Everyone has their own story to tell when dealing with TS. I was too young when Ricka was born to remember how things all went. I only know them as related by our mom. Ricka’s TS seems to be a random genetic mutation. However, that didn’t mean anything when our younger brother began having seizures at the age of 24. It took many months and several neurologists before they could figure out what was wrong. Finally someone ordered genetic testing, and he doesn’t have TS. He has an unrelated seizure disorder caused by something in his brain that was triggered by the long term use of Ultram (tramadol) for serious back pain. No one tells you that a potential side effect of the medication is seizures, do they?
So, back to Ricka. She is very severely affected by TS, with autistic tendencies, a mental age of about 15 months, and lots of different kinds of seizures everyday. Both of her hips and her nose have been broken. She’s had more stitches, staples, sprains, bruises and bumps than anyone else I know. She used to be able to walk, but is now too scared. At school they called her “the escape artist.” She learned how to open doors, and she was so quiet they eventually had to put bells on all the doors in her building. I think at one point, she wore bells so they could always find her. Thankfully, she has never disappeared when I was in charge of her.
For me, life with Ricka is just my normal life. It’s what I’ve always known. With only 18 months between us, I was too young when she was born to have learned much about life without her. The things that I’ve learned when dealing with TS have kept me on my toes as I go through my own health problems, back surgery, and further treatments. I know when to fight and when to stop. I know to always be ready for anything. As a child, I always kept a bag packed with enough materials to keep me, Ricka, and our brother entertained for up to several days. We never knew when we’d be headed to the hospital, and there wasn’t time to waste gathering stuff to do. We also didn’t know when someone could come pick up my brother and me, so we had to be ready to stay at the hospital too. Advances in technology have made it so much easier. My laptop, Kindle, an iPad with movies on it for Ricka, snacks, and a charger for everything is enough for us now.
When we were young, before my brother was born, Ricka was in the hospital so much that I was allowed to walk around the hospital alone pretty often. Nurses and other staff members recognized me. My mom is still proud of the fact that I never got lost and could direct other people around. Maybe that’s one of the things that helped shape my good sense of direction now. Who knows?
I grew up pretty fast thanks to Ricka’s TS. I have always been her caretaker, and at nineteen, I became one of her guardians. It’s a scary thing to be in charge of someone else, but even more so when that person is your sibling, close in age, and so medically needy. Today, almost nothing freaks me out because I’ve probably seen it in my journey with Ricka or the other folks that I’ve been lucky enough to work with doing care for families. There are positives and negatives to growing up fast and seeing so many things. Some days, positives outweigh the negatives, and some days it’s the other way around.
I don’t know what the future holds for Ricka. I do know that she will always be loved and cared for at home by people who love her. I know that if something happens to our mom, I will be solely responsible for her. My brother lives nearly 2000 miles away and doesn’t want to be involved anyway. I know the importance of planning ahead now.
I have wanted to be a mother as long as I can remember. You can imagine the heartache my husband and I experienced when we didn’t have our first child for almost 9 ½ years. I felt so much joy when our son finally arrived, but I also felt a twinge of fear. I couldn’t explain it. I just didn’t feel that everything was all right. After Nami’s birth I was told both apgar scores were 9, and I tried to have that great news reassure me that we had a healthy boy. It didn’t. I just couldn’t shake the feeling inside me that something was wrong. I tried to convince myself that it was just because I wasn’t used to receiving good news, considering many challenges I’d had up to that point in my life. I tried to tell myself that I was being a pessimistic person and that I should enjoy my dream to be a mother finally coming true.
A couple of significant things happened in the hospital after Nami was born that didn’t seem quite so significant at the time. First, he basically came out arching his back. My mom questioned my dad (Nami’s pediatrician) about it. I could see my dad trying to keep an open mind and discussing many possibilities of why this was. One was that sometimes babies with neurological issues do that. Second, a CNA noticed a weird heart beat and notified the other staff. An EKG was ordered and the results came back as normal. We left the hospital being told we had a healthy baby boy.
I kind of succeeded in being able to relax for the first three weeks of Nami’s life, enjoying lots of cuddle time. When Nami was three weeks old, I took him to my parents’ for my sister to take some pictures of him. Near the end of the photo shoot, I noticed two white spots on the back of Nami’s leg. I am embarrassed of my reaction now, but at the time I started freaking out. I started to cry and ask, “How could my beautiful child have to have such ugly spots on his leg? Are they birthmarks? Is it vitiligo? This is so unfair!”
I remember badgering my dad with questions about the marks. He remained calm like he always does when I’m frantic about something. I told him that I had had a dream about my son having vitiligo and I just knew that’s what it was. He told me not to get ahead of myself, but that he would call the dermatologist and see what he thought. I left that night feeling angry that my son’s physical appearance wasn’t perfect. I thought, “How could this happen to us after we endured so much before he arrived?”
Over the next couple of days I noticed more white spots appearing. (I now know that Nami was born with the white spots, but as his jaundice went down and the pigment of his skin appeared, the white spots started to appear.) We finally heard from the dermatologist who suggested using a cream to see if it was eczema and we could clear it up. I was a bit suspicious that my dad wasn’t telling me everything so I pressed him about what else these spots could mean. He said that sometimes spots like this could be ashleaf spots and are a sign of a very rare neurological disorder, but that he didn’t want me to have to worry about that until we ruled out eczema. I let the issue go, but I felt that my dad was trying to protect me from something he knew was a possibility…something that was really bad.
For the next couple weeks I put the cream on Nami religiously. I checked his spots multiple times a day and even convinced myself at one point that they were getting better. Then I checked the next day and they were still there, as clear as ever. We made an appointment to see the dermatologist. I continued to feel like my dad knew more details than he was telling me. I feel now that he was hoping that he was wrong in thinking that it was TSC and he wanted to get the dermatologist’s opinion before verifying the horrible news.
While at the appointment, I could quickly see that we were not going to receive good news. The dermatologist tried to mask his sadness for us as he confirmed that the white spots were ashleaf spots and that he felt our son likely had Tuberous Sclerosis Complex (TSC). He printed off a couple of pages from one of his medical books to read over. I felt my body instantly go numb. I couldn’t believe this was really happening. That night I cried and cried and cried. I hugged Nami tight as my tears drenched his head. The dermatologist and my dad tried to keep reassuring me that there was so much variation within this disease and not to think of the worst. But, there that feeling was again. I knew something was horribly wrong. I felt my child would have it all.
It’s amazing to me how little I knew about TSC at the time considering the knowledge I’ve gained with my new obsession over the last four years. I recorded my thoughts in an email to my family the next day:
“So, what do I know? This is most likely a genetic mutation that can cause many problems. The problems range from neurological problems such as Parkinson’s and seizures to a 50% chance of mental retardation. ADHD, autism and tumors on various organs such as the brain, heart and kidneys are all possibilities. Major skin problems, eye problems and teeth problems are also possibilities. It’s difficult for us to know what Nami will have to endure until he gets some testing and experiences things as he grows. Dad is a lot more familiar with correct side-effects than I am. My mind is not too sharp right now, so I don’t want to say something wrong. I know the biggest thing we need to do is some genetic testing. It seems that dad also told us of about 5 specialists we’d need to see right away. We’ll need to get an EKG and brain wave test, an MRI and eye testing as well as some other tests that I can’t remember. He will have to get an MRI and eye test yearly. Whew…this is overwhelming!
This summer will be very different than what I expected and it’s only the beginning. I kinda feel like I deserved more of a break than I received with struggles, but I guess that’s selfish. Salesi and I have been through so much and grown through it all. During our most difficult times I felt that we were being prepared for something else. Those thoughts SCARED me but I guess I was right. It seemed quite a pessimistic view on life, but I’ve learned to be very tentative with good news. I’ve learned to try not to get so excited because it seems like disappointment is always around the corner. Throughout Nami’s birth, I took all good news in stride but had a dull gnawing sense that I didn’t know everything. My thinking throughout his short life and in the past has been that our child would be autistic. I am wishing that was it. I am wishing that what was first a disappointing discovery of what I thought were birthmarks were just that. My perspective on life has changed in an instant. Now I can see that ALL the difficulties I’ve experienced in my life have prepared me to be ready to take care of this special child. I am not shocked at this news although I can’t express the heartbreak I feel. I think I was prepared to receive this news so that I would be able to stay sane and make the choices I need to that are in Nami’s best interest.”
So far it has been a really tough road for us. Nami didn’t get the easier road with TSC (I say that knowing that “easy” and “TSC” do NOT belong in the same sentence). We have been told he has hundreds of brain tumors (no one is able to count exactly how many because there are too many), both cortical tubers and numerous SENs. He has an eye tumor, dozens of heart tumors (including one on his mitral valve which makes his blood kind of backwash), kidney tumors and cysts, and he already has 3 skin manifestations of the disease. He started having infantile spasms when he was 4 months old and has endured seizures most days of his life. He is currently having anywhere between 100-300 seizures daily despite being on 4 anti-epileptic medicines. We have made numerous trips to the ER due to seizures we cannot stop. Most of the time he is admitted. Our son has stopped breathing twice and had to be intubated and life-flighted both times. Nami is autistic. He can only say a few words and most of the time he only says them with prompting. He has major behavioral issues and at times he lashes out and can be destructive. He does not have good sleeping patterns. I feel like Nami would be much worse off were it not for my dad, though, the best pediatrician in the world (no I am not biased =).
I think back on the day I first saw Nami’s white spots. Oh how I wish now that the marks had just been birthmarks. It’s amazing how perspectives change so quickly. In a few short weeks I went from being extremely vain to wishing for all my son to have is some simple marks on his skin. Despite all of Nami’s challenges, I would not change him for anything. He is the light of our lives. He endures so much yet he smiles and laughs a lot. He loves his little brother. He sees the world in a unique way and teaches us to take time to see things his way too. He brings light to everyone who comes in contact with him. He hugs people. He makes us want to be better people. Every accomplishment he makes is a HUGE celebration. He is a FIGHTER! We are so blessed to have him as our son.
By guest blogger Jennifer Simmans (Dallas-Fort Worth, Texas)
On a lovely day in the spring of 2009, my husband and I walked through the doors of the Tuberous Sclerosis Clinic at Cincinnati Children’s Hospital. I was, on two previous occasions, accompanied by my mom, but this was the first time for my husband to come with me since our wedding in 2008. After checking in, we went to the waiting area where I saw the usual scene: a handful of patients, mostly children, accompanied by their parents. Some were in wheelchairs, some were sprawled out on the floor playing with toys, and the moms looked on with such evident love and care. We found some empty chairs in a corner of the room, and as we were sitting down, I noticed a woman sitting alone. She wore a red shirt, black shorts, and had the familiar signs of someone with TSC. I have two noticeable patches of angiofibromas on my face; this woman’s face was covered. I struggled to peel my eyes away from her, not because of the angiofibromas, but because of the sadness that pierced my heart upon seeing her. This adult woman was all alone at the clinic. No loved ones accompanying her, no child in attendance, no spouse there to hold her hand. Mixed with the sadness was an overwhelming sense of gratitude as the thought struck me – I’m not alone in this. While I so often dwell on the negative aspects of life with tuberous sclerosis, I take heart knowing that with each step, with each turn of the page in this story, I’m not alone.
My mom describes the spot on my face as a red, vein-like mark when I was born that developed into a strawberry-shaped patch by the time I was in grade school. The area on my neckline developed over time until I was in junior high, and the shagreen patch on my back started appearing and spreading over the course of those same years. My childhood involved occasional treks from doctor to doctor trying to get at least some idea of what these things were on my skin. Anytime we would visit yet another doctor, the response was either a blank stare or the man awkwardly fumbling through his ancient medical tome. Each visit ended the same, with my mom sighing and us returning to the parking lot with questions still unanswered.
Fast forward a few years to my early twenties. I graduated from college in 2004, and spent the next year deciding on what the next phase of life would entail. After weighing different possibilities, I opted to pursue a masters degree in counseling. My then-boyfriend-now-husband and I individually decided to apply to the Southern Baptist Theological Seminary in Louisville, KY, where he would receive a Master of Divinity in pastoral studies and I would work towards my Master of Arts in counseling. Just prior to our move in the summer of 2005, my mom informed me of a new dermatologist she was seeing and suggested that I make one last attempt to see if he might shed some light on my skin abnormalities. She accompanied me to the doctor’s office, and the difference from previous doctor visits was remarkable. Within ten minutes of him looking at my skin and fingernails (a couple of my nails have visible tubers underneath), he looked me straight in the eye and said, “I’m pretty sure you have tuberous sclerosis, more commonly referred to as TSC or TS.” He then ordered a biopsy of the shagreen patch on my back. Just like that, days later, I had an official diagnosis. The dermatologist didn’t want to overload me with information, but gave me a few pointers and places to begin my personal research. He also recommended lining up a variety of doctors after moving to Louisville to begin the process of having additional tests run. A few months after the move, once I was a settled and had medical insurance in place, I researched dermatologists in the area and was able to get an appointment fairly quickly. The dermatologist I met with confirmed the TSC diagnosis, and ordered scans for my heart and kidneys, as well as an MRI for my brain. Up until this point, all had assured me that these tests are protocol. I was given the assurance that medical concerns were pretty minimal as I was in the small percentage of individuals whose manifestations of tuberous sclerosis are limited to the skin abnormalities. The scans of my kidneys, heart, and lungs came back clear, so the doctor assured me that I could wait several years until being tested again since there weren’t any concerns.
The same dermatologist called me one evening after two weeks of waiting for the results of the MRI. I was scheduled to be in a night class on campus, but all plans for the evening came to a halt when the phone rang. I could hear the hesitation in her voice. The radiologist found a tuber on my brain roughly 5mm in size. While the spot was not of extremely considerable size in and of itself, the location was of concern. There was also the question of whether or not it would continue to grow since this was my first MRI at 23 years of age. The dermatologist then strongly advised that I get in touch with a neurologist, and also instructed me to have an MRI performed every six months to a year for the next three years so that we could detect whether or not the tuber would continue to grow. The weight and uncertainty of such news was paralyzing. What if something goes undetected? What if I develop additional tubers elsewhere? The questions came to mind like rapid fire as I sat in shock on the couch in my living room. I will never forget the quiet that came over my apartment after hanging up the phone. It was as if the air in the room had escaped and I couldn’t move. My boyfriend came over and spent the reminder of the evening at my side. I don’t recall having ever wept as much as I did that night. However, once the tears finally ceased, I again recall the stillness. Only this time the stillness was accompanied with a sense of peace. Not only did I have the comfort of my boyfriend’s presence there with me, but I knew in that moment that I was in God’s care. All I had ever known and been taught came into focus as I was reminded that God knew this day before it happened, that I was His child, and that I could rest in His care. That assurance—as frail as it seemed in the moment—was the only thing that prevented me from falling over the cliff into despair.
Over the course of the next year, I was lined up with a neurologist in Louisville who referred me to Dr. Franz at the Tuberous Sclerosis Clinic. In 2006 and 2007, my mom and I took the short day trip to Cincinnati and met with the clinic staff. The more I met with the team of doctors there, the more helpful information and encouragement I received. While there were still very real concerns with my diagnosis, I had a bit of assurance knowing that my case was so minor. More and more research showed that many patients have far worse ordeals to face in contrast to my own struggles. The additional MRIs indicated that the tuber in my brain had not grown, therefore, doctors felt it safe to wait several years until ordering the next scan.
Two short months after marrying my husband in 2008, I had a malignant tumor removed from a salivary gland in my mouth. While the link to TSC wasn’t certain, the nurse at the Tuberous Sclerosis Clinic said there was still the likelihood that it was related. My husband and I were deeply relieved when we learned that the tumor was fully encapsulated, and further tests or treatment weren’t necessary.
I made the decision in 2011 to have a CO2 laser procedure performed to try and remove some of the angiofibromas from my face. After having the procedure once in 2011 and again in 2012, I can’t say that much has changed. The dermatologist who performed the laser procedure informed of the possibility that there wouldn’t be long-term results, and she was right to warn me in advance. Skin tends to have a mind of its own, and the tissue is going to respond to a laser as it will. While I was quite disappointed with the lack of results, I can at least say that I tried. There is also always the possibility of trying a different doctor or researching whether or not a different procedure would be a possibility.
We moved back to Texas this past January, and with that will likely come finding new doctors and perhaps scheduling the next round of scans in the near future. I am amazed that over seven years have passed since this journey first began!
The greatest blessing through this journey has been my husband. I recall sitting with him shortly after receiving the news of those first MRI results, and him feeling utterly powerless to fix me. He wanted me whole, free from sickness and complications, and he was powerless to change the situation. And yet, he stayed. When I told him soon after that he was free of this burden, under no obligation stay with me long-term, he chose to stay. We entered into marriage knowing the difficulties we would face. He chose to marry me knowing that our “normal” would look very different from everyone else we knew. We had to have conversations early on that many couples we know never have to face. We aren’t asking the question “Can we have kids?” but instead “Should we have kids?” My husband is adopted, and the relationship he has with his parents encourages my heart. They chose to take him in as a newborn orphan, giving him a home and name, which displays so beautifully the love that God bestows on His children. Even before my diagnosis, we knew adoption would be on the table if we ever got married. While we long for children, and while I have days when I long for that experience of carrying a child, we know that God has the plans for our family in His hands. Any child we welcome into our home will be a gift, and at this point in our life together, we do feel compelled to pursue adoption.
God has blessed me in ways that often move me to a humble gratitude. Nothing I have been given have I deserved. I am surrounded by family and friends who support and encourage, most of whom respect our decisions pertaining to how we will eventually grow our family. And I quite honestly don’t deserve my husband. He loves me despite my imperfections, despite the ongoing, open-ended questions related to TSC. He knew our family would likely look different than that of others, and he married me in spite of all of that. My husband is a daily reminder that I am never alone. I cannot be driven to despair over TSC because of the Hope that supersedes all pain and sickness that come with this life.
“But we have this treasure in jars of clay, to show that the surpassing power belongs to God and not to us. We are afflicted in every way, but not crushed; perplexed, but not driven to despair; persecuted, but not forsaken; struck down, but not destroyed; always carrying in the body the death of Jesus, so that the life of Jesus may also be manifested in our bodies. . . .Though our outer nature is wasting away, our inner nature is being renewed day by day. For this slight momentary affliction is preparing for us an eternal weight of glory beyond all comparison, as we look not to the things that are seen but to the things that are unseen. For the things that are seen are transient, but the things that are unseen are eternal.” ~2 Corinthians 4:7-18
For those of you reading this who have the support of loved ones around you—Praise God for that, and praise Him that you have such tangible evidence of His care and comfort.
For those of you who—like the woman in the waiting room at the TS Clinic—are alone in this, I pray for you. I pray that you will come to know the hope and comfort from the God who will never leave you alone~
My son Joel was born on February 3, 2011. After struggling for a couple years with infertility, my husband and I felt extremely blessed when we were finally able to hold our precious miracle in our arms! Doctors did routine exams on Joel after he was born. They told us he was healthy, but they did notice a long white patch (almost looked like a blister) on his right arm. They had no idea what it was or what caused it, so we were sent to a dermatologist when he was around three months old. By the time we saw the dermatologist, the white patch on his arm had changed in appearance and texture. The dermatologist told us it was linear epidermal nevus–just a cosmetic thing and we had nothing to worry about. We went home that night feeling relieved.
Months later, when Joel was seven months old, he began doing a strange head nodding thing. He would slowly drop his head and then quickly jerk it back up. The first time he did it we weren’t sure what to think; we had never seen anything like it before. When it continued the following day we knew we needed to see a doctor. We quickly scheduled an appointment with his pediatrician, and we tried our best to video record the heading nodding episodes to show the doctor. The pediatrician watched the video but almost sent us home, telling us he didn’t think we had anything to worry about. I knew in my heart there was something wrong, so I spoke up and questioned whether it could be somehow related to the white patch on Joel’s right arm. He was honest and said he had no idea, but he would call the dermatologist to discuss it. The next morning the pediatrician called me and said we needed to see a neurologist because Joel needed to have an EEG as soon as possible.
An hour after Joel’s EEG we were able to see the neurologist to discuss the results. The neurologist walked in the room, sat down and said, “The EEG showed abnormal activity which we believe is seizures, mostly on the left side of his brain, so we would like to do further testing to rule out a condition known as tuberous sclerosis complex, which can cause tumors to grow on the brain.” We had no idea what she was talking about. We had never heard of TSC before that day. I honestly can’t even remember anything else that was discussed during that appointment… All I could hear was my baby might have tumors on his brain!
The next step was for Joel to have a sedated MRI. We were terrified. I couldn’t handle being in the room and seeing Joel be sedated so Jeremy stayed by his side. When he walked out with tears in his eyes, I lost it. He told me he never wanted me to see that. It was the hardest thing he ever had to do. The nurses told us to go have lunch while we waited. We walked to the cafeteria but we could barely eat anything. We kept looking at the clock, wishing time would speed up so we could see our baby again.
When we finally received the MRI results we were devastated. The MRI showed Joel has tubers on his brain. Further testing also revealed he has rhabdomyomas on his heart. The good news is we were able to control his seizures very quickly after trying only one medication.
The hardest part of this whole thing was that we were miles away from any sort of family support system. We were living in Washington state for my husband’s career with the Navy. Jeremy’s unit was supportive, but we still felt so alone. During our first Step Forward To Cure TSC walk we realized we were wrong–we did have a support system there. A group of military friends came out to walk with us so we wouldn’t have to walk alone. That meant more to us than any dollar we were able to raise! I still get emotional talking about it!!
These days Joel is doing well. We have to monitor his weight very closely though, because if he gains too much weight, he starts having staring spells and we have to increase his dosage of medication. We are also watching his developmental growth very closely because TS can cause delays. He is in a grey area, right on the border of having delays in certain areas, so I’m constantly fighting with early intervention services to get Joel the help he needs. It’s frustrates me that we have to wait until he is extremely delayed to get help. You would think it would make more sense to be proactive with speech and occupational therapies BEFORE he is too far behind!
We recently moved to Ohio to be near my husband’s family. Moving here has been great because we are able to see a TS specialist. It’s amazing to be able to talk to a doctor that actually understands the condition and everything that comes along with it!
In February I had the amazing opportunity to join the TS Alliance for March the Hill. A very special lady named Dee told me that every time the Alliance gets together it’s like a big family reunion… She couldn’t have been more right! Everyone was so welcoming and instantly supportive. I don’t know how to explain in words how it felt to be surrounded by people that understand what we’re dealing with. I’m counting the days until we can all get together again though–I can’t wait to see everyone at the next “family reunion!” 🙂
By guest blogger Laurie Mersberg (Round Rock, Texas)
When I was asked to share my story, I was first honored, then scared. Where to start? I guess the beginning…
I was born with the angiofibromas on my face in 1971. They had no idea; they just told my mom it was a heat rash. No big deal. Nothing to worry about. I was also born with a club finger and a double cleft palate, but no one connected the dots. I mention this because my club finger is my left middle finger and it matches my personality, strange and unique. It would come in handy growing up as I was picked on. I didn’t talk much due to my cleft palate. When I was 12, I had surgery and was on a liquid diet for a year. My jaw was wired shut for complete healing. When healing was done, I had plenty to say. I found my voice, not just physically, but metaphorically, too. Who knew I had such a sarcastic quick wit. I learned my voice and word was my weapon and club finger was like my sword, but not in any physical way. I found it usually stopped people in their tracks.
Jump ahead a few years to when I was 16. My mom came to me and said I had an appointment with a dermatologist. I was so happy these bumps were going be gone. I had such hope I was going be rid of this nightmare and be like all the other girls. This was not ever going to happen. They took a biopsy of the bumps on my face, then called us back a week later. I was ready for whatever they wanted to do. The doctor came in with a book sat down and said those words I will never forget. “You have tuberous sclerosis, but not to worry, you just have the side effects.” This doctor had no idea how wrong he was going to be. He showed me a book and said, “See, it could be worse.” It was pictures of children with Down syndrome, rashes all over, clubbed feet and cleft lips. He said, “You’re lucky, but I don’t recommend you have children because they can have a worse case.” I looked over to my mom. She had some tears. I thought it was because of the no babies most likely coming from me. She said, “I need air.” She called my dad while I waited in the car. When she got in, she said, “Well, at least you got your personality. You’re just never going be a pretty girl and you’re smart.”
I was shocked. She’d been vain, but I didn’t know it went that far. When I was little I used to ask, “Mama, am I pretty like Dee?” (my older sister). She would say, “Yes honey, you’re pretty…pretty ugly.” I didn’t know what she meant until I got older, but I did have my wit and sharp mind. I didn’t live at home. I was on my own shortly after I graduated. I had my apartment. What to do? I was tired of being an adult so I joined the United States Army. I thought, “Let them take care of me.” Remember, I was told I had only side effects, so that was good enough to get in.
I’ll skip over my military career and go to my next big hardship. I got married…well, got knocked up by my son’s dad-then we married. The army wasn’t happy. They get mad when their personnel gets a girl preggers. I was scared when I found out I was pregnant. I told my son’s dad about what the doctor said and the pictures he showed me. My son’s father was very Catholic. He believed the baby would be okay since I had just the side effect sand medicine had come so far since 1971. So I jumped in with both feet: wife and soon-to-be mother. A few days later we got a letter to go to Hawaii. We were not happy since we heard it was hard to live there on Army pay. The rumors were right. When I gave birth to my son, I had preeclampsia and toxemia. He was born one month early, but because of his size, they put full term. He was so beautiful and no sign of TSC. I was so relieved, and so was his dad. We spent three days at the hospital and then they sent us home. I had no idea everything would change in five days. My world would turn into a nightmare…
A week after I gave birth to my son, I got up to go to the restroom. I remember walking in and my left side went numb. Next thing I woke on the floor cover in urine. I cleaned myself up, woke up my son’s father, and told him what happened. He said, ”You’re over tired. Just get some rest.” Now here’s the part I totally don’t remember. My son’s father came home and he said he was banging on the door for 30 minutes. In Hawaii, there’s no A/C, so everyone keeps their windows open. All the windows were closed and locked. He could see in them and I was looking off, walking around in a circle holding my baby, but looking confused. He finally broke in. I had no idea who he was, or why I had a baby. He grabbed our son and me and we left for the hospital on post. He walked us in and told the doctor on duty, “Something is wrong with my wife. She doesn’t remember anything.” The doctor told him to take a seat. He said that I looked like I was on drugs. He told the doctor I wasn’t on drugs. The doctor told him to sit down, shut up, and he’d get to us when he could. Four hours later, a paramedic, an older man with white hair and a beard, walked by and asked my ex, “How long has she been like this?” My ex said, “Well, when I got home she was like this.” The old man asked, “How long was this?” My ex answered, “Four hours ago.” The old man got the doctor and asked if I been seen. He said, “No, she’s just another junkie army wife.” The old man said, “No, she is seizing and you’re helping to kill her! She’s in a static-epileptic state.” The doctor said, “She is not having seizures.” The paramedic told the doctor, “Since she is a civilian, I’m taking her to N.A.M.C.” It’s the big pink hospital on Oahu.
When I got there I had fever of 105, so of course they admitted me. They told my ex to go home. When he got home the phone rang and they told him to come back. When he got there they told him I was in a coma, medically induced, and to call family in case thing got worse. He was scared, confused, and not being told anything. So he made those calls not knowing what to say. I woke up four days later tied down to a bed. I was confused. The last thing I remember was peeing on myself. Why was I tied down? My ex walked in the room, looked at me, and ran out to get the nurse. A nurse and doctor came in to ask if I knew who I was and where I was. The regular neuro questions. They asked and I answered the best I could. I realized my speech was slurred. Finally I asked, “Why am I tied down?” The doctor said, “Well, when we took you out of the coma, you got combative and started swinging.” I said, “Woke from where?” They said it happened after a seizure. I said, “ I don’t have seizures.” He told me, “You do now.” Then I was off to the neurologist where he said, “You know you have tuberous sclerosis?” I said, “No, I have side effects not the actual disease.” He said, “No, there no such thing as just the side effects. You have it, and how dare you lie to the Army about your medical.” I was stunned, and he said, “Congrats, now you’re epileptic.” I said, “No I’m not.” We went back and forth, and he said, “I find it hard to believe you have never had a seizure before now.” I said, “I never have.” He called me a liar and walked out. They untied me, and I asked if I hurt anyone. Then a nurse came in with a black eye. I didn’t have to ask. I knew I did that. They explained I had a fever but they didn’t know why. After a month and a half they were still trying to find why my brain was being baked, when they realized I was having some brain damage. They were working hard to find what was going on and what woke my tuberous sclerosis. I wanted to know, too. All I could think of was that book from years ago.
One day while taking a shower, I noticed this bump in my stomach. I asked my ex to feel it. He was puzzled so he called in a nurse. She felt it and said that after giving birth, some women will have swollen lymph nodes. But she let the doctor know. Doctor after doctor all said the same thing. Finally one of the doctors I saw when I was pregnant came in to say hi. She felt bad because she felt her team missed something. We showed her the bump and her eyes grew big. She got on the phone and ordered all these tests. We asked what was going on and she said, ”I think you have an enlarged liver. If I’m wrong, we’re in trouble.” The next thing I knew, doctors and nurses were everywhere, sending me there, then saying to go here. I saw every part of N.A.M.C, more than any other patient they ever had. After all, it was a research and teaching hospital. After four days of being poked and prodded, they came in and told me what we all had been waiting for. Being there due to the seizures and high fever saved my life. They found a mass on my right kidney as big as a grape fruit. It had to come out it because it was being fed by blood vessels. They didn’t know if it was cancer. We were in shock and then they said, “There’s more. Both kidneys are full of tumors, and in five years you’ll die or be on dialysis.”
A week later I was in surgery getting this mammoth of a tumor out. They kept me in the hospital for six more weeks and used my body as a teaching tool until I had enough. They asked if I would go to the morning report. I thought there would be like five interns, but this was the last time my body was going to be used as a medical teaching tool. I walking in to this lecture hall full of interns. There were over 100 young, eager doctors, and they had my son in a bassinette. They talked about TSC (then it was just TS). They started disrobing me as each came up and gawked at the medical freak. I started crying, but as soon as I saw them by my son, that was enough. I screamed “I’m Laurie, not tuberous sclerosis!” as I put my robe on. I ran to my baby and ran down the hall. I was sent home. I guess the medical test dummy was no longer needed. As for the surgery, it was the most painful horrid thing I ever went through, worse than child birth, but I’ve always been a fast healer. Shortly after getting out of the hospital, my marriage broke apart. Whoever my ex married was no longer there. I was so different, I didn’t know myself. The army sent me and my son home, and they kicked my ex out honorably. He, of course, went back to his home in Louisiana. I came home to Texas.
I won’t tell you the long story of single momhood. The next few years I wish I could say were all roses, but they were not. Y’all might relate. I tried to be the best mom ever, and I loved being mom more than anything, but inside I felt numb and empty. There were days when I didn’t sleep and Tylenol PM was my buddy. I thought I was broken. I thought when I moved back my friends and family would be happy, and they were at first, but soon they saw seizures. Funny how out of the blue, plans to meet up changed, and they got really busy and family avoided me. I had what the doctors called uncontrollable seizures, and I was prescribed so many meds. One day my sister said, “If I was you, I would just kill myself. Really, like what kind of life are you ever going to have or your son?” It echoed so many times, so I did it. I took all my seizure meds and a bottle of wine, went to my room, and locked the door. Apparently, while taking pills with wine, I get chatty and like to call people. Next thing I knew police were in my room with EMT and all I said to them was, “I don’t remember it being share day.” I was sent to the ER and my stomach was pumped. Then I was sent to a psych ward. My stay there is a book in itself. I’m not proud of what I did; it was selfish. Then people asked, “What about your son?” I really thought he would be better off. The doctor filled me with so many meds, mostly lithium, not taking my TSC into consideration. I did three years of therapy. All of a sudden, I was always tired. If I did the dishes, I had to take a nap. It was like someone flipped a switch and all I could do was sleep. I saw my neuro and told him I was always sleepy. He ordered a test, and next thing, I was at an oncologist. I saw him a few weeks, then I was off to the nephrologist where I was told I needed dialysis. Do nothing and I’d be dead in a year, or do dialysis and get on a list. It wasn’t five years like the doctors in Hawaii said. It was six.
So now it’s been 12 years, and my TSC has taken every part of my body. Of my kidneys, half my right and all my left are removed completely. My liver is covered, my lungs (in women they call it LAM), my brain, and they’re in my bones. I have had over a hundred surgeries since 1995. My story sounds bad, but in 2005 I had a VNS and no more uncontrollable seizures. They also use the VNS with people with bipolar and severe depression. It works. I still have seizures, but not as hard. I have about 20 petite absences a day, and about six grand mals a month. As for the empty feeling, staying up days on end, and feeling like I was alone, well, there was a good therapist and friends who were always there. I had blinders on and I didn’t see them. I focused on the bad and was blinded to the good. It was about 2001 when I turned a big corner. I was Laurie and I wasn’t tuberous sclerosis. I was Laurie: the mom, friend, and daughter. I stopped feeling bad for being sick and decided I was no longer going to be a victim to this disease, but a survivor. I was coming back. Funny, sarcastic, quick wit, ME! With what VNS brought, and with the love of my son, people saw me, not the tubers or the deformed figure, just me. My son is now 18 and has seizures. Some doctors say he has TSC. Some say no. I tell him, “You’re not seizures. You’re Sean, who has seizures.” For years we have said, “I have an illness. It doesn’t have me.” Love and hugs to you all and many prayers…..
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.