By guest blogger Paula Krischel (Dwight, Illinois)
Paula with her husband and three sons, Mason, Joshua and Adin.
My story started when I noticed my infant son, who was 11 months old, puking and seizing. We went to our local hospital, and his pediatrician knew it was more than he could help with, so he sent us to Chicago. That was the first time we met Dr. Huttenlocher and started our long journey with TSC. Never in my wildest dreams could I imagine that I had this disorder for 26 years, and was completely unaware.
My world was falling apart. I became depressed, and my son was having uncontrollable status epileptic seizures. I not only had to learn all I could about this disease, and the fact we had to live day by day to see how it would affect our boy, I had to learn to accept that I do have this disease and cope with the guilt I felt about giving him this terrible thing! Mason, who is now 17, ended up having global delays; he is severely affected by this disorder, severely autistic, and will never have the ability to live an independent life. We started with therapy at a young age, but did not see much progress for many years.
We were feeling compelled to have another child, feeling Mason needed a sibling to help him learn. We prayed a lot and had Joshua. Joshua is now 14, board scholar, and wants to one day be a geneticist and work in gene therapy. As of now, he shows no signs of having tuberous sclerosis, and he wants to one day find the cure for it. We have advised him to get genetic testing done when he decides to have a family.
When my Joshua was 10 months old, I found out I was pregnant again. Eight months later I had Adin. I was not as comfortable about this pregnancy because we were planning on stopping at two. We found out through ultrasound, at seven months along in the pregnancy, that he too would have that terrible disease called tuberous sclerosis. We did a lot of praying, and even though he is autistic and has global delays, he is a ray of sunshine who can brighten anyone’s day. He is considered mild/moderately affected by this disease. He is able to communicate with us, but his older brother is very limited in his speech. Even though he started out with infantile spasms at three months, we have been able to keep his seizures under control fairly well for 13 years. He did have a breakthrough grand mal once, when going through a growth spurt. He has been under control again since 2009.
We have spent countless minutes with doctors, tests, speech therapy, occupational therapy, music therapy, physical therapy, behavioral planning, making safety plans for at school and home, and the list goes on.
Now our latest scare is me. Recently I found out my tuberous sclerosis is wreaking havoc in both of my kidneys. I get to start the new medicine Afinitor to see if we can save my cyst-filled kidneys from getting any worse. Both of my boys are on it as well for SEGA brain tumors. This is the first time I have been seriously concerned about my own health. I am the main caregiver of my boys because my husband is a very hard-working plumber, who works diligently so we can pay for all the expenses this disorder accrues. There never seems to be a very long break of good health in our family, but because of this disorder, we are stronger, more loving, and cherish all milestones that we conquer! For that I am thankful to TSC. Even though our life is crazy, and the stress seems to pile up constantly, I would not change my life for one second…and continue to look forward to the future!!!
My first child of four was born in 1971 . She lived until 2003, 32 short years. She was a joy, a beautiful baby , and I was a young 23-year-old teacher.When she was about eight months, she started crying for no reason. Then she seemed to stop smiling and rolling over, and later she started jerking her head down in a series of movements. Frantic trips to doctors’ offices found nothing wrong. I was an “overly concerned mom,” and ” it was nothing” I was told. The few funny white spots I noticed at three weeks, were also “nothing,” and the fact that she didn’t lift her chest or head up from lying on her stomach was “weak shoulder muscles.” Every doctor I saw dismissed my concerns. I wanted to believe it was nothing, but in my gut I knew something was wrong! Moms always do!
Finally, one day, she had eight separate instances of jerking her head and body in a series. I was alone with her and decided I was not going to take no for an answer any more. I drove to the emergency room and, probably hysterically, told the doctor there that I wasn’t leaving until someone told me what was wrong with my baby! Weirdly enough, the emergency room doctor was moonlighting from local AFB and had a patient, 12 years old, with TSC. He recognized the white spots and my description of the infantile spasms she was having.
He bluntly told me she had TSC and would be handicapped… Would not walk or talk and not live if her seizures weren’t controlled. I cried all the way home.
My world stopped! Life as I knew it changed forever. He turned out to be right about one thing. It was TSC! And after finally seeing a pediatric neurologist at Loma Linda Hospital who confirmed it, (MRI was not yet developed until two years later), and hospitalizing her for invasive brain tests, we had to accept her diagnosis and the gloomy prognosis they gave us.
I was told so many things that proved to be wrong. How rare it was, life expectancy, IQ expectancy, etc. And that there was no definitive genetic or diagnostic test available. And that really there was not one damn answer to any question. Now I know to question, to not believe predictions, to do my research, to develop a tough skin, and to be assertive. Doctors aren’t God. But she taught me all that in time. I took her home, loved her and wondered how I would ever survive her predicted, imminent death, as we struggled to control her seizures, first with meds, and then with ATCH shots. Welcome to the world of medication, seizures, hospitalizations, fears, tears, more tears and special education. That was my new reality. I started to research tuberous sclerosis in many libraries, poured over medical journals, medical books, books on retardation, and epilepsy only to discover what was written about TS was minimal (no internet). The disease was considered very rare, and no real research or awareness had occurred in over 100 years since it was named Bourneville’s disease. No wonder doctors didn’t know much about it. Not much was known period!
I was starting to get angry now, and when I read in the American Association of Mental Deficiency book that the life expectancy was 25 years, I knew then that no one really knew diddly squat! My pediatric neurologist was advocating institutionalization and no one had real information. I became empowered with my anger about no answers and no knowledge. I was a teacher, a reader, and yet I couldn’t find answers. Maddening! I refused to believe there was no hope! By now, she was almost two and I was expecting my second child, Tanya, after a geneticist told us Stacia was a random mutation. My older sister told me about preschool programs for special needs kids and about a magazine called Exceptional Parent. I wrote to it, asking for other parents with TS children to contact me. I thought if there were others out there, we could unite and make our voices heard. We could demand research, a genetic test, and treatments. Support could happen! I dreamed it all!
In two weeks I got 15 letters from all over the USA. Three from California. And one from a mom of a 29 -year-old with TS ,who thought she was the only case in the world. Clearly no one had ever tried to find out how many cases there were (again, no internet yet). To make a long story shorter, I found Adrianne Cohen, Verna and Bill Morris, and Debbie Castruita in California.
And ….
We started to meet and plan, write letters, call moms, have meetings and contact doctors. We created a newsletter (run off on a school mimeo machine) and a medical research survey. Adrianne helped us get our first grant, a lawyer friend helped us incorporate as a non-profit and NTSA was born.We knew if we were determined enough we could make a difference. We talked to regional centers, hospitals, child neurologist associations, and put articles in magazines and newspapers. We also hoped for a celebrity to endorse us. We lived and worked on NTSA for years. Then slowly let go and let others take it over when it became a successful reality. Now the Tuberous Sclerosis Alliance!
It spread and now it is international. I no longer have to write letters of hope to other moms from my kitchen.
We have a staff, TSC clinics, a medical advisory board, genetics test, research, a magazine, a bonafide celebrity (Julianne Moore), fundraising, and chapters all over the world. Tuberous sclerosis is no longer an unheard of disease and there is hope for no mother to go through what I did. It is miraculous really. But we still have the disease TSC…. and we still have heartache and families looking for help and hope. Now we have Facebook, the internet, this blog, and a phone call or email to the TS Alliance for immediate help and hope. My dream has come true.
Along the way I had four children, got a divorce, remarried, became a special education teacher and struggled every day to raise my TSC child, Stacia Diaz, and battle her ever growing list of symptoms. She turned out to be severely involved, mentally about three years old, brain tumors, kidney tumors, sleep , appetite problems, autism, and aggressive behaviors. She was verbal at eight and was able to say I love you (and cuss:). She was funny, happy, and taught me and my other children so much. But she also suffered, and we suffered…
And when I look back on the day she was diagnosed and remember the stages of grief I went through to come to acceptance (to learn to love her for who she was, not who I hoped
Stacia on her last birthday.
she’d be), I remember how it was a long and difficult journey. The grief never really ends. Yet today parents have support!
The end, for her, was the hardest. We watched her die in a hospice, after her second remaining and only kidney was so full of tumors that nothing could be done. She could not tolerate dialysis and a transplant. The heartache never really goes away, and I miss her every day, but I’m glad she’s not suffering anymore. I know today the newer kidney drugs might have saved her. But knowing the TS Alliance is making strides in treating TSC kids gives her life…and her death, meaning. Maybe I was her mom for a reason? No parent should bury a child, but even her death made me a better person. She and TSC taught me many life lessons.
I now have Cll leukemia and am doing very well with my own medical battle. But I know Stacia’s courage, her smile through all of her battles with TSC, and seeing her still smiling when she died gives me courage and allows for no self pity. I just want each mom and dad and individual with TSC to know that, though it isn’t fair to have this disease, you CAN, as one person, make a difference in the fight to cure this disease!!!! We moms who started this organization believed that!
It is a battle we are winning. Things are better. There is hope. There is help. You aren’t alone! And every case of TSC is unique.
I’m so grateful for the work alliance members and staff do daily. I feel so fortunate to see a dream become reality. I hope my story helps someone today who reads it. And I hope Stacia is smiling down on all of us!
I am an incredible multi-tasker. I am currently writing this blog, on hold with United Healthcare, and having a mental breakdown. Congratulations! You f*&^%$# finally made me cry. I’ve been pissed. But you hadn’t made me cry yet. That took a conjoined effort of United Healthcare, Optum RX, and Accredo Pharmacy.
It started when we got a letter from United Healthcare that they were switching from Medco Pharmacies (which houses Accredo where we get Connor’s Sabril) to Optum RX pharmacies. All mail order prescriptions should automatically switch over. Of course this raised my cautious red flags. So as soon as the change happened April 1 I called to check the status. After talking to a couple different people, it was established that Optum doesn’t carry Sabril (vigabatrin). I was referred back to Accredo. “So everything stays the same?” I asked. “Yes.” I was told. So today I called Accredo to refill the prescription. First time it picks up to silence. So I hang up and call again. Someone answers this time. They would not fill it as my prescription had been transferred over Optum. “Oooookay. So I call them to fix this?” “Yes.”
I call, listen to more piped music, and give all my personal info twice more to Optum to be told that it’s on Accredo to call and ask that the prescription be sent back, and that they should have offered to do so. Call Accredo again. Again, their line picks up to silence, and I have to hang up and call again. More holding. I tell them that they have to call Optum and get the prescription back. They tell me they can’t because I have no active insurance with them after March 31. They still can’t fill it. “So I call united Healthcare and tell them to do what? What exactly do they need?” I’m told to call UH and ask them to open an active account with Medco so Accredo can fill the prescription.
I call United Healthcare, more holding, more giving all my info, lots more holding, trying to explain, getting transferred, and I end up back on the phone with someone at OptumRX again. NOT what I asked for. He again starts the process of refilling Connor’s Sabril. “But two people told me you don’t have it. You’re saying you can fill it now?”
“I have it right here. I’ll take care of this for you.” I wanted to hope for a second, but deep down I knew where this was going again. “Oh, we have the prescription, but we don’t actually have the med.” Yes. Exactly what I’ve been saying. YOU have the prescription, but can’t fill it because you don’t have the med. Accredo has the med, but doesn’t have the prescription or authorization.
Finally, I do what I should have done all along and call SHARE, who works with the manufacturer to deal with prescriptions. They are now working on getting United Healthcare to give an authorization to one of their participating pharmacies so we can refill his prescription. Obviously who I should have called first, but for the love of God, people aren’t psychic. Those of us outside the medical world don’t understand the inner workings. I don’t fully understand the Lundbeck (manufacturer)/Share/Insurance connection. i just know my kid needs his stupid medication. And nobody offered me any instruction on how to handle this. All I got was a letter from my insurance making it sound like a simple switchover.
I guess I am not meant to understand this world of medical mysteries. I suppose I will never know the following:
1. Why a mail order medication can be so difficult to get your hands on, seemingly more difficult and a kazillion times more expensive now than back when people had to get it from Canada because it wasn’t approved here.
2. How a cranial remolding helmet can appear to be covered, I can be charged our uncovered 20 percent, only for United Healthcare to later deny the claim, forcing time to be wasted on an appeal.
3. Why CHOA employees never return phone calls. (Hey Wanda in medical records, it’s been over a month, but fortunately it turned out I don’t need that paperwork after all, so I guess just don’t worry about it.)
4. Why Obamacare doesn’t attack the heart of the country’s issue, which is that hospitals are charging increasingly outrageous prices with no rhyme or reason, operating off of Chargemasters that aren’t standardized or remotely in line with the actual cost of care, and are allowing this medical crisis a major role in the country’s debt.
Et cetera….et cetera…et cetera…
And to top it off, seizure activity is definitely back. I suspected I was maybe seeing very occasional absence seizures, but then yesterday we saw this. So thank you, hospitals and insurance. All the families dealing with health issues can count on you, that no matter how strong they are, how positively they approach their problems, you will always be there to try to break us.
And I guess now, 2.5 hours after getting up, after writing this blog in a mere fraction of the time I spent on the phone this morning, I will finally have my breakfast.
Does anyone know how long the ear-shattering shrieking phase lasts? Asking for a friend.
Connor is continuing to do well. Since mastering sitting at the beginning of January he has increased his range of reach around him, and pulls himself back to sitting from positions from which he would have toppled right over not so long ago. His flexibility is frankly disturbing. But when one wants toes, one will have them.
If assisted into a crawling position he can maintain it and lift an arm to reach for a toy. He can also hold himself in a standing position. The key is to now help him achieve these positions independently. Oh, and move while in them. My lower back longs for the day.
The good news is that we still haven’t seen any eye-rolling seizures since February 10. The bad news is that I suspect he may be having occasional absence seizures upon waking. I’ve counted maybe 6 or 7 instances in which shortly after waking up, he purses his lips tightly and stares off to the side. They aren’t very long–maybe 20 seconds or so. They don’t seem to have any lingering effect on him, but it’s still frustrating. We get these little windows of no seizures, and then something changes. We see the neurologist again on the 24th so we’ll discuss it then. Of course, this is much better than what was going on before.
As I mentioned, his current mode of communication is high-pitched shrieking. It’s kind of funny until he keeps it up for half an hour. Or we’re in a restaurant. He’s otherwise so well behaved in public, but his love of his own voice shattered some mimosa glasses at brunch the other day. Hear it for yourself. But don’t click that at work. People will think you are seriously weird. And then watch this just because it’s funny to see how much he loves seeing himself.
I’m having trouble gathering my sarcastic thoughts since I’ve been watching CNN coverage of the bombing at the Boston Marathon all day, so here are some happy pictures of our trip to Tanglewood Farms, an awesome petting zoo of miniature animals in Canton, Georgia.
The only downfall of the weekend was that Connor exhibited some signs of allergies. After we had been at the farm for a bit, he began to rub his face into us again, and his eyes seemed itchy. This also happened the day before at a friends birthday party. Pollen? Like Daddy? Orrrr….
was it the pony at the party? Pollen or farm animals? Pollen counts were at record highs (or so I’m told. Pollen only affects me as far as irritating me by getting all over my car and porch rocking chairs). Time will tell…
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My one-year-old son Connor and I were stalked the other day. It happened at Target as I pushed his umbrella stroller through the women’s clothing section. Our stalker darted from clothing rack to clothing rack, unaware that I was watching out of the corner of my eye. I’d estimate that she was about five, and I’m pretty sure the reason she was following us was because she wanted to know what the thing was on Connor’s head. I would have just told her, simply said, “Oh, it’s just a cranial remolding helmet for the plagiocephaly that has occurred in the posterior region of his skull. No biggie.” Okay, that’s not really the way I would say it to a five-year-old, but I felt like I would ruin her fun by acknowledging her presence.
Yes, Connor has a fancy, new, almost $3,000 hat. And that’s minus any bling. You’d think three grand would get you some rhinestones or something. Thus far it has not impeded his favorite activities, which include throwing everything on the floor and turning his bottle upside down and squeezing the nipple to fill his belly button with milk. Or this:
Connor’s physical therapist had brought up the possibility of a helmet many, many months ago when the flattening of his skull was much more extreme. We were able to do a great deal of correction simply by positioning his head, but he was still left with some residual flatness as he neared the age of one, so his neurologist suggested moving forward. I wasn’t thrilled with the idea of a helmet, but accepted it. I made the appointment and took Connor for the fitting. There were pictures and sample helmets around the office. I actually found myself getting a little excited. Having to get the helmet wasn’t ideal, but I couldn’t believe how adorable some of them were. There were tons of designs to choose from, and I narrowed my top two down to one with airplanes and one with soccer balls. Then the orthotist returned and obliterated my adorable vision of Connor with airplanes circling his head. He felt very strongly that the clear plastic helmets were a better choice than the more popular styrofoam lined version that come covered in adorableness. Plastic ones were less likely to chafe the skin, they don’t absorb sweat so they don’t stink, they are easier to clean and you can see any skin irritation that may be occurring. They can also be vented by drilling holes in them. I nodded along in agreement and said things like, “Can’t argue with that.” But in my head I was cursing the stupid practical helmet, that for the same price, comes minus flaming soccer balls. How do you say, “I want the cute one,” after that? But stinky styrofoam? I could wash dishes with the sweat that pours from Connor’s head, so clear plastic it was. That wasn’t the only moment my stomach would drop during the appointment. To be honest, I went in having done no research. I’ve spent the last year reading so much about his genetic condition of tuberous sclerosis complex that I just wasn’t that worried about a helmet. I’d find out the details when I needed to know them. So I was not expecting to hear that he had to wear it 23 hours a day. I also wasn’t excited to hear that while treatment is usually three to six months, since Connor didn’t get his until he was a year old, his treatment would likely be closer to six months than three.
Those were my only negative moments though. Do I love the helmet? Not so much. I hate that it makes his head sweat so much that the effects of a bath are destroyed ten minutes after I put it back on his head. I hate that my adorable child has to wear it 23 hours a day. Oh, he’s still adorable in it mind you, but no parent wants anything to prevent onlookers from having the full experience of perfection that is their child.
I think if the last year had been “normal,” this helmet would really bother me. They’ve become much more common since the “Back to Sleep” campaign to combat SIDS, since putting babies on their backs has caused a huge increase in plagiocephaly (which is far preferable to SIDS, obviously). Nonetheless, I think I’d take it off him every time he left the house or someone came over. But the last year has not been normal. Connor was born with tuberous sclerosis complex, which causes benign tumors to grow in the organs. Currently, only his brain is affected, but we’ve dealt with five weeks in the NICU, seizures, brain surgery, daily administration of several medications, multiple EEGs, MRIs, infantile spasms, gross motor delay and speech delay. He has physical therapy, speech therapy and music therapy. I could care less about a stupid helmet.
I want a life where I care about the helmet. I also want a life where the opthamologist assures me that the occasional crossing of his one eye is not a big deal, but if it gets worse, it can be corrected with glasses, and then I freak out about how I don’t want him to have glasses. But I don’t care about the glasses either. I don’t want to be the mom that impresses the doctor by taking glasses (and helmets) in stride because after everything else, they just don’t matter. “A lot of parents ask if their kids can just have eye surgery instead,” the assistant told me. “They’d rather their kid have surgery than have to wear glasses. I guess TSC really gives you perspective.”
Perspective. I’m drowning in it, whether I like it or not. And it only took me 31 years to find it.
“Bert + Ernie for Marriage Equality” / Toy Story / SML.20130327.IdealHusbands.Remix (Photo credit: See-ming Lee 李思明 SML)
Connor does not own a stitch of purple and Chris wasn’t on board with me dying his hair purple to match mine, so I recruited friends and family to wear purple on his behalf yesterday for Purple Day and epilepsy awareness. Connor has epilepsy due to his brain tubers from TSC. That being said, we have not seen any seizure activity since Feb. 10.We didn’t do too shabby considering we were in stiff competition with the sea of red washing over Facebook due to the Supreme Court hearings on gay marriage. It was bad timing for me as red is definitely my color and I have a ton of it. But since that is a two-day affair, today I got to discover that my still purple hair goes great with a red top. Politics, schmolitics. I’m in it for the fashion. And who knows. Maybe someday, people will figure out that you can’t claim to have Jesus in your heart, and in the same breath, call someone a fag and condemn them to hell.
My mom rocking the layered purple look.Arianna strikes a pose in a very fashionable ensemble.Giovana took her purple to the court house (where she’s an interpreter, not a criminal).Mieka represented in Canada.Sara claimed she was having a bad face day, but she’s never before needed an excuse to send me a picture of her chest.Asma doesn’t believe in wearing purple pantsuits to court, but eye shadow is another story (lawyer this time, still not a criminal-officially).Sondra and Jareyl rocked some mother/son purple.Rachel doesn’t do purple clothes, but she does purple flowers.Claudia, Isabella and Arianna made it a family affair.Juliette was stopping traffic in her purple…oh my god, my captions are so stupid and yearbooky.Yuri only allowed her art students to use purple crayons all day. Right?Thomas knows the importance of accessorizing.Sleepy is modeling his human sister’s former onesie.Lili represented in Barcelona, Spain.Danita took her purple to the bank. No really. That’s where she works.Ann went to sleep dreaming of purple sheep.
Ten days. It has been ten days since we last recorded one of Connor’s eye rolling seizures with our SeizureTracker app. Yes, there’s an app for that. Just like that, after five months of this weird seizure activity and a 3-day in-patient EEG–nothing. It is awesome, and we just try to enjoy it without projecting ahead because there are no promises in TSC land. He’s so much more alert and engaged in the meantime. Even more giggly, more aware of his surroundings, and increasingly open to people he doesn’t know as well. He had his best swim class ever last week. I’ve been swearing to his instructor that my kid really does smile–I have pictures to prove it. But week after week, though he didn’t fuss or cry, he openly regarded us as dumbasses for requiring him to take an extended bath in an oversized tub to off key singing. But finally, he not just cracked a smile, but laughed and did all his own kicking without me prompting him to move his legs.
The class he has been enjoying immensely is music. He is very interested in the other babies, which is great because I want him to be inspired to crawl and move like them. First he seemed to have a man crush on Ben, but this morning a new love crawled into his life and knocked his socks off. Well, actually she crawled over and just yanked one of them off, but he was so instantly smitten by Priyanka’s bold gesture, that he grabbed both her shoulders and went in for the forehead kiss…or lick. He has made a wise choice. Mom is an ER doc. I feel good about having a doctor in the family. And if Priyanka ever seems distracted by any of the other boys, I’ve observed that I can win her back for him with my car keys.
Connor can now stand when bracing himself against the couch, which is nice. He is also firmly into the “it’s fun to throw everything on the floor” phase, which is less nice. He started speech therapy last week, and I sense some of his grumbling will eventually form into four-letter words. His speech therapist brought him some awesome bubbles that are unlike your standard Target bubbles. These don’t pop as easily, allowing him to catch them, stack them, and for me to scrape them off furniture for days afterward. But look how much fun he’s having.
Meanwhile, in adult world, I’ve been trying to motivate myself to go out more. It’s so easy to be lazy and do nothing when it’s cold AND you have a kid. I actually had two social engagements in one weekend. I felt like I was 27 again! Chris and I attended a paint and wine tasting function at a local gallery with our friends Giovana and Damien, taught by our friend Yuri Strom (insert reference to Yuri so that when she’s famous I can prove I know her). I love the way each of our paintings shows our personality. My “I need to please by doing it right, but I’m trying to emulate a carefree lifestyle” painting, Chris’s “OCD everything must be symmetrical” painting, Damien’s “I’m just here for the wine, so my sun’s gonna set in the east if I feel like it” painting, and Gio’s “I’ll show you, happy Tuscan countryside, exactly what pain is” painting.
The next “morning” I went to Barcelona Wine Bar for brunch…at noon. We live in the Bible-thumping state of Georgia, and only just got Sunday alcohol sales. Of course the government still feels the need to regulate the hours that is permissible, so they can’t serve until 12:30, thereby destroying the essence (mimosas) of the brunch. So, I guess it was really breakfast for lunch. Oh well. I showed the gov’ment by ordering an entire bottle of wine.
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.
Modeling high hospital fashion.
Heat packs to bring out the veins.Headed home with giant pupils.
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 pin.the.map@gmail.com. I can give you more details.
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We flew to Boston so Connor could take part in a TSC study through Boston Children’s Hospital and Harvard. It helps us by potentially identifying areas in which he might be showing delays so we can intervene, and in exchange we are helping the study identify early markers of how TSC might progress. Since there is such a wide variation in how TSC presents, from people leading competely normal lives to round the clock care and everything in between, the earlier doctors can identify who might go down certain paths, the better.
I was worried about flying with a baby. Ever since 9/11, I have had a decidedly contentious relationship with TSA. Apparently I resemble p. 33 of The Big Book of Terrorists. It’s gotten better since right after 9/11 when I was one of the randomly chosen few for the arbitrary secondary search at the gate (every. single. time), I guess because I so perfectly fulfilled the role of “white girl” in a politically correct collection of humans to pat down. So I’d be chilling with Asian Dad, Black Grandmother, Hispanic Mom, and various other people wearing t-shirts that said “Just Do It: Blow up the Plane.” TSA relaxed with me after a few years and mostly only chose to arbitrarily search my bag even though I had cleared security, finally prompting me to remove my bomb-shaped luggage tag and collection of Middle East flag patches meticulously sewn all over.
Who knew a baby would make it easier?! First, we got to bypass the security line in Atlanta. When we returned our Hertz rental car at Boston Logan, they drove us to the terminal instead of making us catch the bus. Then I got to bypass the full body scanner since I was holding him (I’ve successfully avoided these ever since implementation! Score! knock on wood). We got to board early. Rather than making us choose peanuts, pretzels, or cookies, the flight attendant gave us two of everything. And finally, getting to enjoy that intense look of fear in passengers’ eyes when they see you. Pure awesomeness.
It was Connor’s first flight, and generally, he’s not a fussy baby, so we weren’t too worried. Naturally, as soon as we sat down on the plane, he whined and shrieked, until we got him to sleep. From there it was smooth sailing. On the flight back, we had a standard rough Delta landing which he loved. As we bounced and jerked, he laughed and laughed.
We arrived Sunday night (oh no, I’m sorry. It was only 4:30, it just happened to look like night already) and went to pick up our rental car from Hertz. We were upgraded to a Hyundai Elantra. Don’t get me wrong, it’s a cute sporty little car, but the key word is still little. Were we getting a moped before? No complaints though. We had a great experience with them (see above about how they drive people with kids to the terminal). I’d detail our adventures of trying to navigate the big dig and poorly lit Boston roads with tiny street signs to the Holiday Inn, but I try to keep the four letter words to a minimum in the blog.
We finally found it though, only to discover they didn’t have our reservation. Apparently, the hotel made the reservation for the day they received the request from the study, not the dates we would be there. So we were a couple months late for our reservation. Fortunately they had plenty of rooms, with windows into the interior lobby, not to the outside. Deep breath. I will not freak out that I’m going to suffocate and die in here. The study ladies were unthrilled to hear that this occurred (seemingly not the first time) and we are being reimbursed for this as well. So we enjoyed a “not bad” hotel dinner, followed by some extremely questionable eggs benedict in the morning, and to the study we went.
What are these tiny pillows on a king bed?!!
Unfortunately Connor had one of his eye rolling episodes during breakfast which meant he was gonna be a little bit on the tired side. They started with the EEG net on his head, a very expensive and newer version that delightfully didn’t require the glue of the standard EEG. The computer tracked his eyes while a screen flashed pictures of shapes, me and a random woman.
Then he sat on my lap at a table and they watched how he interacted with certain toys. He was given particular tasks to complete with objects, but at that point he had more eye rolls and it was sleep time. We had to cut the cognitive test short and do it based on parent report. The final part was an examination by the neurologist, who noted his slightly low tone, but otherwise thought he looked good. She was impressed that despite his surgery on the right frontal lobe, he showed no weakness on either side, which can occur.
All this took place in just under 2.5 hours and we had several hours to fill before catching our flight home. We decided to tour the campuses of our backup schools, Harvard and MIT. As we both got into our first choices, Chris into Marquette, and myself into the University of Georgia, fortunately neither of us were forced to go to these second rate institutions. Harvard does have a beautiful campus, although that does little to negate their horrendous academic reputation.
This is a Harvard snowman. I rest my case.
We received the assessment results within a couple days. Areas of concern: visual reception (have to look into this more, I think it means he wasn’t paying much attention to the screen with flashing pics-we’re hoping a factor in this was that he was quite tired and not really wanting to keep his head up to look at the screen), expressive language (already looking into speech therapy, since he can certainly be noisy, but isn’t yet making consonant sounds), and gross motor (already getting PT). Not really major surprises. Receptive language was a slighter delay, meaning while he seems to recognize some words, he doesn’t consistently respond to them. I definitely notice that when he’s in a good mood, he’s pretty responsive. If he’s tired or disinterested, he’s pretty good at ignoring me. Interestingly, his fine motor skills were right on target, something I already thought to be the case.
His 12 month follow up looks like it will be the last week of March. We’re extending this trip into a little family vacay. I look forward to building my positive relationship further with TSA. If they stop feeling me up permanently, maybe we can even be friends…
I had a blog once that was painfully blunt. It was my outlet for five years when I battled depression and anxiety. That battle actually went on for more like 10 years. Some friends stuck it out. Others found me too aggravating, and I was aggravating. But they can still go to hell. I’m good now and have been for several years. I was delightfully sarcastic and dark in that blog. Or at least I think I was, in my own little world. I didn’t tell family I had it. It’s long gone since the day a disgruntled employee at Journalspace intentionally sabotaged the server, destroying an entire online community. The one and only time I backed it up was two months prior to that fateful day. I wanted to print it once, but it was over 500 pages. Sometimes it’s hard for me to be completely open in this blog because I use it as a forum to raise awareness for Connor. This means family and family friends read it (although as I discovered tonight, my brother hasn’t been, so he can suck it. I pushed him on a cactus once as children and I’m not afraid to do it again bwa haha). As I get more comfortable, I might open up more on a personal level.
Which brings me to the fascinating world of Facebook. Feel free to unfriend me if my unending lobbying about TSC annoys you. Of course, it’s not like those people would be reading this. I have been blown away by the thoughtful, kind words from people that I haven’t seen in years, didn’t know well even then, and sometimes never even met. Especially when some of the people I spent significant amounts of time with at some point in my life have never cared to say a word to me about Connor.
2. The TSC community needs to go balls to the wall.
I’m not in the greatest mood because the last couple of days I’ve been lobbying like crazy to get votes on behalf of the Australian Tuberous Sclerosis Society. They started out well in the lead. Earlier today another group had a 30 vote lead. Now it’s over 100. I’m about sick of the lack of awareness and touting of various opportunities to get funding for TSC. Once again we are faced with a vote where we aren’t even at 2,000 flipping votes. More like 1,600. Just like the Chase Bank competition a few months ago. Yet I’m part of two online communities, one with over 2,000 TSC people and another with over 5,000. Something isn’t clicking here. I’m angry.
3. Life isn’t fair.
Yesterday, one of the children I know with TSC was rushed to the hospital in the midst of a status seizure. If you don’t know, that is a seizure that won’t stop without medical intervention. From what I hear, it can involve being pumped with so much medication to stop it that they have to be in a hospital because they would otherwise die from an overdose. Connor has never had one, but once again, on the list of increased possibilities with TSC, that is one of them. When I was teaching,I would, from time to time, have to be trained on a medication that is inserted into the rectum to stop a seizure. I never had a student have a seizure, but I now know that drug is Diastat and that is what it is for. I used to cringe at the idea, never knowing epilepsy would be a factor in my life. Wouldn’t phase me now, though we don’t have any and I’ve never had to use it. Funny thing is that I think that the last 9 months of my life would make me a most fantastic and understanding teacher. Too bad by the time I left, teaching was 10 percent of the job. Garbage paperwork and filibuster meetings were the other 90.
But I feel bitter because this child has been through enough. He’s never been seizure free for a moment. He’s not even four and already lost a kidney. He’s been through enough. Hey, God. Feel free to cut him a break. Feel free to cut a whole lot of babies a break.
Forget TSC. Do you know how many kids out there have a health problem? You don’t. Not unless yours does. Until then, you don’t know. Forget TSC. What about all the other stuff? Once your eyes are open to one, it’s everywhere. Can you believe there is a little girl out there that was not only born with TSC, but is now battling an unrelated childhood cancer? Really? One rare disease wasn’t enough? Did you know cardiac birth defects are as common as 1 in 100? Can you believe that the physical therapist assigned to Connor has a 3-year-old granddaughter battling cancer as we speak?
People are praying everywhere. But I’ve learned something. Prayer makes the person praying feel better. Don’t get me wrong. I love that people are praying for Connor. He’s had prayers all over the States, Colombia, India and more. Don’t stop. But it gives me this mixed feeling of bitterness and relief. Sure, I want to believe it will make a difference. But I don’t really believe it does. Some prayers get answered. Some don’t. I don’t know that I prefer to believe God is answering some and not others. I’d actually rather believe things are just happening down here. Otherwise, why do some deserve to get answers and others don’t? I’m sick of stupid prayers, too. Do I have the right to call other people’s prayers stupid? Probably not, but if children are sick and/or dying and God is helping you win a stupid ass football game or experience great weather for your fishing trip, I’m gonna be pissed. Is God the reason your wedding went beautifully? No, you got lucky. And if you think God is the reason your centerpieces didn’t wilt and drunk Uncle Jack didn’t embarrass you, you’re a moron. Good luck with the rest of your life thinking God is going to fix all your piddly marriage problems.
I don’t know how people give it all up to God and just believe it is all for a reason. I want there to be something after we die. That’s the only reason I don’t blow it off all together. But while we’re living…what is there? I don’t know.
Mixed Up Mommy 