty drug and they know we can’t just run to CVS instead.
So this time THEY called ME to set up his refill shipment. It seemed to go smoothly. I thought things were finally flowing. Since we had over a couple weeks left, it was scheduled to come about 10 days later. They really love to ship at the last possible second, but I’m tired of arguing with them, and since everything seemed to have been cleared up with them, I thought, well this still gives a few days of safety net. Unbeknownst to me, this was not just a refill. It required a new authorization from the doctor. Now, that is THEIR responsibility to handle, but I wish I’d known because I would have seen it all coming and facilitated the refill as a precaution, as I’m well aware of the fact that this pharmacy is barely functioning. The day the meds are supposed to arrive I get a call saying they never shipped because they never got a response from the doctor. Funny how they have this problem, but when I need to get his other stuff at CVS, I never do.
And nobody ever called to tell me there was a problem. Something I could have solved by contacting our doctor, which I now did in a panic because I know how slowly these idiots move, and I know a new prescription has a turnaround time of roughly six years, even though it’s 2013 and a tweet can circle the globe in 4 seconds. The neuro nurse contacts them, provides the prescription, and then proceeds to have them remove all the incorrect contact info from their database because this whole time THEY HAVE BEEN CALLING THE WRONG PRACTICE! And guess what?! I have already corrected the phone number with them. MONTHS AGO. At this point I’ve involved an employee at the pharmaceutical company that I was put in contact with regarding previous issues I’ve had with Accredo, telling her I’m freaking out because I don’t know if it’s coming and every time I call, I get a new rep who has no clue what’s going on. So she’s doing something, and then she tells me she has someone else looking into it as well, and I continue to call and tell my story over and over to every clueless rep that answers. It’s clear that none of them undertand that it MUST SHIP TODAY. It’s Friday. It MUST come Saturday because we fly to Boston Sunday and our last dose is Monday morning. Nobody cares. By the way, when I called the next day, they STILL had the wrong number for our doctor in the database. Somehow, miraculously, it ships Friday afternoon to be delivered the next day. I don’t know if it was my pharmaceutical contact or not, but I imagine it wasn’t MY powers of persuasion. But I can’t handle these monthly Accredo meltdown days anymore. So I took to the TSC discussion group to warn people away from this place. Options are limited, but if they can, run, run away! Two other people shared their nightmare stories with me about Accredo, how one actually has run out of meds, and the other can’t get her first shipment scheduled to save her life. So I privately passed the contact info I had of the pharmaceutical person, and can only hope if enough people complain, this place will get cut off.
Connor’s neurologist plans to attempt to wean him off the vigabatrin when he turns one. If the spasms are gone, it’s done. If they aren’t, we have to stay on it. Oh please let them be gone, first of all for Connor, but also, just a little bit for my sanity, too.
Having your own Accredo issues? Please read my followup on Accredo here.
…because people are driving me insane. In order to maintain my positive thinking, I must vent somewhere, so even though I’m about to do some more complaining, I’m just emptying the irritation can so I don’t kill anyone who looks at me funny tomorrow.
So first, the good thing. Since I’m reporting to you live at Connor’s hospital bedside, I can tell you he’s had two episodes while hooked up to the EEG. Finally. They weren’t able to thwart us this time. He’s having more clusters a day, though the clusters tend to be shorter than before. Today I saw five for the first time since this eye rolling started, although the last one, may have only been a couple quick rolls.
Now here’s the part where I unload. What can I say? I’m tired. This EEG business has been going on since 6 am (and I don’t count the ordeal of getting this appointment-see previous posts). I had to wake up to call the transfer center to see if there was a room for him. There wasn’t. But that was okay because I knew it was a possibility we would be on standby at first waiting for one. At least they let us wait at home. So I have to call back at 8. Then I have to call back at 10. Then they say call back at 12. Okay. Deep breath. Sick kids get precedent and apparently there’s a massive influx of RSV cases. I’m not a monster. I do understand that. Another deep breath. Then YAY! They call ME back at 10:30 and say to be here by 12 because they will get him hooked up in the lab and hopefully a room will be ready by then. So we come to the hospital. Where we wait. And wait. And wait until two hours later he gets his electrodes. But there’s still no room, so the test isn’t going yet. So we wait. And nap. And wait. And we finally get a room at almost 5 pm. They almost broke me waiting for the electrodes. Oh yes, it was close. But I maintained.
That was nothing. Here was what really got my heart thumping. We went over all his meds earlier in the day and they had been submitted to the pharmacy. It was made very clear that all meds during his stay would come from the hospital pharmacy and must be administered by the nurse even though we do it at home every day. I will cut them a break on that given the litigious nature of this society. But, one of Connor’s meds is not easy to obtain. I was highly doubtful they’d even have it in stock considering I heard they recently ran out of a major antibiotic. But hey, they have all their information hours before his med time, right?
His med time in the evenings is at 8. At 8:25 I was about to call and see what was up because he was getting sleepy and cranky, when the nurse comes in. We administer Klonipin. Then Keppra. Then…taking vitals? “Are you giving him his vigabatrin?” I ask. “Oh the pharmacy wanted me to ask you about that. They wondered if you had it here because they don’t have any.”
For a moment I flashed back to the night a few years ago that I was at my favorite bar, Fado (before it moved and stopped being awesome), having too much to drink and breaking up with a guy via text (don’t judge me for the text. I don’t usually condone that. There’s more to the story). I was, shall I say, not in a good mood, and fueled by alcohol. Fado had recently hired a new valet, and he, how do I say this politely, sucked a fat one. Drunk girl was ready to leave, he had my keys, and was nowhere in sight. (Disclaimer: I am not the one who drove my car home). Thirty minutes later, after inquiring to his whereabouts with several bartenders, he wanders out of the kitchen where he was hanging out. I said, “There you are! I need my keys!” And he said…are you ready for this? He said, “Relax.”
I. Lost. My. Sh#%. Lost it big time. It is the only time in my life I have ever gone off on someone in the service industry. And as I did it, I could see my friends Lili and Angel desperately looking for an exit so they could disassociate from me. I went batsh#% crazy. But I don’t feel bad because I would be vindicated another evening when he blocked a bunch of cars in and failed to take the keys from the owners blocking them.
But Connor cannot duck away from me. My actions can affect him and his future treatment, whereas I knew our favorite bartender Kevin would never fail Angel and Lili, so I calmly replied, “Yes. I did wonder if you would have that drug.” What I did not scream was, “ARE YOU EFFING KIDDING ME? THE PHARMACY JUST FIGURED THIS OUT? WHAT IF I DIDN’T HAVE IT? IT’S ONLY HIS MOST IMPORTANT MEDICATION!”
And when I was asked to turn it over to have the pharmacy verify it, I stashed a bunch out of sight. Navigating the medical world.
You might be wondering if we got Connor’s 3-day EEG scheduled. The answer would be no. Because, you see, anytime you schedule stuff hospital related, it doesn’t work like a doctor’s office where you get transferred to a person who schedules you on the spot. No. You leave voicemails for people who are supposed to call you back and don’t. They never do. And I’m getting really, really sick of it. The neurologist sent the order in yesterday morning, and the hospital is supposed to call me. By the end of business that day, I was quite antsy so I tracked down the department number on their website and got connected to the appropriate person. I got her voicemail (story of my life) which stated she was out of the office that day, but also explicitly stated that all messages left that day would be returned the next. Well, it’s 6 p.m. the “next” day and nothing. So I will be calling again first thing in the morning, at which time I expect to address a voicemail again, then spend the rest of the day seething. It’s no little thing trying to squeeze in three days in the hospital at the holidays! I’m stressing over two things. First, what if they don’t even have any openings for a ludicrous amount of time, like until next year? And then, what if the opening they do have screws up our plans this month? Not to mention it always takes forever to get the results, so the sooner the test is done, the sooner we can start the next phase of waiting. Waiting. Waiting. Waiting.
To top it off, I realized today that I have hung up on countless phone calls from the pharmacy that provides Connor’s Sabril. I’ve complained here before about my issues with them, so you might wonder why I would be hanging up on them repeatedly. Well, dear reader, this is why. When I call them I use an 800 number. When they call me it’s a 901 area code, Memphis number. But I only recently made this connection because every time I have answered the phone, nobody was there. It begins to ring on their end to connect me to someone, and then hold music begins to play. There is NO identifying information, even a recording, to inform you who is calling. Surprise! Like any normal person, I assumed this was some sort of telemarketing robo call. So I always hung up. Until I didn’t answer. Today I stayed on and was on hold for several minutes before someone came on identifying who it was. Great business model. Really.
I suppose I should bring something lighter in to close. I’ve figured out Connor’s favorite food finally. Of all things, it’s a combination of prunes and apples. PRUNES and apples. And you know what. It actually smells and tastes pretty good. Who knew? That might become his only solid if he keeps swinging his head back and forth to avoid the spoon like he does with some of the other pantry items.
Living in Atlanta, loving travel and watching my son kick tuberous sclerosis complex's butt.