By guest blogger Paula Krischel (Dwight, Illinois)
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.
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
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!
When Connor was first diagnosed with TSC, it felt like my life very quickly split into two parts: BTSC and ATSC. Before TSC and After TSC. Although the extreme emotions surrounding that feeling have faded, I still find that when I think about stuff I did in the past, I calculate how long until he would be born when I did it. Moving into the dorm with Gio-13.5 years until Connor will be born. Teaching English in Korea-less than nine years. Taking language classes in Spain-eight years. Starting to teach elementary school-less than seven. Closing down our favorite bar every weekend with Lili-less than five. Meeting Chris-three and a half. Traveling to Italy-11 months. It feels so foreign to think I was just walking around at one time, thinking something like this could never happen to me or someone I knew.
Now I wonder who the people are walking around, like I did, never even hearing of this disease, not knowing that it will enter their lives someday. There are other versions of me that are getting ready to take final exams at college, lying on a beach, starting a new job, looking for their first apartment, at the mall, house hunting, planning a big summer backyard bash, training for a 5k, and just going about their lives, with no idea that one day a doctor will say the words tuberous sclerosis complex to them.
I have a number of guest bloggers that will be sharing their personal TSC stories over the next month. Some have family members with TSC. Some have TSC themselves. Some have both situations. I hope sharing their unique stories will help spread awareness and help us find a cure someday.
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.
April 15 is approaching and that is the deadline for your representative to sign the Dear Colleague letter to fund the Tuberous Sclerosis Complex Research Program. And that’s pretty much all you have to say…that as one of their constituents, you want them to sign ASAP. If you suffer from, or know someone who suffers from it, you can personalize it. If your only experience is through this blog, please feel free to share about Connor. This is my most recent follow up to my representative. It was quick and easy to send:
Dear Representative Price,
I’m writing to urge you to sign the Dear Colleague letter to fund the Tuberous Sclerosis Complex Research Program. The deadline is April 15. This research doesn’t just help those afflicted with TSC. It also helps those with traumatic brain injury (which is why this is funded by the DoD), epilepsy, autism, many cancers, diabetes etc. In February, I met with you, along with two other constituents, Reiko Donato and Wendi Scheck, to urge you to sign this. We also shared letters and personal stories with you from several other constituents who are also dealing with this genetic disorder that causes benign tumors to grow on the organs. We are counting on you to represent our needs in Washington. We are eagerly watching the growing list of signers, hoping to see your name appear.
Not sure who your rep is? Look here. Then just go to their site to get their e-mail!
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.
I’m going to out myself. The other day I received a package from UPS. There was a powder inside. White powder. I have a problem.
But let us go back in time, to when the problem began. I was a relatively healthy kid, no stick, but not fat by any means. In high school, I officially spent some time as “skinny.” As in skinny enough to get some attention for being “skinny.” It’s like a drug. The attention makes you high. And I got that way because two of my friends threw themselves equally into exercising obsessively along with me. In retrospect, I think I may have qualified as an exercise bulimic because every time I ate something I felt the compulsion to jump, dance, or run around to burn it off immediately. It was a pretty impressive weight loss considering one of the girls in the trio was something of a compulsive liar, and apparently a saboteur as I discovered sometime later in a shop on Buford Highway. My beloved, and as she claimed,low fat, low cal Indian cookies she always had on hand for me at her house were quite the opposite. But how was I to know? It’s not like I could read the label.
But eventually I got bored, hungry and spent more time with other friends, so the exercising waned, I put on a little weight, but not too much and all was fine for my senior year. Then I went to college. Forget the image of the starving student surviving on ramen. I had the meal plan! All you can eat, all day long. And here I was, with more freedom, booze and food than I knew what to do with. (disclaimer: The University of Georgia did not provide booze in the dining halls. Mean students who peer pressured me into drinking 😛 did) I love the pictures we snapped of ourselves that first semester at 11:00 at night as we got ready to hit downtown Athens, mostly because those are the only ones I look good in. Because then I gained the freshman 15. Three times.
After graduation, I used my journalism degree to obtain a high ranking position at Barnes & Noble (see cashier, bookseller). The inability to find a full time job left me with lots of time to exercise again and so I began shedding my college souvenir weight. After about a year of being shocked at how stupid customers in a book store could be (I stupidly assumed we’d get a better clientele than Wal-Mart), I decided I was tired of hearing people whine about how we charged tax on newspapers and that this latte surely wasn’t decaf, so I took a teaching job in Daegu, Korea. I worked out here:
No, seriously. I walked into that building and paid them money with no expectation of being murdered. The movie Hostel hadn’t been released yet. I was innocent to the ways of the world. So despite a lifestyle of being surrounded by countless peers in their 20s who had expendable income to burn on food and drink. And drink. And drink. I did manage to keep from porking up.
I left Korea to face reality…oh, wait. No I didn’t. I went to Spain for two months and took Spanish immersion classes, as I had many Korean won to spend. This is where I started to mildly derail again. Fortunately, being in Europe entails lots of walking, which helped me somewhat fight the effects of Spanish hot chocolate. If you aren’t familiar, hot chocolate there has a consistency of cake batter. It’s thick and amazing. I want to get all Augustus Gloop around it and shove myself into the mug. I’m pretty sure I started to put a couple pounds on again.
The real trouble started when I went home. I started my master’s degree in education and also worked at Starbucks. We’ve already established that higher education makes me fat. Now I also had (unofficial) access to all the mochas I could ever want. I swear I had put on 20 pounds within three months of starting work there. And for those of you who order sugar-free syrup and fat-free milk but keep the whipped cream, well we laugh at you. Starbucks isn’t using Reddi-whip. The whipped cream alone will have Jerry Springer knocking your wall down before you know it. FYI: It’s made with heavy cream.
And so, by the time I began my student teaching I had once again gained a significant amount of weight. As I started my career, I once again began to hit the gym regularly and shed pounds. And I did great. I maintained. I ate well. I discovered that truly the best way to take weight off and keep it off is to make it about eating well and nutrition, not just weight loss. It was the best I ever felt as far as my weight goes. But then I met my now husband, and we ladies know how that often goes. Why go to the gym when you can go out to dinner. And so weight crept on again. This time I decided to reign it in before it got to hideously out of control, and began to lose weight. After some time I decided what better way to lose weight than getting pregnant? Sigh. I love my baby, but not this tummy. And that bring us to the present. I’m nearly 8 months from having Connor and I’ve been at a plateau with the leftover baby weight for about five of those months. I can squeeze into one pair of jeans, and I own about eight. I’m sick of wearing the same flowy shirts over and over. Even though I don’t believe in it, even though I’ve said there is no point in losing weight in a manner you can’t maintain, even though we bought an elliptical and stationary bike, I’m so flipping frustrated that I’ve decided to try the white powder.
Meal replacement shakes. Be afraid. Be very afraid. I like the art of chewing. This could get ugly.