Tag Archives: guest bloggers

From Reflux to TSC

Second Annual “Blogging for TSC Awareness Month” Day 20

by guest blogger Melissa Marino  (New Orleans, Louisiana)

photo-4-1Our story began in November of 2012 when we found out that we were expecting our first child.  My entire pregnancy was a breeze, no morning sickness and no complications.  Every ultrasound was absolutely perfect and we could not wait for our bundle of joy to arrive.  Carter was born on July 11, 2013 weighing 6 pounds and 13 ounces.  He was the most beautiful thing that I ever laid eyes on, with his perfect bald head and big chubby cheeks.  The first two months were great and he was the happiest, most laid back little boy in the world.  In September, shortly after turning 2 months, I began to notice that something was not right with him.  He would squint his eyes and his right arm would raise into the air.  This happened in clusters several times a day.  I immediately took him to the pediatrician and she referred me to see a neurologist at our local hospital.  I called that day to schedule an appointment, explaining to them that I believe my two month old is having some sort of seizures.  I was given an appointment four weeks away.  Seriously??  I am telling you that my baby is having seizures and you politely say that you can fit him into the schedule in four weeks???  I was devastated, so I started doing research using google and the more I read, the more anxious I got.

After about a week of him having these episodes, I finally had enough so we headed to the emergency room.  The first thing they told me was not to worry, it is probably just reflux.  I was not settling for that answer, so I demanded that they watch the videos and check him out anyway.  Finally they ordered an EEG, and sure enough the EEG showed that he was indeed having seizures along with an abnormal heart rhythm.  That evening, cardiology came in and told me that Carter has Wolff Parkinson White Syndrome. After a couple days in the hospital, they finally took him down for an MRI.  The next morning, the results were in and his MRI was normal.  The doctor explained that since they could not find a cause for his seizures, there would be a good chance he would grow out of them.  Carter was started on Phenobarbital, which did not work.  We were sent home on Keppra and Topamax, but the episodes continued.  We went to our cardiology consult where they did an echo of his heart and everything came back fine.  The WPW wasn’t causing any photo-3-1symptoms and his heart structure was perfect.  I took him back and forth to the hospital for constant EEGs and everyday his seizures were only getting worse.  Come October, we were back in the ER.  The weird arm movements finally stopped, but now he was having full tonic clonic seizures.  I just could not understand what was happening to my baby.  His blood work was always normal and his MRI was normal, so again they had no answers for me.  I finally agreed to let them do a lumbar puncture on him — at this point we were reaching for any answers.  Yet again, another normal test result came back.  His tonic clonic seizures continued to increase every day and Vimpat was added, which of course failed.  They finally decided to give him high dose steroids through his IV.  He would get a couple rounds of Solumedrol and we would take him home on a Prednisone taper.  This combination would decrease his seizures by about 80%, but they would always return within two months.

He was developing and reaching his milestones through all of this, but at a much slower pace than normal.  No matter how hard things got, Carter always kept a smile on his face.  After failing all these medications, Carter was started on the Ketogenic Diet. Unfortunately, by the third day of the Ketogenic Diet, his seizures had tripled.  He was having 40-50 tonic clonic seizures a day, so they immediately discontinued the diet.  Onfi was now added on top of everything else.  With every failed medication, my heart broke even more and I finally started to lose hope.  So much for him outgrowing these seizures right?  The neurologist decided it was time to do a genetic test, but she explained that she really did not expect to find anything.  She just wanted to check everything before putting him through a muscle biopsy.  She explained that they were looking for Epileptic Encephalopathies, but Carter did not seem to have any of them.  Those six weeks were the longest weeks of my entire life.  While we were waiting for the results to come back, Carter again developed a new type of seizure.  The tonic clonic seizures had pretty much disappeared thanks to the Onfi, but along came the head drops and spasms.  So now Banzel was added to his long list of medications.

photo-180In March of 2014, he was 8 months old and we finally received a diagnosis of Tuberous Sclerosis.  My heart was shattered; I was confused and angry.  How could six months go by and not a single person figure this out?!?!  Well here is the reason, his heart is normal and as of now, his MRI is normal.  He has no signs of TSC except the horrible seizures that do not respond to medication.  He has had two scans of his kidneys, which both came back normal.  Since he was a little older and we now had a diagnosis, another MRI was ordered.  The results came back within a couple days and we were once again normal.   Just recently, he started to develop white spots on his skin.  Anyways, back to the dreadful journey.  So now at this point, he is on seven medications including 250mg of Sabril that he just started.  The head drops are getting worse, the spasms are increasing and my happy baby is now miserable all the time.  So again, I take him back to the emergency room and they give him IV Solumedrol to slow the seizures down.  The steroids always seemed to be a miracle drug, but it did not work for these new seizures.  The seizures were getting worse, his entire personality was gone and all we could do was cry together.  I asked on several occasions if he was having Infantile Spasms, but I was quickly assured that it was not IS.  I went back and forth between doctors and the insurance company trying to get him out of state to a TS clinic.  My everyday life consisted of waking up and arguing with someone all day, which only added to the stress of taking care of a very sick baby.

The reason why I decided to tell our story is because I want to pay it forward.  Only four weeks into his diagnosis, I decided to reach out and ask for help through a support group on Facebook.   I knew he needed to be at a TS clinic and I was fighting everyday to save my baby, but I was also losing hope at the same time.  I wanted to know what was so different about a TS clinic?  Can they really help him?  If he had already tried every medication and failed the ketogenic diet, what else could they do?  A very special lady reached out to me and convinced me to get him to Cincinnati right away.  How was I going to do this?  I have been fighting my insurance over a referral for weeks now!  She put in a call for me and within 24 hours, I received the call from Cincinnati.  I could not believe what I was hearing when they told me “Just get him out here and we can handle the referral from here.”   I started a fundraiser and within 24 hours, we raised enough money to cover the very expensive last minute flights.  It could not have happened at a better time because two days later, Carter’s condition took a turn for the worse.  We changed our flights right away and the next day, we were on a plane heading to get my baby the help he needed.  When we arrived, Carter had his first 24 hour VEEG and his medications were changed immediately.  Just when we thought things couldn’t get any worse, we were informed that Carter did in fact have Infantile Spasms.  Being a new TSC mom and having someone keep telling me that it’s not, I eventually started to believe it.  Well at least a part of me did, but my mommy instincts still said that something was not right.  I suddenly felt relieved that someone had an answer and we were finally in the right hands.  All of my hard work, photo-2-1along with the help of some pretty amazing people, had finally paid off.   It has only been two weeks since all of this happened and his seizures are still not fully controlled.  He still has his good days and bad days, but we work together everyday by phone to coordinate his care.  Since being home from Cincinnati,  he has started to smile again and for that alone, we are very thankful.  The point of my story is, sometimes you have to fight for what you believe and stand up for these innocent babies who can’t defend themselves.  Always trust your mommy instincts and follow your heart.  If you feel that something isn’t right with your baby, it probably isn’t.  Through this journey, I have learned that we are not alone and there are still some pretty amazing people in this world willing to help.  Without the support of my friends and family, I would have fallen apart by now.  I have also gained an entire new family over the past six weeks, my TS family, and their encouragement and inspiration is what helps me through the bad days.  It takes 100% of a person’s time to care for these unique babies, but somehow everyone manages to still help each other.

Not knowing what the future will hold for my baby is probably the hardest part of this journey.  I walk on egg shells each day just waiting for the next catastrophe to come along.  Of course, I hope and pray every single day that my Carter will stay strong and fight his way through this.  But there is one thing that I do know, no matter what happens, I can look at myself in the mirror and know that I did everything that I could to help him.  I gave up everything just to spend every moment with him, I struggled to get him the best care available and most of all, I make sure that he knows just how much I love him!

 

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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Thank you to all of you, my “virtual” friends and TSC family.

Second Annual “Blogging for TSC Awareness Month” Day 18

by guest blogger Sarah Burton  (Highland, California)

IMG_3514 (1)Our journey with TSC began on November 3, 2012.  When Jackson was 3 months old, he had his first seizure.  His
eyes rolled back and his body fell limp.  I just remember holding him up and crying to my husband, “What’s wrong with him!”  The pediatrician said it didn’t sound like a seizure and to monitor him at home.  The next afternoon he had another episode, so went immediately went to the ER.  They admitted him right away, and he had four more seizures that night.  He was pumped full of Phenobarb, which quickly controlled them.  After a normal EEG, an MRI was ordered and we were diagnosed with Tuberous Sclerosis Complex.

We experienced all the normal reactions…disbelief, anger, sadness, confusion. Those feelings did not go away for a long time, and some still linger.  After four days in the hospital, I came home with Jackson.  I walked into our bedroom, looked at his bassinette, his baby calendar, and felt an immediate sense of loss.  I was lingering in this dark fog between life before the diagnosis and life after the diagnosis.  Nothing of Jackson’s looked real or familiar.
It was a horrible feeling.

As I was attempting to deal with this news, I was comforted by my amazing family and friends.  Everyone wanted to help, to reach out, and to be there for us in any way they could. But it wasn’t enough.  No one would ever begin to know what I was going through, what I was feeling.  Our lives were forever changed overnight, and I needed to find a way to cope.  I needed to stop looking at my son and seeing only the disease. I needed to stop looking online where all I seemed to come across was devastating information.  I needed to find someone who understood my pain.

About three months in, I found Inspire.  I starting reading other people’s stories, other people’s struggles with TSC, and it brought me closer to a human photo (6)connection that I desperately needed.  I reached out to a few people, asked some questions, and it felt good.  But it wasn’t enough.  I still felt alone, like all I could think about was the disease, and Jackson’s future.

I had Facebook, but never used it for anything relevant.  I decided to try and search TSC.  And I found Becky and Connor. A mother and her son with TSC (who reminded me so much of my little Jackson).  Her stories of the struggles and triumphs with TSC had a funny, sarcastic twist which brought some much needed humor into my world. It was a reality that I could relate to. That’s what I needed.  I needed someone to walk along side of during this journey, someone who understands.  I had plenty of people in my life who sympathized with me; I needed someone who could empathize.  I continued to search out TSC on Facebook, joined the TS Alliance group, and connected with more and more people.  I found an amazing group of women, viewed pictures of their beautiful families, and read their stories.  I saw the faces behind the disease and finally began to accept that this was our new normal.  Two of the pieces of advice I was given: “do not let TS define your child” and “one day at a time” still guide my daily attitude.

IMG_2320 (1)When my first born Isaac was two years old, running around and getting into everything, I must have expressed exhaustion to my mother.  She said, “Honey, you want your child to be getting into everything, that’s what they are supposed to do.” She then told me about her friend who had a special needs child who was not “getting into things.” I think about that conversation all the time.

Jackson is now 21 months old.  He is mobile, but not walking independently yet.  He can crawl, pull up and cruise really well.  He is finding his balance, so we hope to be walking soon!  We had seizure freedom for seven months, but this past November his infantile spasms came back with a force.  We have tried numerous meds, Prednisone and ACTH, but nothing has worked.  It has taken a toll on his development.  We have a wonderful neurologist at UCLA who we absolutely love!  We will start testing in two weeks to see if Jackson is a candidate for surgery.  But our story does not end here, this is only the beginning. My sweet Jackson.  He gives the best hugs and kisses, and when I smile at him, he smiles back.  That’s all that I could ask, for my son to be happy and to feel loved.

So “thank you” to all of you, my “virtual” friends and TSC family.  You ultimately helped me cope; you are what I needed.  Thank you to my amazing husband Caleb, and my two other beautiful children Isaac and Ava, who help me on a daily basis take the best care of Jackson possible.  We are so fortunate to have a close knit family and circle of friends, who lift us up with their constant outpouring of love and support.  Another TS mom emailed a video that included the following quote. For all of the TSC fighters and their families, for a cure one day…

“Love is just the antidote when nothing else can cure me.”

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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.

Hope. Encourage. Inspire. Never Give Up.

Second Annual “Blogging for TSC Awareness Month” Day 16

by guest blogger Samantha Sinclair  (Maple Shade, New Jersey)

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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.

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!!

Our happily ever after felt as if it was being taken away from us.

Second Annual “Blogging for TSC Awareness Month” Day 13

by guest blogger Heather Lens   (Stilwell, Oklahoma)

Madilyn Rae Lens, was born on October 19th, 2012. She was born a perfectly healthy little girl. She was a dream come true! We had no reason to believe 1234820_4656475948570_2025514539_nthat she would be anything but healthy as she hit milestones in her first 5 months of life.

All of those thoughts changed when at 5 1/2 months old she started doing a weird twitch with her arms. I was feeding her and she kept throwing her arms in the air. My mommy instincts went off immediately. Deep down inside I knew something was wrong. Nothing she was doing looked like a seizure to me, but for some reason my mind kept going back to wondering if it was a seizure. After a day of seeing light twitches I took her to her pediatricians office. Unfortunately, her pediatrician wasn’t there so we had to see another provider there. He told me he didn’t think it was anything other than motor reflexes but he would refer us to a neurologist to calm my fears. I left his office that day full of mixed emotions. I was happy that the doctor said it was probably nothing but still had a gut feeling that he was missing something. I had been around my siblings when they were infants and I didn’t ever remember seeing anything like this. I cried the entire way home at the thought of waiting 2-3 weeks for the referral. How could I wait that long for answers? I called my husband and told him something wasn’t right. He immediately left the fire station and came home. That night I consulted the lovely library of Google. Everything I looked at said the term Infantile Spasms. I was sick after reading information about this catastrophic type of seizures. I knew that this is what she had. I cried and told my husband about it and he agreed we would take her to a children’s hospital first thing in the morning. I didn’t sleep a wink that night. My mind was going in all directions. The  next morning, while I was getting her ready to leave for the hospital, she had one of the most intense episodes. Her eyes started rolling up and she would cry like she was in pain. We loaded up and headed for the hospital which was two hours away. The car was silent the entire way. I was able to catch a few of her twitching episodes on the way to the hospital . We got to the ER and we were immediately admitted after the ER doctor saw a video of the seizure. Still at this point no one was calling it a seizure they were calling them muscle spasms, which gave me a false hope that maybe it was nothing.

558704_10100447182455011_1003519270_nAfter being admitted she was put through a million tests, blood, urine, MRI, EEG, EKG and probably more that I 10307367_10200927489788174_5094866193832748621_ndon’t recall now. After her first EEG it was confirmed that our perfectly healthy little girl was having Infantile Spasms and if we didn’t get them under control immediately it could lead to mental retardation. Those words hit me like a ton of bricks. We were devastated and couldn’t seem to figure out how she could have such an awful type seizure when she had been healthy up until now. After they explained her diagnosis of IS they said they also needed to rule out a rare genetic disorder that can sometimes coexist with IS. They were going to check to see if any of her organs were “marked” with a disease called tuberous sclerosis. I remember being 100% confident that they were wasting their time looking for this rare disease. They already told us she had IS, it couldn’t get worse than that. I recall my mom and husband trying to find information regarding TSC online and I got a little angry at them. I didn’t know why they were wasting their time looking at it because she simply could not have a rare genetic disease along with these seizures. I have no doubt that I was going through denial at that point.

The next day we got the heart wrenching news that she in fact had tumors on her brain and heart. She showed enough signs that she did have TSC. My heart broke into a million pieces that day. At one point I do remember feeling as though life was over. I was terrified of our daughters future. All of the things I had envisioned for my daughter was suddenly ripped out of my hands. We were told that she would be delayed, she may need brain surgery, she may never be able to live an independent life. She may never walk, talk, feed herself. It was all doom and gloom. Our happily ever after felt as if it was being taken away from us.

We left the hospital a few days later and were as well equipped as possible for her new type of care. After two days of taking Sabril her IS disappeared! And 1382781_4821538395028_1044385447_nabout a month of being on Sabril we started to see her personality shine through. Although we still had the fear of this disease. she was showing us signs of hope! We waited and watched her like a hawk, anticipating the next seizure.

Fast forward a year. We haven’t seen a seizure since April 26th 2013. We also have been beyond blessed that all those frightening things we were preparing for have not shown themselves. Madilyn is currently on track with her development and is a month away from starting the weaning process.

The past year has been such a whirlwind. Our emotions have been scattered all over the place. Thankfully we have outstanding family members and community that have helped us move forward with life, and have taken on our cause as well. We have seen an overwhelming amount of support for Madilyn and our family. Without the support and our faith we would be lost. I am so beyond thankful for this past year. She has shown me what it means to have courage and strength. She doesn’t stop fighting for one second, which means I wont stop fighting for her either. She is my little fighter, and my constant reminder of true love.

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Check out Heather’s blog Life with My Princess and her contribution to this blog for 2013’s TSC Awareness Month.

He is happy. He is loved.

Second Annual “Blogging for TSC Awareness Month” Day 12

by guest blogger Shannon Arndt   (Newport, Michigan)

first placeBladen.  For so long Bladen was my imaginary child.  You see I had his named picked out before I even met his father.  As soon as I heard the name, I knew.  This would be the name of my son one day.  I envisioned a strong boy, popular, good-looking and with a pretty awesome name.  Once I met my husband, Russ, we couldn’t wait to have our first child.  We started trying to get pregnant on our wedding night.

My pregnancy had gone pretty smoothly.  I worked, ate and enjoyed telling anyone willing to listen that I hoped to have a boy.  And as luck would have it, we found out we were having a boy!

Around 31 weeks, I had been running around, arrived late to work and just didn’t feel right.  I called my OB and he said to come in.  They couldn’t get a good heartbeat and said I was really dehydrated so off I went to the local hospital.  There they hooked me up to IVs for fluids and I got to see my baby again via ultrasound.  The doctor said everything looked good but wanted me to come back to see a perinatologist.  We made the appointment and two days later Russ and I were at the appointment excited to see our baby again.

I remember joking around, laughing, looking at the pictures.  Clueless to the technician leaving the room, getting the doctor.  The doctor hadn’t said anything, probably because I was talking so much.  And then it happened.

Another doctor walked in and said, “How many tumors are there?”

I couldn’t speak, I looked at my husband and we both just started crying.  We were handed a copy of a page out of a medical book.  Tuberous Sclerosis Complex.  Not only our lives changed that day, but I changed.

Our son had rhabdomyomas in his heart.  Tumors that were growing in his little heart.  For six weeks, I was monitored twice a week by high-level Daddy and Bladenultrasounds.  Waiting, waiting to find the right time.  I spent my time scouring the Internet for any information and crying, mourning, worrying, feeling toxic to my own child.  Timing was key.  We wanted him to grow and not have other complications, but not too long or he’d go into heart failure.  At 37 weeks, it was time.  His heart started developing fluid around his heart, a sign of heart failure.

The next day, with about 20 doctors in the room, I had a 8lb 2 oz, 21 1/2 inch long baby boy.  His heart?  Well, I literally squeezed the fluid out!

At 5 months, he had his first seizure and shortly after, I quit my job.

I’d spend most of my time going to doctor’s appointments, playgroups, play dates, swimming, anything that would help my son.

12 months, he crawled.

16 months, he walked.

He went to OT, PT and eventually speech.

bladen before surgeryHe’s had numerous EEGs, overnight EEGs, MRIs and ultrasounds.

He went to a special needs preschool at 2 1/2.

A month before he turned 5, he was potty trained!

Two weeks after, he also had brain surgery to remove a SEGA brain tumor.

He started mainstream Young5 with a para-pro.

Then was diagnosed with ADHD.

He started mainstream Kindergarten with a para-pro.

Then was diagnosed with anxiety.

He is currently in mainstream 1st grade with a part-time para-pro for his anxiety.

And, he has made honor roll every quarter so far!

He has friends.

He is happy.

He is loved.

We still have bumps in the road.  We are currently watching another SEGA brain tumor; he has MRIs every 6 months to monitor.  He has a lesion in his eye, cyst in his kidney, tumors still in his heart, epilepsy, ADHD, anxiety, speech delay and with Tuberous Sclerosis Complex, the list will grow.
However, he’s been seizure and seizure med free for a year and a half.  He is currently unaffected by the lesions, cyst and tumors in his body – meaning, he is not suffering.
Bladen is a tall, funny, handsome, smart, loving 7-year-old boy.  And just as I imagined before he was born, he is STRONG.
Family walk

You will not let TSC define you.

Second Annual “Blogging for TSC Awareness Month” Day 10

by guest blogger Kaci Kennedy  (Woodward, Iowa)

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I tell myself TSC will not define my child. It will not define who he will become. Who he can become.

Yet fear lingers. It tries to overtake.

It attempts to invade my mind. My husband’s mind.

the moments. Moments when fear overtakes…

was that a seizure. that eye movement. that arm twitch. that look.

It wants to crush all of our hopes and dreams for our little one. It wants to tell us he can not, he will not.

I want to fight. I want to have the strength to fight. To fight for my precious one. To show TSC you have no power.

You, my little one, give me that strength.

You do not know what TSC is. You will not let it define you. You smile. You roll over. You reach out for me to hold you.

You triumph daily. Every moment.

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Please check out Kaci’s blog at http://kaci-jo.blogspot.com

Waiting for a seizure to happen is no way to live.

Second Annual “Blogging for TSC Awareness Month” Day 9

by guest blogger Jamie Perry  (Deltona, Florida)

At the end of August 2011, I found out I was pregnant with my second child. My husband Joe and I had been married for 10 years and decided to have one more child so my 3-year-old daughter would have a sibling as we didn’t want her growing up an only child. I got pregnant quickly and we were thrilled. At the end of 2011 I found out I was having a boy. I had no problems during the pregnancy and the doctors said everything looked good.

image-1My c-section was scheduled April 18, 2012. On that day I had a beautiful 8 lb 3 oz boy and we named him Cayden George Perry. He was the most beautiful little thing and I was immediately smitten. There’s just something about that mother-son bond. I couldn’t keep my eyes off of him. The birth went smoothly and ,other than a weird red mark on his forehead, he was perfect. My husband and I asked several doctors about the red mark on his head and they would always tell us it was trauma from when he was inside of my stomach or it was a birthmark or it was a bruise. No one actually seemed to know what it was. No one seemed concerned either. Aside from the red mark on his head, he had several large white patches on his legs and arms. And again, we were told they were birthmarks.

After we got out of the hospital, we saw our regular pediatrician. We again asked about his white spots and red mark. We were told the exact same thing. Everyone felt comfortable guessing but no one could give us a definite answer. They said he was fine and we shouldn’t be worried. At 4 ½ months we figured out exactly what those ‘birthmarks’ were. As a mom, I notice everything. I noticed when I would cuddle Cayden sometimes, his body would stiffen up and he would scream out as if he were in pain. I called the pediatrician several times over the course of a week and each time I’d call, they’d tell me it was likely teething, give him Tylenol and that they didn’t feel it was necessary to see him. I told them I saw no bumps in his mouth but they insisted he was fine and I was overreacting.

After a week of dealing with this, I was extremely worried. Tylenol wasn’t helping and nobody seemed to believe me when I told them I suspected something was wrong with Cayden. I got the “you worry too much” speech from nearly everyone.  On the Sunday before Labor Day, he started having one of the episodes and I yelled for my husband to please take a closer look at him. I knew it wasn’t normal. “I think he’s having a seizure.” Those words from my husband will stick with me forever. He scooped up Cayden and took off to the ER. I got my daughter ready and we hopped in my car and followed. The ER doctor agreed with my husband that Cayden was definitely having a seizure but he didn’t know why. He was on the phone with a neurologist when the nurse came in to ask about the red mark on Cayden’s head and the white spots. We said we had asked several doctors and were told they were birthmarks. At that time, I was so confused. Why was my son having seizures? What could white spots have to do with it? A few hours later, Cayden was life-flighted to a larger hospital an hour away. The doctor felt the  white spots and the red mark were genetic markers for something called Tuberous Sclerosis, which I had never heard of. I made the mistake of looking it up online. I was terrified of what was going to happen to my little boy.

The next day, they did a full body MRI on him and confirmed the diagnosis of Tuberous Sclerosis. They mentioned a drug called Sabril that they’d order for imagehim and they were confident it would be helpful in stopping the seizures. He spent 10 days in the hospital and while the seizures didn’t come as often, they were still happening multiple times a day. Joe and I made the choice to move his treatment to Cincinnati Children’s Hospital. From our research, this was one of the best hospitals to treat Tuberous Sclerosis. We started there at the beginning of October 2012. Much to our surprise, on our first visit there, Cayden was also diagnosed with polycystic kidney disease. It seems the old hospital, while they did do a full-body MRI, never read the results. We had brought the MRI on disc with us for the new neurologist to review and the nephrologist reviewed it as well because after taking Cayden’s blood pressure and seeing it was through the roof, he suspected PKD. My husband and I were devastated. We were just getting over the shock of Cayden being diagnosed with Tuberous Sclerosis and now this??!!! It was just so much to process. They put him on blood pressure medicine and the neurologist made some changes to the dosage of his Sabril. Even at the max dose, Cayden’s seizures still continued. And from that point, they continued another four months until a miracle happened. For four months multiple meds were tried. Nothing seemed to help my son. Watching your son have multiple seizures daily is simply heartbreaking. I sunk into a depression and I dimage-2idn’t think I could pull out of it. I shut everyone out of my life. I was devastated that nobody could seemingly help my son. In January 2013, we discussed Afinitor. The doctor decided to take him off of Onfi (as the side effects were too harsh for Cayden). We began to wean Cayden off Onfi  and we were to start a medicine called Dilantin while waiting to get approved for Afinitor.  After three days on Dilantin, something changed with Cayden. When we woke up on a Sunday morning we heard Cayden in his crib moving around and making noises. I was baffled when I walked into his room. He smiled at me! Then he laughed! And then, of course, I cried! I hadn’t seen that beautiful smile in five months. He was so happy and I can’t describe the feeling I felt seeing him smile. I felt my prayers had been answered.

I felt like for the next few weeks I was waiting for the bottom to fall out. But waiting for a seizure to happen is no way to live. So I tried my hardest to just enjoy the seizure-free time that we got with Cayden. Prior to starting Dilantin, he was set up for brain surgery in April of 2013 at NYU Medical Center. The surgery wasn’t successful and while that was extremely disappointing, I was glad that we at least had Dilantin to help with the seizure control. Cayden just turned 2 April 18th of this year. He’s just learning to crawl and stand, he’s saying a few words and he’s sitting on his own. Six months ago, he was doing none of that. I have such a tough, strong, determined little boy! He is my hero and the absolute love of my life. I am so grateful that God gave me such an amazing child and I feel truly blessed to be his mommy!