Second Annual “Blogging for TSC Awareness Month” Day 16
by guest blogger Samantha Sinclair (Maple Shade, New Jersey)
Hi, my name is Samantha. I am from Southern New Jersey and about 23 years old. I was born with Tuberous Sclerosis and have had numerous laser surgeries beginning in adolescence and continuing into adulthood. I have multiple angifibromas on my face (with redness) and a few on other parts of my body, ash leaf spots (no pigment color of my skin in that section), skin tags (until they were removed), and 5-6 AMLs (angimylopomas) in total attached to my kidneys. I also had a large surgery last year in 2013 that removed an AML from my kidney through a process of three surgeries. I first had it embolized, then the AML turned into a tumor-like sack which was drained, and then it came back again and was completely removed. This was my biggest surgery besides the numerous laser surgeries I have had. I had 1300 milliliters removed from my body with that one AML. I felt extremely lucky to have conquered this surgery and move through the recovery process to live a healthy life.
I have had one seizure since I was 3, but prescriptions have helped prevent them from occurring anymore. I am blessed to say I have a mild case of Tuberous Sclerosis because I have not endured countless seizures or other cognitive obstacles. In May 2013, I graduated from Georgian Court University with a Bachelor of Arts in Psychology and am currently finishing up my first year in a Master’s Program for Clinical Mental Health Counseling at Georgian Court. In addition, I am very blessed to have my fiance, Eric, who loves me no matter how easy or difficult the circumstances. We have a lovely life, been together for six years and engaged for about two years. We are excited to be getting married in June 2016.
Overall I cherish many moments of my life because I have been able to live a healthy and happy life. My life encompasses warm memories of competing in sports from high school into college, and the arts such as musicals, drama club, and playing an instrument. I have been involved and held many leadership positions in many organizations and clubs on campus during my four years with Campus Ministry, Student Government Association, and Campus Activities Board, along with assisting many organizations with different events. I also really love to do volunteer work and have currently held two walks at my university over the past few years raising funds and awareness for Tuberous Sclerosis with the help of the TS Alliance. I am a fun, outgoing, understanding, and caring person who believes in living life to the fullest. I enjoy nature and I am always interested in new experiences.
I just joined the TS Alliance Group and even though I have organized a couple walks at my university to raise funds for TSC it’s nice to be apart of a group where you can share your helpful advice and provide support to others. I love learning about people’s stories, triumphs, and overcoming the obstacles. I feel very lucky for what I have accomplished and what I continue to strive to accomplish. For a long time over the years, I felt alone with TSC because I had no connections to others with various experiences to share, connect, and provide support to each other. Although my family and friends were there I wanted to feel connected with people who could truly understand what I was and still am going through. During those walks I organized I heard incredible stories that moved my soul. I admire all those people I heard stories from that were far more difficult than mine and I continue to look up to people who deal with TS on a regular basis and see the light in their journey. There is no light once you hit the end of the tunnel, the key is to look for the light throughout your journey and turn it into a positive. I look forward to being apart of this group, learning and being there for people, and hearing your experiences. I would say having TS has made me stronger and encourages me to live a full life every day. TS pushes me to conquer everything that may seem impossible and achieve my dreams which are endless. TS does not stop us. It does not define who we are; it is only a small part of our whole person. I learned if we never give up on what we believe or want to achieve in life, great things can happen in ways that you may never have thought possible. If anyone ever wants to talk, share stories, needs advice, or support I am here to help.
By guest blogger Jennifer Silva (Prince George, Virginia)
Most people never forget the day something tragic happens to their child. Little did we know September 19, 2002 would put us on a never ending journey. What started out as a normal morning that day, ended in exhausting weeks and months of the unknown. My first child Jared was born five weeks premature, after complications of preeclampsia. Even though he made his debut into the world much earlier than anticipated, he was the image of health. He weighed 5 lbs and 15 ounces, with healthy lungs and heart. He incurred a small bout with jaundice, but other than that everything was seemingly great.
On September 19, 2002, Jared was approaching 9 months old. He played that morning, with no warning signs of what was about to happen. Shortly after he laid down for his nap, I heard a very odd sound coming from his room. After a few moments, I went to see what the sound was. I was in total shock at the sight in front of me. Jared was in a full seizure, jerking about in his crib, and foaming from his mouth. His dad was home at the time and called 911. It seemed like an eternity, before the ambulance arrived. That seizure lasted more than ten minutes. Once at the hospital, doctors weren’t sure what had caused his seizure. His cat scan revealed what was thought to be blood. He was transferred to a larger hospital, into a PICU unit.
An MRI was done and we were told he had bleeding on his brain. After several days in the PICU, hospital social workers started questioning us as to what had happened to Jared. Jared moved down to a step down unit, and things started to get weird. We were being treated very oddly. Jared had been at the hospital for a week, when the local sherriffs’ department showed up and said that someone at the hospital had reported a possible shaken baby case on us. We were in total shock. Within days we were in court being asked by a judge if this had occurred. Of course it hadn’t. They put the poor child through a whole body x-ray to see if any broken bones had healed over from past injuries. The case was considered unfounded, and we left the hospital with Jared after close to two weeks has passed. The watchful eye of social services followed.
Months went by and Jared did well on his anti-seizure meds. An MRI follow up was done, and to our surprise, the blood was still there after months. That’s when they knew there had been a terrible mistake. Jared had a tuber, not blood. A little more time went on, and at Jared’s next visit, it was discovered that Jared had odd white spots on his back under a wood’s light. That’s when the words tuberous sclerosis came up. Of course, back then there really wasn’t that much info out on the web, and most of it was very traumatic information.
Jared went on about his childhood under the watch of his neurologist. He did very well, with few seizures and few tubers. As he got older things did change some. The skin abnormalities have come out (angiofibromas, café au lait, depigmentation, some forehead plaques), and some learning problems have been noticed. Jared did so well on the seizure side of things; he went for years without an MRI. Everything changed on December 26, 2011. Jared started having seizures and was rushed by ambulance to the hospital because he wasn’t breathing. It was determined that he had strep throat and had outgrown his seizure med levels. An MRI was done, and they found a SEGA. The SEGA didn’t cause the seizure, but it most likely wouldn’t have been known about, if not for the seizure, until it caused problems.
Initially he was just watched, but then we saw a pediatric oncologist who ordered a new MRI. It had been eight months since the seizure sets, and Jared had three SEGA’s by then. He started afinitor, and as of March 2013, his SEGAs have drastically shrunk. In June he will have a new MRI and go from there. Jared accompanied me to the March on The Hill in 2013. He saw how government works, and was amazed at all of it. We have had several publications about our story recently and I am glad to see TSC getting attention. When I took on Chair of the TS Alliance of Virginia, I knew then that I would have an uphill battle. But with a little effort change can happen. Jared is a typical 11-year-old child now; he has some issues, but we are grateful for all the new advancements in TS world. His father and I divorced years ago and have given Jared a large extended family. Jared is a special child, with lots of family supporting him.
I know one day he will help out others. He helped me stuff and mail out envelopes for our Virginia Educational Meeting in June. He said, “Wouldn’t it be great if all these people showed up to support TS?” The world needs more caring, compassionate 11-year-olds like Jared.
By guest blogger Pamela Wolthuis (Portland, Michigan)
My husband Chuck and I were married on May 23, 1997. I brought one beautiful 4-year-old daughter, Melanee, into our marriage. Little did we know on that day almost 16 years ago, that soon we would be on a journey we never expected, and that Melanee would be the only “healthy” child we would have. (Chuck loved her as his own, from the day we met on a blind date that she went on with us. He would eventually adopt her, as soon as he legally could). Less than one year later, on May 17, 1998, we welcomed our son Nicolas into the world. He was the cutest little boy I’d ever seen, and the joy of all of our lives. When he was about four months old, he had surgery for a hydrocele repair. He seemed to be fine, and then all of a sudden he was bringing his legs up to his chest, almost like he was doubling over in pain. He would cry, do this jerking with his legs, and it would go on for hours. Several times we took him to the ER, but by the time they got around to seeing him, he would stop, and they would send us home saying he was fine. We knew something was wrong, but no one seemed to believe us. I called the surgeon, but he was rude and arrogant, telling me, “He is fine. What do you want me to do, cut him open again?”
We took him to the family doctor, who agreed with me that if we thought something was wrong, there very well was a problem that we needed to get to the bottom of. His exact words I can remember to this day: “Pam, you can have a room full of the best doctors in the world, and you as a mom, know more than them about your child. If you say there is something wrong, I believe you.” He sent us on for testing at the hospital. Nicolas was set to have a ph probe, but while there, a resident looked at our baby, said he would like to do an EEG, and would that be ok? We said yes, but thought it was a waste of time. That resident was the one who cracked the case. I can still remember the neurologist coming into the hospital room and telling us our perfect, beautiful baby boy had a terrible disease called tuberous sclerosis. He told us Nicolas was having seizures. He had epilepsy. I vividly remember telling him, “Well, if you know what is wrong, fix it.” He said he couldn’t, that there is no cure for this disease, and that there really isn’t much even known about it. He left the room, and I remember just crying, telling Chuck to “tell him he’s wrong. There’s nothing wrong with our baby’s brain.” Soon another doctor came in, telling us, “All you can do is take him home and just love him for the three to four years you will have him.” Yes, he told us our baby would die by the time he was four. I was inconsolable, and Chuck was feeling like it was his entire fault because he was told he passed the TS gene on to Nicolas. They could tell, just by looking at him and the angios on his face, that he had tuberous sclerosis. The angios that he never had a name for up until that point, that he had always worried his baby would have, but that doctors had assured him were no big deal.
When the neuro came back, he told us the other doctor was wrong, and that Nicolas wasn’t going to die. It took many doctors to convince us that he wouldn’t die, but finally we believed them. The first doctor who had told us didn’t know and had told us the worst case scenario. Nicolas was started on a seizure med that didn’t help. The neuro put him on ACTH, a steroid injection given for seizures. It had terrible side effects and didn’t help our baby. At the next trip to the family doctor, he told us about Dr. Chugani in Detroit, who was a world renowned expert in TS. We were so lucky to be so close to him and were able to get in fairly quick. Nicolas was started on vigabatrin, a drug we couldn’t get here in the US, but had to go to Canada for. Insurance wouldn’t cover it, and it was expensive, so we went into serious credit card debt to obtain it. (More than a decade later, we were still paying for it, and finally had to settle it with the credit card companies, ruining our credit, so that we could afford to live. But we do what we have to in order to help save our children!) It helped, but he still had seizures and was beginning to regress. He was slipping into his own little world where he wasn’t interacting with us anymore. Dr. Chugani recommended brain surgery.
In June 2000, Nicolas had his first brain surgery. It didn’t help his seizures, so we were angry and regretted doing it. Then, all of a sudden, he was interacting again, and our happy boy was back! The surgery was successful, because even though it didn’t stop his seizures, it helped him developmentally. In 2003, we were advocating along with Dr. Chugani for more surgery. The surgical board recommended him, and he had his second resection. This time his seizures decreased. He still had some seizures and was still on meds, but he was progressing.
Fast forward another year…..We finally decided to have another baby, with the thinking that God wouldn’t give us two disabled children. On December 26, 2005, our beautiful Malarie was born six weeks early. Within an hour of her birth, she had her first seizure and was diagnosed with TS. Our hearts broke again, grieving for the “perfect” baby we prayed so hard for. That is what people who have never been on this journey can never fully understand. Although, yes, our babies are alive, we still have to go through a grieving process after a diagnosis. No, our child hasn’t died, but our hopes and dreams for what was supposed to be have died. We are forced into a place we never intended to go. But just like the beautiful essay “Welcome to Holland” teaches us, we learn that we are not in a terrible place, just a different place. So we learn to accept it, and see the beauty and good in it. It’s not a place we willingly chose, but it’s not a horrible place either.
Over the years our kids have seen more medical professionals than most adults ever do. Our list includes a neurologist, ophthalmologist, nephrologist, cardiologist, geneticist, gastroenterologist, dietician, neurosurgeon, dermatologist, physiacist, psychologist, psychiatrist, countless occupational, physical, speech, and feeding therapists, and pharmacists. We also have the whole special education team at school. The kids have had home based therapies, school based therapies, outpatient therapies, and soon, possibly inpatient therapy for our son. We have been fortunate to meet some outstanding professionals, and some have even become our friends.
Today our children are 20, 14, and 7. Melanee is a happy, intelligent college student who has more compassion than most young adults because of the experiences she has had with her “special” siblings. We know without a doubt that she will become a remarkable adult, wherever her path in life takes her. We worry, because when we are gone, she will become the guardian of her siblings, and is this really fair to her? She will be tethered to them, and they will always be a major part of her life. She has never once complained, and has reassured us that she WANTS to care for them when we are gone. We thank God every single day for blessing us with such an amazing daughter! Nicolas is now almost 15, but functions at a 3-4 year level. He is autistic, has behavior issues that can occur unexpectedly at any time, is not potty trained, and may never be. He takes eight different meds for seizures (which are still not completely controlled), behavior, and a nerve problem he just started with after his most recent brain surgery one and a half months ago. He is also the funniest, sweetest boy (when not in meltdown mode) we’ve even known. His laugh is infectious and comes all the way from his toes! Malarie is seven, but functions like an infant. She depends on us for everything. She is on six seizure meds and still has seizures several times per day. Like her brother, she cannot be weaned off any of them, because then she starts seizing constantly. She cannot walk or talk. She can, however, scoot on her butt across a room at an incredibly fast speed, and communicate with smiles and cries. Her smile can light up a room in no time at all.
This is our crazy, roller coaster journey of tuberous sclerosis. We go day to day, sometimes minute to minute. It isn’t always easy, but it isn’t always bad. Our days are filled with laughter, and sometimes tears. We have lost friends, and even family, along the way, who can’t understand or cope with the way we live. Our children will always come first, with no exceptions. We have learned the hard way who we can count on, and who our true friends are. For that, we are grateful. We know the miracle of something as small as a smile, or the quiet babbling of a child. It isn’t a life we anticipated, but it is a life we enjoy, filled with love and acceptance. In the end, isn’t that what everyone is searching for?
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~