Tag Archives: diagnosis

Traveling to the Novartis Blogging Conference for TSC

I haven’t blogged much over the last year, except to rage over my pet political issue, so imagine my surprise when I was invited to the Novartis Blogging Summit for TSC.

*Insert legal disclaimer here–While I was not paid for my time at the summit, my travel, hotel and food expenses were paid by Novartis.* They also gave me a box of kittens. No. I’m kidding. Only one lousy kitten.

Four other moms to kids with TSC were also there.

Tina of Captain Jacktastic, who I initially met around the time I started this blog through WordPress and later Facebook.

Heather who has written several pieces for Huffington Post, and I met for the first time last year in DC during the TS Alliance’s March on the Hill to continue funding for the Tuberous Sclerosis Complex Research Project.

Laurisa of Land of La, who was one of my early stalking victims when I was finally able to do TSC research for more than two minutes at a time without “breathing” into a paper bag.
IMG_8972 And Stephanie of Lanier Landing, who was the only one I had really never had any social media contact with, but I had stumbled across her blog when seeking other TSC kids in Epidiolex trials. At the time, her son was the only one I knew of.

The day I left, Connor seemed to have a bit of cold and Chris thought he was coming down with it as well. This is called foreshadowing — but I’ll get into that later.

I was picked up at the Newark airport by a man holding a sign with my name. I am accustomed to such a lifestyle as I force my husband to stand in the driveway most days and greet me in this manner when I come home. It turned out Laurisa had shared my turbulent flight that wasn’t quite in a “luggage bins popping open” category, but definitely required gripping of the arm rests and the parents in front of me to intervene with their 10-year-old who was launching a panic. The driver whisked us to the Short Hills, New Jersey Hilton where I luxuriated briefly in the softest king bed ever then headed down to the hotel bar to meet the other ladies.

We had dinner with several Novartis employees and shared our stories so they could have insight on what it’s like to live day-to-day with TSC. For those that don’t know, Novartis produces Afinitor, a medication that can shrink certain types of tumors that occur in TSC. Connor, fortunately, does not have a need for this medication at this time, but it would be a likely course of treatment should he ever develop a SEGA in the brain or large AMLs in the kidneys.

It’s weird to sit and talk about your kid and TSC without having to give a bunch of background information, explaining what certain acronyms mean or why a particular medication might be preferable to another. They already know and they’ve already been there.

When dinner wrapped up at 8, we caught the train into NYC to meet another TSC mom who lives in the city.

Correction, four of us went. Tina’s no fool. She wasn’t about to let a king bed, personal hotel room and a long, luxurious shower without the door cracked listening for shenanigans pass her by.

We met fellow TSC mommy Naomi at Haymaker Bar, a few blocks from Grand Central Terminal, ordered drinks and appetizers and talked about some more acronyms that needed no defining.

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Heather revealed that Times Square was on her bucket list and since I was pretty much intent on spending every minute I could squeeze out of this 24-hour trip in NYC, I was fully supportive of her checking that item off. We trekked through the tourist mecca, which was hopping on this Friday night. As we passed by the Disney store, we were drawn inside by the sheer number of people inside at midnight. Apparently a large number of tourists venture all the way to New York and decide, as one day rolls into the next, that they simply MUST HAVE AN ELSA DOLL RIGHT NOW. It was amazing. And a little sad. But mostly amazing.

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We caught the train back to Short Hills where we bonded further as we almost spent the night in the station. The hotel didn’t offer much hope of a taxi and their shuttle service had stopped. Our first Uber driver was too stupid to find the train station. No we are not shopping at Trader Joe’s at 2 am. The second one found us, but appeared to have only been a licensed driver for a day or two. At any rate, we made it back to the hotel where it took me another hour to fall asleep, still high off neon and LED lighting (did you know that the Times Square district is the only district with a requirement for businesses to have illuminated signs and that there is a minimum, rather than maximum, lighting requirement)?

The next day was filled with discussions of TSC, diagnoses and, most importantly, what kind of resources would we have liked to have had when we received the diagnosis. We spoke of the fear of what was out there on the Internet and at least one person had been told to stick to TSAlliance.org and not to Google. Period. Novartis unveiled some new informational pamphlets for our feedback and said they are revamping their informational site.

There were some other resources they want to be sure the TSC community is aware of.

  1. The Afinitor $25 co-pay card. This only works with commercial insurance (not Medicaid). If your co-pay is more than $25, print this out and take it to the pharmacy.
  2. Afinitrac. This support program offers financial and educational support, deals with your insurance and provides other resources. Please note they are only allowed to offer it to patients who are using Afinitor on-label. If you are using it off-label (meaning for something it has not been officially FDA-approved for yet, like seizures or cognition) they are prohibited from providing this support.
  3.  Turbo & Scott. Previously the story book about a kid named Scott who has TSC was only available online, but it is now in print. It goes into a lot of detail about TSC in more kid-friendly terms. It’s a bit complex for younger kids or kids who are cognitively affected, but for older kids, siblings, or friends, it can be a great resource. There is also a comic book about a teenage Scott on a quest to meet others with TSC.

I was not required to share these resources or blog about the summit in order to attend, but I wanted to make sure people know about these resources as for many of us, the use of Afinitor (Everolimus) could very well be on the table one day, if it isn’t already.

I’m sad to say that I had to leave just before we wrapped up to catch my flight so I didn’t get to spend more time with my mommies, but perhaps my suggestion, as I exited, to do this again in Vegas will be heeded by Novartis 😉

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And so I headed home where I would soon learn that the cold was not a cold…but more about that in my next post. A full update on Connor to come and the reasons why I’ve dropped off the mommy blogging planet.

 

 

 

 

 

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My New Normal

Evie Cards outfit

Day 9 of of Blogging For TSC Awareness

by guest blogger Jackie Grenia  (St. Louis, Missouri)

For 15 years, my normal consisted of all things BOY.  In 2014, remarried with now a fourth son, and pregnant with a girl, I knew that my normal was going to change significantly. Everleigh Sophia was born on December 5, 2014, after 41 weeks of an uncomplicated pregnancy and about 10 hours of beautiful labor.

This pregnancy, so unexpected, and belated, worried me, but by the time my gorgeous girl appeared, my worry took a backseat to my joy. I was so grateful to have this experience again. Evie arrived into a room full of eager family.  7lb, 5oz with all 10 fingers and all 10 toes.  Perfection!

Everleigh was wonderful and distinct.  Nothing about my experience with her felt normal from day one. My mommy instinct kept telling me that something was “off” but I couldn’t put my finger on it. I’d express my concern to anyone that would listen but kept hearing that I was used to boys and this girl was bound to be different.  She seemed so restless and irritable, so nursing was a challenge to say the least.  She made strange, unfamiliar noises that we jokingly referred to as her “growl”.  She also looked dramatically to the side (first right and then left) & fluttered her eyes often.  We again joked…”she’s a diva”, “already stubborn, refusing to look us in the eye”.  Was this all normal baby stuff? Had it been so long that I’d forgotten?

Evie was nine weeks old and I was unable to shake my unease.  My DSC_0306 (800x536)gut wasn’t just telling me there was a problem, it was screaming at me. No doubt, I was trying everything.  I was a slave to google. I made numerous calls to lactation consultants. I took her for extra visits to her pediatrician. I visited another “holistic” pediatrician some miles away (who performed a frenectomy of her upper lip and tongue in an attempt to improve what might be the cause of her breastfeeding problems). We had multiple pediatric chiropractic appointments (to treat what was believed to be torticollis). Each time, I would be reassured that these were “normal” baby issues and each time I would go home to the continued feeling that we were missing something.  I sat staring at my sweet girl, crying, and that’s when I began putting all of the behaviors together.  I suspected seizures. It took a couple of days to completely convince myself and my husband (who was now getting used to coming home to hear my “freak out” about Evie’s behaviors of the day).

We nervously went to our pediatrician on February 11th, and after she actually witnessed the “behaviors”, we were promptly sent to St. Louis Children’s Hospital.  The ER doctors agreed that it was seizure like activity.  Could she possibly have an infection? I was almost excited. That must be it!  She lives with 4 hygiene deficient boys.  Simple explanation!  An acute infection that has caused some seizures.  We can treat it and move on. The ER staff drew blood, performed a spinal tap, started antibiotics and asked us a thousand questions. They gave her Ativan and almost immediately, the seizures stopped. A CT was suggested just as a precaution. We accompanied her and then waited for answers.

DSCN0036Only moments later, a nice young doctor entered the ER room to tell us that he had preliminary results.  This is when my normal exploded into a thousand pieces. I heard what must be two of the most feared words a parent could hear, brain and tumors.  It all happened so fast. I felt sick, dizzy, confused.  We were told that the tumors were benign and most likely due to a genetic disease. Something like tumerous?  tubulous? scler something??  Evie would be admitted for more testing to confirm. I wasn’t even quite sure what he had said.  He exited the room and I sat dumbfounded.

The next two days were a whirlwind.  Evie had more tests than I’ve had in my 43 years of life. An echocardiogram, EKG, EEG, Brain MRI, Abdominal MRI, and general X-rays. The diagnosis was confirmed.  It was a rare genetic disorder; tuberous sclerosis. We were told that our daughter had “multiple brain tumors…too numerous to count”.  The tests revealed five tumors within her heart, multiple, small tumors in both kidneys, along with the tumors in her brain. We were given some informational pamphlets and told that there are varying degrees of the disease and there is no way of knowing how Evie will be affected. Our job was to go home and give her a daily anti-seizure medication and monitor her. Seriously? Monitor what? I wanted to ask what to expect, but they had already said there is no way of knowing. I glanced at the information but honestly didn’t want to know the possibilities.  What’s the point?  I didn’t want to spend any time worrying about what might be.

We went home and it was like a miracle.  Our irritable, uncomfortable baby was now much calmer.  The seizures were gone and nursing was improving.  She still had her quirks, some rigidness, and a left gaze, but I could deal with that.  It wasn’t so bad.  I decided that everything was going to be fine, if anything, better than before her diagnosis. I went into a state of blissful denial.

And then it began again.  Two weeks later, the seizures returned.  It felt like a slap in the face. This was followed by more doctor visits, an ER visit, med adjustments, and finally another hospitalization before the seizures finally stopped. My bliss disappeared. Maybe it was time to educate myself.

I obviously hope for a mild case for Evie.  She’s had more seizures, but I am now educated and somewhat prepared.  I will not allow TSC to take another cheap shot at me. I’m smarter and stronger. I’m tapping into all of the resources available and going to bed each night knowing that I’m doing everything that I can. I’m definitely “on the lookout” which no doubt makes me seem a bit more nervous than usual.  But, I’m also much more aware of the beautiful moments in each day. My eyes are opened wider. My love feels deeper. I’d like to think that I’m becoming a better mom to all of my children.

I never would have thought that my normal would include a seizure diary, daily medications, weekly therapy appointments and discussions of MRI results.  Of course, I never expected to see my boys nuzzling with their baby sister or hear them talk sweetly to her while she admiringly coos. I feel blessed to experience this new normal.

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One Hour At A Time

Day 6 of Blogging for TSC Awareness Month

by guest blogger Fatima Badri  (London, England)IMG_5356

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

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

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

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

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

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

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

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

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

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

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“If you spend too much time waiting for the storm, you’ll miss the sunshine.”

Day 5 of Blogging for TSC Awareness Month

by guest blogger Amy Dublinske  (Kansas City, Missouri)


kier06“If you spend too much time waiting for the storm, you’ll miss the sunshine.” A wise quote to live by, though easier said than done when battling a chronic illness.  Realistically, with the tribulations of tuberous sclerosis complex it does feel like you are always waiting for the other shoe to drop, waiting for the train that’s about to hit you or walking through a land mine.  Our journey with TSC officially began one decade ago today, 05/05/05.

Cinco De Mayo is the ultimate celebration in the United States and kier03-2Mexico.  A day observed to commemorate Mexican army’s unlikely victory over French forces.  For the past decade Cinco De Mayo has carried a new meaning for me and my family.  On May 5th, 2005, our precious daughter Kierstin Gabriella was born….with tuberous sclerosis complex.  May 5th now marks the day we officially entered “The TSC Club.”  The dreaded diagnosis that we truly feared that may just become our reality.  Cinco De Mayo has truly been a bitter-sweet day for the past ten years.

kier09While pregnant, doctors told us that there was a 50/50 chance that our baby girl had TSC due to numerous cardiac rhabdomyoma tumors.  We researched TSC.  We talked to several TS families but were plotting out how we would tell them the day that they determined that our baby “really didn’t” have this awful disorder after all.  Denial is a happy place, Right?! Unfortunately that day never came and we were officially inducted into “The Club.”

I can clearly recall the cardiologist trying to gently explain Tuberous Sclerosis to this very pregnant mom-to-be for the first time ever hearing those words uttered. Though his English was broken, the one thing that was abundantly clear in any language were his words “we hope it is not Tuberous Sclerosis.  This is a very grim diagnosis.”  The words “brain tumors, heart tumors, kidney tumors, mental retardation and there is no cure” were also communicated rather clearly.

When leaving the hospital, while nearing the elevator I witnessed a mom pushing her infant daughter in a stroller.  She began lifting her in the air and playing peek-a-boo with her to the point of the baby belly laughing.  I suddenly became weak in my knees and collapsed right there on the floor at over eight months pregnant. It suddenly struck me that we may never have this with our baby girl or may never experience the privilege of hearing those belly laughs.  How could this possibly be happening to us and to our precious daughter that we longed for years to have? We had so many hopes and dreams for this little one and all those dreams seemed to be suddenly shattering with just one sonogram.   I think at that very moment I knew in my head that she had TSC, yet my heart wasn’t willing to accept it.  The next month is a complete blur as we prepare for the unimaginable while still holding onto a small shred of hope that they might be wrong.

Essentially, May 5th doctors confirmed what we dreaded and the medical journey which was filled with much uncertainty began.   She was induced with the anticipation of open heart surgery given large rhabdomyoma tumor growth.   Though her heart was more stable than initially expected, we quickly received the dreaded diagnosis of TUBEROUS SCLEROSIS.  All of her organs were affected with tumors at birth.   We were devastated beyond words!  A short glimpse of the journey begins with evaluating every organ by a new “ologist.”  Countless appointments, numerous medications, relentless seizures, years of therapies, multiple hospitalizations, brain surgeries and weeks and weeks and weeks advocating and educating about this diagnosis that I have quickly become an expert on is what our “new normal” consisted of.  No one imagines their baby struggling to reach the most basic of milestones like rolling over or sitting up.  Who plans their family vacation destination in conjunction with medical appointments with specialists from across the country?  Every parent of a child with special needs grieves their child’s diagnosis at one point in time.  I remember silently crying in the shower in the mornings, so that no one would hear me.  I am ashamed to admit that I have never completed Kierstin’s baby book. Every time I would try it would be a reminder to me that she had not met any of her first year milestones, or if she did, briefly she would lose the milestone with the next seizure.

If I knew then what I know now, I would definitely have spent more time in the sunshine and less time waiting for the storm.   “The storm,” which was more equivalent to a never-ending roller coaster ride with some of the most gut-wrenching twists and turns you can imagine, has taught us how to live in constant chaos and crisis so to speak.  This journey and particularly Kierstin has taught me more about life than anything else I have ever experienced.  Throughout the years I have had dozens of people say “You are such a strong person, this must be why you were chosen to be Kierstin’s mom.”  Being strong is the ONLY option.  We refuse to allow TSC to define our daughter, but more importantly SHE refuses to let TSC define her!!

royalsKierstin has taught me unconditional love to a higher degree than I ever thought possible.  Though my dreams of having my first born daughter are much different than today’s reality, I have so much to be thankful for.  This journey with TSC is not quite the journey of my dreams; though Kierstin is the daughter I have always dreamed of!!  This year we celebrate Cinco De Mayo thankful for God choosing us and mostly trusting us to be her parents.  We are eternally blessed and thankful for this privilege of meeting our hero on May 5th of 2005.  Many people dream of someday meeting their hero, but fortunately I gave birth to mine!! So after a decade battling TSC, Cinco De Mayo is now my day of celebrating my HERO!! Enjoy the sunshine, forget about the storm.  And Always Remember: We Will Give Everything!  But Up!!

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Another blogger talking about the #IceBucketChallenge! *groan heard worldwide

Too bad. I’m gonna write about it anyway. I’m terribly jealous of it, you see. What I wouldn’t give  for this kind of exposure for TSC. But what it has done for the ALS Association is amazing. From July 29 to August 21, the ALS Association  received $41.8 million in donations, compared to just $2.1 million during the same time period last year.

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Motor neurons reach from the brain to the spinal cord and from the spinal cord to the muscles throughout the body. The progressive degeneration of the motor neurons in ALS eventually leads to their death. When the motor neurons  die, the ability of the brain to initiate and control muscle movement is lost. With voluntary muscle action progressively affected, patients in the later stages of the disease may become totally paralyzed.”

Despite how horrific the disease is and the incredible success of the ice bucket challenge, the amount of criticism is incredible.

1. It’s a waste of water (everyone who said this better be taking three-minute showers).

2. Not everyone who does it is actually donating (okay, I agree that’s lame, but maybe, just maybe, they challenged someone who challenged someone who wrote a big fat check. And at this point if you haven’t at least heard of ALS, you are living under a rock).

3. People aren’t including the link or contact info to donate, or any factual information about ALS (ideally, yes people should make it as easy as possible to donate. If you haven’t done it yet, please include the link to ALSA.org)

4. Participants just want attention. JUST DONATE AND SHUT UP ABOUT IT.

Yep, number four is the one I want to address. Wouldn’t that be wonderful? Wouldn’t it be delightful if people just woke up and said, hey, I think I’ll donate to charity today! Yes, of course that does happen sometimes, but the reality is that it often takes a big disaster, media coverage, huge event, celebrity endorsement, or a diagnosis of a friend or family member.

Some people think the ice bucket challenge is nothing but people wanting attention when they should just quietly donate and say nothing. I might have made that cynical statement myself a few years ago. But I know something now that I didn’t know back then. It is extraordinarily difficult to get people to donate to your cause when you don’t have the NFL wearing your awareness color for a month or celebrities talking you up on late night television. And I think a lot of people criticizing it have no idea what it is like to try and draw attention to a charity that is helping your child, spouse, family or friend.

Those of us dealing with lesser known disorders are begging for support on social media. And if some “annoying trend” of dumping ice water on your head is what does it, so be it. We don’t have time to worry about whether our campaign is “like totally annoying” or “trendy” or “stupid.” What we know is that someone we love is hurting and we want relief for them. As I stated on Facebook (and was met with WAY too much enthusiasm by my friends for seeing me covered in crap) I would roll around in horse poop if it would bring in the donations. Just imagine what the critics would say about that. And then I would show those critics a video of Connor seizing or a picture of his two seizure-related black eyes.

If a silly gimmick brings in the money, so be it. I’d rather people donate because of a fun challenge than because they have received the heart-breaking news that they or a loved one have received a terrible diagnosis.

The first TSC walk we participated in was a couple months after Connor was born. He had just gotten out of NICU. We raised six times the goal. In the two years since, we have only raised about a third of that amount each year. I don’t say that to be critical. If you have ever donated at any point, I am extremely grateful and don’t consider anyone obligated. But I share this to make the point that it takes something big to get the donations. Connor’s new diagnosis was the big event that triggered such generosity in 2012. But now it’s just a normal, run-of the mill, annual activity of mine to raise money for the walk that no longer garners the same degree of attention. Who knows; maybe I really will have to roll around on a stable floor to get the attention I got the first year. That’s just how it goes when fundraising for charity. I mean, why do charities do walks, 5ks, banquets, or sell products? Why don’t people just donate! Because we’re human. We like t-shirts, food and Girl Scout cookies. And now — dumping ice water on our heads.

Why does something bad have to happen to inspire people? Is it such a terrible thing that people are donating because of something light-hearted and fun?

And to my friends that were challenged and opted to do it on behalf of the TS Alliance, I thank you from the bottom of my heart.

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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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