By guest blogger Alison Walsh (Buckinghamshire, England)
I was about 16 weeks pregnant and had just been to see my cardiologist about my heart murmur, when he mentioned having the baby’s heart scanned just in case he had a valve defect like mine. I replied that it would be really cool to see a baby’s heart scan as I had never seen one before, and I was never offered a scan with any of my other children. As I wanted to see a baby’s echocardiogram, I mentioned the heart scan to my baby consultant and she said that it sounded like a good idea for just in case, so she sent off for an appointment for me.
I received a phone call from Oxford University Hospital a week later to confirm an appointment. I got a bit nervous for a few days because I thought the heart scan would be at my local hospital. My partner gave me a lot of reassurance that my other children were fine so this baby should be too. At 18 weeks pregnant we were driving to Oxford at 7 am. I was nervous but excited all the way there.
The prenatal heart doctor took her time to scan me, being quite quiet throughout the scan. She just explained and showed us the heart chambers on the screen. After the scan she told us that she may have seen something that she wanted to keep an eye on, but for us to try not to worry as it could be something, but it could also be nothing. She asked us to return in four weeks just so she could be sure.
At the next scan in Oxford, the prenatal doctor brought in a colleague to help her have a look. It was then that she told us that our unborn son had rhabdomyomas (heart tumours) and she was worried about three of the tumours as they were quite large. Also, one of the tumours was positioned next to his heart valve. The doctor also told us that my baby had a very high chance of having TSC, and the worst case scenario was that he would die before being born.
I went home and cried for a few days, when I suddenly thought that my other children could have TS, and if they did, they were all fine. So my baby would be, too. This thought reassured me until we returned back to the hospital two weeks later and the two doctors were waiting in the scan room for us. They scanned the baby’s heart, then told us that one of the tumours they were worried about was moving in and out of the valve with the blood flow. If the tumour got any fatter, it would get stuck in the valve and stop the flow of blood, resulting in the baby’s death. She made us another appointment and said, “Hopefully, if everything is okay with the baby, I will see you in two weeks.” She gave us a sad smile goodbye.
Well, my heart just broke. I started grieving for my baby as I waited for him to die inside me. I couldn’t sleep or eat for a week. All I did was cry, and when I stopped crying, and he stopped kicking, I cried even more thinking that was the last kick that I would feel him give me. It was the worst two weeks of my life.
Baby Theo was oblivious to my suffering, and he was growing well. Two weeks later, we went back to the hospital where the doctor said she was so glad to see us back, and she had been worrying about us. The tumour was growing longer instead of fatter, and they were still worried about it interfering with Theo’s blood flow as the tumour was causing a lot of pressure in his heart.
I was told that Oxford University Hospital head cardiologists and Southampton head cardiologists had been having a meeting about Baby Theo, and if he survived until I was 30 weeks pregnant, they would give me a c-section and operate straight away.
A few hospital appointments later the cardiologists had another meeting. They decided that as the pressure in his heart was high but stable, and as he was really too small to operate on, they would only do it as a last resort for him. We were told that if he survived until I was 34 weeks pregnant they would take him out then. But I had to have fetal echo appointments every week from 30 weeks pregnant. I was also told to prepare and starve myself before each appointment as I might need an emergency c-section if the pressure in his heart got any worse or if the tumour grew fatter.
The pressure in Theo’s heart grew slowly and steadily but didn’t seem to affect his growth in any way. Theo shocked the doctors again by surviving and thriving. We were told his heart would not take the pressure of birth, so he would be delivered by c-section at 37 weeks all being well. He would have to be in a special care baby unit for three weeks at least as his heart wouldn’t work properly after birth due to all the tumours, but they also explained that the tumours would regress after birth.
After Theo’s delivery he only had to stay in SCBU for three days because his heart was working normally and he was feeding well.
Theo was talked about by so many heart specialists that they all came to visit him in SCBU just to see for themselves how well he was doing. They couldn’t believe it, and one of the doctors even wrote a presentation on him, as they said his heart should not have really coped with all the tumours and their postitioning.
Theo was allowed home on the condition that if he looked strange or blue that we would phone an ambulance straight away, and that he was to go back for appointments every week.
Theo continued to thrive at home. We received confirmation that Theo did have TSC2 when he was three weeks old as they had taken blood from his cord at delivery.
I was ecstatic that Theo was still with me. He was a fighter and had survived against all the odds.
Theo did worry us for a while as he didn’t smile until he was ten weeks old and didn’t give a full on belly laugh until he was eight months old. I am very pleased to say that Theo is growing well, and though he gets a bit behind on his development, he then seems to catch up really quickly.
Theo has ash leaf spots on his legs and belly and sometimes stares off into space, which could be absence seizures. I try to catch them on camera to show the doctors, which is just hilarious as they only last 30 seconds, and by the time I get my camera, he has snapped out of it. He has had an MRI and we know he has multiple tumours in his brain and still some in his heart, but he is the happiest baby around. He’s always smiling. He is 10 months old now and he loves to cruise around the furniture, dribbling on everything as he goes. I think he would walk all day if I let him.
He loves his sleep and has slept through the night since he was a month old. He loves Mickey Mouse and he waves his arms and legs every time he sees Mickey on the television.
We live in hope that TS has affected Theo enough now and won’t affect him anymore.
By guest blogger Pamela Wolthuis (Portland, Michigan)
My husband Chuck and I were married on May 23, 1997. I brought one beautiful 4-year-old daughter, Melanee, into our marriage. Little did we know on that day almost 16 years ago, that soon we would be on a journey we never expected, and that Melanee would be the only “healthy” child we would have. (Chuck loved her as his own, from the day we met on a blind date that she went on with us. He would eventually adopt her, as soon as he legally could). Less than one year later, on May 17, 1998, we welcomed our son Nicolas into the world. He was the cutest little boy I’d ever seen, and the joy of all of our lives. When he was about four months old, he had surgery for a hydrocele repair. He seemed to be fine, and then all of a sudden he was bringing his legs up to his chest, almost like he was doubling over in pain. He would cry, do this jerking with his legs, and it would go on for hours. Several times we took him to the ER, but by the time they got around to seeing him, he would stop, and they would send us home saying he was fine. We knew something was wrong, but no one seemed to believe us. I called the surgeon, but he was rude and arrogant, telling me, “He is fine. What do you want me to do, cut him open again?”
We took him to the family doctor, who agreed with me that if we thought something was wrong, there very well was a problem that we needed to get to the bottom of. His exact words I can remember to this day: “Pam, you can have a room full of the best doctors in the world, and you as a mom, know more than them about your child. If you say there is something wrong, I believe you.” He sent us on for testing at the hospital. Nicolas was set to have a ph probe, but while there, a resident looked at our baby, said he would like to do an EEG, and would that be ok? We said yes, but thought it was a waste of time. That resident was the one who cracked the case. I can still remember the neurologist coming into the hospital room and telling us our perfect, beautiful baby boy had a terrible disease called tuberous sclerosis. He told us Nicolas was having seizures. He had epilepsy. I vividly remember telling him, “Well, if you know what is wrong, fix it.” He said he couldn’t, that there is no cure for this disease, and that there really isn’t much even known about it. He left the room, and I remember just crying, telling Chuck to “tell him he’s wrong. There’s nothing wrong with our baby’s brain.” Soon another doctor came in, telling us, “All you can do is take him home and just love him for the three to four years you will have him.” Yes, he told us our baby would die by the time he was four. I was inconsolable, and Chuck was feeling like it was his entire fault because he was told he passed the TS gene on to Nicolas. They could tell, just by looking at him and the angios on his face, that he had tuberous sclerosis. The angios that he never had a name for up until that point, that he had always worried his baby would have, but that doctors had assured him were no big deal.
When the neuro came back, he told us the other doctor was wrong, and that Nicolas wasn’t going to die. It took many doctors to convince us that he wouldn’t die, but finally we believed them. The first doctor who had told us didn’t know and had told us the worst case scenario. Nicolas was started on a seizure med that didn’t help. The neuro put him on ACTH, a steroid injection given for seizures. It had terrible side effects and didn’t help our baby. At the next trip to the family doctor, he told us about Dr. Chugani in Detroit, who was a world renowned expert in TS. We were so lucky to be so close to him and were able to get in fairly quick. Nicolas was started on vigabatrin, a drug we couldn’t get here in the US, but had to go to Canada for. Insurance wouldn’t cover it, and it was expensive, so we went into serious credit card debt to obtain it. (More than a decade later, we were still paying for it, and finally had to settle it with the credit card companies, ruining our credit, so that we could afford to live. But we do what we have to in order to help save our children!) It helped, but he still had seizures and was beginning to regress. He was slipping into his own little world where he wasn’t interacting with us anymore. Dr. Chugani recommended brain surgery.
In June 2000, Nicolas had his first brain surgery. It didn’t help his seizures, so we were angry and regretted doing it. Then, all of a sudden, he was interacting again, and our happy boy was back! The surgery was successful, because even though it didn’t stop his seizures, it helped him developmentally. In 2003, we were advocating along with Dr. Chugani for more surgery. The surgical board recommended him, and he had his second resection. This time his seizures decreased. He still had some seizures and was still on meds, but he was progressing.
Fast forward another year…..We finally decided to have another baby, with the thinking that God wouldn’t give us two disabled children. On December 26, 2005, our beautiful Malarie was born six weeks early. Within an hour of her birth, she had her first seizure and was diagnosed with TS. Our hearts broke again, grieving for the “perfect” baby we prayed so hard for. That is what people who have never been on this journey can never fully understand. Although, yes, our babies are alive, we still have to go through a grieving process after a diagnosis. No, our child hasn’t died, but our hopes and dreams for what was supposed to be have died. We are forced into a place we never intended to go. But just like the beautiful essay “Welcome to Holland” teaches us, we learn that we are not in a terrible place, just a different place. So we learn to accept it, and see the beauty and good in it. It’s not a place we willingly chose, but it’s not a horrible place either.
Over the years our kids have seen more medical professionals than most adults ever do. Our list includes a neurologist, ophthalmologist, nephrologist, cardiologist, geneticist, gastroenterologist, dietician, neurosurgeon, dermatologist, physiacist, psychologist, psychiatrist, countless occupational, physical, speech, and feeding therapists, and pharmacists. We also have the whole special education team at school. The kids have had home based therapies, school based therapies, outpatient therapies, and soon, possibly inpatient therapy for our son. We have been fortunate to meet some outstanding professionals, and some have even become our friends.
Nic right before brain surgery.
Today our children are 20, 14, and 7. Melanee is a happy, intelligent college student who has more compassion than most young adults because of the experiences she has had with her “special” siblings. We know without a doubt that she will become a remarkable adult, wherever her path in life takes her. We worry, because when we are gone, she will become the guardian of her siblings, and is this really fair to her? She will be tethered to them, and they will always be a major part of her life. She has never once complained, and has reassured us that she WANTS to care for them when we are gone. We thank God every single day for blessing us with such an amazing daughter! Nicolas is now almost 15, but functions at a 3-4 year level. He is autistic, has behavior issues that can occur unexpectedly at any time, is not potty trained, and may never be. He takes eight different meds for seizures (which are still not completely controlled), behavior, and a nerve problem he just started with after his most recent brain surgery one and a half months ago. He is also the funniest, sweetest boy (when not in meltdown mode) we’ve even known. His laugh is infectious and comes all the way from his toes! Malarie is seven, but functions like an infant. She depends on us for everything. She is on six seizure meds and still has seizures several times per day. Like her brother, she cannot be weaned off any of them, because then she starts seizing constantly. She cannot walk or talk. She can, however, scoot on her butt across a room at an incredibly fast speed, and communicate with smiles and cries. Her smile can light up a room in no time at all.
This is our crazy, roller coaster journey of tuberous sclerosis. We go day to day, sometimes minute to minute. It isn’t always easy, but it isn’t always bad. Our days are filled with laughter, and sometimes tears. We have lost friends, and even family, along the way, who can’t understand or cope with the way we live. Our children will always come first, with no exceptions. We have learned the hard way who we can count on, and who our true friends are. For that, we are grateful. We know the miracle of something as small as a smile, or the quiet babbling of a child. It isn’t a life we anticipated, but it is a life we enjoy, filled with love and acceptance. In the end, isn’t that what everyone is searching for?
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 husband and I always knew we wanted a big family. After the birth of our first child, we waited just a year before trying again. And kept trying. And kept trying. We were heartbroken to find out that we had “secondary infertility” and that it would be difficult for us to get pregnant again. After three more years of every procedure imaginable trying to conceive and countless prayers, God led us to adoption. While adoption is a wild ride unto itself, we were blessed to be led to Las Vegas, Nevada for the birth of our second child … Emily “Presley” Mylar . . . what a Vegas win! Her birth parents had been through some rough times and while they loved her very much, they knew they could not care for her in the same way that we could. We were overjoyed to bring her back to our home in San Antonio, Texas, and our four-year-old daughter was thrilled to be a big sister.
Presley ruled the roost since day one. She was vigorous and outgoing even as an infant. She talked early, crawled early, and walked at 10 months old. Starting at about 18 months, we thought she had hit the “terrible twos” early. But she never outgrew them! Her tantrums started getting worse and worse, and I would get a sinking feeling in the pit of my stomach when she had one, convinced that something was wrong. I even half jokingly told a friend of mine, “I bet she has a brain tumor!”
At age three and a half, Presley started having absence seizures. Except we didn’t know what they were. We thought she was ignoring us on purpose and being passive aggressive for a change. We even punished her after these episodes. Finally I called the doctor about what was happening and she had us come right in for a CT scan. We got the call that night that Presley had TSC. Of course this started endless research on my part and many doctors appointments to follow. We saw a geneticist, neurologist, dermatologist, ophthalmologist, dentist, therapist, psychiatrist and a cardiologist. We began trying seizure meds and finally went to the TSC clinic in Houston where they confirmed what all the other doctors had already told us. Presley had TSC.
This diagnosis began to explain her crazy behavior and the white spots on her skin. We found that she had tubers in her brain and we could expect a yearly brain MRI and renal ultrasound. We were told that her heart was clear, but we should expect kidney and lung issues and tubers on her face, nails, eyes and teeth. Her mental development could be stunted. She may not lead a normal life, only time will tell. Until then, hang in there, they told us.
Through the next couple of years, we did our best to manage her behavior, though it was very trying for all of us. Luckily, her seizures stopped after a year (though the doctors assure us that they’ll be back with a vengeance at some time).
At age five, Presley began kindergarten, and we found out that she was very smart but had many social limitations. This is when we began ADHD meds and her life (and ours) changed. We began to see the sweet Presley we knew was in there somewhere and she began to make friends again. Our family continued to grow (we have six kids now – yes, God has a sense of humor!) and the house was actually more peaceful than it had ever been.
Today Presley is an active fourth grader. She takes quite a cocktail of meds each day to keep the Sweet Presley on the forefront and the Impulsive Presley buried down. From Zoloft and Intunive, to very high doses of Focalin, we get a lot of looks and raised eyebrows from other doctors, but it is what is working for us.
As with many kids on ADHD meds, school gets the best of Presley. By the time she gets home, she is tired and cranky and we’re not quite sure what to expect day-to-day, though this is getting better as she matures. We found that she really needed an outlet to let off some steam and boy, did she find it! Her impulsivity and anger are heightened being in tight spaces, but when she hits the soccer field, no one can stop her. She has moved from YMCA teams to a club team here in San Antonio where she plays at a grade level higher than her own and at the top level of that age group. She makes all As in school and gets excellent marks in leadership, manners, helpfulness and CONDUCT. She has become a leader in her religious education classes and is wonderful (most of the time) with our younger children. We could not be more proud of her.
I have been very hesitant to post on the TSC facebook pages because I realize how blessed we are. I read about parents watching their kids struggle in school, socially or even to dress themselves. I see posts about surgeries and hospitalizations and hear of drug therapies we know nothing about. And I don’t feel worthy of telling our story. My little girl has a pretty mild case of TSC, but it has hit our family hard. We are blessed that she is bright, has not had kidney issues to date and has limited growths on her precious face, but her future health is not clear.
Whether we are dealing with mild or severe cases of this disease, we all have one thing in common: We want to kick TSC’s butt! Our family prays for all of you affected by this disease. We pray that Presley will continue to excel, to go to college without being tied to drug therapies and social boundaries, and to have a long and happy life. We love our Presley . . . our big Vegas win, and we will fight for her to win against TSC. Either way, we have truly hit the jackpot.
By guest blogger Heather Lens (Stillwell, Oklahoma)
I’m not sure where to begin except right here…
Our world forever changed on April 13, 2013. It actually kind of started the Wednesday before, right before church. I was feeding Maddie and she kind of had a twitch, but it honestly didn’t look like anything more than that. By Friday I started noticing a small trend. She was twitching when she was getting tired so I went straight to the pediatrician. They were going to refer us to a pediatric neurologist in Tulsa for an EEG to rule out seizures. It was going to take a week to get into them. At the time it seemed like a good thing…If they aren’t getting us in that day it must not be anything too bad. Once again, they weren’t crazy seizure like activities.
By Friday night, Chris and I had noticed these movements were looking worse and her face was making different movements that we did not like. Saturday morning we headed straight to St. Francis Pediatric Trauma Center. It’s the nearest children’s hospital to us. We figured that they would be the best place to go if something was wrong, since it was a children’s center. They quickly got us admitted after seeing a video of one of her episodes, and that’s where everything went a little blurry. The first round of testing began… They drew blood to check her blood levels. They were thinking her potassium, electrolytes or sodium may have been off which could cause seizures. They then did a 20-minute EEG. Maddie did great with the test. She laid there like a champ as they hooked her up to 30 or so electrodes. I think Chris and I were hurting worse at that point. Seeing your beautiful perfect daughter hooked up is an awful feeling. Later on that day the doctor came in and broke the first part of our not so great news. Her EEG was abnormal and they confirmed that she had a diagnosis of infantile spasms which are caused by hypsarrhythmia. It’s where the brain sends of chaotic brain signals. Even though we thought something may be wrong, the news hit us like a ton of bricks. They were going to need to put on a EEG for 24 hours and monitor her by video as well.
The placement of the 24-hour EEG was the worst thing I have ever been through. Maddie was screaming, and Chris and I could only sit there and look at her while she was in such distress. It was the most helpless feeling ever. She ended up being on the EEG for over 30 hours. On the third day of our hospital stay they were going to do an ultrasound on her kidneys and abdomen to look for tumors that could be caused by a disease called tuberous sclerosis. They said that some babies who have IS can also have tuberous sclerosis. They also wanted to do an MRI to take a look at her brain. After finally getting the 24-hour EEG off, they took her back for her MRI, which was under sedation. It was another experience that no one should have to go through. She screamed as they sedated her and was fighting sleep so bad. She finally gave in and they took her limp body back to the room. My husband and I both broke down. Watching our perfect little girl look so lifeless was absolutely heartbreaking. We later got the results back from the ultrasound that there were no tumors on her ultrasound and we were thrilled! We just knew her MRI would come back clean. Unfortunately, we were wrong. The MRI came back with tumors on it. This news was the most devastating news our ears could hear…We looked down at our baby girl with tear-filled eyes. We didn’t understand how this could be happening to her and our family? She has been healthy and had been hitting her milestones. How on earth could this be real? After emotions of hurt, sadness, guilt and many more, we felt the prayers and realized that these conditions just make our precious girl that much more precious. We let it all out and then turned our eyes to the only one who can comfort us, God. We knew that we had been put in a crazy spot for a reason. God had entrusted Chris and I to take care of this precious girl because He KNEW THAT WE COULD DO IT. What an honor to be her parents! We know we have a lot of work ahead of us.There will be a trial of medicines to try and stop these spasms, and unfortunately TSC will be a condition she lives with. That being said, we know some people live a normal life with this disease. We are hoping for that, but will not be discouraged if that isn’t her path. We will change our normal and make it a new normal. I dislike the word normal anyway…Who wants to be normal? Not Miss Maddie!
“Whenever God gives you a gift, he wraps it up in a problem. The bigger the gift you have coming, the bigger problem you will receive. But the wonderful thing is that if you look for the gift, you will always find it.”
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…
Laurie and her husband Kenneth.
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…..
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!
“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.
I was about 16 weeks pregnant and had just been to see my cardiologist about my heart murmur, when he mentioned having the baby’s heart scanned just in case he had a valve defect like mine. I replied that it would be really cool to see a baby’s heart scan as I had never seen one before, and I was never offered a scan with any of my other children. As I wanted to see a baby’s echocardiogram, I mentioned the heart scan to my baby consultant and she said that it sounded like a good idea for just in case, so she sent off for an appointment for me.
and she was worried about three of the tumours as they were quite large. Also, one of the tumours was positioned next to his heart valve. The doctor also told us that my baby had a very high chance of having TSC, and the worst case scenario was that he would die before being born.
A few hospital appointments later the cardiologists had another meeting. They decided that as the pressure in his heart was high but stable, and as he was really too small to operate on, they would only do it as a last resort for him. We were told that if he survived until I was 34 weeks pregnant they would take him out then. But I had to have fetal echo appointments every week from 30 weeks pregnant. I was also told to prepare and starve myself before each appointment as I might need an emergency c-section if the pressure in his heart got any worse or if the tumour grew fatter.
Mixed Up Mommy 