Tag Archives: Genetic disorder

TSC and Me

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!
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Unconditional Love

 Day 3 of Blogging for TSC Awareness Month

by guest blogger Caroline Clyborne Ramirez  (Austin, Texas)

image4-2Since our son, Leif, first learned to talk, we’ve been drilling him on a basic call and response:

“Why do I love you?”

“Because I’m your son.”

We did this because we wanted him to know that he was loved, no matter what. He had our permission to be lost and a knucklehead while figuring himself out. He could worry about other problems, like having to eat vegetables and sharing. He did not need to worry about courting his parents’ love.

Then, my daughter was born. At four months, we learned that Colette had a diagnosis– tuberous sclerosis. She had about 20 benign brain tumors and epilepsy. We didn’t know if she would be smart or independent. Our blank slate of a baby came with no guarantees.

The grief and terror of the first couple of months were intense. I image7wanted to pull away. I wondered if I could ever love this child like I loved my son. What had I told him? “I love you because you’re my son.” I’d promised him. Could I sincerely offer that to my daughter? I felt like a fraud.

Life got busy. I stepped away from my career and into the life of a medical advocate. Colette had weekly PT, OT and eventually speech therapy. She had frequent overnight hospital stays to adjust medication any time we saw seizure activity. There were eye appointments every 3 months because her seizure control medication endangered her vision. We drove to Houston every image6three months to participate in a clinical study. The insurance company required weekly hounding to cover the basics. It was only the beginning, and already, the tasks made me a busy bee. My son loudly demonstrated his frustration with the redirection of my attention. I tried to be enough and constantly fell short. I worried that our sleepy, medicated baby was the most flexible member of the family. Her big blue eyes sparkled, and she never complained.

It’s an odd thing to be given an open-ended diagnosis. There was no adjusting to the news. The hope and despair pulled me up and brought me down like a roller coaster– tea leaf predictions from smiles and gas. I wanted to either grieve or enjoy my child. The image2“what ifs” of the future were easy to Google, from skin lesions on her face to LAM in her lungs. What if she can’t learn and spends the rest of her life in diapers? What if she develops behavioral issues and hits us? My one life experience as a substitute teacher in a Special Education had taught me that was NOT my population. I did not reach out to moms with older kids whose fates scared me. I clung, tooth and nail, to the shallow end of the pool and hoped we would never have to drown.

I was in constant fear that she would take a turn for the worst and we, as a family, would not be okay. Meanwhile, Colette was a bright-eyed and happy baby. She splashed the water in her bath and gnawed on her Sophie giraffe. It was a bizarre juxtaposition. Colette was the poster child of innocence. I was her strung out Mom. In tiny slivers of clarity, I dug my nose into her neck and smelled her yummy baby smell. Regretfully, I often saw TSC more than I saw my daughter.

That was when she had seizure control. When that ended at 10 months old, my nightmares developed a physical form. I took detailed notes of what movements we saw and sent them to the white coats in this army. Please, I said. Please protect Colette. Our precious baby continued to smile, but she almost never babbled.

Even though we were creeping toward the chasm that I’d feared would swallow our family, I felt calm and sad. I acknowledged more publicly what was happening, and wept big tears as I faced how little control we had over a disease that had no cure. Colette had good days and bad days, and so did I. I spent my time taking her to appointments, arguing with insurance, and trying to keep things normal for our family. I felt depleted and I felt despair.

I realized at some point that my nightmares were a very loud image3statement to both my kids. Colette’s imperfection had made Mommy sad. TSC was in her DNA. Colette, by simply being born, had brought TSC and all of its challenges into our home. Her sweet demeanor may have been lovely, but it was a consolation, a kindness that momentarily offset a mountain of pain. She had more to worry about than having to eat vegetables, and even more to worry about than experiencing seizures. She had caused her family to suffer by means of existing. Something was terribly wrong, and that something was within me.

There was a woman on Facebook with a daughter who was cognitively two and physically 25. She kept posting proud mommy posts, and she baffled me with her acceptance of her child. I didn’t understand her, but something in me was shifting. I realized that a 2-year-old is lovable and delightful. My expectations of her child– that her child act 25– imposed onto her child’s existence something presumably painful that might not be real.

As I thought about her child, I was flooded with memories of my beloved Grandpa. Grandpa had Parkinson’s. He was sweet. He threw a purple foam ball back and forth with me. I didn’t “know better” that he’d lost something. I just loved him, and he loved me. Maybe I didn’t need the conditions I had for loving my child. Maybe I could just love my child.

As my eyes opened wider, I became aware also of how my vanity bled into my relationship with my son. He was so smart. He was so handsome. My pride appreciated pieces of him he never chose for himself. It was an easy mistake to make. In a family of nerds, his brains made him feel like our boy. However, he was getting extra credit because of his luck– because I was proud of his gifts.

How unfair of me. My job was to help him develop his character, and my preference for his smarts added conditions to my love and modified my expectations of him. His sister aside, I saw a rot forming in my parenting. Colette’s condition challenged my vanity and made me see both kids more clearly.

Humbly, as a flawed person mid-stream, I am challenging myself to change what I expect of both my kids. I am going to love them both because they’re my kids. I am not going to give Leif extra credit for being smart, and I am not going to turn Colette’s existence into a burden anymore. I’m just going to support her health as she needs and enjoy her in the present, stripped of all the disparaging “shoulds” that diminish her humanity. If I need to, I’ll think of Grandpa and find a way to throw a ball to my daughter. I’ll appreciate the day she can throw it back, but I won’t love her more for it.

I’ll keep love simple. That way, my kids can stop worrying about the quality of my love and start focusing on the road in front of them. When I whisper in my daughter’s ear that I love her, I now really know the answer. I love her because she’s my daughter– no matter what.

Brain surgery is coming this month. Finally, we’re ready.

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A quick and easy favor to ask…

April 15 is approaching and that is the deadline for your representative to sign the Dear Colleague letter to fund the Tuberous Sclerosis Complex Research Program. And that’s pretty much all you have to say…that as one of their constituents, you want them to sign ASAP.  If you suffer from, or know someone who suffers from it, you can personalize it. If your only experience is through this blog, please feel free to share about Connor. This is my most recent follow up to my representative. It was quick and easy to send:

Dear Representative Price,
I’m writing to urge you to sign the Dear Colleague letter to fund the Tuberous Sclerosis Complex Research Program. The deadline is April 15. This research doesn’t just help those afflicted with TSC. It also helps those with traumatic brain injury (which is why this is funded by the DoD), epilepsy, autism, many cancers, diabetes etc. In February, I met with you, along with two other constituents, Reiko Donato and Wendi Scheck, to urge you to sign this. We also shared letters and personal stories with you from several other constituents who are also dealing with this genetic disorder that causes benign tumors to grow on the organs. We are counting on you to represent our needs in Washington. We are eagerly watching the growing list of signers, hoping to see your name appear.

Thank you,

Not sure who your rep is? Look here. Then just go to their site to get their e-mail!

Thank you for your support!Image