Tag Archives: ultrasound

Identical Twins Diagnosed With TSC

Day 27 of Blogging for TSC Awareness

by guest blogger Jobina Antochow-Piekema  (Clairmont, Alberta, Canada)

2012-11-09_16-31-07_926At our very first ultrasound we were given the great news we were expecting mono/di (identical) twins.

During a routine ultrasound at 25 weeks, we were told the twins both had cardiac rhabdomyomas and a possible diagnosis of tuberous sclerosis. At 28 weeks pregnant after fetal echos, ultrasounds and meeting with a geneticist she recommended we transfer to the USA and have an abortion as we were given the absolute worst case scenario of TSC. I immediately said no…these boys were moving, growing, and thriving inside and we knew we would take our twins however God chose to give them to us.

I was put on bed rest due to high blood pressure and stress. At 31IMG_8916297196671 weeks I was flown to Edmonton, Alberta Canada from our home in Grande Prairie, Alberta and at 32 weeks on September 23, 2012 I delivered our identical twin boys via emergency c-section. Layton Dale was born at 10:58 pm and at 10:59 PM Landon Walter arrived. After seeing them briefly they were whisked away to the NICU for evaluation. They were doing well and holding their own. Layton spent 35 days in the NICU AND Landon 41 days.

Life at home was an adjustment, but we managed until we had a follow-up cardiology appointment around 6 months of age and were told their hearts were still strong and the cardiac rhabdomyomas were not affecting their heart function. We began to breathe a little easier. The cardiologist believed the twins were in the 30th percentile that did not actually have TSC.

So life went on! We lived, we thrived! We lost my dad to cancer in March of 2014, twelve days after I married my husband. Then two months later we lost my husband’s grandma. It was an emotional rollercoaster. As things finally started to somewhat normalize, we had a follow-up with the twins’ neurologist who wanted to book them an MRI but believed they were in the clear. We left Edmonton happier than we had been in months only to have our world crash down around us ten days later.

We were camping and Landon woke up from his nap having what we assumed were seizures.  We knew right away…we hadn’t escaped TSC. We called 911 and we were life flighted to Edmonton. Watching my son cluster seize for 45 minutes at a time changes a person. After ten days in the hospital, CT scan, kidney ultrasound, opthomolgist, and MRI we were told by doctors tuberous sclerosis.  We knew…it wasn’t a surprise, but at the same time it was a shock. We asked so many questions, we cried so many tears,  we were worried about Layton. Genetics met with us to do blood work to see the test to identify the gene mutation in the twins…spontaneous TSC1 is their official diagnosis.

FB_IMG_1423273687587We were discharged not having the seizures under control, but once we had control we went almost five months seizure free. Then the seizures started coming back, but they were different. At first I doubted what I was seeing, until I looked into my precious little boys’ eyes and knew. We added another med and have seen great success.  We are almost six months seizure free.

Landon is progressing well all things considered. He has heart and brain involvement and some ash leaf spots. Layton has been cleared of any cardiac rhabdomyomas and has some ash leaf spots.

We have lots of appointments we have to travel for. We have no idea what tomorrow will bring. I am slowly starting to let the twins out of my safety bubble. And I am slowly starting to become somewhat human again. Having to grieve the loss of my dad, my husband’s grandma and my healthy children has taken a huge toll on me…all I want is to be the best I can be for my boys. We always pray for a mild case of TSC but know it is all in God’s hands.

Honestly,  some days it all feels like a bad dream. I wish I had the cure. I have met some amazing moms through the TS Mommies group on Facebook, and although we are miles apart, these woman have become my friends, my family and my go-to people! I treasure you all.

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#iamtsc #tscawareness #tscwarriors #piekematwinstscjourney #punchtscintheface

For the first time in my life, things were not in my control.

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Day 21 of Blogging for TSC Awareness

by guest blogger Debdatta Bhattacharya  (Portland, Oregon)

I had always been in control of my life. I faced challenges but I knew if I work hard I will get over them. I was born in India into a loving family and had an amazing childhood. After I completed college I wanted to come to the U.S.A. for pursuing my PhD in physics. My parents were not happy with my decision because it was so far away from home. But I was adamant; it was my life right ? After a couple of years of coming to U.S.A, I married my college sweetheart. Six years later, both of us got well paying jobs at Intel in Portland, OR. Life was good. Finally it was time to sit back and relax and enjoy all those years of hard work at grad school. In 2010, our first born, our daughter Bartika arrived in our life. Oh what a joyful time that was, the exhausting but delightful days of nurturing her and caring for her, the ecstatic feeling of bringing new life into this world.

In 2013, I got pregnant with my second child. We found out it was going to be a boy. Everyone was excited, “oh you will have one of each”. We personally didn’t care; we just wanted a healthy child. I started planning, like I have for all other major events of my life. We sorted through all our daughter’s toys, separating infant toys from toddler toys, packed them in separate bags. I hired someone to help me out in the first few weeks after baby #2 arrived. I can’t believe it now; I even almost planned the weekly menu with her so that there would be one less thing to do.

On my 37th week of my pregnancy, we went for a routine ultrasound. I was excited to see him one last time before actually holding him in my arms. After the ultrasound, my doctor came in the room and told us “there is something wrong with the baby’s heart.” Those words and her voice still ring in my ears. We were quickly packed off to be seen by a neonatalist. He had no idea what was going on other than the fact that my baby had unusual thickening in the wall of his heart. We were told that there is no guarantee he will make it out of my womb. Such cruel words told with such heart wrenching indifference. I felt like someone just stabbed me in my chest. My child was still kicking inside me; how could any of this be true? Later that night, we got a call from a pediatric cardiologist. He said it looks like your baby has “tuberous sclerosis” (I first thought he said tuberculosis). That was the first time we had heard this term. The doctors wanted to do a c-section, but they wanted to wait a few more days to give him a chance to grow a little bigger. The little signs around the house that showed our readiness to welcome the new baby came back to bite us. The new baby clothes delivered at our door step, the unopened car seat, the toys, the laid out crib seemed to mock us. For the first time in my life, things were not in my control.

The inevitable question of “why me” kept me awake at night. We were told “law of nature” by the doctors. But we had been good to nature, recycling, reusing, installing solar panels, driving a Prius, you name it, then why us? We have given to charity, been reasonably polite with everyone, been sincere and honest in our job, then why was our dream of a perfect life being shattered so ruthlessly. I haven’t found any answers yet. But with time I have realized that most people are basically good and nobody deserves to go through this pain. But life happens and other than gracefully accepting it we don’t really have much of a choice.

blog-2We had a faint idea that TSC could affect our child in multiple ways but at that point of time we were concentrating on his heart tumors. We went to Seattle Children’s Hospital so that he had all the heart surgery options if he needed any. My beautiful boy Arij, was born on 7th April, 2014. Miraculously he did not need any surgery or medication. All the doctors had told otherwise but he proved them wrong. It was overwhelming because my arms were empty and my baby was in cardiac ICU (just in case) and a bunch of MRIs and ultrasounds were being performed on him. I had about 48 hours of absolute happiness till the doctors came back and told us he had tumors in his brain. For the first time after his diagnosis, I opened the internet and started reading about TSC. I had intentionally stayed off because before his delivery there was nothing much to do with all that information anyway. I saw terms like, seizures, developmental delay, mental retardation, autism, mentioned in a matter of fact way all across the internet. My heart sank and I cried and cried. Was I not allowed to enjoy even a few hours of my baby’s presence before being engulfed in worries again? While I recovered from my c-section, I tried to make sense of all this information. We came back home after staying for 12 days in the hospital. The first night we spent at our home as a family will always be etched in my memory. It was such a happy feeling to be home as a family for the first time, no hospital smell, no monitors, no doctors.

My husband spent the next few weeks in doing extensive research on infantile spasms and what it looked like. We had realized that we can’t control everything but we will control whatever little we can. We installed a motion detecting video camera over our son’s crib so that we could detect the first signs of infantile spasms. We prayed that we never detect anything but unfortunately around two months of age he showed some early symptoms of infantile spasms. He was started on sabril and everything was under control again. I took time off from work and took care of him. A bunch of therapy sessions started around 4 months. He was doing wonderfully till he was about nine months. That is the time when new seizure activity started. More tears, more heartbreak and more panic followed. He started falling back developmentally. The local neurologist was unable to control his seizures. Arij being his sweet self, of course just smiled through this all. We finally decided to take him to Cincinnati TSC clinic. I am so glad that we took that decision. The medicines were changed and he was put on new medicine. It took a while for him to react positively to the medicines. Patience is not my forte but life taught me to be patient. He is doing much better now but he still has some seizure activity. He is still delayed developmentally but he is making steady progress. We celebrate all his milestones. We have learnt to find happiness in the smallest of moments. We are going to start him on afinitor soon with the hope that it will control the remaining seizure activities that he is having.

blog-4It is still difficult for me write down the positive aspects of this experience. I have lived most of my life without TSC and I was quite happy. TSC has taught me a lot of things but I wouldn’t have minded leading the rest of my life without these learnings 🙂 One of the key things is of course that I have to let go of things and situations and I can’t control everything. The other is patience. I keep working with my son on a certain skill, day after day without seeing the desired result. But when I get there, I can’t describe the satisfaction and sense of achievement that I get. I also got to know the true color of many of my so called friends. Some have abruptly discontinued all contacts with me and some have stepped up to give me emotional support. We will continue fighting this battle with Arij. Amidst all these uncertainties, there is one certainty; he will always be surrounded by unconditional love.

One Hour At A Time

Day 6 of Blogging for TSC Awareness Month

by Anonymous  (London, England)

I had a pretty normal pregnancy; all of our scans and tests showed that our beautiful boy was growing normally and we had nothing to worry about.

Our 36-week scan would be our last chance to see our boy before he made his big entrance into the world, so we were very excited. Little did we know that November 13, 2014 would be the day that our world would come crashing down.

“I see a tumour in the baby’s heart. I am going to ask a doctor to come in to double check,” said the sonographer. Within 10 minutes I had four doctors in the room, confirmation of several tumours and a probable diagnosis of tuberous sclerosis. I had the legal right to terminate, mental retardation, epilepsy all thrown at me by the doctors and I couldn’t utter a word. But inside I was screaming. This wasn’t happening to me; any minute now someone will say a mistake has been made, but unfortunately that minute never came.

The following week a fetal MRI showed brain tumours and a tuberous sclerosis diagnosis was confirmed.

I spent the next four weeks reading everything I found on the internet about TSC and I cried like I had never cried before. My heart ached for my baby, and it ached for my husband for losing the normal healthy son he was so looking forward to having. I resented every healthy baby and all the mothers that would never experience this overwhelming pain. Most of all I hated myself for being healthy but carrying a baby that had a disease that had no cure.

Eli was born on December 15. We had accepted his diagnosis and had great hope that we might be one of the lucky ones and his case would be a mild one. Once again God had other plans for us. Eli started having seizures from birth. Doctors gave us worst case scenarios and told us that the likelihood of Eli being a severe case was high as he presented with seizures so early on. That night I begged God that whatever Eli ends up with, please don’t take him away from me. To this day I refuse to ask the question about his life expectancy.

Eli is now 4 and half months old, we are at the beginning of our journey and the road ahead of us is long , there are many uncertainties that lie ahead.My heart breaks a little more with every test Eli has. People tell me that I’m strong but I don’t see what other choice I have. My son needs me to be strong for him. He needs me to fight this disease and not give up.

With every milestone that Eli meets my heart soars with happiness, but at the same time a crippling fear overtakes me; one big seizure and he could lose it all.

One night when I felt nothing but despair, a mother of a TSC child told me to take it an hour at a time and not think too far ahead. At times I catch myself looking at young boys out and about and wonder if my Eli will be like them? Will he ever talk, walk or have friends, but then I have to stop myself and come back to the here and now.

My boy smiles at me when he wakes up in the mornings and for that I am eternally grateful.

 

Connor’s version of March Madness includes an MRI and sedation

So much going on this Month but we made it.

We gave him a playroom, and he acted like he'd been sentenced to Riker's.
We gave him a playroom, and he acted like he’d been sentenced to Riker’s.

We still have a child named Connor, in case my lack of blogging made you think he had packed up and run off to Borneo as revenge for us regulating his iPad time.

Let’s back up to February when we heard a loud thump followed by crying from his room. We ran in to discover that we had a Defcon 1 situation and Connor had escaped the crib. He wasn’t so much hurt as I think he was surprised by the floor, so he transitioned to the toddler bed that week. I did not expect it to go well. We moved more toys into the room, added a gate to the door and removed all potentially dangerous and/or greasy objects from his drawers. The first night he cried and yelled for two hours and I had to rock him to sleep. Not because of the bed, but because baby gates have always inspired great rage in him.

IMG_3673But after that, piece of cake. He would actually get in bed and stay there. I was shocked. I had expected him to trash the room and pass out in various spots on the floor. Instead, he stays in bed until light begins to peek through in the morning, and then he’ll either go play or drag objects into bed with him. In the beginning I’d find him passed out in a sea of pants and diapers he’d dragged from the drawers (yeah, no idea) but he has since graduated to his puzzles and trucks. The transition has been incredibly easy as long as he has his Pillow Pet dog to shine on the ceiling.

Staring into is even better than watching the ceiling.
Staring into is even better than watching the ceiling.

March was probably the busiest month we’ve ever had.

Washington D.C.

Chris and I joined other TS Alliance volunteers from around the country again this year to meet with our congressional representatives and senators on behalf of our state. I’m excited to say that the Alliance got the most signatures ever in support of the Tuberous Sclerosis Complex Research Program. Georgia Senator Johnny Isakson was one of the authors of the senate Dear Colleague letter, and in the House of Representatives from Georgia, both Rep. Hank Johnson and Rep. David Scott signed on in support again this year. We were fortunate that the meetings were set for Wednesday March 4 since a snowstorm blew in and shut down the government on Thursday. Despite the cold, Chris and I got a lot of sightseeing done. And I only busted my butt on the ice once.

Boston

IMG_3995We flew home from D.C. on a Friday, picked up Connor from my parents and flew up to Boston on Sunday morning. I had booked an early flight since this was our last trip given Connor is aging out of the TSC study and I wanted to make the most of the day. I was not aware at the time of booking that we would be losing an hour of sleep thanks to Daylight Savings. We boarded our 7:30 flight, took off, and landed right back in Atlanta 10 minutes later due to an issue with the landing gear. I was tired and disinterested in dragging a sleeping toddler off the plane so my thought was, if we gotta land on it, let’s just do it in Boston. If it meant spending the day in the airport waiting  for a flight we weren’t going, but crazily enough Delta had a plane ready immediately so off we went. Boston was still covered in several feet of snow from the big storms the previous month. Roads and sidewalks were cleared, but space was tight with the mountains of dirty snow and abandoned cups on each side of the sidewalks (because apparently trash melts too when thrown in a snowbank).

While we were there we scheduled Connor’s annual scans. He had a brain MRI and an ultrasound (the recently updated IMG_4016protocol recommends an MRI of everything, but I just couldn’t seem to get someone on the phone that would make that happen this time). Since kidney involvement is common, we prepared ourselves for the possibility that Connor would have some sort of involvement by now, even though his previous scans at birth and six months were clear. When the tech came back to take additional photos after showing the initial pictures to the doctor we were pretty sure we were right. Connor does now have signs of TSC in his kidneys–innumerable minuscule angiomyolipomas. They are not problematic or affecting his kidney function, so we will just continue to monitor for growth. Hopefully they will not ever require intervention.

Weirdly, though I prepared myself for changes in the kidneys, I did not expect any change in the brain. There is no rational reason for that, I just didn’t. Turns out that one of his SENs in the ventricle has grown from 5mm to 7mm. It does not require intervention at this time, but the doctor recommended a followup in six months to be safe, rather than waiting the usual year.

So, not the best news, but certainly not the worst, or anything too crazy for TSC.

My crowning achievement of the trip was while Connor was having his MRI. I fell asleep in the waiting room, and awoke to the nurse telling us we could come back and see him. I jumped up in a half-asleep state of confusion not realizing my leg was completely asleep. I mean absolutely 100 percent numb and unfunctional. I crashed to the floor drawing a gasp of horror from an onlooker. I tried to get up, but couldn’t. My leg could not support any weight whatsoever. I looked really cool, but seemed unhurt…until we flew home that night. Then began the first of several days of my ankle looking like this:

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But I must reiterate — I looked really cool.

Katie Beckett and IEP

Upon return I dealt with the immediate turnaround of Connor’s Katie Beckett renewal paperwork. They give you like a whopping two weeks to get it done, plus it came while we were out of town and was due when we would be gone again. Thankfully, we had an easy renewal this year (assuming we get re-approved), requiring only some basic forms and not the common 10,000 pages of therapy notes.

Then we had Connor’s first IEP meeting since he’s aging out of Babies Can’t Wait. He will begin at the special needs preschool in April, attending Monday through Friday from 8 until 12. It went pretty well. Their goals were well in line with what we were looking for. He will receive 45 minutes of OT, 45 of PT and 60 of speech a week. Plus he will continue with private speech, OT, music and aquatic.

Connor’s 3rd Birthday Party

We celebrated Connor’s construction-themed birthday a week early since we needed to be out of town for a wedding on his actual birthday. He was very accommodating in that he doesn’t know what date it is anyway and never has objections to being given trucks on any given day. Rosie the dog donned her construction gear and I even tried my hand at amateur cake making:

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A few days later Connor went to my parents and we went to Antigua, Guatemala to round out a whirlwind month…but that’s my next post. Stay tuned so I can get all Rick Steves on you.

We didn’t know at the time that there was a 50/50 chance the baby would have it…

Second Annual “Blogging for TSC Awareness Month” Day 28

by guest blogger Krystal Meier  (Rochester, New York) 

WP_20130503_022My story begins in 2005. I was 20 years old and I had just started dating my husband. We had talked about it and I knew he had TSC when we started dating. I was aware that he had seizures daily and that he had a kidney removed at age 20. That was all I knew of TSC and I accepted all of it. Then I got pregnant. We didn’t know at the time that there was a 50/50 chance the baby would have it. I was not the most careful and I didn’t go to the doctor the first time until I was 16 weeks pregnant. We asked the midwife if she knew anything about TSC and the risk to the baby and she thought it could be like other genetic disorders where both parents needed the gene in order to pass it on. We scheduled our first ultrasound and left that day feeling pretty happy about things. At that ultrasound we were excited to see what we were having and had no idea what was to come that day and what would follow. The technician did the ultrasound and told us it was a girl, which was very exciting for me, but then she promptly left the room. I was scared and had no clue what to think about what was happening to me and my baby.  The doctor came in and went over all the pictures again and saw a giant tumor on the baby’s heart. He sent us from there to another hospital and genetics. On this day that I was so excited for I was told something heart breaking — and that was not even the start of it. We sat at a giant table surrounded by doctors as they told me all kinds of information that I cannot remember. All I wanted to do was WP_20130504_004cry. My baby was diagnosed with TSC and I was in and out of the hospital for tests weekly. There was a 10% chance the baby would survive and I took that chance and kept the baby. We did all the appointments, and in the  meanwhile, I was working. I had no idea what was to come and how much this would change my life forever. The weekend of September 11th in 2005 I was at a festival and felt like I couldn’t breath. I was getting no air in my lungs and could not take a deep breath. I called the doctor who told me to come right in and they would take a look. Everything from that point on is a blur in my mind and just small pictures but I can tell you what happened from others’ accounts. I was admitted and put on oxygen immediately. I was dying of heart failure as was the baby growing inside my stomach. My lungs were drowning in fluids and I had preeclampsia. I lost the baby and almost lost my life at that point. I had what was called a peripartum cardiomyopathy  cause by mirror syndrome. One would think that I would have given up on having a baby with my husband at that point. Not me. I wanted a baby and I wanted it with my husband. 

In 2007 I got pregnant again. The doctors followed me for my entire pregnancy and at my first ultrasound all looked well. They told me I should come back in a month and check to make sure all was still well. I was happy that all look good, but when a month came around I had to fight to get that ultrasound. I eventually was able to get it at 20 weeks and it was then my heart broke all over again. This baby, another girl, had tumors in her heart. I was filled with the anxiety that she would not make it. I was afraid to plan for anything too far out, but I also felt that I had to enjoy the pregnancy. I worked throughout my pregnancy and they planned to induce at 39 weeks. I was excited to meet my baby at that point but still slightly scared of what was to come. They induced me on a Tuesday and I was sent home on Wednesday because the baby just wouldn’t come. On Thursday I went in for an ultrasound and WP_20140521_001the baby hadn’t grown in two weeks so it was back to the hospital for induction again. Once again the baby was not coming and they wanted to check on her again. The baby was breech and I was sent for an emergency C-section. Fiona was born at 2:42 on January 18th. I was so happy but didn’t get a chance to hold her before she was swept away to the NICU. I went to the NICU after I was finally able to move my body. She was in the NICU for four days to wait for a duct in her heart to close and to see if her heart could function after it did. All went well and I was sent home after four days. Our lives were good, and aside from some appointments to check on her, our lives were pretty normal until she was seven months old. Early September in 2008 I started to notice her having infantile spasms and knew what to look for because we had her in to see a neurologist since birth. I wasn’t completely sure but I was guessing that was what it was, but I ignored it at first. I let it go until others saw it also. She was admitted to the hospital on September 11, 2008 and was kept for six days to monitor and get meds adjusted. By December 1, 2008 she was seizure free and stayed that way until October 1, 2010. That day was one of the most terrifying days of my life. She was sick and had gone down for a nap. She awoke and was just staring at the ceiling. I went to her and tried to move her head but it was locked into place. She was just staring ahead and could not move. This went on for 15 minutes and then she seemed tired but well. We rushed her to the hospital and on the way it started again. She was again unable to move, only this time she was vomiting all the while. She was still in a seizure when we arrived in the emergency room. They gave her a medicine that stopped it immediately and they ran all kinds of tests but there was no cause for the fever that she had earlier in the day that caused this seizure. Once again, after this episode, all was well. This calm period went on for about a year then she started having a new type of seizure. She would wake up and scream and rock and all sorts of other things. At first I thought it was a night terror until she WP_20130321_001-1started to have them during the day. She would be up 10-20 times a night and have 3-7 during the day. I called the doctor and he wouldn’t see her or even talk to me; he just sent me a message to increase her meds and add new ones. She was suffering this entire time. I reached out but everyone said it was just night terrors or a febrile seizure. I felt alone and I was getting no sleep. I was afraid of what was happening to Fiona and her behavior was awful. Finally I decided to take her to her primary care doctor and he got the neurologist on the phone. We set up long term monitoring for Fiona and she went in two days after her birthday in 2012. We were in the hospital for four days that time. It took four days to have a seizure during the day that didn’t follow a nap. It was a long and hard process but her meds were once again adjusted and it worked. Since then she wakes up once in a while with a scream. She has started to have episodes at school where her eyes go back and forth quickly and she sees things. These have only happened at school so I have never seen it myself. Every once in a while I will catch her eyes with a look that says maybe she might be having a seizure but it never amounts to anything and more recently she has complained about feeling funny. I hope nothing comes of these things and she remains seizure free. 

During this time I also had another baby girl. Bonnie is 3 and so far has no signs of TSC though she has yet to have any genetic tests done. When she is much older they may do an MRI to check to see if she has an signs in her brain but for now she is health and happy.

I never thought I would be writing this story. I never thought we would be living it.

Second Annual “Blogging for TSC Awareness Month” Day 25

by guest blogger Becky Ruppe  (Cumming, Georgia)


photoI will start off by saying how hard it is to sum up our journey as it is a never-ending battle and the past seven months seem like years. Our story with Tuberous Sclerosis Complex 2 begins with twins, after many times trying to start a family and after trying everything; as soon as we stopped trying, we were blessed with twins. We were so happy, but we would soon find out; everything was not as it seemed. As time progressed in the pregnancy, his twin sister passed in the womb from another rare disorder, Trisomy 13. Not long after all that, on ultrasound, the doctors found tumors in our son Ben’s heart. We were devastated by this news and still recovering the loss of his sister.  That day was tough and the first time we had ever heard the words Tuberous Sclerosis. I remember thinking there is no way we could have two rare things, but as time progressed more tumors popped up on ultrasound and we were told our son Ben had an 80% chance of having TSC. He had more than seven tumors in his heart and one that should have been blocking his outflow; it kept growing and growing. It was honestly a miracle that he was surviving, as the one blocking his flow was so large. We found every day was a challenge emotionally and we had nothing left to do but to pray for a miracle that we wouldn’t have to do an emergency c-section to try to save his life with open heart surgery to remove it.

We had fetal MRIs to look for tumors in his brain, but nothing showed up. Finally on October 23 we gave birth by c-section to our son James Benjamin Ken Ruppe, he went straight to the Nicu when born, he was not eating and was given a feeding tube and was given medicine to keep his blood flowing through his backup channel in his heart. We stayed hopeful, but by day three they did an MRI and we were walked into this tiny room and given the findings of his MRI. I remember that walk like it was yesterday, I had tears before we even made it to the door. They found multiple tubers and nodules in his brain and was given the actual diagnosis of TSC. It was heart wrenching, the hospital made it seem as though it was a death sentence, we had him baptized that night. We were clueless what was going to happen, would he need heart or brain surgery, would the medicine continue working, would he start having seizures, so many questions not one doctor could answer. Then two days later; our son Ben was able to come home. We followed up with three doctors the week we came home. It was overwhelming, scary and honestly I don’t know how we made it through all that.

Since giving birth, most of his tumors have reduced in size in his heart and he is currently in therapy once a week for muscle loss due to his TSC. He started photo-1having seizures New Year’s Eve and ironically those seizures did not show up on his EEG. He has had several EEGs,  and the seizures have become more frequent. About two months ago we were told his EEG reflected localization epilepsy with focal onset seizures. It has been really horrible to watch him go through all this. Every EEG brings tears for our son.

Thankfully, when we found out about the possible diagnosis of TSC, I reached out to the Tuberous Sclerosis Alliance and have met a really great support group. We also enrolled our Ben into two studies that we travel to Boston for.

Most recently we noticed Ben started to drop his head and we called his neurologist and went into the hospital for a VEEG.  Within an hour and half of him being hooked up, the doctor came in to tell us he was in fact having infantile spasms. The funny thing was that they give you this button to push every time he has an episode. I pushed the button twice during that hour and half. What I found out later, was that he had multiple spasms and clusters and other seizures that I did not even recognize. I will say it was very frustrating that nobody came in and showed me on the video — this is a spasm, this is a seizure. I was told by the Children’s Hospital in Atlanta that they do not have the medication Sabril, which I understand is the best med of choice to treat Infantile Spasms. This to me was a load of crap. How can you not have this medicine and why did we have to wait to get our son the best treatment when from day one we were told that Infantile Spasms can be deadly?

They said I had to wait and get it from his doctor’s office and they sent me home with Klonopin. He was already taking Keppra for complex partial seizures.  Thankfully, his local neurologist Dr. Flamini got us the meds in two days, but in my mind it was still unacceptable to be sent home without the best meds for his treatment.

Since coming home from the hospital Ben is having probably close to 70 + seizures a day.

We have increased some and lowered others of the meds he is taking. We are currently on day 4 and waiting for a change. His spasms have changed into something completely different, with the occasional head drop.  Now looking back, when Ben was 8 weeks old, he was extremely colicky. We took multiple videos and were always told it was nothing and that he was fine, but I know now, judging from his current colicky status (Infantile Spasms) that he was in fact having IS and or some seizure activity as a baby and because his EEG was not showing it and based on opinions of doctors, we delayed treatment. I also know that his infantile spasms are not the normal spasms you would see. They are not as defined and often rotate from one side to the other.  We also were told recently that he has multiregional epilepsy and that he is not the best candidate for surgery.

If I could go back, I would have started medication sooner, because who can help but wonder what damage has been done.  In five days, my son went from having excellent head control to having very little and he also went from being able to stand and put weight on both his legs to not being able to do that for more than a second.

This past Saturday we called 911, as Ben had a seizure that lasted over 20 minutes. The EMS came and they said his heartbeat was fast, but everything else was good and we just continued to watch him per his local doctor.  I am not sure how everyone else feels about giving your baby medications, but giving my Ben three medications twice a day is a struggle. It is hard… every time I have to mix it, I have to take a deep breath to get through it.

I will never give up on my Ben. My husband and I are in a constant struggle with acceptance, and no matter what people say, it is sad and it is hard. There is nothing that can describe watching your son, your sweet innocent baby boy, have seizure after seizure and all we can do is sit back, love him and watch. TSC is the worst pain in the world to us. We aren’t giving up, but we are giving in to the emotion that we are allowed to feel pure anger and a little helpless at times, as there are limits to what we can do for him — the rest is up to somebody else. I hate every second of every day that I have to watch him suffer.  Many will say that is not a way to live — nope, it is not — but it is our truth. We still check him to make sure he is breathing and we are still living and fighting and find massive amounts of joy in everything else our sweet Ben does — when he smiles and when he loves. Our relationship with TSC is completely unavoidable and that is what makes it suck and it is what it is.

Each day we face TSC, we face many challenges emotionally and financially and many sleepless nights. We want a cure so bad it hurts. You are never prepared for the what ifs. I never thought I would be writing this story. I never thought we would be living it. I never thought I would be giving our son three medications that make him totally not himself. I never thought I would be learning a whole new language. I thought I would be going somewhere completely different. I thought a lot of things. I have wanted to be a nurse my whole life, and I have wanted to be a mother my whole life. I thought so many times I would go to nursing school. I know now that that feeling of wanting all those things is now my reality, I got what I want and wouldn’t trade it for anything,  I am right where I am supposed to be. I thought having a child would be so different and that we would play normal people, but turns out we are, it’s just our normal day to day is just a little different than others.

I love every minute I have with my precious Ben, I love that I have been able to jump right in and take care of him. I love that I can make him smile. I love that my husband is such a great father and husband to me. I know that TSC affects us, but it also affects our friends and family, as they are constantly in this battle with us. We are thankful for all the support we have been given, by the TSC Alliance, the TS Mommy site, Dr. Flamini and all the doctors he sees.

photo-2We don’t know how the next year is going to go, we don’t know if he will stop breathing tomorrow from a seizure or if the next seizure will be the one that slows his development even more. Will he need brain surgery? Will his kidneys be affected? Will he be able to have children? Will he learn to walk and throw the ball? All the simple things in life; we are left wondering and hoping. We don’t know what kind of life he is going to lead yet. Will we as parents be able to afford the best treatment for him? Watching our son have seizures is something you can’t describe, there are no words. I do know that my son saved my life. If it was not for him, I am not sure I could have made it through the loss of his sister. So, now my husband and I are giving our life to him. I know now that his sister is in Heaven watching over Ben and our family and not a day goes by that I don’t think about how our life would be if we still had her with Ben, but I know now that that happened for a reason. Ben needed his extra Angel and she will take care of us and watch over our family.

We find great comfort with every second we have with him and every morning we wake up to his smile. The light at the end of our tunnel is holding onto hope that research in finding a cure for TSC 2 is continued and that one day there will be more options for treatment for our son and maybe soon medical Cannabis Oil will be legal in the state of Georgia, because after giving my son all of these  harsh medications, I have no doubt that I would choose that first before any of this stuff he is on currently.

My family is the best family in the world. We will never give up and we will fight every day.

Our story with TSC 2 will continue  and one day I hope we can look back on all these hard days and say, We showed you TSC… We showed you…

 

Joy Times Four

Second Annual “Blogging for TSC Awareness Month” Day 19

by guest blogger Courtney Bailey  

1236820_10202010593452499_960261714_nMay 23, 2013… the day that my got heart broken. Two weeks prior we had found out that we were expecting our fourth boy, yes four boys! The ultrasound went well but he was lying in a position they couldn’t get any good heart pictures. We went back to get some pictures of his heart. I knew something was wrong when she kept measuring and remeasuring and taking picture after picture. My husband, Phil , had to return to work. I sat alone in the waiting room until every last person was gone. When they finally called me back, a complete stranger told me that our son had some spots on his heart. She assured me it would be nothing and I just needed to get another ultrasound to be sure. Nothing to worry about she said. I knew differently.  On June 6, we learned that our precious son likely had Tuberous Sclerosis.  The tiny two white spots on his heart had turned into numerous large tumors, including a very large tumor on the outside of his heart. It was making his heart beat faster than usual and he was developing fluid around his heart. We made weekly trips to Iowa City for appointments, ultrasounds and echocardiograms.  Seventeen straight weeks of going for testing. I look back now and see all the trips as a blessing. I got to spend a lot of one-on-one time with my husband.  We grew closer instead of apart.

I was induced a few days early and my wish that I would get to hold him came true. I held him for just a moment and he was whisked away to the high-level NICU.  When they finally wheeled me to see Lelan, my husband mentioned that they were looking at a weird skin mark on his belly and that moment I knew for sure that he had Tuberous Sclerosis. He went through a multitude of tests. One morning a new doctor we had never seen came in and told us that his MRI showed multiple brain tumors. My heart was literally shattered in my chest; it was the worst moment in my life thus far. We got to take him home that day but I felt like my life was moving in slow motion. We still had three happy rambunctious boys to care for. I felt like I was constantly staring at10155615_10203637356680563_1669194936_n Lelan to see if he was having a seizure. Every twitch, jerk, wiggle — all over analyzed. It was making me insane. I was crying myself to sleep each night. My husband said I would even cry in my sleep. The constant worry, the heartache, the what-ifs were wearing me away.  I decided to change my view; there was nothing that I could do to protect Lelan. I had to just give up and let God protect him. God loves Lelan more than I ever could. We made many more weekly trips, tests, and procedures. The heart tumors they said would shrink weren’t shrinking until one day they had just shrunk drastically. The more I tried to let go and let God handle it, the more I was able to enjoy Lelan and the other boys, ages 7, 3, and 1, and not just worry about what was going to happen to Lelan and  this stupid disease that had stormed into our lives without a warning. I was back to enjoying my kids, my husband and choosing to be joyful and live with purpose.

Our story is better than a lot of other TS kids; being a TS mom can be a VERY lonely place. People don’t understand unless they are in the shoes. Lelan is 8 months now and he crawls and pulls himself up. He babbles Mama and Dada and he feeds himself. We are fully aware that at any moment he could start having seizures and our lives could change drastically.. But for now we are completely living in the moment.  We read that extra bedtime story, we sometimes have ice cream for breakfast, and we see each and every day as such a gift and blessing. I lay my head down every night and thank God that Lelan didn’t have any seizures. We use Frankincense essential oil on Lelan every day in hopes to shrink his tumors. He still has heart tumors and brain tumors, and he also has lost the pigment in spots on his legs and stomach. I have done a lot of research where frankincense can help or prevent seizures. I’m clinging to the hope that it will work for us. You can email me at Baileycp731@live.com if you are interested in more info on essential oils. We are blessed, we are lucky, and we are so very loved. My advice is to keep talking, don’t hold in the worry — it will eat you up. TS is a mean and cruel disease that is different in every single person. The what-ifs will take over your life if you let it. We choose JOY at the Bailey house.

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This Can’t Be.

Second Annual “Blogging for TSC Awareness Month” Day 17

by guest blogger Kelsey Hudson  (Moon, Pennsylvania)

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My husband and I got married in October of 2008, and in January of 2009, I found out I was pregnant with our first son, JJ. Everything was going good, I didn’t have any morning sickness and then it all hit me around four months. We went in for a regular check up and they said, “We need you to go to see a cardiologist.” I was beside myself. What do you mean a cardiologist? There’s nothing wrong with my heart.

They explained to us they couldn’t see all of the chambers of JJ’s heart. When we had our first cardiology appointment we found out that JJ may have a heart problem. After going for an echocardiogram 11 times throughout my pregnancy and my regular appointments, they labeled my pregnancy, “High Risk.” I was shocked. I was sad. I didn’t understand why. How could this be?

glue hairMy pregnancy was depressing. I tried to stay happy, but there was so much back and forth with his diagnosis because the cardiologist told us there was so much shadowing with him still being in my belly, that they couldn’t tell everything. This made me even more sad and mad. How could my baby have this? I had to drive over an hour to each appointment one way.

August came and they said, “We are going to induce you.” They prepared us that JJ could be in the hospital for a few months after he was born. We had everything set up with Ronald McDonald house, and my mom was prepared to be there through everything so my husband could keep working after JJ was born.

September came and they induced me. I was in labor, for what seemed like days! Then September 5th came and my beautiful baby was born! They had an echo done right away and came in and said they wanted to do one more before we left. “Before we leave?” I asked. The doctor came in and told us during pregnancy they thought JJ’s heart condition was a cor triatriatum, and after him being born and more echos they found out he had a left SVC. (Not as serious!)

I was scared! Scared you tell me my baby is going to have all these problems and now he can go home after almost a week? Of course I was happy too! After we discharged we continued going to see the cardiologist. When JJ was one month we moved to Pittsburgh, PA. We were here for not even two days and he started having breathing problems and GI problems.

Long story about JJ short, we were in the hospital 27 times in his first year and a half. He had many GI issues, pneumonia three times, a hernia surgery, nine ear infections, tubes, he went into Failure to Thrive and was put on a special diet with soy drinks to get him back to a normal weight. Around the age of 2 ½ everything started to settle down with JJ. He still goes to cardiology and has his regular pediatrician check ups, but all in all hes a happy, smart, loving, caring, and sweet boy!

My husband and I said we would never have more kids. This was crazy everything we went through. And so far away from family! We have no family in PA; they are all in Florida, Virginia, and Nevada. So it was definitely hard. He was working all the time and I was at home. I would work night shift when he jj and wyattwould get home.

We had a blast with JJ. He was the light of our life! We started having fun, and doing things as a family such a little trips and whatnot. JJ loved other kids. I always thought about how he would be as a big brother, but never thought I would get pregnant again.

When JJ was 3 ½ we found out I was pregnant. I said WHAT? I was happy, but SO SCARED. I started going to my first appointments and told them all about JJ and my pregnancy with him. So right away they said, “We need you to see a cardiologist for a few echocardiograms while you are pregnant.” Immediately I thought, really, again? I can’t stand to see another baby go through so much. I was praying everyday he was fine.

We had our first echo, and they said we need you to come back because we can’t get good pictures of his heart right now. So between waiting and the next appointment, I was freaking out everyday. We had a second appointment and they said, “Ok guys, everything is fine! He is a healthy baby boy!”

I cried! I was so happy! I was ready to have a “normal” pregnancy and get excited about having a family of four. We decided to name him Wyatt! Things were great. We continued working separate shifts, and that way JJ was always with us and doing fun things! He did go to a little preschool for a few hours a week, and really enjoyed that.

All in all, my pregnancy was good. I had a few pain issues and some other minor things, but my boss was a good friend and she let me take it easy at work. I then hit my 39 week mark, and nothing. No baby yet. JJ was born a few weeks early. So I was ready to have Wyatt! They told us I was going to be induced. I hit 40+ weeks! I went in on a Tuesday night and they induced me. I had Wyatt at 11:54 am on Wednesday, and around 5 pm that day I was feeling on top of the world. I asked to go home, haha!

They said if you feel good enough you can go tomorrow. So I went home Thursday morning. I had to take Wyatt to the pediatrician on Friday because technically he was leaving the hospital early, and they wanted to check on him and his weight! He was born 8.4, my big boy! Things at home were going great, and around three weeks old, Wyatt started breathing very noisily. We called his doctor, and they said take him to the emergency room.

I was scared again! Thinking, oh please no, everything is good, everything with Wyatt is supposed to be fine! Nothing should be happening. So, at 2 am I took Wyatt. They checked him out, and told us he had periodic breathing. We were told not to be too concerned and to keep an eye on him but to make sure to get him to cardiology to have a double check, because of his brother’s heart history.

I didn’t even know what to think. I was in tears. My husband and I were so scared. September 30 came and JJ and Wyatt had Cardiology appointments. They did an EKG, and echo for JJ, and said he’s looking great. We want him to have a MRI around 8 years old. But for now we can stick to his yearly echo’s and checkups! Then came Wyatt’s turn. We thought oh this is so crazy, and silly. He’s fine.

His EKG was abnormal. My heart stopped. His echo showed four tumors in his heart. We were speechless. At this time cardiologist didn’t have any idea what these tumors were or if they were a sign of anything. He said three were small and one was big. They had another doctor read the results and go over things before they called us back in to talk to us.

We were told to come back in one week for a 24 hour halter monitor. Then after we did that, he had a sedated three-hour MRI of his heart, a scope down his throat and met with an airway specialist. That three hours was the longest of my life. At this point I had no idea what was going on with Wyatt. On Halloween of 2013 we were told we needed to see genetics because they believed Wyatt had major signs of Tuberous Sclerosis Complex.

Tuberous Sclerosis Complex? Is this real? I have never heard anything about this disease before. Of course I Googled and that was when it all hit me. My mom and best friend did a lot of research with us, trying to make sense of all of this. How? Why? Again, Why? Not my Wyatt! They told us everything was ok.

sneakyAfter seeing genetics and doing the blood work, we found out Wyatt had TSC. His mutation was TSC2. My husband I were tested and we were both negative. I don’t even know how I felt at that moment. The weeks we waited to hear about the blood work we kept saying, no, yeah right, not Wyatt, everything is ok. Wyatt has ash leaf marks on his skin, but we thought those were birth marks! I felt so stupid for not seeing any signs.

It feels like we have been through so much in such a short period of time. From August 21, 2013 to January 11 2014, we had been to so many doctors, finding out so many new things about TSC. They also had Wyatt getting the Synagis shots for RSV once a month for five months, to help protect him from getting RSV.

January 11, 2014, Wyatt had his first seizure. JJ was sitting next to him, and I was folding laundry. JJ was scared and so was I. We called his doctor, and we went to the hospital right away. He stayed for four days. He had an MRI of his brain andwas on an EEG the whole time he was there, except when he had the MRI. I was so sad. I couldn’t believe what was going on. He was put on a seizure medication and after four days we went home.

When I got home I was afraid to even leave the room or set him down. I didn’t want anything to happen and I didn’t want to miss anything either. About a month went by and we started seeing him having infantile spasms. This was something they warned us and talked to us about. But again, I never thought Wyatt would have them.

He stayed in the hospital for three days this time. And they put him on another medication. These were the hardest to see him have. JJ was going through a lot watching his brother go through so much. How do you hide that from a 4-year-old who is very curious about everything? I couldn’t. I also didn’t try to explain everything to him — I just let him ask questions and we would try our best to answer and make him feel better.

So now we travel to Cincinnati Children’s Hospital, which is about five hours from where we are to see Neurology there. We LOVE THEM! Wyatt has PT and OT, and now they added a developmentalist. Wyatt is weaning from a med right now that they believe has caused some of his delays. They are having him wear hand splits to help spread out his fingers and make more room for him to use this thumbs.

Ophthalmology found a tumor on his retina, and during his check up they said he was near sighted. He is a strong little guy! And smiles all day everyday! He just started sitting about two or three weeks ago all on his own and strong! He will be 9 months old on May 21. He is my WARRIOR! And JJ is my sidekick! Its hard going through all of this everyday.

I cry, I get sad, I get mad. But at the end of the day, I always smile because I have both my boys at home with me. My husband and I live for the nice days to take the boys outside with our dogs and let them be in the fresh air!

What a journey it has been and looks to be.

I just want to know Wyatt will be ok. And I feel that no parent should ever have to ask or worry about that.

I wouldn’t change her for anything.

Second Annual “Blogging for TSC Awareness Month” Day 14

by guest blogger Amy Dublinske   (Kansas City, Missouri)

Every Mom dreams of having their first born daughter.  They dream of their first steps, first birthday, first kiss, first prom, first love, and their wedding day.  Pregnancy is an exciting time.   The anticipation, planning, preparing the room, sonograms, baby showers, and the much anticipated birth.  NO ONE EVER dreams of fetal stress tests, rhabdomyomas, SEGA tumors, brain MRI’s, seizures, open heart surgeries, testing, treatments, or brain surgeries. NO ONE DOES.  To say that “hearing the words “Tuberous Sclerosis” uttered for the first time is a not a dream but a nightmare,” would be a gross understatement.  My story begins at 34 weeks of pregnancy with my first born daughter, Kierstin.

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It was April 2nd, 2005 when I walked into a Level Two Sonogram feeling “On Top of the World.”  I left feeling an overwhelming amount of fear, stress, and pain.  An indescribable, immense fear that I have never encountered before or again since that day.  Before I knew it, we were being rushed to Children’s Mercy Hospital for further evaluation by the Chief Cardiologist.  Though his English was broken, the one thing that was abundantly clear in any language was his words “we hope it is not Tuberous Sclerosis.  This is a very grim diagnosis.”  The next four weeks are a complete blur as we tried to live in a state of denial, but reality set in very quickly.   Kierstin was born on 05/05/05.  She was induced with the anticipation of open heart surgery given large rhabdomyoma tumor growth.   Though her heart was more stable than initially expected, we quickly received the dreaded diagnosis of TUBEROUS SCLEROSIS.  All of her organs were affected at birth.   We were devastated beyond words!

blog1When researching TSC and talking with other families, I remember hearing things such as “most children don’t have SEGA tumors, most children do not have eye involvement or kidney involvement at birth, etc.   We learned that Kierstin had two SEGA tumors, she had eye lesions at birth in both of her eyes and several kidney tumors when she was an infant.  Due to relentless seizures starting at eleven weeks  she had two rounds of brain surgeries.  She has been diagnosed with TSC2 which we believe was a spontaneous genetic mutation.  Once the seizures were controlled, we began battling the developmental delays and behavioral issues associated with TSC.  Life with TSC has most definitely been a roller coaster ride with many unexpected twists and turns.   If I had a dollar for every time someone has said to me “You are such a strong person, this must be why you were chosen  to be Kierstin’s mom.”  Being strong is the ONLY option.  We refuse to allow TSC to define our daughter, but sometimes the twists and turns of this roller coaster are more than even the strongest person can handle!!

Parenting a child with special needs had been the most difficult challenge of our lives, while at the same time quite possibly the most rewarding aspect of blogparenting.  Some days I become frustrated that I have a nine-year-old who still puts toys into her mouth, cannot bathe herself or cannot button and zip her own jeans.  But that level of frustration is not even comparable to the amount of pride I felt the first time I heard her say the Pledge of Allegiance, sing the National Anthem or score her first goal in soccer.  Still to this day, listening to Kierstin read me a story brings on the “Ugly Cry.”  We were told by doctors that she would never walk, talk, run, or sing.  How can she possibly be reading me a Chapter Book? She is without a doubt a true miracle and we thank God each day for choosing us to be her parents.  No one chooses TSC! No one wants their children to be born with medical and developmental challenges! But at the same time, as much as I loathe TSC and the challenges we face because of it, I feel blessed because of the positives.  I have met some of the most wonderful people through the TS Alliance staff, physicians, parents battling TSC themselves, teachers, therapists who have given so much to our family and mostly to Kierstin.  I have poured my heart out and gained commitments from senators and representatives who have become invested in TSC because of our advocacy.  I have provided much support to new families who are walking down the same scary, terrifying path that I did only nine years ago.  Because of TSC, I am the co-founder of the Tuberous Sclerosis Alliance of Greater Kansas City.  We have raised nearly $200,000 collectively in the past eight years through walkathons, golf tournaments, and  other fundraising events.   I have discovered patience within me that I never knew existed.  I have learned the true meaning of “paying it forward” after so much love and kindness has been shown to us because of TSC.  Though my dreams of having my first born daughter are much different than today’s reality, I wouldn’t change her for anything.  This journey with TSC is not quite the journey of my dreams.  Though Kierstin is the daughter I have always dreamed of and I couldn’t be more blessed!!  We Will Give Everything!  But Up!!

Every Child Gets One Free Seizure in Life

Second Annual “Blogging for TSC Awareness Month” Day 8

by guest blogger Jordan Martin  (Brunswick, Georgia)

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Growing up all I ever wanted was to be a wife and mother.  I always wanted to have 4 kids — 2 boys and 2 girls.  I met my husband Thomas (T.C.) when I was 18.  We have been together for 10 years and married for 7 years.  We have 3 amazing boys: Conner 6, Preston 4 and Aiden 18 months.

Conner Thomas Martin was born on what at that time was the luckiest day of the year July 7, 2007. People to this day when they hear his birthday their first reaction is, “Wow, what a lucky boy!”   I always think to myself, “If you only knew what he has been through”.  To this day I still don’t remember what he looked like the first time I saw him.  I was put under for a cesarean.  Never have done drugs in my life or had ever been in the hospital.  So when T.C. showed him to me for the first time all I remember seeing is a head full of black hair and then passing back out.  I know a lot of parents say this but Conner was seriously the best baby. He was never fussy; he loved to sleep.  He did have acid reflux, but other than that he was perfect.  At around a month old I was sitting on our couch burping Conner and my watch pinched him.  He cried but I checked and didn’t see a mark.  A few hours later when T.C. got home he was changing him and noticed a mark on his lower back.  I assumed it was from my watch and told him what happened. “No Big Deal!!!”

A few weeks later Conner had a check-up and the mark was still there but bigger and risen above the skin.  He also had a red mark on his stomach of a different shape but also red and risen above the skin.  The pediatrician assured us they were “hemangioma.”  Nothing to worry about and would shrink as he gets older.  Well he was right about one red mark.

Conner hit all his milestones right on time.  He was the easiest going little boy.  Never sick, never met a stranger he didn’t know, loved to play outside but was also content being by himself in his room playing.  He was just full of life.  In 2009 we had our second son Preston Robert Martin.  He was born exactly 2 years 2 weeks apart from Conner.  He was by far not the best baby.  He was miserable.   Teething but couldn’t cut teeth.  I tell him all the time “I would never re-do you as a baby again.”  Conner loved having a little brother and being able to teach him things.  That is until Preston learned how to crawl and take his toys.  Life was “normal” as could be.  I hate that word “normal”!!!!

Our story begins on September 19, 2010 at 12:15 p.m. Conner was  3 years old.  It was a rainy Sunday afternoon.  The boys woke up at their normal time, considering the night before Conner woke up at 2:45 a.m. throwing up and Preston was up and down cause at this point all his teeth were coming in at the same time.  T.C. was still asleep.   He worked at a mill at the time working 12-14 hour days so on the weekends I let him sleep in.  At 12:00 p.m. I rocked Preston to sleep and asked my mom to watch Conner for me while I did so.

At 12:10 p.m. I laid Preston down and asked my mom where Conner was. She said he was in my room watching Tom and Jerry.  I went into my room and asked Conner to go to the bathroom so we could lie down and take a nap.  I kept calling his name and asking him to get up but he just laid there.  I assumed he was just caught up in the cartoon.  I went and stood in front of the TV and asked him again but NOTHING!!!  I turned around to turn the TV off and when I turned back around his face was turning red and his eyes — it was like there was no life in them.  I said, “Conner what’s wrong with your face!?!”  T.C. immediately jumped up from out of bed and picked him up.  Mind you neither one of us had ever seen a seizure before.  I went into the next room and got my mom.  By time I was back in the room he was foaming at the mouth, had peed himself and was convulsing.  T.C. handed Conner to me and told me to get in the car.  He threw on a shirt pants and didn’t even bother to find his shoes.

We live right down the road from the hospital.  We pulled up so fast they must have seen us coming because they came running out to get him.  They were asking all kinds of questions.  I couldn’t process anything.  Conner couldn’t talk for 4 hours.  He was completely out of it.  Once he was stable and coherent they moved us to a room for overnight observation.  They ran tests and did scans.  The next day the doctor came in and said everything came back “normal.”  It was just a spiked fever that caused the seizure.  I looked at him with my husband, Conner’s grandparents in the room with us and said, “My son doesn’t spike fevers”!  I can count on one hand how many times he has ever been sick.”  I just knew it was something more.  The doctor looked at me and said “Every child gets one free seizure in life.”  I’ve never wanted to punch someone in the face so bad before.

By time we were discharged it was too late to call his pediatrician so the next day I called and scheduled an appointment.  It would be Friday at 3:30 before they would be able to see him.  Tuesday he was fine and back to normal.  Wednesday at 3:00 p.m I was sitting on the couch and Conner called my name.  I said, “yes baby, come here”.  He didn’t answer.  I immediately got this sick feeling in my stomach.  He called me again and when he came over to me he was staring off and his eyes were twitching a little.  It only lasted about a minute.  I thought maybe he was just tired.  I had never heard of staring seizures or any other types besides grand mal.  Oh I learned fast!!!

I told my mom and I think she thought I was being paranoid.  Thursday same exact time, same exact thing.  Friday while I was getting Preston to take Conner to his appointment, he did it again but this time my mom saw it.  His pediatrician informed me they were staring seizures and she was setting us up to see a pediatric neurologist in Savannah and that she was also ordering him to have an EEG done.

Appointments were finally approved through insurance and Conner had his first EEG done in November 2010.  The neurologist appointment was also coming up, but right before Thanksgiving I received a letter stating they had to reschedule it to the end of December.  By this time Conner’s seizures were worse and every day, sometimes resulting in emergency room visits.  We decided after we came back from Thanksgiving in Florida we would go to the hospital in Savannah and pray they would see him or anything.

While in Florida I received a call from the hospital about his EEG results.  Even though Conner was awake it showed abnormal study due to the presence of spike and sharp wave activities in the right hemisphere, which would be consistent with a few focal seizure disorder.  A few days later there we were walking into the emergency room in Savannah.  The lady at the front desk just looked at me like I was crazy when I was explaining what we were doing there. We weren’t leaving any other way.  Conner, being the helpful child he is, decided to speed the process a long faster and started having a seizure.  We noticed that anytime Conner gets nervous, scared, surprised, overly excited or any loud noises tend to make him have seizures.  She immediately called and they came and took us to the back by time we were in a room he had stopped seizing.  We told the on-call doctor what was going on so he said to give him a minute.  An hour later he came back and told us he called the neurologist office and they would see us in 30 minutes.

Dr. Mortez was the neurologist.  She was really nice and we explained everything that had been going on.  She said she was ordering an MRI and requesting all of Conner’s labs, test results and scans done the day he first seized.  Along with those she also wanted the results of his EEG.  She prescribed him Trileptal and would see us back in 2 months.  If only it was that simple.  Conner’s seizure got worse even with the medication and by the time 2 months rolled around we still hadn’t had the MRI.  She increased his medication and said she would call about the MRI.  By now ADHD and aggression had set in and his hostility was always towards his brother and me.  Still is to this day.  T.C. ended up calling our insurance company up and having a few choice words with them because they still hadn’t approved his MRI.  Needless to say a few days I received a call from the doctor’s office with an appointment scheduled.  February 17, 2011 he would have his first MRI done but not his last.

February 18, 2011 T.C. was sick so my parents, Preston, Conner and I all went to Savannah to receive the results from the MRI.  I was honestly expecting for it to be a simple case of epilepsy. BOY WAS I WRONG!!!  My dad stayed in the waiting room with Preston letting him play with the toys.  My mom went in the back with Conner and me.  In walks Dr. Mortez and from then on it was like an out of body experience.  “The MRI didn’t turn out how I was expecting it too.  It’s more serious than what I was hoping for.” She says.  My mom later on told me I turned ghostly white when she said that.  She then explained that Conner had Tuberous Sclerosis.  Something I could barely pronounce, let alone spell.  She explained how his body produces tubers/tumor like growths on his major organs.  Now we were being referred to MCG in Augusta, now Georgia Regents Medical Center, to the epilepsy department.  She assured me it was a good hospital and that they have lots of experience with the disease.  She also explained how the spot on his lower back was a “shagreen patch” not “hemangioma” and how the spot on his face that popped up over the holidays was a “focal angiofibroma” and not a mole like I thought.  My mom took Conner out of the room by then so I could talk more with the doctor.  He would now need to have kidney and heart ultrasounds and have his eyes checked as well.  Soon I was left alone in the room.  Not wanting to cry or get upset; just wanting to reach my husband.  All I could hear were the words tubers/tumor like, more doctors, brain surgery, etc going in circles in my head.  This isn’t going away!!!

When we arrived at home I tried explaining it as best as I could to T.C.  I still hadn’t cried.  I couldn’t let myself.  I honestly don’t remember anything after that besides putting the boys to bed.  When I got in bed I completely feel apart.  T.C. just held me. All I could do was cry.  I didn’t understand how this happened.  How my perfectly healthy child could have been born with this and no one knew it.  How could he just start having seizures out of the blue?  It made no sense.  I was pissed, sad, so many emotions rolled into one.

The next day I just spent lying in bed depressed really.  I couldn’t process all of it.  I needed a day to collect myself.  I was numb to be honest.  So my parents took care of the boys that day and my mom took all the phone calls from family members explaining what was going on.  I definitely went through the seven stages of grief.  I think my husband was stuck in anger and denial for a while.  You mourn the life you had and accept this is your new life.  The next day was filled with phone calls to the cardiologist office, setting up kidney ultrasound and eye appointments.  I had one doctor tell me they had only read a paragraph about it med school.

Dr. Mortez told me that if after two weeks if Conner was still getting worse after the last increase of Trileptal, to call and let her know.  Of course his seizures were still increasing and he ended up in the hospital again.  I called her the next day and left a message.  I was surprised when she called back within a few hours and informed us she called Augusta and they were moving his appointment up and we would be getting a call from them to set up an appointment.  She said since his medication hadn’t been working at all he needs to be monitored soon as possible.  Good news was his eyes didn’t have any tumors.  His heart had two small ones but they weren’t causing any damage so they just need to be monitored.

2014-04-059518.25.55A few weeks later we were in Augusta for Conner’s three-day EEG monitoring.  Dr. Park is head of the epilepsy department in Augusta and Dr. Strickland is the neurologist there.  They are Conner’s doctors still to this day.  Conner was monitored for three days.  His seizures were mild and very little — not what we were expecting, which was unusual for him, until the last morning when he had 10 seizures within a 30 minute time frame.  The doctors came in a little later for rounds and said, “That was good we got everything we needed.”  They were a little too excited about all the seizures at the time I thought.  But I understand now.  They said it’s amazing you are able to press the button right before he starts seizing. I said is that good?  They said, Yes. it means we got everything from the very beginning of his seizures to the ictals.”  They asked how we knew before they started.  I told them how sometimes Conner knows before he is going to have one and he will come find someone, and sometimes he also gets this look on his face right before he starts seizing.  I also explained how I can feel it in my stomach right before as well; it doesn’t matter if Conner is in a different room. I get this sick feeling in my stomach.  It sounds crazy.

They informed us of all the testing coming up to see if he was a candidate for surgery.  They also told us Conner’s was a “spontaneous mutation” in his gene while I was pregnant.  We also found out that the doctor in Brunswick who said all his scans came back “normal” read them wrong.  It clearly states there were “abnormal” findings in his frontal lube.  I thought I was going to lose it.

The next few months we spent traveling back and forth.  By then Conner was on Lamictal as well as Trileptal.  It was hard financially on us but we managed with the help of family and friends.  Conner was being tested to see if he was a good candidate for surgery.  Turns out his seizures came from both right and left frontal lubes more so from the right.  Soon he was on Keppra, Lamictal had been increased and taken off Trileptal.  We also had to add Clonidine because his ADHD was so bad he couldn’t sleep but three hours at a time most nights.  He was also becoming more aggressive and having more meltdowns.  At this point even my parents couldn’t handle him bouncing off the walls and acting violent towards everyone.  I felt trapped in my own home with no help.  T.C. worked full time so I could stay home with the kids.  I literally felt like I was abandoned by everyone.

Conner didn’t understand why all of the sudden he wasn’t allowed to go anywhere.  Places he has been to his whole life; it wasn’t fair.  One day I lost it!  Conner was having a bad day — just one meltdown after the other.  I ended up locking myself and Preston in the bathroom just to get away from him and the constant hitting, kicking, screaming, etc.  I called my mom and my best friend’s mom, who is Conner’s other grandmother and just started yelling about how I felt like everyone abandoned him and me and how this disease was taking over my life it felt like.  I needed them to stop worrying about how they felt or were scared of what might happen and think about what he feels and how confused he is.  He would say, “Mama, I’ll try to be good. Trust me.”   “I won’t hit Preston or scream or anything.”  It broke my heart every time, but after the talk with all the grandparents, they understood and began spending more time with him and Preston and were there for me too.

Summer of 2011 came and Conner turned 4.  He would be starting Pre-K soon which scared me to death because he was still seizing every day.  He was now also having them every night so he started sleeping with me and TC slept on the couch.  A few days after his birthday we had an appointment with the neurosurgeon.   My husband, my Dad, Conner and I  drove up to Augusta the night before since it was an early appointment.   The appointment the next morning consisted of the doctor going over the pros and cons of Conner having brain surgery for his seizures since the medication still wasn’t working.  His opinion was that Conner’s best option was to have the surgery.  So, we decided to go ahead with the surgery.   After that TC broke down, but I stayed calm for him and Conner. I’m the level-headed one when everyone else gets upset.

The surgery was scheduled for October of 2011. Since Conner would have only been in school a short time, the doctor suggested he not start since recovery 2014-04-059518.29.42time could be long.  So we withdrew him from school registration.  He had been so looking forward to going. He saw some of the pictures his friends had posted on Face book of their first day of school.  I hated seeing him upset so I put on his Thomas the Train book bag, stood him in front of the door and took his picture.

September 19, 2011 was exactly one year since Conner’s first seizure.  My parents had the boys for the night.  I was lying in bed, waiting on TC to get home from work and I couldn’t sleep.  I was thinking about the day Conner’s seizures started. Everything just hit me all at once: the past year, all the appointments and medications, seizures and the tests his little body had to endure …and now Brain Surgery!  It just wasn’t FAIR! By the time TC got home I had been crying for an hour.  I had tried to hold all my frustration and feelings in for so long that I felt like a dam had burst inside of me.  It all came pouring out.

The next night Conner had 20 seizures in one hour and I thought this would never stop!!!  The next day Conner didn’t have any seizures or the next day or the next.  Four weeks later…still no seizures.  Everyone was so happy!  Of course I, being prepared for the worst to happen, couldn’t allow myself to be excited.

Conner’s surgery day was fast approaching.   My husband wasn’t feeling comfortable with Conner having the operation since the medication seemed to be working now. We talked it over again and decided to cancel the surgery.  The holidays came and went. Conner was still seizure free although his aggression and his impulse control were still big issues we still had to deal with.     2012 was a good year!  We had an unexpected surprise….we were expecting again.  Conner had, maybe, three seizures that year.  He had no new tumors in his brain, heart, kidneys or eyes.  He got to start Pre-K and loved going to school.  Conner and Preston loved having a new baby brother.  It was just a great year.

March 2013 and it’s time for Conner’s yearly checkups.   Kidneys are first.  By now TC and I know what to look for on an ultrasound. We immediately saw the tumor on his right kidney. It’s not very big, but still, it wasn’t there last year.  So now we go to Augusta to see Dr. Ortiz, Conner’s nephrologist, every three months for blood work and every six months for ultrasounds to monitor any new growth.  At least his heart and eyes are still doing well.              School ended and what we planned to be a fun, enjoyable summer was instead filled with stress and sadness.  My Nana, who was living with us, was diagnosed with stage four lung cancer.  Our days were spent with over fifty people (Hospice, relatives and friends) coming and going from our home.  Ten people were actually living 24/7 on air mattresses throughout the house.  Conner’s anxiety and stress level kicked in as did his seizures.  The boys were very close to their Nana.   Summer came and went and Nana passed away.

School started again.  Conner started Kindergarten and Pres started Pre-K.  Two boys in school!  Yes! Even though I had given Conner’s new teachers and school information on his disease, I don’t think they were prepared for the first day. His anxiety was through the roof, he was having a major meltdown, just a really bad day.  But the next day he did really good and had a good day.

Conner is doing really well in school this year (2013-2014 school year).  His anxiety level is up and down. The amount of sleep he gets affects what kind of day he will have.  He still wakes up two to three times a night most nights so the next day is guaranteed meltdowns, staring seizures, and being emotional.                                                                                                                                  Right now Conner is just like any other six year old little boy.  He does get tired a little more easily due to medication.  He is now on Lamictal, Keppra, Topramax for seizures; Clonidine, Melatonin, to help him sleep and Lisinopril for his kidneys.

Conner understands as much as much as a 6-year-old can, that he has a condition called TSC.  We never treat him any different or any more special than his brothers.  As much as this is about Conner and our journey with TSC, it’s about Conner’s brother Preston too.  He is Conner’s rock.  They may fight and argue nonstop and are like night and day but Preston is always there, and always has been to make sure his brother is ok.  Preston understands that Conner has lots of doctors and he has seen everything his big brother has went through. He would sit next to Conner for two hours when Conner fell asleep after a bad seizure. Preston always made sure that when Conner woke up he had his favorite bunny, his Sippy cup and whatever toy he had sitting next to him so they could play together.

It scares me to death to think of Conner as an adult, letting him grow up and be in charge, or have a say in his healthcare.  I know it isn’t anytime soon but I will have to learn to let go and he will be ok.  He is the strongest little boy I know. I am no longer bitter or angry that he has TSC.  I’m trying to embrace Conner for his differences and his sometimes extreme passion and stubbornness.  He gets that honest.  I don’t worry what people think about him or us if he has a “meltdown” in public.   What is deemed “normal” nowadays any way?  People judge what they don’t know or understand. Some days are better than others and sometimes you feel like you have been defeated but at the end of the day it will be over and something better will happen.

This is our TSC story.  It is nowhere near over; it’s really just begun.  Sometimes it feels like a lifetime ago when we tell stories about Conner or life before TSC.  It’s like a different family.  If anything, I want to teach my kids that a disease does not define you as a person or give you an excuse to do wrong.  It makes you a stronger person and can bring a family closer together.  It makes you love and appreciate one another more and treasure every moment you have together.

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