Guest Bloggers For TSC Awareness Month, Tuberous Sclerosis

Diagnosed with TSC at age 18.

May 22, 2014 Rebecca Gaunt 1 Comment

Second Annual “Blogging for TSC Awareness Month” Day 22

by guest blogger Vicky Garrett

(Ferryhill, County Durham, North East England)

Vicky and her fiance. — Vicky and her fiance Kevin.

So my journey started later in life for me. It all began in 2005; I was 18 years old and I had just given birth to my wonderful son Leo. During my pregnancy I had suffered with a large amount of kidney infections but I was just given antibiotics and told to go home and rest and that kidney infections were common with pregnancy. However, after I gave birth I found I was still getting very bad pains from my kidneys (the left even more) and so I was sent for an ultrasound scan where the sonographer announced she had found loads of unusual lumps on both of my kidneys and that she sent the results to my GP. She told me he’d be in touch.

A few weeks later my GP sent me for a more detailed Cat scan where they injected a dye into my blood system so they could take a closer look at these ‘lumps.’ The results were again sent to my GP.

My GP didn’t have any idea what they were, so he had the idea to send me to a urologist to see if they had any ideas.

The urologist explained I had around 30-40 lesions on both kidneys, one of them being 11cm x 9cm on my left kidney and he told me it would need operating on ASAP. He said, “If you accidentally knock your kidney and the lesion bleeds you’ll have an hour to get to hospital before you die.” Those were his words. I was totally shocked and didn’t know what to do. He offered me an operation called an embolisation in which they cut off the blood supply to the lesion to see if it will die. He said I’d have the op in the next few months, and in the mean time he sent me to a geneticist.

The first appointment with my geneticist will stay in my mind forever. I was still 18 and had a young baby. My fiancé and mother attended the appointment with me for support.

The geneticist was a lovely man named Dr. Brennan from James Cook Hopsital, Middlesbrough, England. He greeted me with a big smile and sat me down.

Vicky's partial nephrectomy scar. — Vicky’s partial nephrectomy scar.

First he went through a list of all my family members to see if there was any possible link which we didn’t find. Then he went on and explained what he thought these ‘lumps’ were. Being 18, most of it went over my head but I took in what I needed to. He explained that these lumps were called angiomyolypomas which is a common find in the genetic mutation Tuberous Sclerosis Complex. He didn’t explain much about TSC and told me the best thing I could do was to research it myself at home as it is a very complex condition.

Dr Brennan then went on to explain the other symptoms of TSC and told me I’d be going for quite a few scans to check all my other major organs; he also checked my skin for the different TSC skin mutations and I had every single one!

Dr Brennan took blood from me and told me he was sending it off for an extensive search of the TSC gene. He advised these results could take up to two years to come back.

Finally, Dr Brennan advised that he would test my son as there is a 50/50 chance that I could pass down the TSC gene and he advised me at 18 years of age to have no more children as the risk was too great.

I left this appointment with a blank mind and an empty heart. Over the next few weeks I didn’t want to face what had been said to me and I tried to ignore it all, focusing on my little boy.

Sadly, due to a mistake from my urologist I didn’t get my embolisation until a year later. Unfortunately a scan later revealed that the embolisation had failed and I was facing a much bigger operation called a partial nephrectomy in which my new urologist took the large AML and half of my left kidney. It took me six months to recover from this op but the pain in my left kidney was no where near as bad as before.

Not long after my operation I received an appointment to see my geneticist…. The blood results were back after 3.5 years and they couldn’t find my mutated TSC gene. Dr. Brennan advised that I still had the diagnosis of Tuberous Sclerosis Complex and that the gene must be hidden where the technology couldn’t reach but hopefully advances in technology in years to come may eventually find the mutation.

I have since been approached by Cardiff University in Wales because they do a lot of research for TSC and they have found new technology to search further into the DNA. They are taking a closer look at my blood to try and find the mutation gene. My blood has been with them around a year and I have not had any news yet.

Since then I have had a little girl and both children have been tested. Thankfully they are both clear, but myself and my fiancé have decided to have no more children.

I am also currently awaiting another operation as I have a large AML on my right kidney. My urologist is trying to decide whether to try an embolisation or whether to go straight for another partial nephrectomy.

I have a lot of friends on Facebook who have either their own TSC journey or have children with TSC and they are like a family to me. If I ever need support they are there and they know exactly what I am going through and feeling. I have a wonderful fiancé and two gorgeous children. Sadly a lot of my family do not understand what I am going through and some don’t want to admit that I have a condition which will affect the rest of my life.

It has been a very tough nine years and I am still trying to understand TSC. I think I will always be trying through the rest of my life.

Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

My Roller Coaster Life

May 21, 2014 Rebecca Gaunt Leave a comment

Second Annual “Blogging for TSC Awareness Month” Day 21

by guest blogger Paula Krischel (Dwight, Illinois)

Living with Tuberous Sclerosis, and having children with Tuberous Sclerosis, is always a rollercoaster of the unknown. You never know when this disease is going to put a tailspin on our health. The constant stress of dealing with insurance, therapy, school, doctors, sickness, testing — it all gets to you when you only have 24 hours in a day. That is not including everyday work that needs to be done around the house, bills to pay, events to get to, and the list goes on. It is a never ending battle to not show how badly this disease can affect how I feel. The day must go on, and even though I am a stay-at-home mom, a lot is depending on me to make our every day routine run smoothly.

I realize nobody is safe from having symptoms from this disease. That really hit me a couple years ago. I have lived with this disease symptom free for 42 years. The only time there was any symptom was when I had seizures when I was little, but at that time there weren’t MRIs to diagnose Tuberous Sclerosis. I went years thinking I had childhood epilepsy that I outgrew at puberty. As I get older, the hardest part is dealing with the emotional aspects of this disorder. I find my anxiety seems to get higher as I try to learn to juggle my health, my boys’ health, and all the obstacles that come with this disease. My kidneys have taken the biggest hit from this disorder. I have to take a pill for the rest of my life that is considered to be a chemo drug that has all new symptoms that can happen to my health. It is really hard to stay positive when you feel like crap inside. The hardest part is that people think you feel like crap because you’re overweight, which I am, but it really does not come to that. Of course losing weight could help me, but so much with this disease, there is no guarantee that will solve all of my problems. I hear blood pressure, cholesterol, and all that good stuff will be better, but the fact is, my wonderful miracle drug that I have to take for my kidneys cause both of those to be bad. It is a struggle that I am still trying to learn to balance but with the fatigue, lower back pain, and symptoms nobody wants to really hear about, it is a daily problem to try and get better. I now have to take medicines I hate to take, but my family needs me so I take them.

The best part of this disease — it has made my family stronger. NO ONE is not affected by this disease in our family. My son Josh, does not get to always have a normal childhood because his brothers got sick, had a seizure, or are just off from their autism. Most children are privileged to have both parents go to award banquets, sporting events, and school plays. Not our family. Most days we have to take turns going so one parent can stay home for our other two boys that have Tuberous Sclerosis as well. My husband works very hard to take care of our family and to help out as much as possible when I am having bad days. He truly is my rock, my best friend, and my soul mate. He does not judge me; he gives me time to spend with friends and helps as much as he can with the boys. This disorder has put us in many different stressful situations, but with our faith, we always seem to conquer the obstacles one by one.

The most important part I have to remember is to always take a proactive look at my health so I can be there for my boys. Please, to all of you adults out there, be proactive. You never know when you will have a new problem with TS. At one point I was really having bad back pains. I found out my tumors growing in my kidneys were causing the pain. Always listen to what your body is telling you and get things checked out. I had to start Afinitor immediately so I could avoid surgery. To me that is my best option because I still need to take care of my family. I may feel like I am an 80-year-old lady at times, but with my husband by my side, I know I can push through anything. He is my best supporter, along with my 15-year-old son who would give up anything if it meant helping his momma out. I am a very lucky woman, to have such a wonderful family. I also have some amazing friends that get me out of the house when I just need a break from the hustle and bustle of everyday life. It is also wonderful to live in small town America, with a population of 4200 people. Everyone knows our children through school, church, and being out in the community, and I know they have our backs if our children are ever in need. It took me a long time to accept this disorder, but now I am determined to do everything I can to live a long healthy life. It is important to be here for my family.

Another important thing to do as an adult with TS is find some kind of support. I know not every family member can understand how you feel, friends don’t always understand, and people can feel alone. I found solace in getting to really know some wonderful women and men on the Tuberous Sclerosis Facebook pages. NO ONE is affected exactly the same with this disease, but there are enough similarities that you can get ideas to ask your professionals to see if it may help you or your loved ones. These people live our life, they pray for you, give you encouraging advice, and can make the healing process bearable as we fight on for a cure. I feel very rich by the friendships I have made, and I am ready to help those who are just learning about this disease. I will give EVERYTHING, but UP!! I will trust in God, trust my doctors, and trust my family to be by my side as I battle this incurable disease and battle to be the best I can be. Thank you for listening.

Read more about Paula’s family in her guest post for last year’s Blogging for Awareness.

Please also check out her son Josh’s contribution last year from the perspective of teen with an affected mom and siblings.

Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

From Reflux to TSC

May 20, 2014 Rebecca Gaunt 3 Comments

Second Annual “Blogging for TSC Awareness Month” Day 20

by guest blogger Melissa Marino (New Orleans, Louisiana)

Our 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 symptoms 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.

In 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, along 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!

Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

Joy Times Four

May 19, 2014 Rebecca Gaunt Leave a comment

Second Annual “Blogging for TSC Awareness Month” Day 19

by guest blogger Courtney Bailey

May 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 at 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.

Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

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

May 18, 2014 Rebecca Gaunt Leave a comment

Second Annual “Blogging for TSC Awareness Month” Day 18

by guest blogger Sarah Burton (Highland, California)

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 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.

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.”

Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

This Can’t Be.

May 17, 2014 Rebecca Gaunt 1 Comment

Second Annual “Blogging for TSC Awareness Month” Day 17

by guest blogger Kelsey Hudson (Moon, Pennsylvania)

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?

My 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 would 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.

After 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.

Guest Bloggers For TSC Awareness Month, Tuberous Sclerosis

Hope. Encourage. Inspire. Never Give Up.

May 16, 2014 Rebecca Gaunt Leave a comment

Second Annual “Blogging for TSC Awareness Month” Day 16

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

Hi, my name is Samantha. I am from Southern New Jersey and about 23 years old. I was born with Tuberous Sclerosis and have had numerous laser surgeries beginning in adolescence and continuing into adulthood. I have multiple angifibromas on my face (with redness) and a few on other parts of my body, ash leaf spots (no pigment color of my skin in that section), skin tags (until they were removed), and 5-6 AMLs (angimylopomas) in total attached to my kidneys. I also had a large surgery last year in 2013 that removed an AML from my kidney through a process of three surgeries. I first had it embolized, then the AML turned into a tumor-like sack which was drained, and then it came back again and was completely removed. This was my biggest surgery besides the numerous laser surgeries I have had. I had 1300 milliliters removed from my body with that one AML. I felt extremely lucky to have conquered this surgery and move through the recovery process to live a healthy life.

I have had one seizure since I was 3, but prescriptions have helped prevent them from occurring anymore. I am blessed to say I have a mild case of Tuberous Sclerosis because I have not endured countless seizures or other cognitive obstacles. In May 2013, I graduated from Georgian Court University with a Bachelor of Arts in Psychology and am currently finishing up my first year in a Master’s Program for Clinical Mental Health Counseling at Georgian Court. In addition, I am very blessed to have my fiance, Eric, who loves me no matter how easy or difficult the circumstances. We have a lovely life, been together for six years and engaged for about two years. We are excited to be getting married in June 2016.

Overall I cherish many moments of my life because I have been able to live a healthy and happy life. My life encompasses warm memories of competing in sports from high school into college, and the arts such as musicals, drama club, and playing an instrument. I have been involved and held many leadership positions in many organizations and clubs on campus during my four years with Campus Ministry, Student Government Association, and Campus Activities Board, along with assisting many organizations with different events. I also really love to do volunteer work and have currently held two walks at my university over the past few years raising funds and awareness for Tuberous Sclerosis with the help of the TS Alliance. I am a fun, outgoing, understanding, and caring person who believes in living life to the fullest. I enjoy nature and I am always interested in new experiences.

I just joined the TS Alliance Group and even though I have organized a couple walks at my university to raise funds for TSC it’s nice to be apart of a group where you can share your helpful advice and provide support to others. I love learning about people’s stories, triumphs, and overcoming the obstacles. I feel very lucky for what I have accomplished and what I continue to strive to accomplish. For a long time over the years, I felt alone with TSC because I had no connections to others with various experiences to share, connect, and provide support to each other. Although my family and friends were there I wanted to feel connected with people who could truly understand what I was and still am going through. During those walks I organized I heard incredible stories that moved my soul. I admire all those people I heard stories from that were far more difficult than mine and I continue to look up to people who deal with TS on a regular basis and see the light in their journey. There is no light once you hit the end of the tunnel, the key is to look for the light throughout your journey and turn it into a positive. I look forward to being apart of this group, learning and being there for people, and hearing your experiences. I would say having TS has made me stronger and encourages me to live a full life every day. TS pushes me to conquer everything that may seem impossible and achieve my dreams which are endless. TS does not stop us. It does not define who we are; it is only a small part of our whole person. I learned if we never give up on what we believe or want to achieve in life, great things can happen in ways that you may never have thought possible. If anyone ever wants to talk, share stories, needs advice, or support I am here to help.

Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

The Cure

May 15, 2014 Rebecca Gaunt Leave a comment

Second Annual “Blogging for TSC Awareness Month” Day 15

by guest blogger Lisa Cummings

THE CURE

When one day we hear the words,

“We have found the cure!”

A shout will be heard round the world,

Of this you can be assured.

There won’t be any more illness, hospitals or pain,

It will be our miracle, where only joy will reign.

Our children will know playgrounds, instead of hospital beds,

Our children will know restful nights, with peaceful dreams instead.

Our children will know release, from pain they have so bravely endured,

Oh, how our hearts shall rejoice, “When we have found the cure!”

Our children who have never walked, will step to mom or dad,

Our children who have never talked, will say the words we knew they had.

Our children who have behaviors, will know inner peace,

Our children will only know happiness, their daily struggles ceased.

Rare diseases, untreatable, no hope, those words will be obscure,

The shout will be heard round the world,

“When we have found the cure!”

Parenting, Tuberous Sclerosis

Connor started walking!

May 14, 2014 Rebecca Gaunt Leave a comment

I’ve been doing a terrible job of updating on Connor lately. This post on medical marijuana went viral a couple months ago, and then a few weeks ago, this post on Athens, Georgia was even bigger with more than 9k shares just on Facebook and 50k views. So if you have been wondering why I have been mostly absent from the blogosphere, it is because I was attempting to ride the wave of popularity for the rest of eternity. Also because I was being lazy.

Connor’s been doing really well in spite of the fact that we’ve been seeing a few more breakthrough seizures on the modified Atkins diet. He took his first independent steps in the pool at aquatic therapy and about a week later, he was standing at the ottoman and suddenly marched away getting in a good 4-5 steps. I wish I had a recording of my reaction–looking up and rubbing my eyes thinking I was seeing things.

He is doing amazing at putting puzzle pieces in the correct spots and putting objects into containers. He has long had a love of destruction, but lacked any desire whatsoever for reconstruction. I’ve now seen him, in the course of two separate evaluations, doing a most spectacular job of putting things away, leading me to conclude that he has been keeping this skill under wraps so that he won’t have to assist in cleaning his playroom.

He found his music therapist’s wooden train whistle quite enjoyable so my mom bought him one, which led to another milestone of bringing us objects in order to get a desired result. He drops that whistle in our laps and makes us blow it until we are dizzy. He has also started bringing us books and dropping them in our laps, then climbing on the couch next to us to hear them read. He’s awesomely relentless. Yesterday I was dozing off when he dropped Little Blue Truck on my stomach. When I didn’t respond immediately, he plopped it on my face.

It’s so great to watch his cognitive growth. Although he still has no words, he is understanding more and more. We can read books and he will point to objects on the page if we ask. We were working on a puzzle and were missing the lion. I was able to verbally instruct him how to go get it from under a piece of furniture in the room. He’s really into cars and trucks and I’ve noticed that he typically plays with two at a time, always choosing two that are similar in scale, which I find very interesting. I find it positive that he notices differences like that, as if he knows that a Mustang will never be larger than a fire truck! I was excited the other day when he was playing with his wooden hammer to push balls through the hole of the toy and, for the first time, when the ball came back out of the toy, he picked it up and put back on top to repeat the process.

We are dealing with a bit of separation anxiety. He does well when I drop him at Mother’s Morning Out, but phasing me out of the room at music therapy isn’t going so smoothly. Yesterday he had an OT evaluation and I watched through the mirror as he banged on the door to get out and find me. I hope he never notices how boring I actually am.

He’s still eating more pureed food than I would like, but every so often he surprises me by coming over and wanting to eat off my plate. We were late to aquatic therapy once because I was so overjoyed he wanted to share my salmon at lunch one day.

He had a one-hour EEG last week which showed improvement from the last one he had months before we started the diet. Results were still abnormal, which isn’t unusual for TSC. He had spikes coming from a couple of places that have shown activity before, but his left occipital lobe was quiet in contrast to his last EEG. Also, there was no subclinical seizure activity this time around.

Several of the families that worked to try and pass HB 885 here in Georgia have been interviewed for a documentary on the efforts to pass the medical marijuana bill. The filmmakers also recently traveled to Colorado to meet with families that have relocated there to treat their kids. I don’t know if my portion will make the cut, as undoubtedly someone else will voice similar concerns much more eloquently, but I enjoyed the process.

In the meantime, two more Georgia families I met during the legislative session are getting ready to make the move out west to save their kids from unrelenting seizures. The three Georgia families I know that are already there are already experiencing tremendous results. Rep. Allen Peake, champion of HB 885, has started a non-profit called Journey of Hope to help these families get the funds to go. Personally, I hope Sen. Renee Unterman has donated considering she played a pivotal role in killing HB 885 and devastated so many families to tears. I look forward to the 2015 legislative session, though I probably won’t waste much time on my own state senator, Judson Hill, this time around due to this

Since we bought a zoo membership this year, I will leave you with some pics from our two trips so far this season.

Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

I wouldn’t change her for anything.

May 14, 2014 Rebecca Gaunt 1 Comment

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.

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!

When 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 parenting. 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!!

Mixed Up Mommy

Monthly Archives: May 2014

Diagnosed with TSC at age 18.

My Roller Coaster Life

From Reflux to TSC

Joy Times Four

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

This Can’t Be.

Hope. Encourage. Inspire. Never Give Up.

The Cure

Connor started walking!

I wouldn’t change her for anything.

Living in Atlanta, loving travel and watching my son kick tuberous sclerosis complex's butt.