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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…

 

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It’s not all about the TSC.

Second Annual “Blogging for TSC Awareness Month” Day 24

by guest blogger Sarah Gray  (Atlanta, Georgia)

Mary Stuart, 16, Julia, 14, Jackson, 12 and Millie, 8
Mary Stuart, 16, Julia, 14, Jackson, 12 and Millie, 8

I have four children, who are mostly a joy and a delight, despite their collective inability to clean up anything. We spent three years dealing with miscarriages and infertility (“the dark years”) , and my husband and I are incredibly grateful to be parents to the big family we always wanted. That’s not to say we haven’t had our challenges!

Our first child arrived perfectly on her due date, and was a ridiculously easy baby. Hardly ever cried. I nursed her exclusively for five months and for a total of 9 months. We had her head x-rayed at age 2 or 3 or 4- I can’t remember much with my addled brain- because her soft spot hadn’t closed up, but it turned out to be just a weird thing. She never crawled on all 4s; she went from commando crawl to walking at 16 months. When she was older she had pretty strong sensory issues, and could not stand to have any tags in her clothes, which made it tough when I was handing things down and couldn’t figure out what size anything was. In typical oldest child fashion, she is a perfectionist and has a lot of stress, but we are surviving teenager-hood and she is finishing her sophomore year, in mostly honors classes, at a competitive private school.

Our second child was really active in utero, and partly because of that, we were shocked when she arrived and wasn’t a boy! She was a pretty typical baby, and a hilarious toddler. I nursed her exclusively for about a month, and a total of 5 or 6 months. She walked at 15 months and was clumsy- she had a perpetual bruise in the middle of her forehead. She was late to talk in sentences, but after some speech therapy caught up with a vengeance and was chided for talking too much in Kindergarten. She is a star in a local junior dance company, and I can’t believe I have a child who can dance in toe shoes, since I am so uncoordinated. She is completing 8th grade at the same school, in mostly honors classes and on honor roll.

Our third delivery was really fun because we had the “It’s a boy!” moment when he came out peeing all over like a loose garden hose. I nursed him for about 4 months maybe? He was a great baby; walked at 17 months just before we were going to start worrying. He had sensory issues that we noticed from about age 1: he wouldn’t eat frosting or ice cream, didn’t like finger foods that made his hands dirty, and as a toddler wouldn’t walk on bark playgrounds with sandals on. At age 4 he was flagged for OT in preschool. In first grade we had him evaluated, and he was shown to have many deficits which I can’t really describe, but I remember when she blindfolded him and held his head he got really uncomfortable. He loved OT, but after 3 years of trying to make his hands stronger so he could write legibly and without pain, I gave up and asked his teachers to let him type his assignments. He’s finishing 6th grade at the same school as his sisters, doing very well academically, but has OCD-like tics like playing with his fingernails, and still doesn’t eat frosting or ice cream! He plays basketball all 4 seasons of the year.

Number four is an adorable, somewhat spoiled youngest child- the only one with light hair and her daddy’s beautiful blue eyes. I got really sick when she was 2 months old and had to quit nursing cold turkey- ouch. She has extremely pale skin, and was the earliest walker of the 4- 14 months!! Someone said, “well, that’s OK”, and I said, “Are you kidding? She’s a prodigy!” At the end of Kindergarten, her teacher suggested that we hold her back, so we moved her to the school her sisters went to so she could go to pre-first and catch up a little. Later that year we suspected Dyslexia or some learning issue and had her evaluated, and she is on the lower side of the ADD spectrum, and has some visual processing issues. She is obsessed with cats, and is very, very social. One of her 2 “BFF’s” has cerebral palsy and uses a walker.

So which one has TS? Just one of them. I know I cheated because I left out the seizures and skin issues, but I was trying to make a point, which is hard to articulate. I guess I am trying to say, clumsily, that every child is his/her own wonderful, amazing self, with abilities and flaws, with strengths and weaknesses, and TS may be something that they have, but TS is not who they are.

Julia about a year after diagnosis.
Julia about a year after diagnosis.
Julia in her middle school performance of Bye Bye Birdie- she was diagnosed with TS at 19 months, with the onset of seizures. She has all the typical “stuff”, and since it’s TS. she has weird stuff, too, like a big bump/growth/thing on her tongue. The world would definitely be an emptier place without her in it!
Julia in her middle school performance of Bye Bye Birdie- she was diagnosed with TS at 19 months, with the onset of seizures. She has all the typical “stuff”, and since it’s TS. she has weird stuff, too, like a big bump/growth/thing on her tongue. The world would definitely be an emptier place without her in it!
Julia’s Team at one of the TS walks.
Julia’s Team at one of the TS walks.

I like to think that God has given me other gifts to make up for me having such a rare disease.

Second Annual “Blogging for TSC Awareness Month” Day 23

by guest blogger Kate Carter  (Ann Arbor, Michigan)

297781_1483085518122_1098623929_nI was diagnosed with tuberous sclerosis back when I was 2 ½ years old. I am now approaching my 22nd birthday. So, I have lived with TSC as long as I can remember but I haven’t let that stop me. As far as we know there is no genetic link so it’s just a mutation that happened to pick me. I have seen many things through my times at hospitals for annual visits. I remember being in one of the early MRI machines and watching the improvements in research and other medical developments. Sure, things got tough at times but I always maintained a positive attitude. I am very luck to have a “mild” case of Tuberous Sclerosis but still very affected. If it weren’t for such an active lifestyle and healthy diet, I wouldn’t be this “well” off. But through it all, there are still challenges. In my 8th grade year I suffered a grand mal seizure that lasted 90 minutes. I came away with no brain damage but still managed to get the flu. Somewhere up there someone is looking out for me. I haven’t had a specifically labeled seizure event since then. I have things that we are calling “spells” because they aren’t sure. It’s a mix of anxiety attacks and seizures but not bad enough to make me unconscious. It is very frustrating to not know what these things are and know how to treat them. I often think though, my life could be so much worse and I know all us TSC suffers all have things we 1450206_10201859552184922_1568234232_ndon’t understand. The world doesn’t understand. I hope that continues to change.

Of all the challenges, my learning disability has been the most difficult thing for me in terms of this disease. Some days I would remember things and
others I would draw a complete blank. I can’t thank my teachers, professors, coaches, and parents for helping me thus far in life. Since I just graduated from college, it is time to begin the next chapter in life and to learn to live on my own. Throughout my life I have never felt like I wasn’t “normal.” I like to think that God has given me other gifts to make up for me having such a rare disease. I have excelled athletically. In high school I was nationally ranked in the 800m by my senior year and all-American on relay teams. All of that lead to the wonderful scholarship to my respected university, my coach had no idea what my disease was but took a chance on me and I can’t thank her enough. Just because I 31393_1494934937388_733010_nhave a certain disease doesn’t mean I can’t do things like my peers. My parents have been by my side from day 1 but have to slowly pull back because I’m aging and have to take on my own responsibilities. I am both excited and nervous for the leeway. Wondering what will happen next, but I figure if I’ve made it this far. I’m sure I’ll be just fine.

To all those that are younger than me and or parents, I suggest if able get involved in sports. That has kept me healthy in more ways then one and always looks at life positively. Sure times will get tough and you will have breakdowns but just know there is always a tomorrow and another challenge to master. Always surprise. Let’s make the world aware of us.

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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.

My Roller Coaster Life

Second Annual “Blogging for TSC Awareness Month” Day 21

by guest blogger Paula Krischel  (Dwight, Illinois)

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

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

10269590_10203152870534585_7703347996202116662_nThe best part of this disease — it has made my family stronger. NO ONE is not affected by this disease in our family.  My son Josh, does not get to always have a normal childhood because his brothers got sick, had a seizure, or are just off from their autism. Most children are privileged to have both parents go to award banquets, sporting events, and school plays. Not our family. Most days we have to take turns going so one parent can stay home for our other two boys that have Tuberous Sclerosis as well. My husband works very hard to take care of our family and to help out as much as possible when I am having bad days. He truly is my rock, my best friend, and my soul mate.  He does not judge me; he gives me time to spend with friends and helps as much as he can with the boys.  This disorder has put us in many different stressful situations, but with our faith, we always seem to conquer the obstacles one by one.

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

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

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

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

 

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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