Tag Archives: tuberous sclerosis complex awareness

Guest Bloggers For TSC Awareness Month, Tuberous Sclerosis

For all we have lost, there are great treasures that remain.

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Day 29 of Blogging For TSC Awareness

by guest blogger Rebecca Thereault

For all we have lost, there are great treasures that remain.

image-12Tuberous Sclerosis Complex (TSC) hijacked our daughter’s genome. Like the lowliest of thieves, it stole from an innocent baby.  It’s haul?  A base pair on her TSC2 gene on her 16th chromosome, to be exact. Two tiny amino acids that shifted her genetic code and forever hindered her ability to suppress tumor growth in her body.  Funny thief–one that gives more than it takes.  What TSC took has caused tumors to grow in her heart, brain, skin, and kidneys; it has caused epilepsy, heart failure, autism, developmental delay, and more.  It’d be easy to hate such a thief and sometimes I do give in to the loathing. What I have learned, what Kaleigh has taught me in her 5 and a half years, is that for all we have lost, for all that TSC has taken, for every hurdle, for every burden, we have also gained.

Before I go any farther, I need to pause here and clarify my image-14dangerously close to sounding Pollyanna statement that I have gained things from TSC. TSC is a devastating, incurable (currently) disease.  I am not thankful for what it has done to our daughter. It has nearly taken her life on more than one occasion. AND, I have gained things as an individual, we have gained things as a family, that I and we would not have otherwise.  I could write about the seizures, the MRIs, the hospital stays, the therapies, the behaviors, the terror of it all, the need for more research, the scientific advances, or why this disease should matter to you. In some ways those issues are easier to articulate–there is a concreteness. But, when I think of what the presence of TSC in our lives has really meant and truly taught me, I think about the “and” of life. It is the idea that there is no darkness without light, no joy without pain, there are and must be both. Kaleigh and TSC are inexplicably entwined–it is literally weaved through the double helix of her DNA.  AND, she is not TSC.

image-13 I was 29 weeks pregnant when the ultrasound technician said she needed to call down a specialist because there was something wrong with our baby’s heart.  It was the first time we were introduced to TSC.  It was as though a vortex opened and sucked away all our hopes and dreams and left us empty and terrified.  Perspective, and time, have changed these memories for me. I see now the seedlings of “and.”  We were devastated and hopeful.  Terrified and determined.

At the time, it felt like a lie to even smile. I was stymied by the image-15darkness, the anger, the overwhelming devastation.  I told no one at my baby shower, only immediate family knew.  I spent the day opening presents for a child I was told may not survive.  I smiled for the camera as I checked my watch because I had to run back to the hospital to receive the second of two shots intended to develop her lungs and give her more of a fighting chance.  All I was able to focus on was the insincerity of my joy. Now I see this was my first introduction to the “and” of TSC. Both were true.  I was terrified and excited.  I was alone and simultaneously surrounded by love.  This would be our life with Kaleigh and TSC–the presence of two seemingly opposite experiences coexisting.

image-16Kaleigh was born pink and screaming, and it has been one wild ride since.  The overwhelming joy of taking her home matched with the horror of a PICU stay for heart failure.  Over the past five years, we’ve experienced innumerable times when we were faced with two seemingly opposite and incompatible experiences vying for our attention.  It was a struggle for me to find the joy amid so much pain.  What I found is that life is in the balance. It is in the “and.”  If I let my anger at TSC overcome me, then I am blinded to the appreciation, pride, and joy of seeing Kaleigh achieve and progress.  If I succumb to the stress and fall apart after she seizes for two hours straight, I miss her tiny waking first word of “uh-oh.”  If we accept that there is no cure, then we lose hope and the drive to keep raising funds and lobbying for research.

With TSC we have lost much of the simplicity of life, yet have gained a rich complexity.  We have gained the camaraderie of others who walk this journey with us.  My view of life has widened.  When I look at others, I think of the “and.”  I wonder what is behind the anger of that not-so-nice lady in the checkout at the grocery store and I try (some days are easier than others) to offer grace.  The “and” has reverberated through our family. Our son is quick to help other children and befriend those who are often excluded.  At the same time, he has spent many a night crying after nightmares of his sister seizing. My husband and I have worked to raise awareness and fundraise for TSC research.  And we have worried and lamented over the never-ending medical bills.  No where is the “and” more apparent than in Kaleigh.  Her love for life is as palpable as the heartbreaking panic she experiences at the mention of the word doctor.  She is loss and hope personified.

Joy and pain.  Love and hate. Jubilation and sadness.  Dependence and freedom. Trust and betrayal. Jealousy and contentment. Life and death. Fight and acquiescence. These are the lesson I have been gifted. Our life with TSC is heartbreaking and beautiful. Most of all it is a balance–what we have lost AND what we have gained.

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Guest Bloggers For TSC Awareness Month, Tuberous Sclerosis

Scars Do Not Define Us

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Day 28 of Blogging for TSC Awareness
by guest blogger Katie Eliot  (Durham, England)

Hi!  I’m Katie, I’m 35 and I have TSC.  My TSC story should have begun when I was a baby, but a series of events put off my diagnosis until much later in life.

Doctors realised that there was something very wrong with my heart while my mum was in labour.  Mum told me that the delivery room was like and episode from M.A.S.H and soon after I was born I was whisked away for test after test.  It was assumed that I had aorta stenosis and I was scheduled for open heart surgery at three weeks old.  The surgeon opened me up, saw I actually had a rhabdomyoma (a heart tumour associated with TSC) and they realised that, without a heart transplant, it was unlikely that I would survive.

But survive I did!  However I wasn’t diagnosed with TSC as my paediatrician told my mum that “I was too intelligent to have tuberous sclerosis.  Unfortunately, back then mum had no idea how ridiculous that statement was!

So I went through childhood like most other kids.  At age 7, I moved to South Africa and rarely thought of my operation as a baby.  If I ever did, mum would say, “it could be worse, you could have tuberous sclerosis!”  South Africa was a wonderful place to grow up, but in 1992, our family moved back to the UK.  I did my GCSEs and passed with flying colours. However my life changed completely during my A Levels when, aged 18, I became very poorly at school.  I had many tests including a brain scan which showed the tell-tale tubers of tuberous sclerosis.  My world fell apart as for 18 years I had thought myself TSC free.

I think I was in denial for a while, but I finally got in touch with the Tuberous Sclerosis Association in my early twenties.  However, my tango with tuberous sclerosis was far from over!

Eight years ago, after many, many years of pain, surgeons realised I had a tumour in the joint between my right collarbone and sternum.

In August ’08, I underwent a 11 hour surgery to remove a section of my collarbone and graft a section of my fibula into my chest.  It was at this point that I realised I couldn’t ignore TSC any more and I went on my first TSA Outlook Weekend.  It was amazing and I instantly made life long friends.  Little did I realise at that time that one of those friends, Andy, would become the love of my life.

I went on to have five surgeries until it became clear that the grafts were never going to work properly.  It was decided that I needed to have my collarbone completely removed.  So, two weeks ago, on 14 May 2015, I went down to theatre to have it taken out.  I can honestly say that I was utterly petrified!  A few hours later, I was in recovery and I was in far less pain that I had imagined.  After a few days, I was allowed to leave hospital and go home to continue to recover.

I’m getting stronger every day and I am amazed by how little pain I’ve had.  I still have a long way to go, but I’m getting there!

But, I’m not done there!  From something so painful, was born something positive.  Some time ago, someone told me to cover my scars, in case “I offend someone!”  Well, I thought, “Stuff that!” and I decided to make it my personal  mission to help to stamp out negative body image.  Hence, Sport Your Scars was born!  I set up a Facebook page and I posted a photo of my scars.  The response was amazing!  It’s only in its infancy, but I truly believe that scars do not define us and that EVERY woman is beautiful, irrespective of her shape, size or skin tone.

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If you’d like to follow my story, you can find me on Facebook or follow my video log on YouTube here: https://www.youtube.com/channel/UCLgMCfg-HVY1xms6iBVvR8Q

Also, you can lend your support to the #SportYourScars campaign by backing our Thunderclap here: https://www.thunderclap.it/projects/26780-sport-your-scars?locale=en

Guest Bloggers For TSC Awareness Month, Tuberous Sclerosis

Identical Twins Diagnosed With TSC

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Day 27 of Blogging for TSC Awareness

by guest blogger Jobina Antochow-Piekema  (Clairmont, Alberta, Canada)

2012-11-09_16-31-07_926At our very first ultrasound we were given the great news we were expecting mono/di (identical) twins.

During a routine ultrasound at 25 weeks, we were told the twins both had cardiac rhabdomyomas and a possible diagnosis of tuberous sclerosis. At 28 weeks pregnant after fetal echos, ultrasounds and meeting with a geneticist she recommended we transfer to the USA and have an abortion as we were given the absolute worst case scenario of TSC. I immediately said no…these boys were moving, growing, and thriving inside and we knew we would take our twins however God chose to give them to us.

I was put on bed rest due to high blood pressure and stress. At 31IMG_8916297196671 weeks I was flown to Edmonton, Alberta Canada from our home in Grande Prairie, Alberta and at 32 weeks on September 23, 2012 I delivered our identical twin boys via emergency c-section. Layton Dale was born at 10:58 pm and at 10:59 PM Landon Walter arrived. After seeing them briefly they were whisked away to the NICU for evaluation. They were doing well and holding their own. Layton spent 35 days in the NICU AND Landon 41 days.

Life at home was an adjustment, but we managed until we had a follow-up cardiology appointment around 6 months of age and were told their hearts were still strong and the cardiac rhabdomyomas were not affecting their heart function. We began to breathe a little easier. The cardiologist believed the twins were in the 30th percentile that did not actually have TSC.

So life went on! We lived, we thrived! We lost my dad to cancer in March of 2014, twelve days after I married my husband. Then two months later we lost my husband’s grandma. It was an emotional rollercoaster. As things finally started to somewhat normalize, we had a follow-up with the twins’ neurologist who wanted to book them an MRI but believed they were in the clear. We left Edmonton happier than we had been in months only to have our world crash down around us ten days later.

We were camping and Landon woke up from his nap having what we assumed were seizures.  We knew right away…we hadn’t escaped TSC. We called 911 and we were life flighted to Edmonton. Watching my son cluster seize for 45 minutes at a time changes a person. After ten days in the hospital, CT scan, kidney ultrasound, opthomolgist, and MRI we were told by doctors tuberous sclerosis.  We knew…it wasn’t a surprise, but at the same time it was a shock. We asked so many questions, we cried so many tears,  we were worried about Layton. Genetics met with us to do blood work to see the test to identify the gene mutation in the twins…spontaneous TSC1 is their official diagnosis.

FB_IMG_1423273687587We were discharged not having the seizures under control, but once we had control we went almost five months seizure free. Then the seizures started coming back, but they were different. At first I doubted what I was seeing, until I looked into my precious little boys’ eyes and knew. We added another med and have seen great success.  We are almost six months seizure free.

Landon is progressing well all things considered. He has heart and brain involvement and some ash leaf spots. Layton has been cleared of any cardiac rhabdomyomas and has some ash leaf spots.

We have lots of appointments we have to travel for. We have no idea what tomorrow will bring. I am slowly starting to let the twins out of my safety bubble. And I am slowly starting to become somewhat human again. Having to grieve the loss of my dad, my husband’s grandma and my healthy children has taken a huge toll on me…all I want is to be the best I can be for my boys. We always pray for a mild case of TSC but know it is all in God’s hands.

Honestly,  some days it all feels like a bad dream. I wish I had the cure. I have met some amazing moms through the TS Mommies group on Facebook, and although we are miles apart, these woman have become my friends, my family and my go-to people! I treasure you all.

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#iamtsc #tscawareness #tscwarriors #piekematwinstscjourney #punchtscintheface
Guest Bloggers For TSC Awareness Month, Tuberous Sclerosis

Not the Healing I Wanted, The Healing We Needed

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Day 26 of Blogging for TSC Awareness

by guest blogger Katie Nguyen  (Rancho Santa Margarita, California)

When I was a teenager I would quietly slip into my sister’s bedroom at night and pray for God to heal her.  I remember the last night I did this.  The last chance I gave God to heal my little sister.

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But let me back up for a minute.  I suppose it would help to tell you about my sister first.  My sister Alicia was born with tuberous sclerosis, a disease with no known cure and an unfair cause, genetic mutation.  In her early months of life she would have up to 100 seizures a day.  Twenty-four years, two brain surgeries and uncountable medications and attempts at managing the side effects of her illness, seizures are few and far between.  She is nonverbal but communicates her needs well, and despite having 1/2 a brain, she has mobility on both sides of her body, though it is limited and she requires regular physical therapy.  I am not going to share more about the specifics of her disease, I am going to share about the side effects.  Not Alicia’s physical or developmental side effects but the effects her disease has had on our family.

In the foreword of The Hardest Peace by Kara Tippetts, Joni Eareckson Tada writes:

Everyone has a story.  While sitting in my wheelchair for more than four decades, I’ve heard a lot of heart wrenching stories poured out in personal blogs, articles, books or face-to-face.  Sometimes, though, people who suffer become so meshed in the details they hardly see the forest through the trees-for them, trying circumstances become an inconvenient stump or fallen log that only blocks their path to happiness. The latest medical report and PET scan are the trees of their day.  They cannot see, let alone convey, the larger story.

It is a honed art, as well as a spiritual discipline, to be able to step back from the details and see how our own stories are woven into a much bigger one…God’s story.

In the early years of Alicia’s life our family lived among the trees.  Alicia’s illness, paired with another major family tragedy, sent our family whirling into surviving and grappling for reasoning.  We were on the horizon of a new “normal” and we were all learning to embrace it in our own way.

When Alicia was an infant I remember holding her while my step-mom went to make a bottle in the other room.  A feeling of panic would come over me as she started spasming in my arms.

“She’s having another seizure,” I would exclaim.

An exasperated voice would ring back, “Just hold her.  I’m almost done.”

The reality set in for both of us.  A mother that could do nothing to stop her seizing infant.  A sister feeling helpless as she watched her sister suffer.  The rawness of not knowing how to support each other besides just forcing each other to be present in the hard moments became our “new normal”.

But I suppose I never did completely accept the hand that God dealt.  I felt it was His job to heal Alicia.  His duty to make things right.  We were a good family.  A church going, God loving family and He doesn’t let this sort of thing happen to people He loves, right?  So I prayed.  And prayed.  I prayed at Church.  I prayed every time she had a seizure.  I prayed at night quietly by myself at her bedside.  And then after that last night of praying for healing, that night I gave God His last chance to heal her.  I stopped praying for healing.

I lived for years in anger and frustration with God.  But slowly I came to realize the bigger picture.  That bigger picture comes through the actions and example of my parents.  The bigger picture comes into focus through the memories of family vacations done just like any other family, in annual ski trips with a modified ski seat for Alicia, in holidays that will always have childhood magic because of Alicia’s developmental stage and my parents willingness to meet her right where she is.  The bigger picture pieces together with adult sons (my brothers) willing to drop anything to help, even if that means carrying 120 pound Alicia in her wheelchair 40 feet through the sand so she can see the ocean and giggle at the wind in her hair.  The bigger picture makes sense when we see that through the years we have all come together in accepting our “new normal” and chose to love the best we could.

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It’s hard for me to think that a God so great would allow such suffering for one little girl, a big girl now.  It’s also hard for me to fathom the joy and kindness and acceptance and love He has brought out of the rest of us as a result of this girl’s suffering.   It’s all a tough thing to accept and it’s impossible to make sense of.

Perhaps the healing I prayed for didn’t happen how I had wanted.  Alicia is not healed in the traditional sense, but she is happy and her suffering is minimal (relatively speaking).  She is loved, so loved.  Her disabilities have helped us to discover our own abilities.  She has inspired a family to do hard things because she has only ever known hard things. She has helped us to step outside of ourselves and step into loving with no expectation of getting anything in return.  She has molded us, encouraged us, and inspired us to be better people.  It’s not the healing I prayed for, but maybe it’s the healing God intended to bring to our family.  Maybe its the beauty he intended for us to discover out of the brokenness Alicia was born into.

By Katie Nguyen, blessed to be sister to Alicia Hardie.

Guest Bloggers For TSC Awareness Month, Tuberous Sclerosis

A Dad’s Perspective

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Day 22 of Blogging for TSC Awareness
by Kelsey and Justin Hudson  (Moon, Pennsylvania)

Justin #1Many mother’s experience TSC on a personal level daily. They’re home with their child that they’re terrified to put in daycare or attending appointments that are almost daily. But then there’s husbands, whom are hard at work. Always making sure there’s a roof over their families head, food on the table, and the health insurance that their jobs bring in is a sheer blessing.

Last year I wrote our story, “Wyatt’s story”, but this year I wanted to do something different.  I decided to do a Q&A with my husband and look at TSC from a dad’s perspective.

1) What went through your head when you first heard the doctors tell us Wyatt had TSC?

“I had no idea what it was or what it meant. I knew he had tumors in his heart and I was scared for him.”

 

2) As a working dad, what has been the hardest part of your journey Justin #2with TSC?

“Being at work when you have to take Wyatt to the hospital and appointments all the time. I wish I could be there for him. And I wish you didn’t have to do it alone.”

 

3) What is your biggest fear with TSC?

“That Wyatt will always struggle with things for the rest of his life and that I can’t fix it.”

 

4) If a child was newly diagnosed and their father reached out to you what would you tell them?

“Find the best hospital to take them to and do your research.”

 

5) What has been the happiest moment you remember with JJ and Wyatt since Wyatt’s diagnosis?

“Seeing them play together and smile with each other.”

Justin #3
Guest Bloggers For TSC Awareness Month, Tuberous Sclerosis

For the first time in my life, things were not in my control.

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iamtsc

Day 21 of Blogging for TSC Awareness

by guest blogger Debdatta Bhattacharya  (Portland, Oregon)

I had always been in control of my life. I faced challenges but I knew if I work hard I will get over them. I was born in India into a loving family and had an amazing childhood. After I completed college I wanted to come to the U.S.A. for pursuing my PhD in physics. My parents were not happy with my decision because it was so far away from home. But I was adamant; it was my life right ? After a couple of years of coming to U.S.A, I married my college sweetheart. Six years later, both of us got well paying jobs at Intel in Portland, OR. Life was good. Finally it was time to sit back and relax and enjoy all those years of hard work at grad school. In 2010, our first born, our daughter Bartika arrived in our life. Oh what a joyful time that was, the exhausting but delightful days of nurturing her and caring for her, the ecstatic feeling of bringing new life into this world.

In 2013, I got pregnant with my second child. We found out it was going to be a boy. Everyone was excited, “oh you will have one of each”. We personally didn’t care; we just wanted a healthy child. I started planning, like I have for all other major events of my life. We sorted through all our daughter’s toys, separating infant toys from toddler toys, packed them in separate bags. I hired someone to help me out in the first few weeks after baby #2 arrived. I can’t believe it now; I even almost planned the weekly menu with her so that there would be one less thing to do.

On my 37th week of my pregnancy, we went for a routine ultrasound. I was excited to see him one last time before actually holding him in my arms. After the ultrasound, my doctor came in the room and told us “there is something wrong with the baby’s heart.” Those words and her voice still ring in my ears. We were quickly packed off to be seen by a neonatalist. He had no idea what was going on other than the fact that my baby had unusual thickening in the wall of his heart. We were told that there is no guarantee he will make it out of my womb. Such cruel words told with such heart wrenching indifference. I felt like someone just stabbed me in my chest. My child was still kicking inside me; how could any of this be true? Later that night, we got a call from a pediatric cardiologist. He said it looks like your baby has “tuberous sclerosis” (I first thought he said tuberculosis). That was the first time we had heard this term. The doctors wanted to do a c-section, but they wanted to wait a few more days to give him a chance to grow a little bigger. The little signs around the house that showed our readiness to welcome the new baby came back to bite us. The new baby clothes delivered at our door step, the unopened car seat, the toys, the laid out crib seemed to mock us. For the first time in my life, things were not in my control.

The inevitable question of “why me” kept me awake at night. We were told “law of nature” by the doctors. But we had been good to nature, recycling, reusing, installing solar panels, driving a Prius, you name it, then why us? We have given to charity, been reasonably polite with everyone, been sincere and honest in our job, then why was our dream of a perfect life being shattered so ruthlessly. I haven’t found any answers yet. But with time I have realized that most people are basically good and nobody deserves to go through this pain. But life happens and other than gracefully accepting it we don’t really have much of a choice.

blog-2We had a faint idea that TSC could affect our child in multiple ways but at that point of time we were concentrating on his heart tumors. We went to Seattle Children’s Hospital so that he had all the heart surgery options if he needed any. My beautiful boy Arij, was born on 7th April, 2014. Miraculously he did not need any surgery or medication. All the doctors had told otherwise but he proved them wrong. It was overwhelming because my arms were empty and my baby was in cardiac ICU (just in case) and a bunch of MRIs and ultrasounds were being performed on him. I had about 48 hours of absolute happiness till the doctors came back and told us he had tumors in his brain. For the first time after his diagnosis, I opened the internet and started reading about TSC. I had intentionally stayed off because before his delivery there was nothing much to do with all that information anyway. I saw terms like, seizures, developmental delay, mental retardation, autism, mentioned in a matter of fact way all across the internet. My heart sank and I cried and cried. Was I not allowed to enjoy even a few hours of my baby’s presence before being engulfed in worries again? While I recovered from my c-section, I tried to make sense of all this information. We came back home after staying for 12 days in the hospital. The first night we spent at our home as a family will always be etched in my memory. It was such a happy feeling to be home as a family for the first time, no hospital smell, no monitors, no doctors.

My husband spent the next few weeks in doing extensive research on infantile spasms and what it looked like. We had realized that we can’t control everything but we will control whatever little we can. We installed a motion detecting video camera over our son’s crib so that we could detect the first signs of infantile spasms. We prayed that we never detect anything but unfortunately around two months of age he showed some early symptoms of infantile spasms. He was started on sabril and everything was under control again. I took time off from work and took care of him. A bunch of therapy sessions started around 4 months. He was doing wonderfully till he was about nine months. That is the time when new seizure activity started. More tears, more heartbreak and more panic followed. He started falling back developmentally. The local neurologist was unable to control his seizures. Arij being his sweet self, of course just smiled through this all. We finally decided to take him to Cincinnati TSC clinic. I am so glad that we took that decision. The medicines were changed and he was put on new medicine. It took a while for him to react positively to the medicines. Patience is not my forte but life taught me to be patient. He is doing much better now but he still has some seizure activity. He is still delayed developmentally but he is making steady progress. We celebrate all his milestones. We have learnt to find happiness in the smallest of moments. We are going to start him on afinitor soon with the hope that it will control the remaining seizure activities that he is having.

blog-4It is still difficult for me write down the positive aspects of this experience. I have lived most of my life without TSC and I was quite happy. TSC has taught me a lot of things but I wouldn’t have minded leading the rest of my life without these learnings 🙂 One of the key things is of course that I have to let go of things and situations and I can’t control everything. The other is patience. I keep working with my son on a certain skill, day after day without seeing the desired result. But when I get there, I can’t describe the satisfaction and sense of achievement that I get. I also got to know the true color of many of my so called friends. Some have abruptly discontinued all contacts with me and some have stepped up to give me emotional support. We will continue fighting this battle with Arij. Amidst all these uncertainties, there is one certainty; he will always be surrounded by unconditional love.

Guest Bloggers For TSC Awareness Month, Tuberous Sclerosis

Grateful

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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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Guest Bloggers For TSC Awareness Month, Tuberous Sclerosis

TSC and Me

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Day 16 of Blogging for TSC Awareness
by Victoria Newberry  (Texas)
IMG_1290As I prepare myself to write this, I thought about how to represent my son and I realized that I can’t do it. I can’t write for my son because deep down I am still hoping that he will be able to do it on his own one day and I don’t want to take that chance away from him. So this story will be about me, about a first time mother who came face to face with this unknown called TSC.
We waited a few years before deciding to have a child. As the youngest, I’ve never been around pregnancy or babies. Needless to say, I was nervous. I joined a pregnancy website, read anything and every thing, went to pregnancy classes; I even interviewed doctors to be my son’s pediatrician. When he was finally in my arms, it was the happiest and the scariest moment in my life. I was, and still am, responsible for this tiny human being. I was a mother. The pregnancy website continued to be an infant “guide”. When they should be doing this or that, what you should be doing this day or that day, what exercises to do, what to feed, everything was planned. Then, he developed severe eczema at 2.5 months and I felt my world shattered. I did everything right, didn’t I? Did I use the right soap? Detergent? Did I let his skin get too dry? I kept on blaming myself, I got angry a lot, I was frustrated. Looking back, I think this period prepared me to face what was about to happen in a few months. My control-freak self would’ve lost her mind had it not been for this “transition period”.
March 2014, we got our diagnosis, my son has a genetic disorder 20140207_125126called TSC, it’s incurable. I remembered feeling numb, my head started organizing my thoughts. That’s how I cope: I analyze, I make plans, I figure it out. I asked for an explanation on what we would be expecting, how wide is the spectrum, what’s our game plan, what do I need to do in the immediate future. I had to get into action cause I knew if I stopped to think for a second, I would break down. I allowed myself to cry one time when it was just me and my husband, our son asleep in the metallic crib. I started reading about the disorder, gathering all the information I could to prepare me for what was to come. Joined facebook groups, talked with other parents in the same boat, trying to somehow convince myself that it will work out.
One year later, I’m a changed person. We never got seizure control, except for a few weeks earlier this year, after going through 6 medicines in different combinations, and I’m okay. My son is severely delayed and we recently had to put in a feeding tube because it was not safe for him to eat by mouth, and I’m okay. My days are filled with therapies, doctor appointments, keeping a journal (seizures, sleep, feeding, diaper count, body temperature, etc.), and working with my son at home. Guess all the skills I learned being an admin paid off, I have excel sheets full of tables and charts. My smartphone calendar became indispensable. I learned to let go of things I can’t control, and to maximize my efforts on things I can do something about.
I learned to not let fear of the unknown conquer me. Sure I get stressed out every now and then, and I feel like I sometimes I can’t breath, but then I gather myself together and put a smile on my face. They say a smile goes both ways, sometimes it comes from the heart and other times it warms the heart. I smile cause my son needs me, I smile cause my husband deserves support just like the support he’s given me. I refuse to drag them down in my sorrow and frustration, so I learned to let go. I learned to fight the battles that can be fought, and not worry about those that are not here yet. It doesn’t mean I don’t prepare myself for them, for the chance that my son might develop a new type of seizure one day or that he may never be verbal, but we’ll cross that bridge when we get there. I learned to trust more in my support system, to listen to their counsel, to be open to suggestions, to accept help. I am alone, yet I’m not lonely in this journey.
IMG_0879TSC made me a better stronger person. I just wish that it didn’t have to be at the expense of my son’s health. I am hopeful still that he has a chance at “normalcy,” but I’m prepared to face whatever comes our way. After all, what is “normal?” Merriam-Webster defines it as “usual or ordinary.” Life with my son is our “normal” and I wouldn’t have it any other way (well, that’s a lie, I would want him to not have TSC). You may be in our lives, TSC, but you do not define who we are!
Guest Bloggers For TSC Awareness Month, Tuberous Sclerosis

Tuberous Sclerosis Complex Awareness Day “Thingie”

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Day 15 of Blogging for TSC Awareness Month

by guest blogger Julia Gray  (Atlanta, Georgia)

I’m supposed to write about my identity.

Frankly, that’s easier said than done.

I’ve been told that INFP personalities,

Like me,

Have a hard time getting their thoughts and feelings

Out of their heads and into real life.

In the words of Holden Caulfield,

I can’t explain what I mean.

And even if I could,

I’m not sure I’d feel like it.

But I might as well try.

I am tumors

Surrounded by a body

A brain

And a vast imagination.

I am an annual MRI visit.

I have to lie completely still, quitting my twitching and itching for an hour while I lay inside a huge metal cylinder that takes pictures of the problem areas.

I am an uneven heartbeat

Belonging to a heart that wants to dance away from its problems

Or just write or draw them into oblivion.

I am the constant fear that when I zoned out just now I had a seizure and didn’t notice.

I am a lot of things.

An imagination.

Unending passion.

Personality.

I’m not just a cluster of tumors.

They say I’m a rarity,

An unfortunate privilege for people like them.

Unfortunate for me, that is.

They love it.

When my disease, my tumors and I walk into a room together, and the putrid medicinal smell pervades my nose,

We are involuntarily attached,

And they thrive on it.

I’m like a scientific oddity.

They are an undesired gift

For them and their white coats to gawk at and inspect.

I am known as my disease.

But I am not my disease.

Or my tumors.

I am a victim of it.

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Guest Bloggers For TSC Awareness Month, Tuberous Sclerosis

Bailey

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Day 13 of Guest Blogging for TSC Awareness

by Becca Patterson  (Greenwood, Mississippi)

My name is Bailey and I am 5 years old. I was diagnosed with TSC when I started having seizures at 5 months. I’ve had almost every type of seizure there is but currently my seizures are under control.

I have tumors & tubers in my brain, small tumors in my kidneys, and every skin abnormality associated with TSC. I am non-verbal, physically and mentally delayed, and autistic.

I am also beautiful, silly, sweet, and a spit-fire. I am TSC.

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