Tag Archives: ultrasound

Identical Twins Diagnosed With TSC

Day 27 of Blogging for TSC Awareness

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

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

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

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

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

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

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

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

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

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

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

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#iamtsc #tscawareness #tscwarriors #piekematwinstscjourney #punchtscintheface
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For the first time in my life, things were not in my control.

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Day 21 of Blogging for TSC Awareness

by guest blogger Debdatta Bhattacharya  (Portland, Oregon)

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

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

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

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

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

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

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

One Hour At A Time

Day 6 of Blogging for TSC Awareness Month

by guest blogger Fatima Badri  (London, England)IMG_5356

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

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

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

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

I spent the next four weeks reading everything I found on the internet IMG_3640about TSC and I cried like I had never cried before. My heart ached for my baby, and it ached for my husband for losing the normal healthy son he was so looking forward to having. I resented every healthy baby and all the mothers that would never experience this overwhelming pain. Most of all I hated myself for being healthy but carrying a baby that had a disease that had no cure.

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

IMG_2762Eli is now 4 and half months old, we are at the beginning of our journey and the road ahead of us is long , there are many uncertainties that lie ahead.My heart breaks a little more with every test Eli has. People tell me that I’m strong but I don’t see what other choice I have. My son needs me to be strong for him. He needs me to fight this disease and not give up.

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

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

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

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

So much going on this Month but we made it.

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

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

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

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

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

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

Washington D.C.

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

Boston

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

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

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

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

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

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But I must reiterate — I looked really cool.

Katie Beckett and IEP

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

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

Connor’s 3rd Birthday Party

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

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

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

Second Annual “Blogging for TSC Awareness Month” Day 28

by guest blogger Krystal Meier  (Rochester, New York) 

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

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

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

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

Second Annual “Blogging for TSC Awareness Month” Day 25

by guest blogger Becky Ruppe  (Cumming, Georgia)


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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

 

Joy Times Four

Second Annual “Blogging for TSC Awareness Month” Day 19

by guest blogger Courtney Bailey  

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

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

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

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