Tag Archives: special needs

Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

This year we celebrate 40 years of TS Alliance’s existence.

June 1, 2014 Rebecca Gaunt Leave a comment

Second Annual “Blogging for TSC Awareness Month” Day 32

by guest blogger Susan McBrine (Oregon)

Tuberous Sclerosis.
Words a parent never wants to hear… Or expects to hear. Yet every day, all over the world, parents are still getting this diagnosis for their child, who may be experiencing seizures, developmental delay, autism, kidney and brain tumors and more .

I got this diagnosis for my daughter over 40 years ago and I must say it changed my life forever. I became an informed, determined, assertive researcher, educator and advocate for making sure that I knew and found all there was to know and do to help her achieve her potential. In the process I helped found Tuberous Sclerosis Alliance and tried to help many other famiilies find hope for better treatments and a better life for their children with this disease .

This year we celebrate 40 years of TS Alliance’s existence. The organization has acomplished so much by advocating for and funding research, supporting families and much more. We celebrate, but I am also saddened that many other young moms are also still going through what I did to get treatment and diagnosis. I am saddened that tuberous sclerosis exists. Yet, as a mom who has raised a child to adulthood and lost her child to this disease, I am grateful for what tuberous sclerosis taught me about life, love and even her death.

Being a parent of a special needs child is life changing in so many ways, but in my case it changed my career and my perspective on life in general. It made me appreciate little things and focus on what is really important in life.

It also taught me valuable lessons on letting go of a child as she grew. I learned to finally let go and let my disabled daughter have more of life of her own, despite her disabilities. It is very hard, when you miss those developmental milestones that non disabled kids have — when your child goes to kindergarten, off to college, work, marriage — to know when and how much to let go and encourage independence in a child who is basically totally or semi- dependent on you. The need to protect our vulnerable child is great and the tendency to overprotect always exists.

It was hard to step back and stop doing for her and let her do for herself. Dressing herself, going on the bus alone, spending the night away from me at a camp, having a boyfriend, and finally living in a group home with friends. All things other kids may do as they grow up, but for moms like us, whose child needs supervison and support in so many ways, it is hard to let go even a little.

Letting go and teaching independence is important so that we don’t actually encourage dependence without realizing it.

Teaching age appropriate behavior to a 20-year old who would just as soon wear Mickey Mouse t-shirts and play with toys, that she is a young adult and must dress and be treated as a young adult is hard. I learned how, with help from many in her life, and from her.

I also was pleasantly surprised by how well she adapted to life in a group home at age 27. I thought she’d miss me so much I’d have to bring her home in a week. Nope! She flourished with her newfound independence and social life with her housemates — something I couldn’t give her at home with just the two of us. I also couldn’t continue to give her 24-hour care while I had to work and sleep. She got fresh caretakers every eight hours who weren’t tired, cranky or had other things to do.

What is hard for parents to admit as we get older (and we will) — the 24-hour care taking can be too hard without help. And the time will come when we can’t do it any more due to our age or illness.

We have to really be realistic about helping our child find a place in the world as an adult without us while we are still around to help them transition. It’s harder if we die and they experience the grief of missing us and have to transition to a new home. That is the letting go and the transition we all worry about the most. We worry no one else will care for her or him as we do.

As a special education teacher of young adults 16 -22, I often heard parents say, “She can’t or won’t do that at home. How did you get her to do that?” Some of my students had very low ability, but were able to work with some support and could learn to do things like cook, load dishwashers and do laundry for themselves. Things their parents didn’t let them do because they thought they couldn’t. It’s always amazing what they can do when we let go. I learned that my very delayed and disabled daughter could do so much more than I ever thought or would have allowed her to do until I learned to let go some!

Every child is different and every state and family has different resources available, but it is something to think about for every parent.

Teaching independence and letting go is something to do gradually. After all, we all want all of our children to be happy, have a social life of some kind, to experience love and friendship, and to be able to support themselves in some way. They can’t do that if we dont teach independence and responsibility to all our children.

Stacia taught me much in life. Tolerance, patience, unconditional love, selflessness and how to see the world through her eyes. Her life was a gift to me in so many ways, although battling her disease was also hell in so many ways.

I am grateful for the support the TS Alliance gives parents today, and for the hope that all our children with disabilities will have better lives to live and increased opportunities to do so in today’s world. We can all help them by increasing awareness of not only TSC, but of all those with disabilities and their need for acceptance, employment, education and a place in society.

Please see Susan’s contribution from last year’s blogging event about the founding of the TS Alliance.

From Becky (Mixed Up Mommy): Thank you so much to everyone who contributed this year! It has been a pleasure to share your stories and read your personal or your child’s triumphs. I leave you with some artistic contributions from TSC warriors.

Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

A Parallel Universe

May 29, 2014 Rebecca Gaunt 2 Comments

Second Annual “Blogging for TSC Awareness Month” Day 29

by guest blogger Sara Weathersby (Decatur, Georgia)

At a UGA football game circa 1999. — At a UGA football game 1998 or 1999.

Unlike many who have blogged about TSC, I am not diagnosed with it or caring for someone who has the diagnosis. I became aware of TSC and the havoc it wreaks through my friends Becky and Chris and their son Connor. Becky and I went to college together and remained friends in the following years. We were delighted to find out we were pregnant at the same time. Connor was due just a month before my second son, Malcolm. My older son, Max, was a young toddler at the time, so I would share product recommendations and advice with Becky over the next several months.

One day, Becky told me that the doctors found something irregular with Connor’s heart on an ultrasound and were going to observe him more carefully and call in a specialist to examine him once he arrived. I honestly, confidently believed with every fiber of my being that the doctors were being overly cautious. If ever there’s a time for doctors to be so cautious, it is certainly when the health of a baby, particularly my friend’s baby, is at stake. Neither of us were very worried as we talked about ponytail holders and chapstick going into the bags to go to the hospital.

When Connor was born, Becky and I texted back and forth. The delivery went well and she and Chris were just waiting for the nurse to bring him back to them after some observation. They waited to hold and cuddle their precious new son. I waited for the obligatory pictures to pop on my phone. They waited to gaze into his eyes and memorize every inch of his perfect face. I waited to hear once and for all that everything was great.

Becky's wedding reception 2010. — Becky’s wedding reception 2010.

But it wasn’t great. While in the nursery a nurse noticed Connor was having a seizure. While Becky and Chris waited, the nurses and doctors were trying to figure out what was going on with Connor and how to treat him. They diagnosed him with TSC and kept him hospitalized for a month. They determined that he would need neurosurgery to remove a tuber from his brain to hopefully stop the seizures. The doctors expected him to have developmental delays but didn’t have a clue what that would look like.

This is not the kind of thing that happens to me or my friends. We work hard, pay taxes and make good choices. How could this be happening? How could someone that I know and love have to go home from the hospital without her baby? What could I possibly say to Becky and Chris? I certainly had no “been there, done that” mommy advice to offer.

Somehow, Becky and her family were absorbed into some kind of parallel universe where you don’t get to room in with your newborn and take him home to his new nursery in a day or two. Instead, my friend stayed at the side of her baby’s incubator surrounded by tubes, wires and machines that allowed the doctors to best figure out a plan for his treatment.

Meanwhile, I’m waddling around, near the end of my own completely healthy pregnancy with my completely healthy son. I wondered what in the world I had to offer this friendship while Becky was going through so much. I felt a strange sense of guilt and sadness. All the while I shared in Becky and Chris’s joy that their son was born.

Sara's wedding 2009. — Sara’s wedding 2009.

If I was feeling all these emotions, how much more intense it must have been for Becky and Chris! I grieved for all the expectations, spoken and unspoken, I had for this new phase in my friendship with Becky. We were both moms now and our sons were supposed to play together. But what now? How was TSC going to change our friendship? I determined that it was better to show up not knowing exactly what to say or do and risk putting my foot in my mouth than to do or say nothing. Becky and Chris sat in that parallel new parent universe where nothing comes easy. They were so sad that Connor was having seizures and had been diagnosed with TSC but yet overjoyed to have a son. They were devastated that there son is not typical but hopeful that his growth and development will come along such that TSC will not put any limits on what he can do.

In the universe I’m accustomed to of course parenting is tough and an emotional roller coaster. In the parallel universe where Becky is, it seems more intense. There are more doctors and appointments to keep, more worry, more money to spend, more resources to find. Everything is just more. Meanwhile, my own little one made his way into the world and disrupted everything in just the way you expect. How do I step into this strange place where Becky and Chris are without sounding trite or lacking compassion?

It actually turned out to be pretty easy to be maintain our friendship. We just kept texting and talking about our boys. Connor’s milestones look different

Connor in the cow costume, Malcolm as the monkey, Max as the big pirate, and their friend David the pirate.

from Malcolm’s. Connor has to work so much harder to get from milestone to milestone, but he’s doing it. I was afraid Connor’s diagnosis would put awkwardness in my friendship with Becky because I just wouldn’t understand how different it is to parent a child with special needs. When the boys play together (as much as they do as young toddlers) it’s clear that Becky and I have a lot more in common as moms of toddlers than there are differences in parenting a special needs child and a typical child. The fact that Connor has special needs actually didn’t alter our friendship all that much. Perhaps that’s because Becky and Chris love Connor so completely and have managed to accept that TSC is a part of their lives now. They haven’t let TSC cast a shadow on their lives or rob them of the joy of parenting. They have made it easy to ask questions about TSC and what it means for Connor.

As the months went by, I started to realize the idea of the parallel universe where families with special needs children live wasn’t really accurate. We buy the same diapers, and clothes for our kids.

Malcolm doesn't mind crawling around with Connor, even though he can walk already. — Malcolm doesn’t mind crawling around with Connor, even though he can walk already.

We live with the same healthcare system. Instead of thinking of families with special needs children living off and away somewhere doing mysterious special needs things they don’t want people like me bugging them about, they’re actually at the same Target store I go to. We live in the same world but unless you know someone whose child is ill, you can keep going along in your own circles and never hear the stories of these families and their precious children.

In Georgia, we recently had an opportunity to legalize medical marijuana for children with seizure disorders. Our state representatives failed miserably to pass the very popular bill. This experience made it clear to me the importance of raising awareness of TSC and the reality faced by families with special needs children. Just because a policy, or law or healthcare plan works for you or at least doesn’t hinder you doesn’t mean that you don’t have a voice in improving the lives of our most vulnerable children. Those of us who are blessed with healthy children owe it to our friends, relatives and the people in our communities who are raising special needs kids to keep investing in those relationships even when, and especially when, a child is diagnosed with an illness or syndrome. We can make our healthcare system work better and our government more responsive. But first, we all have to be aware.

In the dorm -- Myers Hall at UGA -- in 1998. — In the dorm — Myers Hall at UGA — in 1998.

Both pregnant at Becky's baby shower 2012. — Both pregnant at Becky’s baby shower 2012.

Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

I believe that the baby you have is the baby you are DESTINED to have.

May 26, 2014 Rebecca Gaunt Leave a comment

Second Annual “Blogging for TSC Awareness Month” Day 26

by guest blogger Samantha Wiemuth

Zander was born June 25th, 2004. He was 8 lbs 13 1/2 oz and 20 inches long. He seemed healthy and happy. We were so excited he was finally here since he made us wait an extra 10 days to arrive! In the first week of being home, he was down to 8 lbs., and we had to feed him through a syringe and a dropper until he was strong enough to suck on his own. Within the next few days, Zander gained all his weight back and he was healthy again. A few months later, Zander started dropping his head into his arms when he was in his johnny jump up. My sister and closest friend KNEW he was having seizures and told me to make a doctor appointment, I thought he was just playing, but we took him to the doctor just to be sure. On November 30th, we met with a neurologist. We told him about Zanders episodes and that my husband Jamison had a disorder called Tuberous Sclerosis. We were worried Zander could have this too. The doctor told us to come back in the morning for more tests and a sleep study.

That next day was one of the worst days of our lives. Zander was diagnosed with Tuberous Sclerosis and infantile spasms. My world came crashing down, but I believe that the baby you have is the baby you are DESTINED to have. Zander was meant to be my child, and I was meant to be his mom. Over the next few days, we learned Zander had been born with Tuberous Sclerosis. He had tumors on his brain and heart, lesions on his eyes and kidneys, angiofibromas on his face and ash leaf spots on his body. This rare disorder happens in only 1 of 6,000 live births. I was devastated thinking I did this to my baby!

The medicine we needed to treat Zander was NOT FDA-approved in the United States yet, so we had to order it from Canada. As Zander grew, so did his seizures. They became harder to control and more aggressive. The damage from the infantile spasms and seizures caused delays in Zander’s development. Despite all of this, Zander had this amazing spirit, and we celebrated everything he was able to accomplish. He said his first word at 11 months old. He started walking at 2 1/2, just in time to go trick-or-treating with me, hand-in-hand!!!! He started school at age three, and by this time he was having 5 to 10 seizures each day. He was on three seizure medicines and one emergency medicine. After one especially hard day, I called a friend for support, and she suggested that I take Z to see a chiropractor. She knew of a great lady with a gentle touch, and that I should just give her a try and see what I thought. I had been so worried about taking him to the chiropractor since he was so little but I was desperate and didn’t want him to get worse. I was ready to try anything! Zander started going to the chiropractor three times a week for a whole month of September 2008 straight. At the end of that month, Z had a huge seizure. When I called the doctor they said he was toxic (He was toxic because the adjustments got his body aligned and his blood flowing correctly to the brain). It was too much medicine flowing through his body) and we needed to take him off two medicines all together and reduced the other one by half!!!! It was AMAZING! I couldn’t BELIEVE we were taking him OFF medicines and not adding more!! Zander then was seizure-free from Oct 2008 until June 2010.

In June 2010 my husbands job transferred us from Wisconsin to Texas. I was lucky enough to find the Texas Scottish Rite Hospital right away a few months before we moved here. The TSC clinic has been such a blessing to our family. We had to find a new chiropractor though, and we were lucky enough to find the perfect one on the second attempt. After we found Dr. Eric Alvarado in Arlington, Z started to be seizure free again about January 2011!!! He has only had about 15 seizures in the last 4 years. He is only having them when he is overheated or when we travel more than ten hours straight. As he continues to grow, we are reminded every day what a strong and amazing young man he is and what a blessing he has been in our lives. Zander still struggles everyday with controlling his behavior, physical activity and academics.

So, when he turned 7 (2011), we decided to submit him to the Make-A-Wish Foundation. We were hoping for some relief and to be able to do something fun! Zander was so excited he picked out two wishes just in case they weren’t able to grant the first one! He wished to be a Zookeeper and his second wish was to be paleontologist!!! When his wish granters came over, they made an instant friend when they gave him a huge dinosaur and cupcakes! They were so great and kind with him. Since Zander had been approved to receive a wish, Make-A-Wish has included Zander in every activity they have for his age group. We stopped by the Fort Worth office and Zander received a huge warm welcome and even more gifts. We went to Brooks Brothers to get fitted for suits for the Make-a-Wish Gala event and he received even more gifts and treats. They were all so sweet and accommodating to our family. Zander has truly been treated like a king and I’m so overwhelmed with gratitude for everyone at the North Texas chapter of the Make-A-Wish Foundation!!! Then May 26th 2012 was Wish Day!!!! They Took
him on an AMAZING scavenger hunt and then topped the rest of the day off at the Dallas Zoo!!

After his Wish things went back to normal for a while. He was doing well, no seizures, behavior wasn’t too bad, and life was good. Then March 24, 2013 our world was turned upside down. My mother passed away unexpectedly. This was horrible for Z; he was very close to my mom. He stopped sleeping, stopped eating, started have bad behaviors. I did everything I could think of to help him: therapy, let him sleep with me with out arguing, went to two hospitals. Then we got him on new behavior medicine which ended up with him being suicidal. It was the worst year ever. Finally we got him off those medicines and into more therapy and with some healing he is doing better. His seizures are controlled with weekly chiropractic adjustments and seizure meds. I am thankful my son is alive and well today!!

Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

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

May 25, 2014 Rebecca Gaunt Leave a comment

Second Annual “Blogging for TSC Awareness Month” Day 25

by guest blogger Becky Ruppe (Cumming, Georgia)

I 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 having 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.

We 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…

Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

From Reflux to TSC

May 20, 2014 Rebecca Gaunt 3 Comments

Second Annual “Blogging for TSC Awareness Month” Day 20

by guest blogger Melissa Marino (New Orleans, Louisiana)

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

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

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

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

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

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

Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

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

May 18, 2014 Rebecca Gaunt Leave a comment

Second Annual “Blogging for TSC Awareness Month” Day 18

by guest blogger Sarah Burton (Highland, California)

Our journey with TSC began on November 3, 2012. When Jackson was 3 months old, he had his first seizure. His
eyes rolled back and his body fell limp. I just remember holding him up and crying to my husband, “What’s wrong with him!” The pediatrician said it didn’t sound like a seizure and to monitor him at home. The next afternoon he had another episode, so went immediately went to the ER. They admitted him right away, and he had four more seizures that night. He was pumped full of Phenobarb, which quickly controlled them. After a normal EEG, an MRI was ordered and we were diagnosed with Tuberous Sclerosis Complex.

We experienced all the normal reactions…disbelief, anger, sadness, confusion. Those feelings did not go away for a long time, and some still linger. After four days in the hospital, I came home with Jackson. I walked into our bedroom, looked at his bassinette, his baby calendar, and felt an immediate sense of loss. I was lingering in this dark fog between life before the diagnosis and life after the diagnosis. Nothing of Jackson’s looked real or familiar.
It was a horrible feeling.

As I was attempting to deal with this news, I was comforted by my amazing family and friends. Everyone wanted to help, to reach out, and to be there for us in any way they could. But it wasn’t enough. No one would ever begin to know what I was going through, what I was feeling. Our lives were forever changed overnight, and I needed to find a way to cope. I needed to stop looking at my son and seeing only the disease. I needed to stop looking online where all I seemed to come across was devastating information. I needed to find someone who understood my pain.

About three months in, I found Inspire. I starting reading other people’s stories, other people’s struggles with TSC, and it brought me closer to a human connection that I desperately needed. I reached out to a few people, asked some questions, and it felt good. But it wasn’t enough. I still felt alone, like all I could think about was the disease, and Jackson’s future.

I had Facebook, but never used it for anything relevant. I decided to try and search TSC. And I found Becky and Connor. A mother and her son with TSC (who reminded me so much of my little Jackson). Her stories of the struggles and triumphs with TSC had a funny, sarcastic twist which brought some much needed humor into my world. It was a reality that I could relate to. That’s what I needed. I needed someone to walk along side of during this journey, someone who understands. I had plenty of people in my life who sympathized with me; I needed someone who could empathize. I continued to search out TSC on Facebook, joined the TS Alliance group, and connected with more and more people. I found an amazing group of women, viewed pictures of their beautiful families, and read their stories. I saw the faces behind the disease and finally began to accept that this was our new normal. Two of the pieces of advice I was given: “do not let TS define your child” and “one day at a time” still guide my daily attitude.

When my first born Isaac was two years old, running around and getting into everything, I must have expressed exhaustion to my mother. She said, “Honey, you want your child to be getting into everything, that’s what they are supposed to do.” She then told me about her friend who had a special needs child who was not “getting into things.” I think about that conversation all the time.

Jackson is now 21 months old. He is mobile, but not walking independently yet. He can crawl, pull up and cruise really well. He is finding his balance, so we hope to be walking soon! We had seizure freedom for seven months, but this past November his infantile spasms came back with a force. We have tried numerous meds, Prednisone and ACTH, but nothing has worked. It has taken a toll on his development. We have a wonderful neurologist at UCLA who we absolutely love! We will start testing in two weeks to see if Jackson is a candidate for surgery. But our story does not end here, this is only the beginning. My sweet Jackson. He gives the best hugs and kisses, and when I smile at him, he smiles back. That’s all that I could ask, for my son to be happy and to feel loved.

So “thank you” to all of you, my “virtual” friends and TSC family. You ultimately helped me cope; you are what I needed. Thank you to my amazing husband Caleb, and my two other beautiful children Isaac and Ava, who help me on a daily basis take the best care of Jackson possible. We are so fortunate to have a close knit family and circle of friends, who lift us up with their constant outpouring of love and support. Another TS mom emailed a video that included the following quote. For all of the TSC fighters and their families, for a cure one day…

“Love is just the antidote when nothing else can cure me.”

Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

This Can’t Be.

May 17, 2014 Rebecca Gaunt 1 Comment

Second Annual “Blogging for TSC Awareness Month” Day 17

by guest blogger Kelsey Hudson (Moon, Pennsylvania)

My husband and I got married in October of 2008, and in January of 2009, I found out I was pregnant with our first son, JJ. Everything was going good, I didn’t have any morning sickness and then it all hit me around four months. We went in for a regular check up and they said, “We need you to go to see a cardiologist.” I was beside myself. What do you mean a cardiologist? There’s nothing wrong with my heart.

They explained to us they couldn’t see all of the chambers of JJ’s heart. When we had our first cardiology appointment we found out that JJ may have a heart problem. After going for an echocardiogram 11 times throughout my pregnancy and my regular appointments, they labeled my pregnancy, “High Risk.” I was shocked. I was sad. I didn’t understand why. How could this be?

My pregnancy was depressing. I tried to stay happy, but there was so much back and forth with his diagnosis because the cardiologist told us there was so much shadowing with him still being in my belly, that they couldn’t tell everything. This made me even more sad and mad. How could my baby have this? I had to drive over an hour to each appointment one way.

August came and they said, “We are going to induce you.” They prepared us that JJ could be in the hospital for a few months after he was born. We had everything set up with Ronald McDonald house, and my mom was prepared to be there through everything so my husband could keep working after JJ was born.

September came and they induced me. I was in labor, for what seemed like days! Then September 5th came and my beautiful baby was born! They had an echo done right away and came in and said they wanted to do one more before we left. “Before we leave?” I asked. The doctor came in and told us during pregnancy they thought JJ’s heart condition was a cor triatriatum, and after him being born and more echos they found out he had a left SVC. (Not as serious!)

I was scared! Scared you tell me my baby is going to have all these problems and now he can go home after almost a week? Of course I was happy too! After we discharged we continued going to see the cardiologist. When JJ was one month we moved to Pittsburgh, PA. We were here for not even two days and he started having breathing problems and GI problems.

Long story about JJ short, we were in the hospital 27 times in his first year and a half. He had many GI issues, pneumonia three times, a hernia surgery, nine ear infections, tubes, he went into Failure to Thrive and was put on a special diet with soy drinks to get him back to a normal weight. Around the age of 2 ½ everything started to settle down with JJ. He still goes to cardiology and has his regular pediatrician check ups, but all in all hes a happy, smart, loving, caring, and sweet boy!

My husband and I said we would never have more kids. This was crazy everything we went through. And so far away from family! We have no family in PA; they are all in Florida, Virginia, and Nevada. So it was definitely hard. He was working all the time and I was at home. I would work night shift when he would get home.

We had a blast with JJ. He was the light of our life! We started having fun, and doing things as a family such a little trips and whatnot. JJ loved other kids. I always thought about how he would be as a big brother, but never thought I would get pregnant again.

When JJ was 3 ½ we found out I was pregnant. I said WHAT? I was happy, but SO SCARED. I started going to my first appointments and told them all about JJ and my pregnancy with him. So right away they said, “We need you to see a cardiologist for a few echocardiograms while you are pregnant.” Immediately I thought, really, again? I can’t stand to see another baby go through so much. I was praying everyday he was fine.

We had our first echo, and they said we need you to come back because we can’t get good pictures of his heart right now. So between waiting and the next appointment, I was freaking out everyday. We had a second appointment and they said, “Ok guys, everything is fine! He is a healthy baby boy!”

I cried! I was so happy! I was ready to have a “normal” pregnancy and get excited about having a family of four. We decided to name him Wyatt! Things were great. We continued working separate shifts, and that way JJ was always with us and doing fun things! He did go to a little preschool for a few hours a week, and really enjoyed that.

All in all, my pregnancy was good. I had a few pain issues and some other minor things, but my boss was a good friend and she let me take it easy at work. I then hit my 39 week mark, and nothing. No baby yet. JJ was born a few weeks early. So I was ready to have Wyatt! They told us I was going to be induced. I hit 40+ weeks! I went in on a Tuesday night and they induced me. I had Wyatt at 11:54 am on Wednesday, and around 5 pm that day I was feeling on top of the world. I asked to go home, haha!

They said if you feel good enough you can go tomorrow. So I went home Thursday morning. I had to take Wyatt to the pediatrician on Friday because technically he was leaving the hospital early, and they wanted to check on him and his weight! He was born 8.4, my big boy! Things at home were going great, and around three weeks old, Wyatt started breathing very noisily. We called his doctor, and they said take him to the emergency room.

I was scared again! Thinking, oh please no, everything is good, everything with Wyatt is supposed to be fine! Nothing should be happening. So, at 2 am I took Wyatt. They checked him out, and told us he had periodic breathing. We were told not to be too concerned and to keep an eye on him but to make sure to get him to cardiology to have a double check, because of his brother’s heart history.

I didn’t even know what to think. I was in tears. My husband and I were so scared. September 30 came and JJ and Wyatt had Cardiology appointments. They did an EKG, and echo for JJ, and said he’s looking great. We want him to have a MRI around 8 years old. But for now we can stick to his yearly echo’s and checkups! Then came Wyatt’s turn. We thought oh this is so crazy, and silly. He’s fine.

His EKG was abnormal. My heart stopped. His echo showed four tumors in his heart. We were speechless. At this time cardiologist didn’t have any idea what these tumors were or if they were a sign of anything. He said three were small and one was big. They had another doctor read the results and go over things before they called us back in to talk to us.

We were told to come back in one week for a 24 hour halter monitor. Then after we did that, he had a sedated three-hour MRI of his heart, a scope down his throat and met with an airway specialist. That three hours was the longest of my life. At this point I had no idea what was going on with Wyatt. On Halloween of 2013 we were told we needed to see genetics because they believed Wyatt had major signs of Tuberous Sclerosis Complex.

Tuberous Sclerosis Complex? Is this real? I have never heard anything about this disease before. Of course I Googled and that was when it all hit me. My mom and best friend did a lot of research with us, trying to make sense of all of this. How? Why? Again, Why? Not my Wyatt! They told us everything was ok.

After seeing genetics and doing the blood work, we found out Wyatt had TSC. His mutation was TSC2. My husband I were tested and we were both negative. I don’t even know how I felt at that moment. The weeks we waited to hear about the blood work we kept saying, no, yeah right, not Wyatt, everything is ok. Wyatt has ash leaf marks on his skin, but we thought those were birth marks! I felt so stupid for not seeing any signs.

It feels like we have been through so much in such a short period of time. From August 21, 2013 to January 11 2014, we had been to so many doctors, finding out so many new things about TSC. They also had Wyatt getting the Synagis shots for RSV once a month for five months, to help protect him from getting RSV.

January 11, 2014, Wyatt had his first seizure. JJ was sitting next to him, and I was folding laundry. JJ was scared and so was I. We called his doctor, and we went to the hospital right away. He stayed for four days. He had an MRI of his brain andwas on an EEG the whole time he was there, except when he had the MRI. I was so sad. I couldn’t believe what was going on. He was put on a seizure medication and after four days we went home.

When I got home I was afraid to even leave the room or set him down. I didn’t want anything to happen and I didn’t want to miss anything either. About a month went by and we started seeing him having infantile spasms. This was something they warned us and talked to us about. But again, I never thought Wyatt would have them.

He stayed in the hospital for three days this time. And they put him on another medication. These were the hardest to see him have. JJ was going through a lot watching his brother go through so much. How do you hide that from a 4-year-old who is very curious about everything? I couldn’t. I also didn’t try to explain everything to him — I just let him ask questions and we would try our best to answer and make him feel better.

So now we travel to Cincinnati Children’s Hospital, which is about five hours from where we are to see Neurology there. We LOVE THEM! Wyatt has PT and OT, and now they added a developmentalist. Wyatt is weaning from a med right now that they believe has caused some of his delays. They are having him wear hand splits to help spread out his fingers and make more room for him to use this thumbs.

Ophthalmology found a tumor on his retina, and during his check up they said he was near sighted. He is a strong little guy! And smiles all day everyday! He just started sitting about two or three weeks ago all on his own and strong! He will be 9 months old on May 21. He is my WARRIOR! And JJ is my sidekick! Its hard going through all of this everyday.

I cry, I get sad, I get mad. But at the end of the day, I always smile because I have both my boys at home with me. My husband and I live for the nice days to take the boys outside with our dogs and let them be in the fresh air!

What a journey it has been and looks to be.

I just want to know Wyatt will be ok. And I feel that no parent should ever have to ask or worry about that.

Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

I wouldn’t change her for anything.

May 14, 2014 Rebecca Gaunt 1 Comment

Second Annual “Blogging for TSC Awareness Month” Day 14

by guest blogger Amy Dublinske (Kansas City, Missouri)

Every Mom dreams of having their first born daughter. They dream of their first steps, first birthday, first kiss, first prom, first love, and their wedding day. Pregnancy is an exciting time. The anticipation, planning, preparing the room, sonograms, baby showers, and the much anticipated birth. NO ONE EVER dreams of fetal stress tests, rhabdomyomas, SEGA tumors, brain MRI’s, seizures, open heart surgeries, testing, treatments, or brain surgeries. NO ONE DOES. To say that “hearing the words “Tuberous Sclerosis” uttered for the first time is a not a dream but a nightmare,” would be a gross understatement. My story begins at 34 weeks of pregnancy with my first born daughter, Kierstin.

It was April 2nd, 2005 when I walked into a Level Two Sonogram feeling “On Top of the World.” I left feeling an overwhelming amount of fear, stress, and pain. An indescribable, immense fear that I have never encountered before or again since that day. Before I knew it, we were being rushed to Children’s Mercy Hospital for further evaluation by the Chief Cardiologist. Though his English was broken, the one thing that was abundantly clear in any language was his words “we hope it is not Tuberous Sclerosis. This is a very grim diagnosis.” The next four weeks are a complete blur as we tried to live in a state of denial, but reality set in very quickly. Kierstin was born on 05/05/05. She was induced with the anticipation of open heart surgery given large rhabdomyoma tumor growth. Though her heart was more stable than initially expected, we quickly received the dreaded diagnosis of TUBEROUS SCLEROSIS. All of her organs were affected at birth. We were devastated beyond words!

When researching TSC and talking with other families, I remember hearing things such as “most children don’t have SEGA tumors, most children do not have eye involvement or kidney involvement at birth, etc. We learned that Kierstin had two SEGA tumors, she had eye lesions at birth in both of her eyes and several kidney tumors when she was an infant. Due to relentless seizures starting at eleven weeks she had two rounds of brain surgeries. She has been diagnosed with TSC2 which we believe was a spontaneous genetic mutation. Once the seizures were controlled, we began battling the developmental delays and behavioral issues associated with TSC. Life with TSC has most definitely been a roller coaster ride with many unexpected twists and turns. If I had a dollar for every time someone has said to me “You are such a strong person, this must be why you were chosen to be Kierstin’s mom.” Being strong is the ONLY option. We refuse to allow TSC to define our daughter, but sometimes the twists and turns of this roller coaster are more than even the strongest person can handle!!

Parenting a child with special needs had been the most difficult challenge of our lives, while at the same time quite possibly the most rewarding aspect of parenting. Some days I become frustrated that I have a nine-year-old who still puts toys into her mouth, cannot bathe herself or cannot button and zip her own jeans. But that level of frustration is not even comparable to the amount of pride I felt the first time I heard her say the Pledge of Allegiance, sing the National Anthem or score her first goal in soccer. Still to this day, listening to Kierstin read me a story brings on the “Ugly Cry.” We were told by doctors that she would never walk, talk, run, or sing. How can she possibly be reading me a Chapter Book? She is without a doubt a true miracle and we thank God each day for choosing us to be her parents. No one chooses TSC! No one wants their children to be born with medical and developmental challenges! But at the same time, as much as I loathe TSC and the challenges we face because of it, I feel blessed because of the positives. I have met some of the most wonderful people through the TS Alliance staff, physicians, parents battling TSC themselves, teachers, therapists who have given so much to our family and mostly to Kierstin. I have poured my heart out and gained commitments from senators and representatives who have become invested in TSC because of our advocacy. I have provided much support to new families who are walking down the same scary, terrifying path that I did only nine years ago. Because of TSC, I am the co-founder of the Tuberous Sclerosis Alliance of Greater Kansas City. We have raised nearly $200,000 collectively in the past eight years through walkathons, golf tournaments, and other fundraising events. I have discovered patience within me that I never knew existed. I have learned the true meaning of “paying it forward” after so much love and kindness has been shown to us because of TSC. Though my dreams of having my first born daughter are much different than today’s reality, I wouldn’t change her for anything. This journey with TSC is not quite the journey of my dreams. Though Kierstin is the daughter I have always dreamed of and I couldn’t be more blessed!! We Will Give Everything! But Up!!

Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

Our happily ever after felt as if it was being taken away from us.

May 13, 2014 Rebecca Gaunt 1 Comment

Second Annual “Blogging for TSC Awareness Month” Day 13

by guest blogger Heather Lens (Stilwell, Oklahoma)

Madilyn Rae Lens, was born on October 19th, 2012. She was born a perfectly healthy little girl. She was a dream come true! We had no reason to believe that she would be anything but healthy as she hit milestones in her first 5 months of life.

All of those thoughts changed when at 5 1/2 months old she started doing a weird twitch with her arms. I was feeding her and she kept throwing her arms in the air. My mommy instincts went off immediately. Deep down inside I knew something was wrong. Nothing she was doing looked like a seizure to me, but for some reason my mind kept going back to wondering if it was a seizure. After a day of seeing light twitches I took her to her pediatricians office. Unfortunately, her pediatrician wasn’t there so we had to see another provider there. He told me he didn’t think it was anything other than motor reflexes but he would refer us to a neurologist to calm my fears. I left his office that day full of mixed emotions. I was happy that the doctor said it was probably nothing but still had a gut feeling that he was missing something. I had been around my siblings when they were infants and I didn’t ever remember seeing anything like this. I cried the entire way home at the thought of waiting 2-3 weeks for the referral. How could I wait that long for answers? I called my husband and told him something wasn’t right. He immediately left the fire station and came home. That night I consulted the lovely library of Google. Everything I looked at said the term Infantile Spasms. I was sick after reading information about this catastrophic type of seizures. I knew that this is what she had. I cried and told my husband about it and he agreed we would take her to a children’s hospital first thing in the morning. I didn’t sleep a wink that night. My mind was going in all directions. The next morning, while I was getting her ready to leave for the hospital, she had one of the most intense episodes. Her eyes started rolling up and she would cry like she was in pain. We loaded up and headed for the hospital which was two hours away. The car was silent the entire way. I was able to catch a few of her twitching episodes on the way to the hospital . We got to the ER and we were immediately admitted after the ER doctor saw a video of the seizure. Still at this point no one was calling it a seizure they were calling them muscle spasms, which gave me a false hope that maybe it was nothing.

After being admitted she was put through a million tests, blood, urine, MRI, EEG, EKG and probably more that I don’t recall now. After her first EEG it was confirmed that our perfectly healthy little girl was having Infantile Spasms and if we didn’t get them under control immediately it could lead to mental retardation. Those words hit me like a ton of bricks. We were devastated and couldn’t seem to figure out how she could have such an awful type seizure when she had been healthy up until now. After they explained her diagnosis of IS they said they also needed to rule out a rare genetic disorder that can sometimes coexist with IS. They were going to check to see if any of her organs were “marked” with a disease called tuberous sclerosis. I remember being 100% confident that they were wasting their time looking for this rare disease. They already told us she had IS, it couldn’t get worse than that. I recall my mom and husband trying to find information regarding TSC online and I got a little angry at them. I didn’t know why they were wasting their time looking at it because she simply could not have a rare genetic disease along with these seizures. I have no doubt that I was going through denial at that point.

The next day we got the heart wrenching news that she in fact had tumors on her brain and heart. She showed enough signs that she did have TSC. My heart broke into a million pieces that day. At one point I do remember feeling as though life was over. I was terrified of our daughters future. All of the things I had envisioned for my daughter was suddenly ripped out of my hands. We were told that she would be delayed, she may need brain surgery, she may never be able to live an independent life. She may never walk, talk, feed herself. It was all doom and gloom. Our happily ever after felt as if it was being taken away from us.

We left the hospital a few days later and were as well equipped as possible for her new type of care. After two days of taking Sabril her IS disappeared! And about a month of being on Sabril we started to see her personality shine through. Although we still had the fear of this disease. she was showing us signs of hope! We waited and watched her like a hawk, anticipating the next seizure.

Fast forward a year. We haven’t seen a seizure since April 26th 2013. We also have been beyond blessed that all those frightening things we were preparing for have not shown themselves. Madilyn is currently on track with her development and is a month away from starting the weaning process.

The past year has been such a whirlwind. Our emotions have been scattered all over the place. Thankfully we have outstanding family members and community that have helped us move forward with life, and have taken on our cause as well. We have seen an overwhelming amount of support for Madilyn and our family. Without the support and our faith we would be lost. I am so beyond thankful for this past year. She has shown me what it means to have courage and strength. She doesn’t stop fighting for one second, which means I wont stop fighting for her either. She is my little fighter, and my constant reminder of true love.

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Check out Heather’s blog Life with My Princess and her contribution to this blog for 2013’s TSC Awareness Month.

Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

He is happy. He is loved.

May 12, 2014 Rebecca Gaunt 1 Comment

Second Annual “Blogging for TSC Awareness Month” Day 12

by guest blogger Shannon Arndt (Newport, Michigan)

Bladen. For so long Bladen was my imaginary child. You see I had his named picked out before I even met his father. As soon as I heard the name, I knew. This would be the name of my son one day. I envisioned a strong boy, popular, good-looking and with a pretty awesome name. Once I met my husband, Russ, we couldn’t wait to have our first child. We started trying to get pregnant on our wedding night.

My pregnancy had gone pretty smoothly. I worked, ate and enjoyed telling anyone willing to listen that I hoped to have a boy. And as luck would have it, we found out we were having a boy!

Around 31 weeks, I had been running around, arrived late to work and just didn’t feel right. I called my OB and he said to come in. They couldn’t get a good heartbeat and said I was really dehydrated so off I went to the local hospital. There they hooked me up to IVs for fluids and I got to see my baby again via ultrasound. The doctor said everything looked good but wanted me to come back to see a perinatologist. We made the appointment and two days later Russ and I were at the appointment excited to see our baby again.

I remember joking around, laughing, looking at the pictures. Clueless to the technician leaving the room, getting the doctor. The doctor hadn’t said anything, probably because I was talking so much. And then it happened.

Another doctor walked in and said, “How many tumors are there?”

I couldn’t speak, I looked at my husband and we both just started crying. We were handed a copy of a page out of a medical book. Tuberous Sclerosis Complex. Not only our lives changed that day, but I changed.

Our son had rhabdomyomas in his heart. Tumors that were growing in his little heart. For six weeks, I was monitored twice a week by high-level ultrasounds. Waiting, waiting to find the right time. I spent my time scouring the Internet for any information and crying, mourning, worrying, feeling toxic to my own child. Timing was key. We wanted him to grow and not have other complications, but not too long or he’d go into heart failure. At 37 weeks, it was time. His heart started developing fluid around his heart, a sign of heart failure.

The next day, with about 20 doctors in the room, I had a 8lb 2 oz, 21 1/2 inch long baby boy. His heart? Well, I literally squeezed the fluid out!

At 5 months, he had his first seizure and shortly after, I quit my job.

I’d spend most of my time going to doctor’s appointments, playgroups, play dates, swimming, anything that would help my son.

12 months, he crawled.

16 months, he walked.

He went to OT, PT and eventually speech.

He’s had numerous EEGs, overnight EEGs, MRIs and ultrasounds.

He went to a special needs preschool at 2 1/2.

A month before he turned 5, he was potty trained!

Two weeks after, he also had brain surgery to remove a SEGA brain tumor.

He started mainstream Young5 with a para-pro.

Then was diagnosed with ADHD.

He started mainstream Kindergarten with a para-pro.

Then was diagnosed with anxiety.

He is currently in mainstream 1st grade with a part-time para-pro for his anxiety.

And, he has made honor roll every quarter so far!

He has friends.

He is happy.

He is loved.

We still have bumps in the road. We are currently watching another SEGA brain tumor; he has MRIs every 6 months to monitor. He has a lesion in his eye, cyst in his kidney, tumors still in his heart, epilepsy, ADHD, anxiety, speech delay and with Tuberous Sclerosis Complex, the list will grow.

However, he’s been seizure and seizure med free for a year and a half. He is currently unaffected by the lesions, cyst and tumors in his body – meaning, he is not suffering.

Bladen is a tall, funny, handsome, smart, loving 7-year-old boy. And just as I imagined before he was born, he is STRONG.

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