Tag Archives: hospital

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

Second Annual “Blogging for TSC Awareness Month” Day 30

by guest blogger Katie Creamer  (Long Beach, California) 

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

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

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

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

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

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

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

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

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A Parallel Universe

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.
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.

 

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.

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

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 1234820_4656475948570_2025514539_nthat 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.

558704_10100447182455011_1003519270_nAfter being admitted she was put through a million tests, blood, urine, MRI, EEG, EKG and probably more that I 10307367_10200927489788174_5094866193832748621_ndon’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 1382781_4821538395028_1044385447_nabout 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.

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

Second Annual “Blogging for TSC Awareness Month” Day 9

by guest blogger Jamie Perry  (Deltona, Florida)

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

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

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

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

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

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

Every Child Gets One Free Seizure in Life

Second Annual “Blogging for TSC Awareness Month” Day 8

by guest blogger Jordan Martin  (Brunswick, Georgia)

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Growing up all I ever wanted was to be a wife and mother.  I always wanted to have 4 kids — 2 boys and 2 girls.  I met my husband Thomas (T.C.) when I was 18.  We have been together for 10 years and married for 7 years.  We have 3 amazing boys: Conner 6, Preston 4 and Aiden 18 months.

Conner Thomas Martin was born on what at that time was the luckiest day of the year July 7, 2007. People to this day when they hear his birthday their first reaction is, “Wow, what a lucky boy!”   I always think to myself, “If you only knew what he has been through”.  To this day I still don’t remember what he looked like the first time I saw him.  I was put under for a cesarean.  Never have done drugs in my life or had ever been in the hospital.  So when T.C. showed him to me for the first time all I remember seeing is a head full of black hair and then passing back out.  I know a lot of parents say this but Conner was seriously the best baby. He was never fussy; he loved to sleep.  He did have acid reflux, but other than that he was perfect.  At around a month old I was sitting on our couch burping Conner and my watch pinched him.  He cried but I checked and didn’t see a mark.  A few hours later when T.C. got home he was changing him and noticed a mark on his lower back.  I assumed it was from my watch and told him what happened. “No Big Deal!!!”

A few weeks later Conner had a check-up and the mark was still there but bigger and risen above the skin.  He also had a red mark on his stomach of a different shape but also red and risen above the skin.  The pediatrician assured us they were “hemangioma.”  Nothing to worry about and would shrink as he gets older.  Well he was right about one red mark.

Conner hit all his milestones right on time.  He was the easiest going little boy.  Never sick, never met a stranger he didn’t know, loved to play outside but was also content being by himself in his room playing.  He was just full of life.  In 2009 we had our second son Preston Robert Martin.  He was born exactly 2 years 2 weeks apart from Conner.  He was by far not the best baby.  He was miserable.   Teething but couldn’t cut teeth.  I tell him all the time “I would never re-do you as a baby again.”  Conner loved having a little brother and being able to teach him things.  That is until Preston learned how to crawl and take his toys.  Life was “normal” as could be.  I hate that word “normal”!!!!

Our story begins on September 19, 2010 at 12:15 p.m. Conner was  3 years old.  It was a rainy Sunday afternoon.  The boys woke up at their normal time, considering the night before Conner woke up at 2:45 a.m. throwing up and Preston was up and down cause at this point all his teeth were coming in at the same time.  T.C. was still asleep.   He worked at a mill at the time working 12-14 hour days so on the weekends I let him sleep in.  At 12:00 p.m. I rocked Preston to sleep and asked my mom to watch Conner for me while I did so.

At 12:10 p.m. I laid Preston down and asked my mom where Conner was. She said he was in my room watching Tom and Jerry.  I went into my room and asked Conner to go to the bathroom so we could lie down and take a nap.  I kept calling his name and asking him to get up but he just laid there.  I assumed he was just caught up in the cartoon.  I went and stood in front of the TV and asked him again but NOTHING!!!  I turned around to turn the TV off and when I turned back around his face was turning red and his eyes — it was like there was no life in them.  I said, “Conner what’s wrong with your face!?!”  T.C. immediately jumped up from out of bed and picked him up.  Mind you neither one of us had ever seen a seizure before.  I went into the next room and got my mom.  By time I was back in the room he was foaming at the mouth, had peed himself and was convulsing.  T.C. handed Conner to me and told me to get in the car.  He threw on a shirt pants and didn’t even bother to find his shoes.

We live right down the road from the hospital.  We pulled up so fast they must have seen us coming because they came running out to get him.  They were asking all kinds of questions.  I couldn’t process anything.  Conner couldn’t talk for 4 hours.  He was completely out of it.  Once he was stable and coherent they moved us to a room for overnight observation.  They ran tests and did scans.  The next day the doctor came in and said everything came back “normal.”  It was just a spiked fever that caused the seizure.  I looked at him with my husband, Conner’s grandparents in the room with us and said, “My son doesn’t spike fevers”!  I can count on one hand how many times he has ever been sick.”  I just knew it was something more.  The doctor looked at me and said “Every child gets one free seizure in life.”  I’ve never wanted to punch someone in the face so bad before.

By time we were discharged it was too late to call his pediatrician so the next day I called and scheduled an appointment.  It would be Friday at 3:30 before they would be able to see him.  Tuesday he was fine and back to normal.  Wednesday at 3:00 p.m I was sitting on the couch and Conner called my name.  I said, “yes baby, come here”.  He didn’t answer.  I immediately got this sick feeling in my stomach.  He called me again and when he came over to me he was staring off and his eyes were twitching a little.  It only lasted about a minute.  I thought maybe he was just tired.  I had never heard of staring seizures or any other types besides grand mal.  Oh I learned fast!!!

I told my mom and I think she thought I was being paranoid.  Thursday same exact time, same exact thing.  Friday while I was getting Preston to take Conner to his appointment, he did it again but this time my mom saw it.  His pediatrician informed me they were staring seizures and she was setting us up to see a pediatric neurologist in Savannah and that she was also ordering him to have an EEG done.

Appointments were finally approved through insurance and Conner had his first EEG done in November 2010.  The neurologist appointment was also coming up, but right before Thanksgiving I received a letter stating they had to reschedule it to the end of December.  By this time Conner’s seizures were worse and every day, sometimes resulting in emergency room visits.  We decided after we came back from Thanksgiving in Florida we would go to the hospital in Savannah and pray they would see him or anything.

While in Florida I received a call from the hospital about his EEG results.  Even though Conner was awake it showed abnormal study due to the presence of spike and sharp wave activities in the right hemisphere, which would be consistent with a few focal seizure disorder.  A few days later there we were walking into the emergency room in Savannah.  The lady at the front desk just looked at me like I was crazy when I was explaining what we were doing there. We weren’t leaving any other way.  Conner, being the helpful child he is, decided to speed the process a long faster and started having a seizure.  We noticed that anytime Conner gets nervous, scared, surprised, overly excited or any loud noises tend to make him have seizures.  She immediately called and they came and took us to the back by time we were in a room he had stopped seizing.  We told the on-call doctor what was going on so he said to give him a minute.  An hour later he came back and told us he called the neurologist office and they would see us in 30 minutes.

Dr. Mortez was the neurologist.  She was really nice and we explained everything that had been going on.  She said she was ordering an MRI and requesting all of Conner’s labs, test results and scans done the day he first seized.  Along with those she also wanted the results of his EEG.  She prescribed him Trileptal and would see us back in 2 months.  If only it was that simple.  Conner’s seizure got worse even with the medication and by the time 2 months rolled around we still hadn’t had the MRI.  She increased his medication and said she would call about the MRI.  By now ADHD and aggression had set in and his hostility was always towards his brother and me.  Still is to this day.  T.C. ended up calling our insurance company up and having a few choice words with them because they still hadn’t approved his MRI.  Needless to say a few days I received a call from the doctor’s office with an appointment scheduled.  February 17, 2011 he would have his first MRI done but not his last.

February 18, 2011 T.C. was sick so my parents, Preston, Conner and I all went to Savannah to receive the results from the MRI.  I was honestly expecting for it to be a simple case of epilepsy. BOY WAS I WRONG!!!  My dad stayed in the waiting room with Preston letting him play with the toys.  My mom went in the back with Conner and me.  In walks Dr. Mortez and from then on it was like an out of body experience.  “The MRI didn’t turn out how I was expecting it too.  It’s more serious than what I was hoping for.” She says.  My mom later on told me I turned ghostly white when she said that.  She then explained that Conner had Tuberous Sclerosis.  Something I could barely pronounce, let alone spell.  She explained how his body produces tubers/tumor like growths on his major organs.  Now we were being referred to MCG in Augusta, now Georgia Regents Medical Center, to the epilepsy department.  She assured me it was a good hospital and that they have lots of experience with the disease.  She also explained how the spot on his lower back was a “shagreen patch” not “hemangioma” and how the spot on his face that popped up over the holidays was a “focal angiofibroma” and not a mole like I thought.  My mom took Conner out of the room by then so I could talk more with the doctor.  He would now need to have kidney and heart ultrasounds and have his eyes checked as well.  Soon I was left alone in the room.  Not wanting to cry or get upset; just wanting to reach my husband.  All I could hear were the words tubers/tumor like, more doctors, brain surgery, etc going in circles in my head.  This isn’t going away!!!

When we arrived at home I tried explaining it as best as I could to T.C.  I still hadn’t cried.  I couldn’t let myself.  I honestly don’t remember anything after that besides putting the boys to bed.  When I got in bed I completely feel apart.  T.C. just held me. All I could do was cry.  I didn’t understand how this happened.  How my perfectly healthy child could have been born with this and no one knew it.  How could he just start having seizures out of the blue?  It made no sense.  I was pissed, sad, so many emotions rolled into one.

The next day I just spent lying in bed depressed really.  I couldn’t process all of it.  I needed a day to collect myself.  I was numb to be honest.  So my parents took care of the boys that day and my mom took all the phone calls from family members explaining what was going on.  I definitely went through the seven stages of grief.  I think my husband was stuck in anger and denial for a while.  You mourn the life you had and accept this is your new life.  The next day was filled with phone calls to the cardiologist office, setting up kidney ultrasound and eye appointments.  I had one doctor tell me they had only read a paragraph about it med school.

Dr. Mortez told me that if after two weeks if Conner was still getting worse after the last increase of Trileptal, to call and let her know.  Of course his seizures were still increasing and he ended up in the hospital again.  I called her the next day and left a message.  I was surprised when she called back within a few hours and informed us she called Augusta and they were moving his appointment up and we would be getting a call from them to set up an appointment.  She said since his medication hadn’t been working at all he needs to be monitored soon as possible.  Good news was his eyes didn’t have any tumors.  His heart had two small ones but they weren’t causing any damage so they just need to be monitored.

2014-04-059518.25.55A few weeks later we were in Augusta for Conner’s three-day EEG monitoring.  Dr. Park is head of the epilepsy department in Augusta and Dr. Strickland is the neurologist there.  They are Conner’s doctors still to this day.  Conner was monitored for three days.  His seizures were mild and very little — not what we were expecting, which was unusual for him, until the last morning when he had 10 seizures within a 30 minute time frame.  The doctors came in a little later for rounds and said, “That was good we got everything we needed.”  They were a little too excited about all the seizures at the time I thought.  But I understand now.  They said it’s amazing you are able to press the button right before he starts seizing. I said is that good?  They said, Yes. it means we got everything from the very beginning of his seizures to the ictals.”  They asked how we knew before they started.  I told them how sometimes Conner knows before he is going to have one and he will come find someone, and sometimes he also gets this look on his face right before he starts seizing.  I also explained how I can feel it in my stomach right before as well; it doesn’t matter if Conner is in a different room. I get this sick feeling in my stomach.  It sounds crazy.

They informed us of all the testing coming up to see if he was a candidate for surgery.  They also told us Conner’s was a “spontaneous mutation” in his gene while I was pregnant.  We also found out that the doctor in Brunswick who said all his scans came back “normal” read them wrong.  It clearly states there were “abnormal” findings in his frontal lube.  I thought I was going to lose it.

The next few months we spent traveling back and forth.  By then Conner was on Lamictal as well as Trileptal.  It was hard financially on us but we managed with the help of family and friends.  Conner was being tested to see if he was a good candidate for surgery.  Turns out his seizures came from both right and left frontal lubes more so from the right.  Soon he was on Keppra, Lamictal had been increased and taken off Trileptal.  We also had to add Clonidine because his ADHD was so bad he couldn’t sleep but three hours at a time most nights.  He was also becoming more aggressive and having more meltdowns.  At this point even my parents couldn’t handle him bouncing off the walls and acting violent towards everyone.  I felt trapped in my own home with no help.  T.C. worked full time so I could stay home with the kids.  I literally felt like I was abandoned by everyone.

Conner didn’t understand why all of the sudden he wasn’t allowed to go anywhere.  Places he has been to his whole life; it wasn’t fair.  One day I lost it!  Conner was having a bad day — just one meltdown after the other.  I ended up locking myself and Preston in the bathroom just to get away from him and the constant hitting, kicking, screaming, etc.  I called my mom and my best friend’s mom, who is Conner’s other grandmother and just started yelling about how I felt like everyone abandoned him and me and how this disease was taking over my life it felt like.  I needed them to stop worrying about how they felt or were scared of what might happen and think about what he feels and how confused he is.  He would say, “Mama, I’ll try to be good. Trust me.”   “I won’t hit Preston or scream or anything.”  It broke my heart every time, but after the talk with all the grandparents, they understood and began spending more time with him and Preston and were there for me too.

Summer of 2011 came and Conner turned 4.  He would be starting Pre-K soon which scared me to death because he was still seizing every day.  He was now also having them every night so he started sleeping with me and TC slept on the couch.  A few days after his birthday we had an appointment with the neurosurgeon.   My husband, my Dad, Conner and I  drove up to Augusta the night before since it was an early appointment.   The appointment the next morning consisted of the doctor going over the pros and cons of Conner having brain surgery for his seizures since the medication still wasn’t working.  His opinion was that Conner’s best option was to have the surgery.  So, we decided to go ahead with the surgery.   After that TC broke down, but I stayed calm for him and Conner. I’m the level-headed one when everyone else gets upset.

The surgery was scheduled for October of 2011. Since Conner would have only been in school a short time, the doctor suggested he not start since recovery 2014-04-059518.29.42time could be long.  So we withdrew him from school registration.  He had been so looking forward to going. He saw some of the pictures his friends had posted on Face book of their first day of school.  I hated seeing him upset so I put on his Thomas the Train book bag, stood him in front of the door and took his picture.

September 19, 2011 was exactly one year since Conner’s first seizure.  My parents had the boys for the night.  I was lying in bed, waiting on TC to get home from work and I couldn’t sleep.  I was thinking about the day Conner’s seizures started. Everything just hit me all at once: the past year, all the appointments and medications, seizures and the tests his little body had to endure …and now Brain Surgery!  It just wasn’t FAIR! By the time TC got home I had been crying for an hour.  I had tried to hold all my frustration and feelings in for so long that I felt like a dam had burst inside of me.  It all came pouring out.

The next night Conner had 20 seizures in one hour and I thought this would never stop!!!  The next day Conner didn’t have any seizures or the next day or the next.  Four weeks later…still no seizures.  Everyone was so happy!  Of course I, being prepared for the worst to happen, couldn’t allow myself to be excited.

Conner’s surgery day was fast approaching.   My husband wasn’t feeling comfortable with Conner having the operation since the medication seemed to be working now. We talked it over again and decided to cancel the surgery.  The holidays came and went. Conner was still seizure free although his aggression and his impulse control were still big issues we still had to deal with.     2012 was a good year!  We had an unexpected surprise….we were expecting again.  Conner had, maybe, three seizures that year.  He had no new tumors in his brain, heart, kidneys or eyes.  He got to start Pre-K and loved going to school.  Conner and Preston loved having a new baby brother.  It was just a great year.

March 2013 and it’s time for Conner’s yearly checkups.   Kidneys are first.  By now TC and I know what to look for on an ultrasound. We immediately saw the tumor on his right kidney. It’s not very big, but still, it wasn’t there last year.  So now we go to Augusta to see Dr. Ortiz, Conner’s nephrologist, every three months for blood work and every six months for ultrasounds to monitor any new growth.  At least his heart and eyes are still doing well.              School ended and what we planned to be a fun, enjoyable summer was instead filled with stress and sadness.  My Nana, who was living with us, was diagnosed with stage four lung cancer.  Our days were spent with over fifty people (Hospice, relatives and friends) coming and going from our home.  Ten people were actually living 24/7 on air mattresses throughout the house.  Conner’s anxiety and stress level kicked in as did his seizures.  The boys were very close to their Nana.   Summer came and went and Nana passed away.

School started again.  Conner started Kindergarten and Pres started Pre-K.  Two boys in school!  Yes! Even though I had given Conner’s new teachers and school information on his disease, I don’t think they were prepared for the first day. His anxiety was through the roof, he was having a major meltdown, just a really bad day.  But the next day he did really good and had a good day.

Conner is doing really well in school this year (2013-2014 school year).  His anxiety level is up and down. The amount of sleep he gets affects what kind of day he will have.  He still wakes up two to three times a night most nights so the next day is guaranteed meltdowns, staring seizures, and being emotional.                                                                                                                                  Right now Conner is just like any other six year old little boy.  He does get tired a little more easily due to medication.  He is now on Lamictal, Keppra, Topramax for seizures; Clonidine, Melatonin, to help him sleep and Lisinopril for his kidneys.

Conner understands as much as much as a 6-year-old can, that he has a condition called TSC.  We never treat him any different or any more special than his brothers.  As much as this is about Conner and our journey with TSC, it’s about Conner’s brother Preston too.  He is Conner’s rock.  They may fight and argue nonstop and are like night and day but Preston is always there, and always has been to make sure his brother is ok.  Preston understands that Conner has lots of doctors and he has seen everything his big brother has went through. He would sit next to Conner for two hours when Conner fell asleep after a bad seizure. Preston always made sure that when Conner woke up he had his favorite bunny, his Sippy cup and whatever toy he had sitting next to him so they could play together.

It scares me to death to think of Conner as an adult, letting him grow up and be in charge, or have a say in his healthcare.  I know it isn’t anytime soon but I will have to learn to let go and he will be ok.  He is the strongest little boy I know. I am no longer bitter or angry that he has TSC.  I’m trying to embrace Conner for his differences and his sometimes extreme passion and stubbornness.  He gets that honest.  I don’t worry what people think about him or us if he has a “meltdown” in public.   What is deemed “normal” nowadays any way?  People judge what they don’t know or understand. Some days are better than others and sometimes you feel like you have been defeated but at the end of the day it will be over and something better will happen.

This is our TSC story.  It is nowhere near over; it’s really just begun.  Sometimes it feels like a lifetime ago when we tell stories about Conner or life before TSC.  It’s like a different family.  If anything, I want to teach my kids that a disease does not define you as a person or give you an excuse to do wrong.  It makes you a stronger person and can bring a family closer together.  It makes you love and appreciate one another more and treasure every moment you have together.

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