Tag Archives: EEG

You can get Epidiolex in a month if your definition of a month is 210 days to years.

Connor had a 48-hour VEEG a few weeks ago. It was awesome. Instead of waiting weeks and weeks to get into CHOA, we were given the option to use a company that comes to your house and hooks everything up. No hospital! God, it was beautiful. We had received the basic results, but recently had an appointment to discuss it more in depth with his neuro. I’ve been confused in documenting his seizures recently because they often have elements of his typical complex-partials, as well as his tonic-clonics. The EEG confirmed that his CPS (which are in one area of the brain), then generalize to the rest of the brain resulting in clonic seizures. He has a couple hot spots and it seems like every EEG seems to indicates a tradeoff in which is doing the dirty work. This time they all started in the right frontal lobe in the spot where he had surgery when he was four months old. Greeeeaaat.

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This is not to say the surgery was not done well or wasn’t successful. It made a huge difference in reducing his seizure activity. That removed tuber was the reason Connor spent 37 days in NICU at birth. But sometimes the area left that surrounded the tuber can still trigger activity. This means a second surgery to remove more of that area is an option. But the doctor already knew we weren’t interested in exploring that route, not before we try medical cannabis. Connor is currently being considered for a compassionate use trial of Epidiolex, the GW pharmaceutical using extracted CBD.

We’ve been somewhat quiet about that because we already got disappointed once. Despite Rep. Sharon Cooper and Sue Rusche of National Families in Action swearing up and down during  the last Georgia legislative session that we could all get into the clinical trials WITHIN A MONTH! JUST ASK YOUR DOCTOR! it was confirmed quickly what the families already knew. That’s. Bull. Shit.

Many families never had a shot at the trials being conducted by GW. They are focusing on Dravet and LGS. Plus, there is a lot of exclusionary criteria, such as having additional diagnoses. Many tried. Many were told no. One of those children, whose mom was assured she could get it, has since tragically passed away due to a seizure. He didn’t qualify.

Connor only has a shot because there happens to be a compassionate use trial here that isn’t limited to those two diagnoses. But it is very small, very expensive for the doctor and very complicated for a doctor to take part in due to the schedule 1 status of cannabis. So, sure, you can ask your doctor to look into this, but don’t hold your breath. However, the first time we thought we could be included, we found out Connor was excluded by GW because of his age. His doctor has since submitted paperwork to expand the age requirement and we are holding our breath for it to be approved. Sooooo, a month? Let’s see, the legislative session ended in March, so it has been at least seven since we were all told a month. And Connor is damn lucky he even has a shot at taking a part in such a small trial. Cross your fingers for him and us. Everyone else can just move to a legal state, break the law or wait the years it will take for Epidiolex to hit the market (and then hope that formulation is the one that will actually help).

Realm of Caring is also about to start shipping Charlotte’s Web, the the high CBD oil, made famous by CNN’s Weed with Sanjay Gupta. So the CBD options are slowly and fantastically coming our way, but should Connor be one of the cases that requires a different ratio of THC, we will either need to move to a legal state or hope Georgia can pass legislation in 2015 that will let us get what we need. The comfort level with CBD has skyrocketed nationwide, but THC is still demonized despite the fact that it is needed to treat many medical conditions. For now, we are hopeful that Connor will be one of the patients that responds well to CBD without the need for tweaking the ratio. It also remains to be seen how shipping the oil will play out due to the legal gray areas, especially for people in states with no legislation on the books. Certain politicians and people with authority think we should all settle for their word that they won’t prosecute us here. But tell that to Angela Brown in Minnesota who was recently arrested for giving her son CBD oil.

We’ll just be gnawing our fingernails, waiting to hear about the trial. Connor’s been having more seizures at night. His Emfit monitor was malfunctioning the other night (we were advised to adjust some settings which seems to be doing the trick), and now that I’m used to having a monitor that will alert us to convulsive seizures, I couldn’t sleep knowing it wasn’t on. I tried to sleep with Connor in the guest bed, but moving him woke him up and for the next hour and 15 minutes he appeared to be on speed. We played several rounds of “Got Your Nose” Scarface style –him grabbing mine, not the other way around. The bed and my head also made for equally sufficient trampolines. I finally gave up and had to put him back in the crib where he entertained himself for at least another hour. Life with epilepsy, ya’ll.

If you are interested in putting yourself on the wait list for Charlotte’s Web, go here

 

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A night in the hospital.

There has been a lot going on lately. Last Sunday I attended the celebration of life for Trinity Sumlin. I met her mother Sheryl when we were fighting for medical cannabis and HB 885 during the last Georgia legislative session. A couple months after HB 885 failed to pass — thanks to political gameplay, not lack of support — Sheryl took Trinity to Colorado to treat her. They were one of the families I shared about in this post. But sadly, Trinity passed away September 5. She was only 11. I was honored that Sheryl asked me to write the story to go in the children’s book she wanted to pass out at the celebration.

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Connor’s seizure activity has been up and down. We really don’t see much activity in his waking hours, with the exception of little myoclonic jerks of his arms or sometimes his head. But all his complex-partial and tonic-clonic seizures are sleep related, so those happen during naps or at night. He’s also had a couple strange incidents in which he was not having obvious seizure activity, but he was weak and lethargic as though he had. Sometimes that has lasted several hours which concerned us. On Friday he was like that all day. Sometimes he’d start to perk up, only to decline again. He couldn’t sit on his own or even support his head. I slept with him on Friday to keep an eye on him. By midnight he was raring to go and things looked promising. Saturday morning he wasn’t quite as perky, but he did eat breakfast well (the day before he had no interest in drinking and eating) and was laughing so we thought it would turn out to be a normal day. Chris’ parents were in town and we all  had plans to go to the North Georgia State Fair. This is how the day started:

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As you can see, Connor looks less than enthralled. The one ride I took him on I had to hold his head to keep him from slumping over. We had never had two days of this before and all I could think was that there was some subclinical seizure activity going on (for those who don’t live in the world of epilepsy, that means seizures that appear on EEG but don’t cause visible activity). We called his neurologist’s office and his actual neuro also happened to be the one on call–which makes life soooooo much easier–right, TSC families?! When I told him he wasn’t really eating or drinking, he advised us to go to the ER. We were hesitant. believe it or not. That probably sounds crazy to those outside this life, but as most of us who have been dealing with this stuff for a while know, you start to realize how little can really be done at the ER. You’ll find many special needs families that have the attitude of “what can you do at the hospital that I can’t do at home?” (Besides infect me with MRSA).  I mean if he was in a status seizure, or had something life threatening going on, that’s obviously ER territory, but this? We weren’t real confident. But it had been going on so long, we followed the advice. This is how the weekend ended up:

Getting fluids in the ER.
Getting fluids in the ER.
This bandaid is AMAZING!
This bandaid is AMAZING!
Typical man.
Typical man.
Perking up!
Perking up!
Doc says it's time to roll out! (to tune of Ludacris)
Doc says it’s time to roll out! (to tune of Ludacris)

They ran all the standard blood and urine tests (Connor chose not to pee for hours so when he did fill the bag there was no way to get it off without spreading the golden warmth everywhere). He was also hooked up to a keto-friendly (he’s on MAD) saline drip. Tests all came back normal. But when he didn’t really perk up after the saline, our neuro told the ER doctor not to send us home. This is where things got hairy. The ER doctor told us we were being admitted because of possible subclinical activity. So guess what we thought? How does one find out about subclinical activity? WITH AN EEG!!! I went home to pack a bag while Chris stayed with Connor. I was on my way back when I got the text. We were admitted , but they don’t do EEGs on the weekends. The rest of my texts to Chris were 90 percent F-bombs. The. Monopoly. Children’s. Healthcare. System. In. Georgia. Doesn’t. Do. Emergency. EEGs. On. Weekends. I was well aware that they didn’t schedule routine EEGS on the weekend, but…but…but… (And I later found out this happened to another TSC family who went in with INFANTILE SPASMS on a weekend).  This is inexcusable. Utterly inexcusable. But I’ve never been quiet about how I feel about Children’s Healthcare of Atlanta at Scottish Rite (or CHOA in general). So we spent the night with Connor hooked to an IV to keep him hydrated. He did start to perk up late that evening and was much better the next day so we were discharged. I was happy to have him get the IV until he would eat and drink again and I totally understand why he was admitted. When we talked to Connor’s neuro, he said that was the reason he asked for us to be admitted, and that’s fine. The ER doc was either confused or we misunderstood the implication about the EEG, I guess.

But that doesn’t change my thoughts on the matter. There is no excuse that someone can’t get an EEG on the weekend for an emergency situation. I understand that hospitals aren’t as heavily staffed at that time, but this is not okay. So if a child has a seizure for the first time ever on a Friday night, you are crap out of luck until Monday? If a child presents with infantile spasms on a Saturday morning, too bad? We can’t confirm until Monday even though IS requires immediate treatment? I’m just at a loss.

I do want to say that other than that, the stay itself was probably the best one we’ve had. Attentive and proactive nurses and the attending doctor on the floor was fantastic, a far cry from the time he got EEG glue in his eye and I had to demand something be done for 17 hours before anyone would look at him. By then his eye was swollen shut and he was in terrific pain and requiring antibiotics. It also made me feel better about the fact that it took 16 hours to get paper towels brought to the room and that the urine sample that was spilled never got mopped or sanitized (there went our four paper towels that were left in the room). Requests were definitely made by our nurse and techs for those things to happen, but whoever was on the other end of the line has a sweet job because they never bothered to do it.

On an amusing note, the pharmacy didn’t have his meds on hand (a specialty one they never have, and the other they didn’t have in the right form) so we were asked to turn over our meds to be dispensed by the pharmacy. (Wonder what that will look like on the bill?) They have to keep his Onfi under lock and key because it’s a controlled substance. His Klonopin is too, but I didn’t turn that over since it’s just for clusters. It’s funny to think he’s prescribed two meds with more street value than the medical marijuana the law prohibits me from having.

Rosie the dog and Connor had an exciting couple of weeks. My parents went to Italy so we had their batsh** crazy full-grown kittens for two weeks. Rosie is in love with Thatcher the black cat. Followed her adoringly and stalkerish the whole time. She also enjoyed chasing Theo, who spent a good portion of the past two weeks hissing at everyone. One of them broke a wine glass. They were allowed to live only because my wine wasn’t in it.

I awoke one morning with four cats in my room looking at me. It was an eerie glimpse into the life of a cat lady, a possible calling I chose to ignore. I emailed my mom to tell her of the terrifying experience and she responded by offering to bring these back from Italy for me:

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Random note: Connor and I made the local news. Check it out here.

I leave you with photos of our zoo. Our two cats are not present in the photos as they opted not to set foot outside our bedroom for the duration of this social experiment.

My mom bought them a cat tent for the stay should they become too unruly during the stay...Connor took a liking to it--more than the tent we actually bought him to play with.
My mom bought them a cat tent for the stay should they become too unruly…Connor took a liking to it–more than the tent we actually bought him to play with.
I'm like a cat. I wanna sit in laps.
Me, me! I’m like a cat! I wanna sit in laps!
Might as well taste the goods.
Might as well taste the goods.
Rapunzel....Rapunzel...
Rapunzel….Rapunzel…
Neighborhood Watch
Neighborhood Watch
Wanna play?
Wanna play?
Where are you going?!
Where are you going?!
Naptime.
Naptime.
I don't know what they were doing, but somehow they collapsed the tent down on themselves.
I don’t know what they were doing, but somehow they collapsed the tent down on themselves.
What goes around, comes around.
What goes around, comes around.








 

I knew there had to be something wrong for the EEG to continue…

Second Annual “Blogging for TSC Awareness Month” Day 31

by guest blogger Sandy Rhodes  (Altoona, Pennsylvania)

IMG_147969384610702My husband and I were married two years when we decided to start our family. We had it all planned out to try for a child in the late fall so that I could deliver between semesters. I was accepted into a school for my Family Nurse Practitioner degree in 2012 and didn’t want to take a semester off. The stars must have aligned just right, because we found out in October we were expecting our first child! I cannot begin to tell you the emotions of seeing two positive pregnancy tests after trying for three months with no luck (I am aware that isn’t a really long time). I was so excited I called off work thinking the OB/GYN doctor would want to see me that day.

We had our first appointment in late November that confirmed our pregnancy. We told our families on Thanksgiving. They had to know something was up when I volunteered to do the blessing before the meal. The pregnancy was not anything unusual. I was sick the first twenty weeks with horrible nausea. I was sick daily and spent my fair share of time in the bathroom. My husband was a superstar during my pregnancy. He made it to every appointment, dopplered the baby’s heartbeat daily with our home Doppler, and cared for me on top of working full time. Our labs and ultrasound were all normal. We found out we were having a boy right before Easter 2013.

The labor and delivery of our son Camden was uncomplicated. I had a great epidural! My son Camden weighed in at 8 pounds ½ ounce born July 20, 2013. No one could believe the size of him. We brought Camden home July 22nd with no complications. Things would stay relatively normal for approximately seven months.

February our lives changed forever. My husband was explaining an episode Camden had when he was giving him a bottle before bed. He said his arms flewIMG_147874206265976 up several times, and he was really fussy. I am a nurse and wrote the entire situation off as the startle reflex. It was two days later walking through Walmart when I witnessed an episode for myself. It made me uneasy to see Camden’s arm rising up to the left and his head turning that way in a series of pull like motions. I told my husband I would call the pediatrician in the morning because Camden seemed fine before and after the episodes. I thought maybe he was teething or had a low grade temp. That night as I was rocking Cam to sleep he had an episode in my arms. This is when I knew things were more wrong than I could figure out. I called our pediatrician on call who told me if it was his son he’d go to Pittsburgh Children’s Hospital. We packed a bag, called our parents, and drove the two hours to Children’s. My father and mother -in-law made the trip with us, thankfully.

We checked in and were taken to a bay in the ER. They were very slow that night and we received several ideas that seemed like minor fixes. The ER physician said he believed Camden was having intestinal pain and a minor laparoscopic surgery would easily correct this common retropulsion issue. Camden’s electrolytes came back with high potassium, but that was later found to be hemolyzed and inaccurate. That would’ve required the administration of medication to make him poop out the extra potassium. While in the ER bay Cam had another episode. I yelled at my husband to find a doctor and pulled my cell phone out to record what I was seeing.

IMG_147889059842634 We were admitted and Cam was given an IV bolus of Keppra. This made things so much worse. He had several more episodes when we reached our room. We were hooked up to an EEG machine in the wee hours of the morning for an hour long study. Cam only had one episode during this time. When the tech came to remove Cam’s leads he received a call stating he was to be left on the machine. My heart sank. I knew there had to be something wrong for the EEG to continue. Three hours into the EEG a neurologist came into the room. He explained that the EEG was showing hypsarrhythmia. This was a common feature of infantile spasms. I was kind of optimistic in the next few seconds thinking how minor most spasms are. The optimism was short lived as the physician continued to say the word epilepsy. How could my baby have epilepsy? We aren’t epileptic, our family has no history, there were no problems during my pregnancy, and he was an uncomplicated delivery! He ordered an MRI for that day.

So much had happened in half a day. I was sitting in the noisy MRI machine as my sedated baby underwent his testing. I remember praying to God to make things ok and get us home. I remember picking him up off of the table to go to recovery where my husband was waiting. I laid him down on the table so the nurse could get vital signs. The BP had not even come up yet on the machine when two physicians entered the room. We were prepping Cam for a lumbar puncture to rule out infection at this time. Then another nurse came in and removed the LP tray. The doctors looked at Mike and me and asked us to sit down. I lost it. I knew in that instant there was something drastically wrong. My mind was running wild thinking about tumors and defects and malformations.

The neurologist from earlier started by saying your son has a textbook case of tuberous sclerosis. I was sobbing and had no idea what tuberous sclerosis was. I remember trying to write down the name so I could relay it to our family, but the pen in my hand felt foreign. The doctor explained there was an amazing website to look for information because we might become overwhelmed if we use Google (TS Alliance.org). They told us our son would most likely be autistic, have delays, and had potential for other organ involvement. They remained with us for about ten minutes of crying questions about outcomes, treatments, and pathology of TSC. I asked them to spell vigabatrin about three times before I just gave up. They left us with our sedated son and the nurse.

How could this be happening to our baby? We had prayed and planned for him. We had zero neurological history anywhere on our family trees. Could things be any more crazy and devastating!? We stayed in our devastated state for several hours, inconsolable.  Our parents were trying to be positive, but we were stuck with the reality our son would have TSC for life. He could potentially some day want to have children and have to deal with this ugly disease.

It was later that night a nurse sat down with us and brought us a computer to look at the TS Alliance site. We read about others with the disease and actually watched videos of other babies having infantile spasms. It was uplifting to read positive stories of achievements and children reaching milestones. This was our first glimmer of hope that we held onto and used to fuel us to remain positive. Camden had an echo, renal ultrasound, and EKG that were normal. We used this as motivation as well. The entire four-day admission our son was pleasant and cooperative with testing.

On Sunday February 10 they decided our son was a candidate for Sabril. We signed consent forms and had our supply for home delivered that evening to 20140526_204209Children’s Hospital. Cam received his first dose in the hospital. Monday he had his eyes dilated for an eye exam which was normal, and we were discharged home. Our five day stay in the hospital revealed more than anyone could’ve ever guessed. We had a diagnosis no one locally had ever heard about.

At home we continued Sabril. Camden’s last episode of IS was February 16. He has become an even happier baby with the use of Sabril. I rely on the TS Alliance for updates and support on a daily basis. This diagnosis is not a death sentence. The overall vibe from Pittsburgh Children’s Hospital was professional and geared at being prepared for the worst. They have been excellent with our follow up care, and we have grown extremely found of Dr. Thodeson who will be leaving in June. We found our way to Cincinnati Children’s Hospital for a research study and felt a completely different vibe. They are all more personal and positive. It has been amazing to have exposure at two TS Clinics. We are in this for the long run to do everything in our power to better our son’s life. We will go anywhere, pay anything, and be there 24/7 for every up and down. This disease is filled with ups and downs. We are pretty new to the TS community, but the welcoming and support has really kept our faith alive. We pray every day for our son to live a long life, learn from everyone, and love all. We are not going to let TSC define our baby. He will show TSC who is boss! He’s come so far already. He is 10 months old and has not yet had any delays. He rolls, crawls, babbles, and has the greatest smile. We are thankful every second of every day to have Camden the baby we prayed and planned for!

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…

 

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!

 

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

Second Annual “Blogging for TSC Awareness Month” Day 18

by guest blogger Sarah Burton  (Highland, California)

IMG_3514 (1)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 photo (6)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.

IMG_2320 (1)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.”

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This Can’t Be.

Second Annual “Blogging for TSC Awareness Month” Day 17

by guest blogger Kelsey Hudson  (Moon, Pennsylvania)

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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?

glue hairMy 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 jj and wyattwould 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.

sneakyAfter 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.