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Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

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

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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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Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

I wouldn’t change her for anything.

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Second Annual “Blogging for TSC Awareness Month” Day 14

by guest blogger Amy Dublinske   (Kansas City, Missouri)

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

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

blog1When researching TSC and talking with other families, I remember hearing things such as “most children don’t have SEGA tumors, most children do not have eye involvement or kidney involvement at birth, etc.   We learned that Kierstin had two SEGA tumors, she had eye lesions at birth in both of her eyes and several kidney tumors when she was an infant.  Due to relentless seizures starting at eleven weeks  she had two rounds of brain surgeries.  She has been diagnosed with TSC2 which we believe was a spontaneous genetic mutation.  Once the seizures were controlled, we began battling the developmental delays and behavioral issues associated with TSC.  Life with TSC has most definitely been a roller coaster ride with many unexpected twists and turns.   If I had a dollar for every time someone has said to me “You are such a strong person, this must be why you were chosen  to be Kierstin’s mom.”  Being strong is the ONLY option.  We refuse to allow TSC to define our daughter, but sometimes the twists and turns of this roller coaster are more than even the strongest person can handle!!

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

Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

He is happy. He is loved.

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Second Annual “Blogging for TSC Awareness Month” Day 12

by guest blogger Shannon Arndt   (Newport, Michigan)

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

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

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

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

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

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

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

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

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

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

12 months, he crawled.

16 months, he walked.

He went to OT, PT and eventually speech.

bladen before surgeryHe’s had numerous EEGs, overnight EEGs, MRIs and ultrasounds.

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

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

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

He started mainstream Young5 with a para-pro.

Then was diagnosed with ADHD.

He started mainstream Kindergarten with a para-pro.

Then was diagnosed with anxiety.

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

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

He has friends.

He is happy.

He is loved.

We still have bumps in the road.  We are currently watching another SEGA brain tumor; he has MRIs every 6 months to monitor.  He has a lesion in his eye, cyst in his kidney, tumors still in his heart, epilepsy, ADHD, anxiety, speech delay and with Tuberous Sclerosis Complex, the list will grow.
However, he’s been seizure and seizure med free for a year and a half.  He is currently unaffected by the lesions, cyst and tumors in his body – meaning, he is not suffering.
Bladen is a tall, funny, handsome, smart, loving 7-year-old boy.  And just as I imagined before he was born, he is STRONG.
Family walk
Current Events, Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

Why We’re Thankful for TSC

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Day 17 of Guest Blogging for TSC Awareness Month

By Guest blogger Catrina Jones  (Monroe, Louisiana)

Note from Mixed Up Mommy: This was originally a Facebook post in the TS Alliance forum. I asked if I could share it here because I think it’s such a great story.

Hannah in August 2012.
Hannah in August 2012.

My daughter Hannah Grace, now 11 years old, started having infantile spasms at 8 months old. After an EEG was performed, it was determined that she had idiopathic benign occipital epilepsy. We were then referred to a local neurologist a month or so later, who ordered MRI/Brain prior to our appointment. I will never forget the day I received the call with the MRI results from the neurologist’s office where the nurse told me over the phone (while I was at work) that it was suspected our daughter had tuberous sclerosis. She said I needed to pick up the film and report to bring with us to Hannah’s appointment, and the doctor would discuss this further. When I asked her what tuberous sclerosis was, she could not tell me and informed me that the doctor would have to give me that information. I was in such shock and dismay that I dropped the phone at work crying, and a co-worker had to finish the call with the nurse. This co-worker immediately went to the internet and pulled up a fact sheet about TS and began reading it to me. After I composed myself, I called my husband and the rest of our family with this news of our daughter having something we had never EVER heard of. I remember having this huge fear of the unknown. When we took Hannah Grace (who was 11 months old at this time) in to the appointment, the neurologist said that he wasn’t sure 100% she had TSC because of lack of other symptoms, but when he started naming off things associated with TSC, the white patches were present on Hannah Grace. He took the woods lamp and inspected Hannah Grace, and to our surprise, she had a LOT of them on her body. He then said he had to concur that she did have tuberous sclerosis. As for her infantile spasms, he ordered her phenobarbital. Later on, her IS started developing into partial seizures so Tegretol & Topamax was added to control those.

So, with the new diagnosis of TSC, began a life of yearly testing and doctors visits. Since Hannah Grace was so young when she was diagnosed, we were unsure of the severity of her TSC. Did she have a mild case or was hers more severe? She was meeting milestones at her regular pediatric checkups, so we were hoping that by controlling the IS, just maybe she would live normal life. She does have some mild developemental/learning/cognitive delays, but at 11 years old, she is pretty much living a normal life that TSC says she should not be living. She has been seizure free for eight years now, and we could not be happier with her progress and accomplishments . She has overcome so much in her life. But our story doesn’t stop there.

Where most of you hate/despise TSC, our family is THANKFUL for it. You see, it was because of Hannah Grace having TSC that we went to her yearly checkup with the neurologist this past July. Actually, it was a six-month checkup, because we had been weaning her off of Topamax, since she has been seizure free for so long. The neurologist always runs labs to check her medicine levels. Those labs that day came back to show Hannah Grace had extremely low white blood counts, and it was thought she was developing a virus. We were told to take her to her pediatrician for a followup to let them check her for mono or other viruses. We went into the office the next day, and they re-ran her labs to find that her counts had dropped even more. They tested for numerous viruses and all came back negative. We were sent home in hopes that she had some type of virus that she would rid itself over the next week, and were told to come back later for repeat labs. The following week, her counts were even lower than the week before. The pediatrician was baffled because Hannah Grace showed no signs of being sick, yet her counts continued to decline. We were sent home under strict isolation and told if she developed a fever to get her to the ER. That night brought the fever and an ER visit. She was admitted to the hospital where our new journey was just beginning.

For two weeks in the hospital, Hannah Grace fought extremely high fevers, developed a rash, and her chemistry levels began to fall. She eventually ended up in PICU, where the

A recent photo of Hannah Grace.
A recent photo of Hannah Grace.

MD told me she was critical and needed to go under a pediatric hematologist because her counts had bottomed out. It was determined that we would be transferred to a Baton Rouge Children’s Hospital under the care of a hematologist. When we got there, they believed she had an infectious disease, so tests were run for every infectious disease/fungus there was, and everything came back negative. After a week of this, a bone marrow aspirate was done August 7, 2012, and we were told on August 8, 2012 that Hannah Grace had acute lymphoblastic leukemia. OMG, for a second time in our lives, we were hit with devastating news. Our little girl has cancer. The last ten months of our lives have been spent at St. Jude Children’s Research Hospital & Affiliate fighting leukemia. I would give anything in the world if I could go back in time to the days of her having to deal with just TSC. TSC we were managing and doing well. Hannah Grace is in remission, but she will have to be in treatment for the next 2 1/2 yrs to make sure she is completely cured of leukemia. This road has had many difficulties, but we are most THANKFUL that St. Jude has decided to help treat her TSC along with the leukemia. This week, we came back St. Jude because they started Hannah Grace on Rapamune (Sirolimus) to try to shrink the SEGA and other tumors she has throughout her body (mostly on her brain & kidneys). We are so THANKFUL to have this opportunity, where we probably wouldn’t have had it back home in our small town. God works in mysterious ways!

We invite you all to checkout our pages at:

https://www.facebook.com/LouisianaTuberousSclerosisPage

and https://www.facebook.com/HannahsHopeForHealing.

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Current Events, Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

Humor Gets Us Through the TSC Battlefield

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Day 16 of Guest Blogging for TSC Awareness

By guest blogger Renee Seiling  (Westbury, New York)

tsc walkMy husband and I married in 2007 after dating for over six years. We always planned to try and start a family in September 2008, and we did get pregnant that month. But we never planned for our daughter to be born with an incurable disease.

May 15, 2009 we heard devastating news; they found rhabdomyomas on our unborn daughter when we were 35 weeks pregnant. That is when we first heard the words tuberous sclerosis. I remember crying at home that night and my husband said to me “She can feel everything from you. You are stronger than this and she is going to get her strength from you, so no tears, so she’s as tough as you are.” He was right, so I started doing research, met with genetics doctors, cardiologists and had sonograms every 3 days to check on her. They induced our pregnancy three weeks early and admitted her to the NICU.

It was so hard to not have your baby in the room with you and having to go down to the NICU for feedings and for the doctor’s rounds. But the hardest was watching the days when babies were not well and they would be crashing right before your eyes. I did not know any of the moms there, but we all felt for each other. Seeing babies that have lived there for four months made you realize that you did not have it so bad.

When she was 4 days old a brain MRI confirmed TSC. Zoey was born with countless tubers on her brain and a subependymal giant astrocytoma (SEGA) as well. We were told by her neurosurgeon that it is the second largest SEGA he has ever seen, lucky us.  Fortunately we were also told that if it ever grew it is operable. Zoey had blood work to find the strand of TSC she might have and at 8 weeks old it was confirmed she has TSC-2.

We had Zoey start early intervention when she was 4 months old, one of the greatest decisions we ever made. She was granted physical therapy, and we met Sonny. Sonny was Zoey’s first best friend. He came to our home 3 times a week, and Zoey just loved him. He helped us through all of the hard times. He was there for her no matter what. When we intubatedmoved from Queens, NY to Long Island, he even followed us. He made sure he found a company that also worked with Long Island early intervention so he could stay with her. He was with us for 3 years, and I cried on his last day. He will always be remembered.

Zoey also had speech therapy and occupational therapy at home three times a week. We met Hadiah, a no nonsense OT who always made Zoey work harder and still have fun, and Kelly, her speech therapist ,with whom Zoey fell in love with immediately. Her bubbly personality helped Zoey sit through her 45 minute sessions.

Zoey is developmentally delayed; she has been going to school since she was 2. Zoey has a team of therapists and teachers that have helped tremendously. Zoey can wave hello and goodbye, blow me a kiss, give high fives, climb stairs, run, jump and loves spinning to get herself dizzy. These are simple gestures that I thought she was never going to be able to accomplish. While she is non-verbal, we always have hope that one day she might find her voice.

Zoey has been through more in her four years of existence than most go through in a lifetime. When she was 6 ½ months old she started having infantile spasms, I remember calling the on-call pediatrician because it was a Sunday, and she told me, oh she’s probably just teething. Zoey would cry, and when she stopped, her arms would go above her head and her thanksgiving at columbia presbyterianeyes would roll to the back of her head while her legs crunched up. I knew it was not teething, so I called her everytime she had a spasm and had an EEG appointment made in two days.

Zoey spent her first Christmas Eve in the hospital and started a steroid, ACTH. I had to give her an injection every morning in her thigh. I remember the first time I had to do it at home. My dad came over to help me and hold her leg because I was so scared she was going to move. Lets face it, this steroid was a nightmare. All she wanted to do was eat, sleep and poop. But thankfully, because of the TS alliance, I was able to make contact with a fellow TSC mom, Cindy. She helped me get an appointment with a new neurologist, Dr. Orrin Devinsky, at NYU. He wanted her to start Sabril immediately. I am not even sure if Cindy remembers helping us, or if I ever thanked her enough because with Sabril, Zoey’s spasms stopped after the first dose and she still has to take this medication twice a day.

Zoey’s development had worsened after the spasms. She had a difficult time trying to crawl because she had gained five pounds in three weeks from the steroid, but Sonny, our superhero helped her. She was crawling at 9 months and started walking at 15 months old.

Then when she was 17 months old, Zoey vomited and turned blue. She was rushed to the hospital, where countless medications were given to her, and even a defibrillator was used on her. I thought we were going to lose our little girl. Once they put a central line in her thigh, the medication finally stabilized her after two hours, the longest two hours of our lives. They diagnosed her with Wolf Parkinson’s White, an extra electric charge in your heart causing dysrhthmia.  Zoey spent eight days in the hospital trying to find the right dose and right kind of medication to help keep her heart beat at a normal rate. She takes flecainide and amiodarone still, just to maintain her rhythm.  We spent Thanksgiving in Columbian Presbyterian Hospital that year, and you know you’re supported when your sisters and brother-in-law show up with Thanksgiving dinner, crockpots and all. We ate a very thankful meal that year for having our Zoey with us.

Well wouldn’t you know it, two days after she was released, Zoey was unresponsive again; we assume it’s her heart and call 911. She gets to the hospital, and it’s now seizures… hospitalized again, and prescribed Keppra. Well that month of December 2010 proved to be a crazy one. I stayed with my parents because they live so close to the hospital. That was a good decision because she had a seizure every 2 weeks that she could not get out of; she was hospitalized a total of eight days in December, including New Year’s Eve.

Some years are good, and some are bad. Last year, 2012, Zoey had some rough seizures. Zoey never gets out of her seizures. She always needs diastat, an emergency seizure medication, to stop the seizure. But then she has shallow breathing so she needs to be intubated…that happened six times last year. Most of Zoey’s seizures have been febrile as her immune system is slightly weakened, since she is on a newly FDA approved drug called Afinitior, a chemotherapeutic drug. Afinitor is prescribed to try and shrink a TSC person’s SEGA. Zoey’s SEGA has shrunk and is now stable. Her doctor said that she still might need brain surgery one day because of how large her SEGA is, but for now, thanks to the medication, she does not need to have any surgeries. We also had her start a vitamin, probiotic, and that seems to help her fight off any illnesses she might receive.

While my husband and I never planned to have a special needs child, we do. Now we just try to keep our sense of humor about everything, and realize she is the strongest person familywe both know. I mean when you get a needle stuck in your arm to take blood for the umpteenth time, and you just look at it, and then just start playing with your iPad like the needle is not there, that’s pretty amazing for any child.

Zoey is also one of the happiest kids you would ever meet. She is always smiling, laughing and hugging everyone. Everything she goes through has not changed her demeanor. She refuses to let TSC run her life and chooses to just be happy. Her outlook on life has helped us keep our sense of humor and live everyday to the fullest.

I like to find the humor in the fact that you never thought you would be writing her teachers asking if she had any bowel movements because of how constipated she gets from her medications. Or your mom texting you that her poop was “hard like little nuggets, I gave her some prunes.”  But it’s humorous and gets me through the hard days.

We try to find the humor in everything we do, even the hospital visits, especially when you are dealing with doctors who sometimes forget how to talk to parents. Zoey had been intubated and was being moved to PICU when her tube came out and she started crashing in the hall. They had to rush her back to the ER to fix it. Everything was fine in a few minutes, but the ER doctor turns to me and goes, “Well that was scary, huh?” Really doc, is that appropriate to say to the worried mom? And then he high fives your husband and says ,“Until next time.”  Your husband just replies back “Well, I hope not.”

Nurses have also told us that we are the calmest parents they have ever met. We have learned in Zoey’s 26 hospitals stays to just kind of stay out of the way, let them do their job and when she is stable you can hold her hand and lay with her. We remember a nurse saying, “You guys are amazing. I mean you are sitting here watching and just waiting patiently, when we have moms here who have a kid that stubbed a toe and they are freaking out.”  See, humor gets me through these times.

Our family refuses to receive a “pity party”. Instead of people feeling sorry for us, we decided to try and raise awareness for an unknown disease. We have attended the TSC walk in Wantagh Park, NY every year it has existed; this will be the fourth year. Our team is Zoey’s Entourage. All of our family and friends come and support TSC and our team has raised over $15,000.00 for the TS alliance. This year the walk is on September 21, 2013. You can find our team page below, with pictures of Zoey and her story:

http://my.e2rm.com/personalPage.aspx?SID=3720000&LangPref=en-CA

We’ve also met an amazing family, the Spears, whose daughter, Ally, also has TSC and they are the chair people for the Wantagh walk. Their family has a fundraiser every year for TSC before the walk to raise donations. We finally got to attend last year and donate some baskets for the raffles. It was a great time. I met fellow TSC families, watched people empty their pockets for an unknown disease, and win a couple of baskets as well! If you are in the NY area and want to get out and have a good time, and raise donations to help find a cure, join us or if you know a company or yourself would like to donate items to for the raffles, contact me and I can give you some information:

August 12, 2013 from 6PM-11PM.

The Nutty Irishman

323 Main Street

Farmingdale, NY 11735

 Just $10.00 entry fee, for a fun time, with live music, raffles, Chinese auctions, food and a cash bar.

 

This year our local High School’s Key Club had a fashion show honoring Zoey. They were raising donations for our family’s medical expenses and helped raise awareness for TSC. The halls were covered in blue TSC ribbons and the crowd there was their largest yet. Even the elementary school wanted to get involved and had a “Zippers for Zoey” day. They all wore zippers and if they did not have one, the teachers put zippers on pins and the kids wore them all day. The Key Club made a video raising awareness for TSC and sharing Zoey’s story. I might be a little biased, but it’s the best video ever made, it should win an academy award. The link is below if you would like to learn a little more about TSC:

http://www.youtube.com/watch?v=PEK9N4NgwEY

Our family will always raise awareness and give everything but up in trying to find a cure. Zoey has had seven MRI’s (so far), been intubated six times, has had 14 EEG’s, and too many blood tests to count, but she gets up from all of her procedures with a smile on her face. So we just take it one day at a time. Some days are harder than others, but Zoey does not let that bring her down.  She gives the greatest hugs in the world and is our warrior. I can listen to her laugh all day long. So no pity party please; we are way too busy laughing, hugging and smiling the day away.

 

Renee

Email: Rseiling3@gmail.com

Current Events, Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

An Eleven-Year-Old Takes on Capitol Hill

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Day 15 of Guest Blogging for TSC Awareness Month

By guest blogger Jennifer Silva  (Prince George, Virginia)

TS walk and KD 016Most people never forget the day something tragic happens to their child.  Little did we know September 19, 2002 would put us on a never ending journey.  What started out as a normal morning that day, ended in exhausting weeks and months of the unknown.  My first child Jared was born five weeks premature, after complications of preeclampsia.  Even though he made his debut into the world much earlier than anticipated, he was the image of health.   He weighed 5 lbs and 15 ounces, with healthy lungs and heart.  He incurred a small bout with jaundice, but other than that everything was seemingly great.

On September 19, 2002, Jared was approaching 9 months old.  He played that morning, with no warning signs of what was about to happen.  Shortly after he laid down for his nap, I heard a very odd sound coming from his room.   After a few moments, I went to see what the sound was. I was in total shock at the sight in front of me.  Jared was in a full seizure, jerking about in his crib, and foaming from his mouth.   His dad was home at the time and called 911.   It seemed like an eternity, before the ambulance arrived.   That seizure lasted more than ten minutes.   Once at the hospital, doctors weren’t sure what had caused his seizure.   His cat scan revealed what was thought to be blood.  He was transferred to a larger hospital, into a PICU unit.

 An MRI was done and we were told he had bleeding on his brain.   After several days in the PICU, hospital social workers started questioning us as to what had happened to Jared.   Jared moved down to a step down unit, and things started to get weird.  We were being treated very oddly.   Jared had been at the hospital for a week, when the local sherriffs’ department showed up and said that someone at the hospital had reported a possible shaken baby case on us.  We were in total shock. Within days we were in court being asked by a judge if this had occurred.  Of course it hadn’t.  They put the poor child through a whole body x-ray to see if any broken bones had healed over from past injuries.  The case was considered unfounded, and we left the hospital with Jared after close to two weeks has passed.  The watchful eye of social services followed.

Months went by and Jared did well on his anti-seizure meds.  An MRI follow up was done, and to our surprise, the blood was still there after months.  That’s when they knew there had been a terrible mistake.  Jared had a tuber, not blood.  A little more time went on, and at Jared’s next visit, it was discovered that Jared had odd white spots on his back under a wood’s light.  That’s when the words tuberous sclerosis came up.   Of course, back then there really wasn’t that much info out on the web, and most of it was very traumatic information.

Jared went on about his childhood under the watch of his neurologist.   He did very well, with few seizures and few tubers.  As he got older things did change some.  The skin abnormalities have come out (angiofibromas, café au lait, depigmentation, some forehead plaques), and some learning problems have been noticed.   Jared did so well on the seizure side of things; he went for years without an MRI.  Everything changed on December 26, 2011.  Jared started having seizures and was rushed by ambulance to the hospital because he wasn’t breathing.    It was determined that he had strep throat and had outgrown his seizure med levels.  An MRI was done, and they found a SEGA.  The SEGA didn’t cause the seizure, but it most likely wouldn’t have been known about, if not for the seizure, until it caused problems.

Initially he was just watched, but then we saw a pediatric oncologist who ordered a new MRI.  It had been eight months since the seizure sets, and Jared had three SEGA’s by then.  He started afinitor, and as of March 2013, his SEGAs have drastically shrunk.  In June he will have a new MRI and go from there.   Jared accompanied me to the March on The Hill in 2013.  He saw how government works, and was amazed at all of it.  We have had several publications about our story recently and I am glad to see TSC getting attention.   When I took on Chair of the TS Alliance of Virginia, I knew then that I would have an uphill battle. But with a little effort change can happen.   Jared is a typical 11-year-old child now; he has some issues, but we are grateful for all the new advancements in TS world.   His father and I divorced years ago and have given Jared a large extended family.    Jared is a special child, with lots of family supporting him.

I know one day he will help out others. He helped me stuff and mail out envelopes for our Virginia Educational Meeting in June.  He said, “Wouldn’t it be great if all these people showed up to support TS?”  The world needs more caring, compassionate 11-year-olds like Jared.

Current Events, Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

Alex’s Journey

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Day 6 of Guest Blogging for TSC Awareness Month

By guest blogger Kelly Oberg  (Merrionette Park, Illinois)

make a wish 2013 kim sd card 092Looking at Alex you would never know there is anything wrong with him. Alex has blonde hair, blue eyes and a smile that will capture your heart from the start. Alex has always been such a happy little boy. No matter what he is going through, he always has a smile on his face. Even though Alex cannot vocalize his wants and needs, we as a family have learned how to communicate with him in different ways. And being strong parents, makes for a strong little boy, who is being given the best care and love that can be given to our special little angel. There are never enough words that I could find to describe the love I have for my son Alex. In the past three years he has taught so many people so many things. He has taught me so much, that in a lifetime with him I would never be able to repay him for all that he’s taught me. Alex was born July 14, 2009,  and the moment Alex was born he made an impact on everyone around him.

We were told when Alex was born that he had two holes in his heart and a heart murmur. The doctors were very hopeful that the holes would close before he reached two years old. The holes closed by the time Alex was a year old on their own. At this time we had thought that our prayers had been answered and Alex would be fine. Little did we know that there was another plan for us. I noticed early on that Alex was not big on sleeping; he would sleep for a hour then wake up screaming. He was also not hitting his developmental milestones like normal children would. After numerous trips to his doctor, we were told Alex was normal and just had colic. We knew it was not colic that we were seeing. It was something else, but as young parents we didn’t really know what it was that Alex was doing, other than not sleeping.  Alex has always been a big child with a big head and big body; he came into our lives at a whopping 9lbs 8 oz. But as he grew his doctor was concerned about his growth being so big, so she sent us in for an ultrasound of his brain. We found out Alex had calcifications on his brain and hydrocephalus. Hydrocephalus is when you have too much fluid on or around your brain, and his doctor told us we just had to monitor Alex; if over time it got worse, we would address it then.

In February 2010, we learned Alex had severe hearing loss in both ears. After a few hearing tests, the doctors told us it was nerve damage, and they didn’t know if he would ever be able to hear. They suggested we try putting tubes in his ears. We did get the tubes in March 2010, as well as his adenoids taken out. Alex started to vocalize then. It was like a whole new world was opened up to him when he could hear.

In June 2010, while taking a bath, Alex was not acting right, so we took him into his room and kept an eye on him. This is when I experienced seeing my first seizure. At the time Imake a wish 2013 kim sd card 050 had no idea what a seizure looked like. Alex was pale and laying so still on the bed just staring at the ceiling. I remember feeling so scared. I have never felt more scared than that moment looking at Alex. Within a minute or two, Alex came out of it and went to play. We watched him closely thinking he just didn’t feel well.  The rest of the month, Alex did this three more times. The third time we decided to go to the emergency room. After describing what we saw, the emergency room doctors told us that Alex had a seizure, and because he had a fever, it was just febrile seizures. Febrile seizures usually go away when you reach age 5, but when you have a fever as a child you have a seizure. The doctor told us he would grow out of it. We were relieved that he would grow out of it and everything would be okay.  In August 2010, on our third trip to the emergency room, the doctors grew concerned because now Alex was having seizures without the fever. The febrile seizures diagnosis was thrown out the window. They admitted Alex and ran a ton of tests from blood to urine to an MRI of Alex’s brain. The very next day, Alex’s pediatrician came into the room to talk to us. She said she had the results from all the tests but wanted to look at Alex for herself with this “wood light”. I agreed, and shortly after starting she stopped and sat down next to me. She started to cry and explain to me that the hospital staff of doctors, as well as her believe Alex had a disease called tuberous sclerosis.  As she cried, she told me that Alex’s life would be very short; he would not talk, would not walk, or do things a normal child would. She told me to have Alex get a blood test to confirm this diagnosis and then make an appointment with the genetic doctor of the hospital. We did that and saw the genetic doctor on October 1, 2010.

It was in that very appointment that I found a side of me I never knew I had. I found a strength I had never seen before, as well as a voice for Alex that I never knew I had before.  After not one, but two doctors told me my son would never walk or talk, let alone do anything a normal child could do, I made a promise to Alex that I would do everything in my being to allow him to have as normal of a life as I could give him, as well as get him the best care I could as far as doctors are concerned. A few days later I found the TS Alliance and found the TS clinic in Chicago, and ever since then I have never looked back. Alex now has a great team of doctors and nurses that know us and love Alex so very much.

Over the past two years, we found out Alex has severely obstructed sleep apnea,  and that is the reason why he has not slept his whole life. Two surgeries later and Alex’s apnea is worse than when we started. Alex’s seizures have become more frequent up to six times a day, even with taking two different medications to help control them. Alex’s neurologist suggested that Alex would be a great candidate for a vagal nerve stimulator.  A VNS is similar to a pacemaker but it is for the brain. It is hooked up to the vagal nerve in the neck and sends a pulse to the brain either at five-minute, three-minute, or one-minute intervals to help control the seizures. Alex was implanted on November 26, 2012, and the VNS was turned on Dec 6, 2012. Since the VNS was turned on we have not seen any seizures at all. We are off one of his seizure medications and almost off the other. This is a long-term help that we were in desperate need of.  After an MRI in August 2012 we learned that Alex’s two SEGAS we were monitoring had grown a lot over the past three months, and Alex was a candidate for a medication called Afinitor. Afinitor is a medication that, to me, is a miracle drug. It helps people with tuberous sclerosis complex, not only with the problem they are taking it for, but in many other aspects too. See, Afinitor has shrunk Alex’s SEGAS by 20 percent in only three months of taking it, as well as helped him be more focused and develop cognitively.

We know that we as a family have a long road ahead of us, but it’s because of Alex that we have the strength to keep going. Alex has been through so many MRIs, blood tests, and hospital stays that he has shown us what a true warrior is by staying so strong during all of it. I feel truly blessed to have Alex as my son; he is one amazing little man.

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Current Events, Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

The Strength of Family Through Three Diagnoses

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Day 2 of Blogging for TSC Awareness Month

By guest blogger Paula Krischel (Dwight, Illinois)                              

Paula with her husband and three sons, Mason, Joshua and Adin.
Paula with her husband and three sons, Mason, Joshua and Adin.

My story started when I noticed my infant son, who was 11 months old, puking and seizing.  We went to our local hospital, and his pediatrician knew it was more than he could help with, so he sent us to Chicago. That was the first time we met Dr. Huttenlocher and started our long journey with TSC. Never in my wildest dreams could I imagine that I had this disorder for 26 years, and was completely unaware.

My world was falling apart. I became depressed, and my son was having uncontrollable status epileptic seizures. I not only had to learn all I could  about this disease, and the fact we had to live day by day to see how it would affect our boy, I had to learn to accept that I do have this disease and cope with the guilt I felt about giving him this terrible thing! Mason, who is now 17, ended up having global delays; he is severely affected by this disorder, severely autistic, and will never have the ability to live an independent life. We started with therapy at a young age, but did not see much progress for many years.

We were feeling compelled to have another child, feeling Mason needed a sibling to help him learn. We prayed a lot and had Joshua. Joshua is now 14, board scholar, and wants to one day be a geneticist and work in gene therapy. As of now, he shows no signs of having tuberous sclerosis, and he wants to one day find the cure for it.  We have advised him to get genetic testing done when he decides to have a family.

When my Joshua was 10 months old, I found out I was pregnant again. Eight months later I had Adin. I was not as comfortable about this pregnancy because we were planning on stopping at two. We found out through ultrasound, at seven months along in the pregnancy, that he too would have that terrible disease called tuberous sclerosis.  We did a lot of praying, and even though he is autistic and has global delays, he is a ray of sunshine who can brighten anyone’s day.  He is considered mild/moderately affected by this disease.  He is able to communicate with us, but his older brother is very limited in his speech. Even though he started out with infantile spasms at three months, we have been able to keep his seizures under control fairly well for 13 years. He did have a breakthrough grand mal once, when going through a growth spurt. He has been under control again since 2009.

We have spent countless minutes with doctors, tests, speech therapy, occupational therapy, music therapy, physical therapy, behavioral planning, making safety plans for at school and home, and the list goes on.

Now our latest scare is me.  Recently I found out my tuberous sclerosis is wreaking havoc in both of my kidneys. I get to start the new medicine Afinitor to see if we can save my cyst-filled kidneys from getting any worse.  Both of my boys are on it as well for SEGA brain tumors. This is the first time I have been seriously concerned about my own health.  I am the main caregiver of my boys because my husband is a very hard-working plumber, who works diligently so we can pay for all the expenses this disorder accrues. There never seems to be a very long break of good health in our family, but because of this disorder, we are stronger, more loving, and cherish all milestones that we conquer! For that I am thankful to TSC. Even though our  life is crazy, and the stress seems to pile up constantly, I would not change my life for one second…and continue to look forward to the future!!!

Check out her son’s post here.

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