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I didn’t hear anything from that moment on even though I saw the doctor’s mouth moving, except “there is no cure.”

Second Annual “Blogging for TSC Awareness Month” Day 30

by guest blogger Katie Creamer  (Long Beach, California) 

keenan in carTwo and half years ago one of my biggest dreams had come true; I was so happy and extremely proud when my healthy and beautiful baby boy was born.  My husband and I had been waiting and preparing the best we could for this exact moment for a long time and we were finally ready.  My baby was perfect; beautiful, big, had a full head of hair already, had 10 fingers and toes, and alert from the first moment we met.

This being our first baby it took us a while to understand each other’s needs as I recovered from my Cesarian section and immediately started breast feeding, but within a few weeks we were perfectly in sync and in pure bliss.  Being a mom was amazing and I immediately knew why I was put on this earth; to be Keenan’s mommy.  When I look back at those first few weeks, the only clue we had that our life would soon be shocked to the core was a white spot/ birthmark on his knee that our pediatrician had waved off as no big deal.  We quickly began the newborn pattern of the day filled with eating, sleeping, and pooping; we thought everything was perfectly normal.

Where our story is slightly different then a lot of others lies within the next 18 months.  We lived the next 18 months as a normal, healthy, happy new family.  Keenan hit milestones on time and was a constant thrill to watch him cognitively advance and become a little person.  We were doing perfect and beginning to plan for a sibling for Keenan in the future.  Then at 19 months old Keenan spiked his first high fever which caused a “febrile seizure.”  Witnessing that was what I thought would be the scariest moment of my life. We called 911, had our first ambulance ride, and by the time we got to the hospital everything had settled down.  We were told Keenan had just had a febrile seizure which was explained to us as keenan after surgery 1“no big deal” and “some kids are just susceptible to this, but they eventually grow out of it.”  Next time, “just remain calm, then when it stops bring him in afterward”, “they can last up to 15 minutes, but just try to remain calm.”  We were told this is common (we even saw another baby come in after a febrile seizure while we were there), we were told how to avoid fever spikes and seizures in the future with high doses of Advil and Tylenol, and then sent home.  Proud of how my husband and I handled this emergency and what we thought might be our biggest challenge, we went on with our lives.  I researched what I could and tried not to worry too much, till six weeks later when Keenan had another fever.  With this fever I was ready with alarms for meds throughout the night but didn’t need them because I didn’t sleep at all and just watched him through the night like a hawk.  He had made it through the night without a problem so I went to work in the morning and left Keenan in my husband’s capable hands.

I’ll never forget at 10 am when I was finally able to check my cell phone and saw that I had five missed calls from my husband.  Listening to the voicemails confirmed my worst fears, I could hear my husband saying, “it’s ok Keenan, daddy’s here.”  My heart dropped because I knew Keenan was having a seizure.  I called my husband quickly to find out what hospital to meet him at, and to my surprise he hadn’t called 911 yet, now realizing he was following the ER doctors instructions and he was following perfectly, “waiting it out.”  My mama gut came screaming out and told him to call 911, and he did.  When the paramedics had arrived he had been seizing for over 20 minutes and they had to sedate him to stop the seizure.  Looking back, our first mistake was listening to the ER doctor. My son had experienced a status event.

IMG_5124jpgAfter a few hours of my son lying lifelessly in the ER, he started to struggle to open his eyes and make sense of his situation.  Quickly we noticed that he could not move his entire left side or even move his eyes to the left even when I called him.  We were scared to death and a CAT scan was done on his brain right away.  Within 15 min they told us that he had a brain tumor and multiple “lesions” on his brain, and they told us he had something we had never heard of, Tuberous Sclerosis.  I didn’t hear anything from that moment on even though I saw the doctor’s mouth moving, except then I heard “there is no cure.”

We sat in shock for the next two weeks, researching what we could (but the internet scared us to death) and making many specialist doctor appointments.  We heard many grim possibilities, but the scariest we heard was that “how this disease will affect your son can not be predicted” and it’s all about dealing with one symptom at a time as they pop up for the rest of his life.  Keenan also has been diagnosed with polycystic kidney disease, has a “medium burden” of tubers in his brain, one SEGA, and multiple nodules.  We now sit in the unknown trying to cherish every moment because we have no idea what the future will bring.

Coming up on 1 year since Keenan’s diagnosis we have gone through three different anti-seizure meds trying to control his 4-20 seizures a day without any success, we have faced the tremendous life changing decision to make to try brain surgery on our 2 and a half year old son to try to stop the seizures, Keenan has to have MRI’s every 6 months on his brain and abdomen to watch the multiple tumors and cysts on his kidneys, and blood work every 3 months.  Everything and all his tumors have to be monitored to decide when the next major decision has to be made.

Sometimes we feel like we are just waiting for the next bomb to drop, but we have learned so much in this past year.  The major lesson we’ve learned is to prepare for the future but live in the moment: whether it be good or bad it won’t last long.  So cherish the good times and live them to the fullest!

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Diagnosed with TSC at age 18.

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.

Vicky's children.
Vicky’s children.

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.

From Reflux to TSC

Second Annual “Blogging for TSC Awareness Month” Day 20

by guest blogger Melissa Marino  (New Orleans, Louisiana)

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

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

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

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

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

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

 

Joy Times Four

Second Annual “Blogging for TSC Awareness Month” Day 19

by guest blogger Courtney Bailey  

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

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

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

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

Second Annual “Blogging for TSC Awareness Month” Day 9

by guest blogger Jamie Perry  (Deltona, Florida)

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

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

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

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

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

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

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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Alee’s Advocate

Day 21 of Guest Blogging for TSC Awareness

By guest blogger Mindee Mata  (Kilgore, Texas)

photoWhen I was first asked to write about Alee I thought..sure ..no problem..I have been Alee’s advocate, her voice for 4 years. I can talk about her forever. As I prepared, I realized that on a daily basis I intentionally put all the horrible parts of her disease in the back of my mind. Her past…her future… I can not think about those things. I have to think about today and today is good! But in order for you to understand Alee I needed to revisit those things.

When Alee was born she was perfect…just like every baby should be but I was still scared to death. I had a 17-month-old and a 4-year-old. I wish I could say I enjoyed every minute of her infant stage but in reality I was on auto pilot until the day after her 6 month check up. She was falling asleep, but every time she started to doze off she would almost jump. It reminded me of the infant startle reflex. At first it just happened every now and then, but it gradually became so frequent that it happened every time she would try to sleep. It would happen all night long off and on with crying in between the clusters. I met with her pediatrician at the time but he had no answers. I called an old pediatrician I had used when we lived in Houston and even went to see her. She set us up with a neurologist but still nothing. Four months went by and she eventually stopped. I was relieved but deep in my heart I knew something was still wrong. My whole life changed one night when she was 11 months old. We were getting ready for bed and she seemed hot, so I gave her some Tylenol and thought she must be getting sick. We went to bed. A little while later I heard the awful noise…the noise I would start hearing so frequently I could hear it in a stadium of 100,000 people. Alee gasping for  breath. I looked at her and she looked like she was in a daze. She could not make eye contact and was completely limp. The only noise was her trying hard to breath. I had no clue what was going on. I had never seen a seizure before, especially one that started like this. My husband called 911. After 20 minutes of the blank stare, the all out seizing started and she stopped breathing all together. I had to do CPR on my baby girl…me…I just did it because I had no other choice. There was no time for an emotional breakdown. The EMT’s arrived, gave her an IV, and headed for the hospital. She was still seizing. At the ER we were able to stop the seizing but her breathing would not return to normal. They were forced to intubate and call for life flight to take her to the nearest pediatric ICU. My husband and I watched all of this basically in shock. I held her, sang to her, kissed her, but I held it together…until she was being loaded on the helicopter and we could not go with her. I looked at her little body all attached to wires and tubes with tears running down her face but no sound. I felt so helpless. The next 30 minutes felt like a lifetime as we drove entirely too fast to the hospital. In my mind the next part is just a haze of doctors, tests, sedation, and questions, but still no answers. We were in the hospital for five days until finally we had a diagnosis. There were eight doctors in the room when they came with her test results. I can remember watching the second hand tick by behind the doctors head because if I did not make eye contact it would not be real. She had tuberous sclerosis. WHAT!! What was that?  And there is no cure? What do we do? Do our other kids have it? We had so many questions, but we finally had a reason for why Alee was sick.

The next year was the hardest thing I have ever had to go through in my life. Alee was in the hospital 1 to 2 days every week. We could not get her seizures under control.  We were photo-18trying every medication available and we just had to wait and see if any would work. She literally ate, slept and seized. My whole life revolved around the seizures and the hardest part was it was affecting my other kids. My son was looking forward to kindergarten, so his first day of school we all got ready and headed out to walk him in and get some pictures. Our house was only three minutes from school, but it was just long enough for Alee to try to fall asleep and the seizures began. As we were walking in Alee started having a long seizure so I had to lay her on the grass in front of the school on her left side and start getting my emergency meds ready. My son was so nervous he was going to be late on the first day, so I gave him a hug and said, “I know you can remember how to get to your class so go ahead and go and I will be there in a few minutes to check on you.” He is so brave. He went and  I watched my 5-year-old have to grow up too fast because of this terrible disease. Alee’s sister went with me everywhere. I was forced to stop working because Alee need 24-hour care and I did not have any family in Waco. Alee was having to get blood work all the time because we were changing meds so frequently and we needed to know how much was in her blood. She had so many IV’s and blood draws that her little veins just collapsed. At one visit they strapped Alee to the board and started trying to get blood. No luck. By stick nine she was screaming and in and out of seizures. The tech was crying and I looked over at Isabella who was sitting like a big kid in a chair and tears were just running down her little face.  All she said was, “Mommy, please make them stop.” Well, I basically lost it then. After stick 14 there was still not blood so we called it a day and would try again tomorrow. I realized that we were all suffering. My husband and I decided to move closer to family so we could have some help with the older kids. And..well..that was God’s plan all along. We had not even started looking for a job yet when my husband received a call that there was a job opening in his home town.  So, within a few months, we moved to Kilgore.

Alee’s social worker at the time told me about a clinic for TSC kids in Houston so I got on the waiting list. After a long 4 month wait we were finally able to see the docs there. Her new neurologist wanted us to try an experimental drug, Sabril, and at this point I would have done anything. I gave it to her for the first time on a Monday and by Thursday she was down to three seizures a day. My prayers had been answered. But the downfall of this drug is it can cause permanent vision loss. Today Alee has lost a little of her peripheral  vision and once that is gone it will take it all. So, we were forced to make a decision. How much vision loss is too much? So when all of her peripheral vision is gone we will take her off the one and only drug that is keeping her from seizing out of control.  We will start the cycle all over again…this may be in six years or six months. We just have to wait and see. On top of the seizures she has tumors in her brain, heart, eyes, skin, face and kidneys. We will more than likely have brain surgery at some point. She will develop polycystic kidney disease, go into kidney failure, and be placed on a transplant list. I know the reason God made her so strong willed…it is because she is going to have to fight for the rest of her life! Her struggles are not going to get any easier, just harder as time goes on. When you think about your children in the future you picture them playing with their friends at recess at school, falling in love, going to college, getting married, having children, but that is not the life that was given to Alee. She has a different path. She is going to be an advocate for TSC. She will help find a cure for this horrible disease.

I wish I could say I was always this positive, but in reality, some days you just want to give up. The loneliest place in our house is the laundry room. That is where I go when TSC gets too big for me to handle. Many, many breakdowns have happened in there, but it is also where I pull it all back together. The emotional side of any disease is too much for most people, but that is not all that is involved when you have a sick child. We are struggling now with so many decisions because she is about to turn 5. Public or private school? What things do we fight for on her IEP? How do we handle that she does not sweat due to long-term use of topamax or her sleepiness from all her meds at school? How do you send your baby to school knowing that she cannot communicate well enough to tell you what is happening there?  I really do believe that God carefully chooses special needs parents and children. You have to be strong, patient, and sensitive at the same time. You have to be able to comfort your seizing child while fighting the ER doctors for her life. You have to be able to hold it all together when the specialty pharmacy forgets to send her meds and you know the outcome will be a life-threatening hospital stay.  Our entire family fights the TSC battle every day and we will not stop. We will give everything but up!!!

Love For Lani

Day 20 of Guest Blogging for TSC Awareness

By guest blogger Kimberly Clisbee  (Los Angeles, California)


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When you are expecting a child everyone has advice to give. What diapers are the best, what to do for a fever, rash, or tummy aches. But no one prepares you to hear the words “your baby has brain cancer.”  I would like to bring you on Lani’s journey and share with you her struggle and successes with this dreaded disease that we now know to be tuberous sclerosis.

I moved to California from NH in hopes for a better life. It was 2009 and we were in a deep recession. I was unemployed and could not find work to save my life, so I enrolled in college in the pursuit of a bachelor’s degree in criminal justice. I attended school for a year, but as my unemployment was coming to an end, I needed to find employment to pay the bills.

At the time I was teaching martial arts and had a great opportunity to open a school with a martial arts colleague of mine in LA. During a business meeting in September of 2009, I met Chris,  and we fell for each other almost immediately. For the next three months he would fly out to visit me while I was closing out my affairs in NH. We would drive out to California on December 27, 2009. In February of 2010 I discovered I was three months pregnant. The plan was that I would give birth, then go back to school to finish my degree and get a job to support my family. When I arrived in California, Chris revealed that he was disabled and could not work due to seizures. He was scared to tell me because he thought I would leave him. But I am not that way. If you love someone, you love them no matter what.

When Leilani was in my tummy everything was fine. I had placenta previa when I was pregnant, so I had monthly ultrasounds which never displayed any developmental childrens hospital 042problems. I was always told everything looked great. I also had an amniocentesis which came out fine. So when I had Leilani on August 26 I was expecting to have a perfectly healthy baby girl. From the first moment I held her in my arms I knew something was not right. She seemed to jump and twitch every couple of minutes. I kept asking the doctors if there was a chance these were seizures since her dad had a history of seizures, but I was told they were infant twitches, common to newborns.

Well I have been around a lot of newborns in my life and I knew it had to be more than that. Trying to breast feed was also a big challenge for Lani. She would start off fine but then start jumping and end up stopping a couple of minutes in. The doctors again said everything was normal. Finally two days before we were to go home I called the nurse in my room because Lani’s breathing seemed labored. They brought in a respiratory specialist that said that Lani did not get all the fluid out of her lungs when she was born and needed to go to NICU until they were clear. I was relieved.

I thought that was it; she was just having problems breathing and the everything was going to be fine. That was on Saturday the 28th. The next morning at 6:00am I was woken up by the NICU doctor in charge. She had informed me that Leilani had a seizure at 3:00 am and was down having an MRI. Since Lani was delivered by caesarian they told me they were just waiting for a wheelchair and then they would bring me to her. I never hopped out of bed so fast in my life and started down the hall towards the elevators. Radiology was all the way on the other side of the building three floors down, and I think I made it there in light speed.

I don’t even remember being in pain, it just went away right at that moment. All I felt was fear. They were only a level 3 hospital, so they did not have the ability to perform contrast MRIs. All you could see was a 7 centimeter shadow taking up ¾ of Lani’s right hemisphere. She was immediately sent to CHLA. She would get the care she needed there. Unfortunately I was stuck in the hospital until the next day, so I sent Chris and my mother with Lani. That was the longest night of my life! I was alone, I was scared and I was asking every five minutes if I could leave. Finally, the next day around 2 pm, I was released.

surgery 2011 022We went straight to the NICU. She was hooked up to so many machines and had so many people around her. I literally felt drunk. So many people were coming in and out, introducing themselves, telling me not to worry, as if that were possible. Finally one of the doctors came in and told me they were able to perform a contrast MRI on Lani and what they were seeing was a solid mass. They needed to do a biopsy ASAP to determined what it was. So on September 9th at 7:00 am Leilani went in for her very first brain surgery. She was only 13 days old.

Knowing that your child is going to be in the hospital long term not only holds an emotional strain but a financial one as well. We live 60 miles from the hospital, and in LA traffic that could take up to 2 hours both ways depending what time you left. For the first week we had to commute back and forth and since I couldn’t drive. My poor mother who came out for two weeks had to cart me around. This was very hard for her. Not driving me around but the whole thing. She came out to see her granddaughter come into this world and to help me and instead she got to take part in this nightmare.

She was only able to stay for a couple of weeks and in that time she had to rotate seeing the baby with Chris, hold her granddaughter in a hospital room full of sick babies, and leave without knowing what Lani’s fate would be. Thank you Ma, and I am sorry you had to go through that! We met with a counselor, Glenda. She helped us arrange everything we needed for Lani- business, personal and otherwise. She organized Lani’s baptism which was held in the hospital before my mother left, and she hooked us up with one of the greatest organizations ever! The Ronald MacDonald House.

They made things so much easier for us!!! They are right across the street from the hospital. They have a fully stocked kitchen at your disposal, your own fridge space and cabinet space so you don’t have to eat out. They have a laundry room, gym, counselors, and most nights, volunteers come in and make dinner for you. The charge $25 a night but it is based on your income, so if you can’t afford to pay they waive the fees.

We met a lot of other wonderful people there that were going through their own struggles with their children. We bonded with a few of the families, but sadly, over our 43 day stay we witnessed half of them lose their battle. That was one of the hardest parts. These people were people we had coffee with in the morning and exchanged stories with, we would take the shuttle back and forth with them, our children were in the same rooms. Until one day they weren‘t. And you see the other parents in the hall crying, and they don’t really want to talk to you because your child is still fighting and theirs lost their fight. I pray for those families every day, and I thank GOD it was not us. People don’t realize the ¼ of the children in a NICU never make it out. We were one of the lucky ones.

I decided early on that I was going to act as if this was a normal for Lani’s sake, so I was there 12 hours a day. I brought clothes, toys and bedding from home. No hospital stuff was to be used. I would be there at every feeding, bath time and doctors rounds. If I was going to do this I had to stay strong, so there was no crying allowed around Lani.

One of the first thing a child learns is emotion and they feel that through their parents emotions so I tried very hard to keep it as normal as I could. Don’t get me wrong, I lost it plenty of times!! But I would leave so she wouldn’t feel it. She was not able to feed from me so I pumped every three hours. I read her bed time stories every night and held her all the time. Singing to her and telling her all about her room, her family who loved her, and what we were going to do when she got home.

I really think that mental mindset made a big difference for everyone. It helped me cope with what was going on and gain control over my situation, as well as seal the bond between Lani and I. Mom had to leave and it was time for Lani’s biopsy. I was never so scared in my life. The surgery took three hours which felt like an eternity. We had to wait a week for the results so in that time we just tried to stay positive. Leilani was having a seizure about every 10-45 min. Her oxygen levels were always good which is what you want; no oxygen is what causes brain damage. But she was having infantile spasms which are very dangerous and usually don’t show up until 6 months of age.

I had to convince them that was what was going on. The nurses kept telling me no, she could not be having infant spasms as a newborn and moved Lani to the back of the room. They took her from having two nurses to having one nurse who was not even paying attention to her. Well that was my first run-in with the nurses, and not the last I assure you! I called the head of the department of neurology. Lani being such a rare case it was easy for me to access anyone and everyone. Everyone wanted to be part of her story.

I told him what was going on and insisted they look into her seizures so there was no more doubt or guessing. So he did. He called down to her room, reprimanded the nurses, and had them move her to the front and reassign the other nurse. They were not happy with me but I didn’t care. I was not there to make friends, I was there to save my daughters life. Most of the nurses were great I must say, but there were a few that just didn’t work for me and I let them know it. You have to. If you see something that seems wrong it probably is, and if you do not open your mouth and address it you have no one to blame for the outcome.

They performed an EEG and it confirmed they were infantile spasms, which in itself was extremely rare. The hardest part for the staff, as well as us, was that they have never seen a case like Lani’s before and they had no idea what to do for her. Finally the pathology came back and we were called into the conference room. When we got there we saw ten people sitting around the table, some we knew and some we never seen before. We were told that Leilani had a rare form of brain cancer called “Congenital Gemistocytic Astrocytoma” and that there were only three other known cases in medical history. The other cases were successful but Lani’s case was a little more complicated. She had one big tumor and two small tumors on the right. But she also had one small tumor on the left.

They could only operate on one side and it had to be the right, so they told us it didn’t look good. They said if I never had the respiratory nurse check Lani’s breathing and she went home she would have died in a few weeks. Then they went on to say that her chances of surviving such a big surgery for such a small baby were slim, and if she did make it, the left side would eventually grow, and if that happened than there would be nothing they could do. They suggested the unthinkable. Just take her home and let whatever happens happen. I told them that was not an option! If she dies in surgery then that is what happens, but I was not going to sit by and do nothing! I don’t care if you have never done this surgery on a 3-week-old! But either you take her to UCLA or I will, but she is going to have this surgery! At first they told us they were going to take the whole right side, but they only took the frontal lobe and part of the center portion.

The surgery was a success! Her seizures were gone. Her pituitary gland went into shock as a result of the surgery, so she developed diabetes incipitus (water diabetes) and renal disorder. She had to go home having two shots a day of DDAVP (a really dangerous drug that controlled her sodium levels) along with phenobarbital and topamax to control her seizures and hydrocortisone to control her adrenalin. All this adult medication for this 7 pound baby, but if it was going to help, who am I to question. I am not a doctor. Boy has that attitude changed! I was just so happy to take her home! She didn’t sleep the first few days because of the dark and quiet. She was so used to all the lights and noise of the hospital. We were so hopeful that this would be it.

Lani was released from the hospital on October 14. We were so hopeful that this was going to be it. That she would come home and recover and never have to have another surgery again. The first week home was great, she progressed so much! She was smiling and playing, doing all the things a two-month-old baby should do. A week later, mother came to visit. Everything went well, my mother got to see Lani out of the hospital, and Lani got to spend time with her Grandma. It was the night before my mother was to fly back to Boston and I was getting Lani ready for bed. She was lying on my bed while I was puttering getting things ready, when I looked down at her and noticed she was kind of breathing funny and her eyes looked red and a little watery. She almost looked as if she was scared. We didn’t make much of it and went on with our night hoping it was nothing.

Two days later I noticed it happen again. It was really hard to tell because it lasted seconds and she didn’t have any typical seizure signs. But I knew. My heart dropped. We called her doctor the next day and told her what we were seeing. She said it didn’t sound like a seizure but she wanted her to have an EEG anyway. So we went in for an EEG and it was confirmed that she was having seizures again. Her doctor told me that her visual signs and EEG results were so slight, it was hard to tell what was going on. She asked me, “What, do you do stare at her all day?” And I said, “Why yes, I do.” She laughed and called me the “seizure dog mom.” She said that they had to look at the video over and over again to see what I was seeing. I replied, “Well, I am a mom and moms just know.”

The performed an MRI just to be sure that it was a tumor causing the problem and they found one on her temporal lobe. They scheduled to have a temporal lobe resectioning on November 30. In the mean time Lani was still receiving two shots a day for diabetes insipidus, which I insisted she no longer had. But I would fight that battle after Lani’s surgery. This surgery was a bit of a nightmare. Before surgery (as most of you know) you can not eat for 12 hours, so when it is a baby they try to get them in ASAP. Well, the scrubber in the operating room was not working and since Lani’s doctor did not want to use another room, we had to wait three hours. She was seizing every hour, and she was hungry and scared. It took them five times just to get an IV line. Complete nightmare! They finally took her in and then the waiting game began. This time it was nine hours! I was so scared. I kept having them call to make sure everything was ok. Finally the doctor came up and told us he got it all out and she was on her way to the PICU.

The first person we met the PICU was Lani’s nurse whose name I can’t remember. She was a good nurse for the most part- nice enough. But the thing that I remember the most was when I walked in and she was ordering insulin along with Lani’s other meds. When I explained to her that she didn’t have sugar diabetes, that she had diabetes insipidus and needed DDAVP she said to me, “What’s that?” Scary right!? But then that was followed by, “Thank you for telling me! It gets so busy in here that I don’t always get time to read the charts.” Well needless to say, I didn’t leave that night! Thankfully we were only in there for one night. We were transferred to the main floor the next day and released two days later. This was a relatively easy surgery for Lani and she was back to herself in a couple of days. They used the same incisions, so there was no new scaring and most importantly, no seizures for three weeks…

So after three brain surgeries we are right back where we started. But this time she is having infantile spasms again, along with her regular partial onsets. They were not sure if Lani could have more surgery being so young so they wanted to go the medication route. What does this mean for Leilani? More medication. The upside is that her seizures would eventually be under control. The downside is that you are filling your baby with poison that could give her all kinds of other problems.

These medications have serious side effects and as a mother I had to research each and every one so I would know what I was willing to try and what was too risky. I do recommend you for the most part listen to your doctors, they didn’t spend hundreds of thousands of dollars and 8+ years in school to not know what they are doing. But the reality is, hospitals like anything else, are businesses and everyone wants to get paid including the pharmaceutical companies. So don’t be afraid to say no if you are informed about what it is you are protesting.

I was finally able to convince them that Leilani’s pituitary gland was functioning on it’s own so her endocrinologist took her off of the DDAVP and Hydrocortisone J. So now she is only on four types of anticonvulsants at adult doses, and she is still having up to 18-22 seizures a day that last almost 5-10 minutes each. She has been going like this for three months, which is how long I told her doctors I would give all this medication to work. Add some subtract some, it made no difference. So I told them I want to do something else because I was not willing to let these medications ravage her internal organs, they were not helping.

They recommended two alternatives: Sabril, a drug that could damage her peripheral vision, and carried no guarantee to stop the seizures. Or a high powered steroid called Actar. We went with the steroid after doing much research. This medication cost $25,000 for a two week supply! Thank GOD I didn’t have to pay for it. But it had to be administered intramuscularly twice a day which was the hardest thing I ever had to do. My heart broke every time.. She immediately started having side effects. She was inconsolable all the time!!!! And this is a baby who is always happy. She was swollen, hungry all the time, and just flat out miserable.

Her seizures did not stop or slowed down, so after two weeks of this I wanted to stop. We went to her pediatrician for a check-up and her blood pressure was 170 over 95. We immediately took her to CHLA. Her neurologist did not want to admit her. She said the when her blood pressure got under control she could leave, but I knew there was more going wrong. I kept telling them she was having problems peeing and that she had a history of DI. This was not true of course but I knew it would force internal scan, given the fact that ACTAR can shut down your kidneys and liver.

After doing some tests they discovered her liver was ¼ larger than it should be and had a gritty texture on it. She was admitted immediately. Because the medication was not appropriate for her seizures, all the bad side effects took place. This is why it is dangerous to take medication your body does not need. After four days in the hospital I went to see her surgeon to demand he rethink Lani’s surgery. I was not taking anymore chances with medications, nor would I let her keep having seizures that could cause permanent brain damage or, even worse, kill her.

He said that it would be too dangerous and the seizures would not cause as much damage as the surgery could. It is hard to know what to think or what to believe sometimes. He has performed three surgeries on her already. I thought he truly cared; he is an accredited brain surgeon. I said I would try one more thing but on my own conditions. I would try a ketogenic diet. It was medicating, but with food; it was been proven to reduce and stop seizures. I wanted her taken off all but one of her anticonvulsants, and if this did not work I was going to do what I had to do. With much fighting over trying Sabril, which was off the table for me, considering this last fiasco they agreed.

We were getting ready to go to Boston for a visit so I asked Leilani’s doctor for all of her medical records, tests, MRI results etc. The plan was to have a doctor at Children’s in Boston take a look at her case and get a second opinion. She gave me a consolidated report of Leilani’s case. She also gave us a referral for a doctor in Orange County and stated that she has been pushing for the surgery.

We made an appointment in OC before we left for Boston and that is where we met her new doctor. If you have ever had to deal with a surgeon you know that for the most part they are not very warm and fuzzy. Especially brain surgeons! I don’t know if it is the whole GOD complex thing, or they have been numbed from seeing so much. Our new doctor was the exception to this rule. He insisted we call him Devin and hugged and kissed Leilani as if she was his own child. This gave us great comfort. To Dr. Binder Lani is a person not just006 a patient. Every time we go to his office he is introducing us to the staff that does not know us. He even keeps a picture of her in his shirt pocket.

Chris and I did not come to our decision easily, this was a big surgery. For the most part, small children recover from it nicely. But Lani was only one year old and this would be her fourth surgery in a year, something that in itself is unheard of. The other issue is Leilani had a tumor on the edge of the left hemisphere. And there was a dispute on whether it was on the basal ganglia or the third ventricle.

The basal ganglia are associated with a variety of functions, including voluntary motor control, procedural learning, relating to routine behaviors or “habits” such as eye movements, and cognitive, emotional functions. And the other was the third ventricle, which is mainly responsible for storing cerebral fluids, and not as dangerous to operate on. But our doctor was sure it was the third ventricle and that it would be ok. So with that we put our trust in him and consented to operating on both sides. The decision was the toughest decision we have ever had to make. This could have stopped her seizures or left her paralyzed, but we wouldn’t know until it was all done. Sometimes you just have to trust in your gut and in GOD to that everything will be ok. And it was.

Leilani’s surgery took three hours and she was screaming “Mamma” in the recovery room. Music to my ears! She was on her way to a speedy recovery, eating and showing that she recognized us. Her surgery was a success! When they wheeled her to PICU I noticed she did not have a drain. I asked why and the doctor told me that neither he nor the hydrocephalus surgeon who assisted him thought she would have any problem draining the fluid naturally. Wrong! Within a few hours her head swelled up like a balloon. She was throwing up and screaming from the pain. I was so mad because I asked them right out of surgery if she needed it and they said no. This is something that can be done at bedside, so if they did it when I asked then she would not be going through this.

One mistake does not reduce him as a doctor to us. Yes we are still dealing with the effects because she has a little droop to her eye, lots of nerve damage, and is still on a feeding tube. But in the grand scheme of things she is alive and seizure free. So we still stand by our decision to have him as a surgeon and would recommend him to anyone. He has since told me no matter how small the surgery, because of Leilani, he will always drain, so lesson learned I guess.

She would spend the next month in the hospital recovering from this. I slept in the hospital every night. The only time I left was two hours at night to shower and eat, but other than that I was a permanent fixture in the hospital. For the most part the hospital was top notch and the staff was great. There were moments where I was glad I didn’t leave, like the time the nurse forgot to stop the drain and her CSF was all over her bed! Or the time I did leave and came back to find my baby sitting in her own throw up! Of course these instances were few and far between. We were there for a month and it was a very busy PICU. More so than any other I have ever been in. So on a scale from 1-10 I give them an 11. They were truly amazing.

We had a genealogist who was trying to uncover what caused all of this. She took one look at Chris and could see he had TSC. She asked us to talk to his doctor since he has had brain surgery in the past and was under the care of a neurologist, but his doctor said no, he had Sterg Weber disorder, so we all let the idea go. Lani’s heart was fine, and after all, she was born with cancer. As time went on, I did a lot of research online about TSC, and a week before we were to be discharged, I noticed the smallest white spot on the side of her leg.

I called the doctor in and asked if she could do a DNA test on her to rule it out. I need to know how to go forward with Lani’s treatment and what to expect. Her test results came back positive. This weighed heavy on our hearts, but it was better to know than not know. We later had Chris tested and he also tested positive for TS1.

Going forward, Lani sees every week: two physical therapists, one occupational therapist, an early interventions therapist, an eye function therapist, chiropractor, acupuncturist, a feeding therapist and a speech therapist. And this is just to be able to do all the things that all of us take for granted, like walk and talk and feed ourselves. We work with her every day all day! And that is what it will take. But she will be able to function on her own if I can help it! She is the strongest little girl I know and if anyone can do it she can. With all of this we still and always will feel blessed to have Leilani as our daughter. She has given us so much love and hope and we would not change a thing. GOD has a purpose for Leilani. I truly believe that.

Please check out Kimberly’s Facebook page: Love 4 Lani

Why We’re Thankful for TSC

Day 17 of Guest Blogging for TSC Awareness Month

By Guest blogger Catrina Jones  (Monroe, Louisiana)

Note from Mixed Up Mommy: This was originally a Facebook post in the TS Alliance forum. I asked if I could share it here because I think it’s such a great story.

Hannah in August 2012.
Hannah in August 2012.

My daughter Hannah Grace, now 11 years old, started having infantile spasms at 8 months old. After an EEG was performed, it was determined that she had idiopathic benign occipital epilepsy. We were then referred to a local neurologist a month or so later, who ordered MRI/Brain prior to our appointment. I will never forget the day I received the call with the MRI results from the neurologist’s office where the nurse told me over the phone (while I was at work) that it was suspected our daughter had tuberous sclerosis. She said I needed to pick up the film and report to bring with us to Hannah’s appointment, and the doctor would discuss this further. When I asked her what tuberous sclerosis was, she could not tell me and informed me that the doctor would have to give me that information. I was in such shock and dismay that I dropped the phone at work crying, and a co-worker had to finish the call with the nurse. This co-worker immediately went to the internet and pulled up a fact sheet about TS and began reading it to me. After I composed myself, I called my husband and the rest of our family with this news of our daughter having something we had never EVER heard of. I remember having this huge fear of the unknown. When we took Hannah Grace (who was 11 months old at this time) in to the appointment, the neurologist said that he wasn’t sure 100% she had TSC because of lack of other symptoms, but when he started naming off things associated with TSC, the white patches were present on Hannah Grace. He took the woods lamp and inspected Hannah Grace, and to our surprise, she had a LOT of them on her body. He then said he had to concur that she did have tuberous sclerosis. As for her infantile spasms, he ordered her phenobarbital. Later on, her IS started developing into partial seizures so Tegretol & Topamax was added to control those.

So, with the new diagnosis of TSC, began a life of yearly testing and doctors visits. Since Hannah Grace was so young when she was diagnosed, we were unsure of the severity of her TSC. Did she have a mild case or was hers more severe? She was meeting milestones at her regular pediatric checkups, so we were hoping that by controlling the IS, just maybe she would live normal life. She does have some mild developemental/learning/cognitive delays, but at 11 years old, she is pretty much living a normal life that TSC says she should not be living. She has been seizure free for eight years now, and we could not be happier with her progress and accomplishments . She has overcome so much in her life. But our story doesn’t stop there.

Where most of you hate/despise TSC, our family is THANKFUL for it. You see, it was because of Hannah Grace having TSC that we went to her yearly checkup with the neurologist this past July. Actually, it was a six-month checkup, because we had been weaning her off of Topamax, since she has been seizure free for so long. The neurologist always runs labs to check her medicine levels. Those labs that day came back to show Hannah Grace had extremely low white blood counts, and it was thought she was developing a virus. We were told to take her to her pediatrician for a followup to let them check her for mono or other viruses. We went into the office the next day, and they re-ran her labs to find that her counts had dropped even more. They tested for numerous viruses and all came back negative. We were sent home in hopes that she had some type of virus that she would rid itself over the next week, and were told to come back later for repeat labs. The following week, her counts were even lower than the week before. The pediatrician was baffled because Hannah Grace showed no signs of being sick, yet her counts continued to decline. We were sent home under strict isolation and told if she developed a fever to get her to the ER. That night brought the fever and an ER visit. She was admitted to the hospital where our new journey was just beginning.

For two weeks in the hospital, Hannah Grace fought extremely high fevers, developed a rash, and her chemistry levels began to fall. She eventually ended up in PICU, where the

A recent photo of Hannah Grace.
A recent photo of Hannah Grace.

MD told me she was critical and needed to go under a pediatric hematologist because her counts had bottomed out. It was determined that we would be transferred to a Baton Rouge Children’s Hospital under the care of a hematologist. When we got there, they believed she had an infectious disease, so tests were run for every infectious disease/fungus there was, and everything came back negative. After a week of this, a bone marrow aspirate was done August 7, 2012, and we were told on August 8, 2012 that Hannah Grace had acute lymphoblastic leukemia. OMG, for a second time in our lives, we were hit with devastating news. Our little girl has cancer. The last ten months of our lives have been spent at St. Jude Children’s Research Hospital & Affiliate fighting leukemia. I would give anything in the world if I could go back in time to the days of her having to deal with just TSC. TSC we were managing and doing well. Hannah Grace is in remission, but she will have to be in treatment for the next 2 1/2 yrs to make sure she is completely cured of leukemia. This road has had many difficulties, but we are most THANKFUL that St. Jude has decided to help treat her TSC along with the leukemia. This week, we came back St. Jude because they started Hannah Grace on Rapamune (Sirolimus) to try to shrink the SEGA and other tumors she has throughout her body (mostly on her brain & kidneys). We are so THANKFUL to have this opportunity, where we probably wouldn’t have had it back home in our small town. God works in mysterious ways!

We invite you all to checkout our pages at:

https://www.facebook.com/LouisianaTuberousSclerosisPage

and https://www.facebook.com/HannahsHopeForHealing.

An Eleven-Year-Old Takes on Capitol Hill

Day 15 of Guest Blogging for TSC Awareness Month

By guest blogger Jennifer Silva  (Prince George, Virginia)

TS walk and KD 016Most people never forget the day something tragic happens to their child.  Little did we know September 19, 2002 would put us on a never ending journey.  What started out as a normal morning that day, ended in exhausting weeks and months of the unknown.  My first child Jared was born five weeks premature, after complications of preeclampsia.  Even though he made his debut into the world much earlier than anticipated, he was the image of health.   He weighed 5 lbs and 15 ounces, with healthy lungs and heart.  He incurred a small bout with jaundice, but other than that everything was seemingly great.

On September 19, 2002, Jared was approaching 9 months old.  He played that morning, with no warning signs of what was about to happen.  Shortly after he laid down for his nap, I heard a very odd sound coming from his room.   After a few moments, I went to see what the sound was. I was in total shock at the sight in front of me.  Jared was in a full seizure, jerking about in his crib, and foaming from his mouth.   His dad was home at the time and called 911.   It seemed like an eternity, before the ambulance arrived.   That seizure lasted more than ten minutes.   Once at the hospital, doctors weren’t sure what had caused his seizure.   His cat scan revealed what was thought to be blood.  He was transferred to a larger hospital, into a PICU unit.

 An MRI was done and we were told he had bleeding on his brain.   After several days in the PICU, hospital social workers started questioning us as to what had happened to Jared.   Jared moved down to a step down unit, and things started to get weird.  We were being treated very oddly.   Jared had been at the hospital for a week, when the local sherriffs’ department showed up and said that someone at the hospital had reported a possible shaken baby case on us.  We were in total shock. Within days we were in court being asked by a judge if this had occurred.  Of course it hadn’t.  They put the poor child through a whole body x-ray to see if any broken bones had healed over from past injuries.  The case was considered unfounded, and we left the hospital with Jared after close to two weeks has passed.  The watchful eye of social services followed.

Months went by and Jared did well on his anti-seizure meds.  An MRI follow up was done, and to our surprise, the blood was still there after months.  That’s when they knew there had been a terrible mistake.  Jared had a tuber, not blood.  A little more time went on, and at Jared’s next visit, it was discovered that Jared had odd white spots on his back under a wood’s light.  That’s when the words tuberous sclerosis came up.   Of course, back then there really wasn’t that much info out on the web, and most of it was very traumatic information.

Jared went on about his childhood under the watch of his neurologist.   He did very well, with few seizures and few tubers.  As he got older things did change some.  The skin abnormalities have come out (angiofibromas, café au lait, depigmentation, some forehead plaques), and some learning problems have been noticed.   Jared did so well on the seizure side of things; he went for years without an MRI.  Everything changed on December 26, 2011.  Jared started having seizures and was rushed by ambulance to the hospital because he wasn’t breathing.    It was determined that he had strep throat and had outgrown his seizure med levels.  An MRI was done, and they found a SEGA.  The SEGA didn’t cause the seizure, but it most likely wouldn’t have been known about, if not for the seizure, until it caused problems.

Initially he was just watched, but then we saw a pediatric oncologist who ordered a new MRI.  It had been eight months since the seizure sets, and Jared had three SEGA’s by then.  He started afinitor, and as of March 2013, his SEGAs have drastically shrunk.  In June he will have a new MRI and go from there.   Jared accompanied me to the March on The Hill in 2013.  He saw how government works, and was amazed at all of it.  We have had several publications about our story recently and I am glad to see TSC getting attention.   When I took on Chair of the TS Alliance of Virginia, I knew then that I would have an uphill battle. But with a little effort change can happen.   Jared is a typical 11-year-old child now; he has some issues, but we are grateful for all the new advancements in TS world.   His father and I divorced years ago and have given Jared a large extended family.    Jared is a special child, with lots of family supporting him.

I know one day he will help out others. He helped me stuff and mail out envelopes for our Virginia Educational Meeting in June.  He said, “Wouldn’t it be great if all these people showed up to support TS?”  The world needs more caring, compassionate 11-year-olds like Jared.