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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!!

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

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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We are our version of “picture perfect.”

Second Annual “Blogging for TSC Awareness Month” Day 5

by guest blogger Shannon Grandia  (Riverside, California)

My name is Shannon Grandia and my three children and husband have all been diagnosed with Tuberous Sclerosis Complex.  Rob and I were high school sweethearts with this “picture perfect” ideal of how our life would turn out.  Rob, my husband, had no idea he had the disorder until our first two born began having seizures and were diagnosed with TSC. When Rylee was born she was this perfect, beautiful baby girl and the picture Rob and I had painted for our life seemed to be coming true.   Over her first year of life Rylee was having these abnormal staring spells that her pediatrician was writing off as normal infant behavior.  At 18 months Rylee’s staring spells were lasting minutes instead of seconds and she was now salivating.  This is when her seizures spiraled out of control and she was hospitalized and diagnosed with Tuberous Sclerosis Complex.  At the time we had never heard of the disorder and had no idea what to expect. She had numerous calcifications covering her brain along with one distinct growth, ash leaf spots on her skin and focal seizures. Doctors told us best case scenario is that she did not develop any more growths and she could live a normal life on medication to control her seizures; worst case scenario could ultimately lead to death. Our “picture perfect life” was beginning to unravel.  Because at the time neither Rob nor I exhibited any signs of the disorder we were told that is was a “sporadic mutation” and unlikely any other children we had would have the disorder.  I was about six weeks pregnant at the time of Rylee’s diagnosis, but ultimately lost the baby at 12 weeks.  This put a strong desire in Rob and I to have another child and since we were told it was not genetic, we felt confident that there would be no complications with another child.

Jake was born two and a half years later. At birth he was a happy, thriving baby boy. Doctors told us it was unlikely he would have TSC, but they would monitor him when we brought Rylee in for her appointments.  At a few months old we noticed a couple white spots on his skin, but doctors told us it was a coincidence and he wasn’t showing any other signs of TSC. I am not sure how long we ignored the small staring spells Jake was having, writing them off as normal infant behavior once again but at 11 months old Jake was having a seizure every half hour and had to be admitted to the hospital and was soon diagnosed with Tuberous Sclerosis Complex as well.  He too had the ash leaf spots, three distinct growths in his brain and was having focal and complex partial seizures.  This was devastating news and our “picture perfect” life was crashing in around us.

Two children with TSC was a sign that either Rob or I had the disorder. After genetic testing it was determined that Rob had the TSC1 gene that was passed onto the children, his dad and brother were also tested and found to have the disorder. We did a lot of research and discovered there was a 50% chance of passing the disorder onto a child. A year went by and life was manageable.  Both Rylee and Jake were hitting their developmental milestones, medication was controlling the seizures and it seemed both had a more mild case of TSC. We felt confident that if we had a third child, he or she would be TSC free. We also wanted our kids to know that we loved them so much and we did not want to let TSC guide the decisions for our life.  Looking back this may have been a naïve perspective, yet it gave us Luke, and we would not change that for the world.

We did an amniocentesis with Luke to determine if he had TSC before he was born. Words cannot express the feelings that ran through me when we got the call that our unborn child also had TSC. Because of the diagnosis we did further testing and also knew he had tubers in his heart before he was born.  Luke came into the world three weeks ahead of schedule and spent the first two weeks of life in the NICU monitoring SVT’s of his heart. Luke spent more days in the hospital than out his first year of life. At one point he was having over 80 seizures a day and was close to comatose. He also had chronic pneumonia, RSV twice, asthma and further heart issues. Then at two and a half he was hospitalized for liver and kidney failure along with Pneumonia and the H1N1. This was the closest we came to losing Luke and he spent almost three weeks in the PICU at Loma Linda. This hospitalization also revealed that Luke was aspirating with fluids and he got a GI tube for fluids only.  Was this really my life?

Luke’s complications were some of the most difficult and darkest days. With the focus on Luke, Jake’s behavior began to decline dramatically.  At three years old he was no longer hitting developmental milestones, and was actually beginning to decline.  Behaviorally, Jake was throwing constant tantrums and was extremely aggressive being asked to leave the private preschool we had him in at the time.  Rylee was also having a difficult time during this period.  She was struggling academically, had weight gain from seizure medications and ADHD.  All three of our babies were fighting and I will be forever amazed how their strength brought them and us through those rough days. This was a long ways away from the “picture perfect” life Rob and I had dreamed about.

We have now lived with Tuberous Sclerosis Complex for over 11 years.  Rylee is 13 years old and thriving. She is the least affected and is on the road to leading a long “normal” life.  Rylee still takes medication for seizures and ADHD, and school is not easy.  But Rylee is learning how to be a good student and stay focused.  She is also a good athlete, playing softball for the last 4 1/2 years and now playing club volleyball.  Mostly, Rylee is known for her bright smile, positive attitude, and love of life.  She is an incredible help with her brothers and has a heart of compassion that teaches us daily how to be a better person.  Jake is now 10 years old and has a diagnosis of intellectual delay and autism.  He too still battles seizures, but they are controlled the majority of the time by medication.  He also takes a concoction of medication for behavior.  Jake has recently moved to a severe autism class, in the hopes that we can get better control of his behavior.  The key with Jake is consistency and routine, which is actually good for us all.  He as an ABA, one-on-one aid with him in class and an outside agency now evaluates and helps with intervention weekly. It has been a rough couple years.  Luke is a 1st grader (in a more severe Special Day Class).  He is the healthiest he has been since birth.  We have never been able to get his seizures controlled, but at an average of five a day, he is on the most effective combination of medication so far and has begun the Modified Atkins Diet.  Also, the G-tube and not drinking fluids has kept the Pneumonia away and he has had a nice stretch of staying out of the hospital.  Because of his medical issues, Luke has an LVN that stays with him throughout the day.  Originally, we were told he may never walk, talk, or even live past the first few years of life.  Not only has he defied all the odds, but cognitively is trying to catch up and shocking everyone.  At 7 years old, Luke is saying more words everyday, can now ride a tricycle, can follow routine rules in the classroom and on the playground and makes anyone who comes in contact with him immediately fall in love with those bright, blue eyes and huge grin.

Rob and I take one day at a time and have no idea what the future holds for our children, but it makes for an interesting journey.  We have learned to celebrate the little things in life, trust God has a plan for us and our three children, lean on each other and those around us when we need strength, and see the daily blessings our children give us.  TSC is a horrible disorder, but it does not define who we are. Rob and Rylee are both considered mild, Jake is moderate and Luke is classified as severe.  We pray daily for a cure and that the seizures and complications will miraculously disappear.  But we also are so thankful for our three miracles, the difference they are making in this world and the joy they bring.  You will not meet three happier kids that appreciate life and each other more.  Watching them together is a beautiful thing and they teach us daily how to be better.  Over the years our idea of “picture perfect” has changed and our we are our version of “Picture Perfect.”

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She is not tuberous sclerosis. She is my beautiful daughter Estelle.

Second Annual “Blogging for TSC Awareness Month” Day 1

by guest blogger Jennifer Carpenter (Yellowstone National Park, Wyoming)

me and Estelle HalloweenI remember thinking to myself, “What are you talking about?” as I watched the radiologist point to the small white dots on the ultrasound image of my 25-week-old baby. She was saying something about cardiac rhabdo-something and her heart, and I was really just hearing words but not comprehending anything. Then, about 10 minutes later, a woman came in the room and introduced herself as a genetic counselor and handed me an information pamphlet from 1995, (and this was in 2012). I briefly glanced at it and saw the words “mental retardation” and “tumors”. I sat there dumbfounded while she told me that my unborn baby likely had a genetic disease called Tuberous Sclerosis and would have significant disabilities and may not be able to walk or talk. Again, I thought, “what are you talking about? Are you saying my baby will not be normal?”

I got into my car after the appointment and sat there in stunned silence. I picked up the pamphlet and for some reason started reading about the origins of the disease; how it was discovered and what happened to people that had tuberous sclerosis. “Fits” and “convulsions” and “retardation” were the descriptions used early on by doctors to describe these patients. Many of these poor people ended up in mental institutions. I thought, “Will my daughter have to be placed in a mental institution? How will I be able to take care of her? What will happen to her?” Then my cell phone rang. It was the genetics counselor that I had just spoken with. She told me that she was sorry and that while I could not get a late term abortion in California, that Colorado would allow medical terminations up to 27 weeks, if that was something I wanted to consider. Termination? I had been watching my daughter grow in my belly for nearly 7 months, watching her hands and feet take shape, her face and lips develop. How could I end the life of my daughter after all this time spent together? Had others terminated their babies with this diagnosis? Was that the right thing to do, if she was not going to have any quality of life and be completely mentally and physically disabled? Were the doctors certain that she had tuberous sclerosis? All of these questions were swirling around in my head as I drove the 2 hours home that day. Two weeks later, her diagnosis was confirmed through genetic testing. A spontaneous mutation had occurred during her development. This was to be our reality and I had no idea of what that would mean to my life or to hers.

In the end, I knew that I had to continue the journey with my beloved daughter growing inside of me. I became hell bent on understanding the disease and photo-178learning all that I could about what may happen to her. I threw away the 1995 pamphlet and discovered that there’s much more information and treatment options available today than there were in 1995. Our knowledge about the disease has come a long way in 20 years. (And shame on that genetic counselor that gave me such outdated information; they should be the experts on the latest information out there on genetic disorders, even the rare ones).

On the day she was born, I knew that I was going to fight for her. To be her voice and her advocate. I knew that, while I couldn’t change the fact that she has tuberous sclerosis and there is no cure, I could get her the best medical care possible and be aggressive and proactive with her treatments. I got her into a TSC clinic and I immediately enrolled her in research studies to help learn more about the disease and to help find a cure, (and selfishly, to have more doctors track her development and provide early identification of potential issues). It gave me some sense of control over an uncontrollable diagnosis and an unpredictable future. At least I could take comfort in that.

Today, my daughter is a beautiful, smiling 15 month old toddler. She isn’t yet walking or talking, but we are working on it. She may have significant developmental delays and may require special education and assistance, we just don’t know yet. She still has those cardiac rhabdomyomas, but they are not causing any issues and her eyes and kidneys are clear for now. She does have mild epilepsy, which is well controlled with medication. But these days I just try to focus on the person that she is becoming, rather than the diagnosis that she has. She is not tuberous sclerosis. She is my beautiful daughter Estelle, who laughs and hugs and smiles and just got two new teeth.

Estelle 1 year