Tag Archives: Tuberous Sclerosis Complex

A Glimpse into the Journal of a TSC Mom

Day 23 of Blogging for TSC Awareness

by guest blogger Kaci Kennedy  (Woodward, Iowa)

A glimpse of my last two days thanks to TSC.

May 17th, 2015. In to do mode. Pack the van. Must hydrate Porter. Push Pedialyte. He will gladly drink the sugary drink all day long. Drive four hours to our nearest TSC clinic. Try to check into hotel. Realize your ID is not in your wallet. Hold back tears but minorly freak out you may need to drive all the way back home. Go back out in the rain and search the van. It’s found! Check into hotel. Try to sleep with a 22 month old and his little 5 month old sister.

May 18th
6:15am Wake up all, get dressed, drive to yearly MRI.

image1-37:30am check in. Porter is historically a hard poke to get in his IV. The MRI team is ready for that. Nitrous Oxide. A special team to put his IV in. They get it the first time. Praise the Lord! (Last time it took over two hours with many many different interventions.)

8:30am He goes back as they put the medicine in his IV, his IV slips. Must put in another one. Porter screams and screams and screams. Finally he’s asleep.

8:30-10:30am I wait. Little sister sleeps. I’m typically as far from an anxious person as possible. Easy going, go with the flow. People with anxiety are a puzzle to me. Except during these two hours, anxiety makes sense. Will he have a SEGA? What will his kidneys look like? Did the fluid around the brain increase? I have a fear they will find something major and we will have to stay at the hospital. Again crazy thoughts. So highly unlikely but with tsc you never know. My thoughts are attacked.

Continue to wait…

10:35am  My guy is back. Sleeping still.

11:00am slowly he awakes in my arms. He’s ready to walk and wants to run away, but his body says not quite yet.

11:30am We get the okay to go get lunch. (Let me tell you the talent of a mom to feed herself, a 22 month old and breastfeed a five month old simultaneously)

1:00pm We go to the TSC clinic to meet with his neurologist. He shows off his recent tricks. He walks, he throws balls, he kicks balls. He says his one word often with much enthusiasm…GO! The dr asks where is the ball and he delightfully shows him he knows where that is. Porter plays and we all sit in amazement of the huge strides of development he has made since our last visit.

I get out my list of questions. The doctor and nurse are wonderful in answering each. Are those facial angiofibromas? Is this forehead plaque? What treatment do they recommend? His next status seizure what should we do? Recommendations on how we should minimize risk? What about eye exams and Sabril (my nemesis)?

We get to the MRI…no segas…my heart can breathe again. (Exactly it’s pretty spectacular that my heart can do that because it should beat but in cloud nine it breathes life.) No major growth and kidneys look overall good.

2:30pm Start the four hour drive home. Contemplate a stop at IKEA
but the two crying babes dissuade me quickly. Pray that we won’t be back for a year. Pray that the seizures stay at bay. Pray that no strange behaviors bring us back in Porter’s case extreme sleepiness. Thank God for the joy he has placed in Porter.

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Grateful

Day 19 of Blogging for TSC Awareness

by Shannon Hanks-Grandia  (Riverside, California)

DSC_0244Twelve years ago I first heard the words tuberous sclerosis complex and my life was forever changed. I do not have TSC, but my husband and three children do, Rob (38 years old), Rylee (14 years old), Jake (11 years old) and Luke (8 years old). Each is unique in their manifestations and levels of severity. As a spouse and a mom, I have been to countless doctor appointments, lived through numerous hospitalizations, watched my son fight for his life, attempted medication after medication and a diet to try and control seizures, battled and continue to battle the school district, had my child scratch, bite and yank out my hair in an attempt to communicate and felt defeated more than I care to admit. But through it all I have been surrounded by an incredible family, friends and a community that supports with love and understanding.

I did not ask for this journey, and to say that I would not change a thing would be a lie.  If given the choice, I would NEVER choose this road. Yet, there are many things in life that we do not ask for, but life goes on. Our job is to find the joy, hope, strength and love to make a positive impact not only for those we love, but for others traveling a similar journey.

DSC_0208This last year my husband and I have been given the opportunity to be Adult Regional Coordinators with the TS Alliance. This is a position that simply allows us to try and support the adult community. In our attempt to support others, we have been given so much. It would be impossible to name the many extraordinary adults that we have met and the profound impact they have made on me as a spouse and a mother. I love my husband with all that is in me, and although his manifestations tend to be more on the mild side, TSC is there. To watch him speak to and connect with other adults is simply beautiful (not sure how else to describe it).

Then there is the impact these incredible individuals have made on DSC_0213
me as a mother. The future is uncertain, this disorder is unpredictable, yet our community is strong and filled with fight. I have met young women that will one day be my daughter. I hear about their trials and their triumphs and they teach me how I can help my daughter navigate her own TSC journey. I see young men whose manifestations are medically and behaviorally severe. Watching their smiles and joy of life, despite the obstacles and meeting their caregivers and how they have traveled this journey is empowering.

DSC_0222Over these last 12 years I have come to terms that my children will never be “normal,” yet that does not mean that I do not still mourn for what my children will miss out on life because of TSC. With that being said, it does not mean that I cannot celebrate the life that we have been given. I have a unique privilege of watching my husband and children make a positive impact each and every day. I see the people that are touched by their smiles and strength. And most importantly, I see them show the world that being different can be amazing!

Despite the obstacles there is so much to be grateful for. I am grateful that those of us traveling this road have the privilege of learning to celebrate the little details of life that most overlook. I am grateful for the amazing man I married and the three extraordinary children that he gave me. I am grateful for those that have traveled this journey before us and are helping to pave the way for a brighter future. I am grateful for the Alliance and the individuals that have committed their lives to the fight, and one day the cure, of TSC. I am grateful for daily smiles and the understanding and love of those around me. I am grateful God allowed me to be their mom. Simply said, I am grateful for life!

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You are not winning, TSC.

Day 2 of Blogging for TSC Awareness Month
by guest blogger Mary Garnett  (Roanoke, Virginia)

10530697_10152504883715700_7231308209995918033_nI was just 24 weeks pregnant when the words “tuberous sclerosis complex” were muttered to my husband and me, and pamphlets about this disorder were thrust into our hands by the doctor. They found cardiac rhabdomyomas on my otherwise healthy baby boy in utero. From that point on, I had biweekly monitoring by multiple doctors, scanning every bit of our child to detect any other marker of TSC and they did not find anything, even after a fetal MRI.

Our little boy, Owen, made his appearance on March 16 at exactly 1619175_435903126574175_3888823022529246311_n40 weeks. Everything about labor and delivery couldn’t have been more perfect and our son scored wonderfully on Apgar and hearing. After four days and some NICU monitoring, we were able to take our little man home to enjoy. We didn’t realize how soon that would change.

Three and a half weeks later, I began noticing a twitching of Owen’s r11046409_447237978774023_1711788437182916419_night arm. I had done my research on TSC and the different types of seizures I should be on the watch for. Intuition was telling me these WERE seizures. My husband was more optimistic, but the twitching was increasing, so off to the pediatrician we went. Following that appointment, we were immediately sent to be admitted at the hospital after our pediatrician got to witness what I had been seeing all along.

Multiple tests including a lumbar puncture and bloodwork came back normal. It was not until a VEEG was done that we got our confirmation that these were indeed seizures. A brain MRI the next day then officially diagnosed our son with TSC after finding multiple tumors in our son’s brain. You know when four doctors, a chaplain and social worker walk into your hospital room at the same time, that the news can’t be good. Owen was started on his first anti-epileptic medication that same day. We were thrilled when it worked from the first dose and were excited to go home, thinking this was the end of seizures for Owen. That medication worked for three days.

Multiple seizure types, six medications, one diet and one brain surgery later…

Owen is now 13 months old and experiencing freedom from seizures for the first time since he was a newborn. How has someone who just celebrated their first birthday been through so much already? How does he continue to smile and play despite seizures wreaking havoc on his development for 11 months? Because this kid has strength and spirit that only God could bestow.

We don’t know what the future holds for Owen, but we don’t care. He has taught us that no matter the battle, the strength to continue on will always be there for him, and for us that is enough. You are not winning, TSC.

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He is happy. He is loved.

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

Happy Birthday, Little Man!

Two years ago at this time I had no idea how much my life was about to change. I mean, I had some idea considering I gave birth just a few hours prior after a spectacular epidural after checking in the night before to be induced as a precaution related to findings on the ultrasound.

Right now, two years ago around noon, Connor was off being checked out. He was having the ordinary newborn exams, but he also had a cardiac exam by a specialist due the abnormalities found in his heart ten weeks earlier. They had never grown or become problematic, so by the time ten weeks went by, Chris and I thought it was some flukey thing that would require monitoring, but nothing more.

I did not know that in a few hours Connor would begin seizing, or that he wouldn’t go home for 37 more days.

I did not know we would be returning for brain surgery in four months.

I did not know he would develop infantile spasms in five months.

I did not know he would be developmentally delayed.

I did not know that as I had walked around for the first 30 weeks thinking, “lucky me! No morning sickness!” that chromosome 16 had mutated right away resulting in the later development of heart rhabodomyomas and brain tubers.

I did not know what tuberous sclerosis complex was.

What I know now is that Connor is awesome and funny, loves books and is the coolest, most adorable two-year-old on Earth.

HAPPY BIRTHDAY, MONKEY! YOU ARE KICKING TSC BUTT!

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Looks like we’re trying the modified Atkins diet.

IMG_5584Sigh. I really hoped this wouldn’t be necessary, but the last increase in Onfi didn’t make much of a difference and we’re still at 1-4 seizures most days. I e-mailed his neuro and asked if he thought there would be any point to another increase, or should I just bite the bullet and move forward on the diet. I knew when I sent it what the answer would be since he had brought up the possibility of the ketogenic diet a few weeks ago. I was relieved that at least he thought modified Atkins was a reasonable alternative to keto. Not that I think MAD will be easy, but just the thought of keto intensely overwhelms me.

I keep reminding myself that if it works, it’s worth the extra effort, and if it doesn’t, we only do it for a few months. We”ll be meeting with a nutritionist at the CHOA keto clinic to start.

But if it doesn’t work…then what?

We’ve tried seven different medications, and even more effective cocktails only decrease seizures — they don’t stop them altogether. Sure, there are more meds we haven’t tried, but as I shared in my previous post about medical marijuana:

…less than 1% of patients who failed to respond to three anti-seizure drug regimens achieved adequate seizure control on subsequent drug treatments even though some were treated with as many as nine different drugs or drug combinations. -WebMD

I’m going to start this diet fully optimistic that it will work. Because if it doesn’t, the other options are to explore surgery again or live with the seizures. Sure would be nice to have the option of pediatric cannabis in Georgia. Please watch this clip from The Doctors in which Paige Figi explains what a miracle it has been for her daughter with Dravet Syndrome.

I am also seeking guest posts from people who are either legally using medical marijuana to treat their children, or are seeking it’s use — possibly entailing a move to another state. E-mail pin.the.map@gmail.com.

Petition for legalization of medical marijuana in Georgia.

A Few White Spots

Day 10 of Guest Blogging for TSC Awareness Month

By guest blogger Annaka Vimahi  (Utah)

I have wanted to be a mother as long as I can remember. You can imagine the heartache my husband and I experienced when we didn’t have our first child for almost 9 ½ years. I Baby Viliami 092felt so much joy when our son finally arrived, but I also felt a twinge of fear. I couldn’t explain it. I just didn’t feel that everything was all right. After Nami’s birth I was told both apgar scores were 9, and I tried to have that great news reassure me that we had a healthy boy. It didn’t. I just couldn’t shake the feeling inside me that something was wrong. I tried to convince myself that it was just because I wasn’t used to receiving good news, considering many challenges I’d had up to that point in my life. I tried to tell myself that I was being a pessimistic person and that I should enjoy my dream to be a mother finally coming true.

A couple of significant things happened in the hospital after Nami was born that didn’t seem quite so significant at the time. First, he basically came out arching his back. My mom questioned my dad (Nami’s pediatrician) about it. I could see my dad trying to keep an open mind and discussing many possibilities of why this was. One was that sometimes babies with neurological issues do that. Second, a CNA noticed a weird heart beat and notified the other staff. An EKG was ordered and the results came back as normal. We left the hospital being told we had a healthy baby boy.

I kind of succeeded in being able to relax for the first three weeks of Nami’s life, enjoying lots of cuddle time. When Nami was three weeks old, I took him to my parents’ for my DSC00515 (2)sister to take some pictures of him. Near the end of the photo shoot, I noticed two white spots on the back of Nami’s leg. I am embarrassed of my reaction now, but at the time I started freaking out. I started to cry and ask, “How could my beautiful child have to have such ugly spots on his leg? Are they birthmarks? Is it vitiligo? This is so unfair!”

I remember badgering my dad with questions about the marks. He remained calm like he always does when I’m frantic about something. I told him that I had had a dream about my son having vitiligo and I just knew that’s what it was. He told me not to get ahead of myself, but that he would call the dermatologist and see what he thought. I left that night feeling angry that my son’s physical appearance wasn’t perfect. I thought, “How could this happen to us after we endured so much before he arrived?”

Over the next couple of days I noticed more white spots appearing. (I now know that Nami was born with the white spots, but as his jaundice went down and the pigment of his skin appeared, the white spots started to appear.) We finally heard from the dermatologist who suggested using a cream to see if it was eczema and we could clear it up. I was a bit suspicious that my dad wasn’t telling me everything so I pressed him about what else these spots could mean. He said that sometimes spots like this could be ashleaf spots and are a sign of a very rare neurological disorder, but that he didn’t want me to have to worry about that until we ruled out eczema. I let the issue go, but I felt that my dad was trying to protect me from something he knew was a possibility…something that was really bad.

For the next couple weeks I put the cream on Nami religiously. I checked his spots multiple times a day and even convinced myself at one point that they were getting better. Then I checked the next day and they were still there, as clear as ever. We made an appointment to see the dermatologist. I continued to feel like my dad knew more details than he was telling me. I feel now that he was hoping that he was wrong in thinking that it was TSC and he wanted to get the dermatologist’s opinion before verifying the horrible news.

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While at the appointment, I could quickly see that we were not going to receive good news. The dermatologist tried to mask his sadness for us as he confirmed that the white spots were ashleaf spots and that he felt our son likely had Tuberous Sclerosis Complex (TSC). He printed off a couple of pages from one of his medical books to read over. I felt my body instantly go numb. I couldn’t believe this was really happening. That night I cried and cried and cried. I hugged Nami tight as my tears drenched his head. The dermatologist and my dad tried to keep reassuring me that there was so much variation within this disease and not to think of the worst. But, there that feeling was again. I knew something was horribly wrong. I felt my child would have it all.

It’s amazing to me how little I knew about TSC at the time considering the knowledge I’ve gained with my new obsession over the last four years. I recorded my thoughts in an email to my family the next day:

“So, what do I know?  This is most likely a genetic mutation that can cause many problems. The problems range from neurological problems such as Parkinson’s and seizures to a 50% chance of mental retardation. ADHD, autism and tumors on various organs such as the brain, heart and kidneys are all possibilities. Major skin problems, eye problems and teeth problems are also possibilities. It’s difficult for us to know what Nami will have to endure until he gets some testing and experiences things as he grows. Dad is a lot more familiar with correct side-effects than I am. My mind is not too sharp right now, so I don’t want to say something wrong. I know the biggest thing we need to do is some genetic testing. It seems that dad also told us of about 5 specialists we’d need to see right away. We’ll need to get an EKG and brain wave test, an MRI and eye testing as well as some other tests that I can’t remember. He will have to get an MRI and eye test yearly. Whew…this is overwhelming!

This summer will be very different than what I expected and it’s only the beginning. I kinda feel like I deserved more of a break than I received with struggles, but I guess that’s selfish. Salesi and I have been through so much and grown through it all. During our most difficult times I felt that we were being prepared for something else. Those thoughts SCARED me but I guess I was right. It seemed quite a pessimistic view on life, but I’ve learned to be very tentative with good news. I’ve learned to try not to get so excited because it seems like disappointment is always around the corner. Throughout Nami’s birth, I took all good news in stride but had a dull gnawing sense that I didn’t know everything. My thinking throughout his short life and in the past has been that our child would be autistic. I am wishing that was it. I am wishing that what was first a disappointing discovery of what I thought were birthmarks were just that. My perspective on life has changed in an instant. Now I can see that ALL the difficulties I’ve experienced in my life have prepared me to be ready to take care of this special child. I am not shocked at this news although I can’t express the heartbreak I feel. I think I was prepared to receive this news so that I would be able to stay sane and make the choices I need to that are in Nami’s best interest.”

0501011136So far it has been a really tough road for us. Nami didn’t get the easier road with TSC (I say that knowing that “easy” and “TSC” do NOT belong in the same sentence). We have been told he has hundreds of brain tumors (no one is able to count exactly how many because there are too many), both cortical tubers and numerous SENs. He has an eye tumor, dozens of heart tumors (including one on his mitral valve which makes his blood kind of backwash), kidney tumors and cysts, and he already has 3 skin manifestations of the disease. He started having infantile spasms when he was 4 months old and has endured seizures most days of his life. He is currently having anywhere between 100-300 seizures daily despite being on 4 anti-epileptic medicines. We have made numerous trips to the ER due to seizures we cannot stop. Most of the time he is admitted. Our son has stopped breathing twice and had to be intubated and life-flighted both times. Nami is autistic. He can only say a few words and most of the time he only says them with prompting. He has major behavioral issues and at times he lashes out and can be destructive. He does not have good sleeping patterns. I feel like Nami would be much worse off were it not for my dad, though, the best pediatrician in the world (no I am not biased =).

I think back on the day I first saw Nami’s white spots. Oh how I wish now that the marks had just been birthmarks. It’s Boys photos 2012 250amazing how perspectives change so quickly. In a few short weeks I went from being extremely vain to wishing for all my son to have is some simple marks on his skin. Despite all of Nami’s challenges, I would not change him for anything. He is the light of our lives. He endures so much yet he smiles and laughs a lot. He loves his little brother. He sees the world in a unique way and teaches us to take time to see things his way too. He brings light to everyone who comes in contact with him. He hugs people. He makes us want to be better people. Every accomplishment he makes is a HUGE celebration. He is a FIGHTER! We are so blessed to have him as our son.

Please check out Annaka’s blog at www.afteritsoaksin.com