Tag Archives: God

Not Alone

Guest Blogging for TSC Awareness Day 9

 By guest blogger Jennifer Simmans  (Dallas-Fort Worth, Texas)

Profile PicOn a lovely day in the spring of 2009, my husband and I walked through the doors of the Tuberous Sclerosis Clinic at Cincinnati Children’s Hospital.  I was, on two previous occasions, accompanied by my mom, but this was the first time for my husband to come with me since our wedding in 2008.  After checking in, we went to the waiting area where I saw the usual scene: a handful of patients, mostly children, accompanied by their parents.  Some were in wheelchairs, some were sprawled out on the floor playing with toys, and the moms looked on with such evident love and care.  We found some empty chairs in a corner of the room, and as we were sitting down, I noticed a woman sitting alone.  She wore a red shirt, black shorts, and had the familiar signs of someone with TSC.  I have two noticeable patches of angiofibromas on my face; this woman’s face was covered.  I struggled to peel my eyes away from her, not because of the angiofibromas, but because of the sadness that pierced my heart upon seeing her.  This adult woman was all alone at the clinic.  No loved ones accompanying her, no child in attendance, no spouse there to hold her hand.  Mixed with the sadness was an overwhelming sense of gratitude as the thought struck me – I’m not alone in this. While I so often dwell on the negative aspects of life with tuberous sclerosis, I take heart knowing that with each step, with each turn of the page in this story, I’m not alone.

~~~

My mom describes the spot on my face as a red, vein-like mark when I was born that developed into a strawberry-shaped patch by the time I was in grade school.  The area on my neckline developed over time until I was in junior high, and the shagreen patch on my back started appearing and spreading over the course of those same years.  My childhood involved occasional treks from doctor to doctor trying to get at least some idea of what these things were on my skin.  Anytime we would visit yet another doctor, the response was either a blank stare or the man awkwardly fumbling through his ancient medical tome.  Each visit ended the same, with my mom sighing and us returning to the parking lot with questions still unanswered.

Fast forward a few years to my early twenties.  I graduated from college in 2004, and spent the next year deciding on what the next phase of life would entail.  After weighing different possibilities, I opted to pursue a masters degree in counseling. My then-boyfriend-now-husband and I individually decided to apply to the Southern Baptist Theological Seminary in Louisville, KY, where he would receive a Master of Divinity in pastoral studies and I would work towards my Master of Arts in counseling.  Just prior to our move in the summer of 2005, my mom informed me of a new dermatologist she was seeing and suggested that I make one last attempt to see if he might shed some light on my skin abnormalities.  She accompanied me to the doctor’s office, and the difference from previous doctor visits was remarkable.  Within ten minutes of him looking at my skin and fingernails (a couple of my nails have visible tubers underneath), he looked me straight in the eye and said, “I’m pretty sure you have tuberous sclerosis, more commonly referred to as TSC or TS.”  He then ordered a biopsy of the shagreen patch on my back.  Just like that, days later, I had an official diagnosis.  The dermatologist didn’t want to overload me with information, but gave me a few pointers and places to begin my personal research.  He also recommended lining up a variety of doctors after moving to Louisville to begin the process of having additional tests run.  A few months after the move, once I was a settled and had medical insurance in place, I researched dermatologists in the area and was able to get an appointment fairly quickly.  The dermatologist I met with confirmed the TSC diagnosis, and ordered scans for my heart and kidneys, as well as an MRI for my brain.  Up until this point, all had assured me that these tests are protocol.  I was given the assurance that medical concerns were pretty minimal as I was in the small percentage of individuals whose manifestations of tuberous sclerosis are limited to the skin abnormalities.  The scans of my kidneys, heart, and lungs came back clear, so the doctor assured me that I could wait several years until being tested again since there weren’t any concerns.

The same dermatologist called me one evening after two weeks of waiting for the results of the MRI.  I was scheduled to be in a night class on campus, but all plans for the evening came to a halt when the phone rang.  I could hear the hesitation in her voice. The radiologist found a tuber on my brain roughly 5mm in size.  While the spot was not of extremely considerable size in and of itself, the location was of concern.  There was also the question of whether or not it would continue to grow since this was my first MRI at 23 years of age.  The dermatologist then strongly advised that I get in touch with a neurologist, and also instructed me to have an MRI performed every six months to a year for the next three years so that we could detect whether or not the tuber would continue to grow.  The weight and uncertainty of such news was paralyzing.  What if something goes undetected?  What if I develop additional tubers elsewhere?  The questions came to mind like rapid fire as I sat in shock on the couch in my living room.  I will never forget the quiet that came over my apartment after hanging up the phone.  It was as if the air in the room had escaped and I couldn’t move.  My boyfriend came over and spent the reminder of the evening at my side.  I don’t recall having ever wept as much as I did that night.  However, once the tears finally ceased, I again recall the stillness.  Only this time the stillness was accompanied with a sense of peace.  Not only did I have the comfort of my boyfriend’s presence there with me, but I knew in that moment that I was in God’s care.  All I had ever known and been taught came into focus as I was reminded that God knew this day before it happened, that I was His child, and that I could rest in His care.  That assurance—as frail as it seemed in the moment—was the only thing that prevented me from falling over the cliff into despair.

Over the course of the next year, I was lined up with a neurologist in Louisville who referred me to Dr. Franz at the Tuberous Sclerosis Clinic.  In 2006 and 2007, my mom and I took the short day trip to Cincinnati and met with the clinic staff.  The more I met with the team of doctors there, the more helpful information and encouragement I received.  While there were still very real concerns with my diagnosis, I had a bit of assurance knowing that my case was so minor.  More and more research showed that many patients have far worse ordeals to face in contrast to my own struggles.  The additional MRIs indicated that the tuber in my brain had not grown, therefore, doctors felt it safe to wait several years until ordering the next scan.

Two short months after marrying my husband in 2008, I had a malignant tumor removed from a salivary gland in my mouth.  While the link to TSC wasn’t certain, the nurse at the Tuberous Sclerosis Clinic said there was still the likelihood that it was related.  My husband and I were deeply relieved when we learned that the tumor was fully encapsulated, and further tests or treatment weren’t necessary.

I made the decision in 2011 to have a CO2 laser procedure performed to try and remove some of the angiofibromas from my face.  After having the procedure once in 2011 and again in 2012, I can’t say that much has changed.  The dermatologist who performed the laser procedure informed of the possibility that there wouldn’t be long-term results, and she was right to warn me in advance.  Skin tends to have a mind of its own, and the tissue is going to respond to a laser as it will.  While I was quite disappointed with the lack of results, I can at least say that I tried.  There is also always the possibility of trying a different doctor or researching whether or not a different procedure would be a possibility.

We moved back to Texas this past January, and with that will likely come finding new doctors and perhaps scheduling the next round of scans in the near future.  I am amazed that over seven years have passed since this journey first began!

~~~

The greatest blessing through this journey has been my husband.  I recall sitting with him shortly after receiving the news of those first MRI results, and him feeling utterly powerless to fix me.  He wanted me whole, free from sickness and complications, and he was powerless to change the situation.  And yet, he stayed.  When I told him soon after that he was free of this burden, under no obligation stay with me long-term, he chose to stay.  We entered into marriage knowing the difficulties we would face.  He chose to marry me knowing that our “normal” would look very different from everyone else we knew.  We had to have conversations early on that many couples we know never have to face.  We aren’t asking the question “Can we have kids?” but instead “Should we have kids?”  My husband is adopted, and the relationship he has with his parents encourages my heart.  They chose to take him in as a newborn orphan, giving him a home and name, which displays so beautifully the love that God bestows on His children.  Even before my diagnosis, we knew adoption would be on the table if we ever got married.  While we long for children, and while I have days when I long for that experience of carrying a child, we know that God has the plans for our family in His hands.  Any child we welcome into our home will be a gift, and at this point in our life together, we do feel compelled to pursue adoption.

God has blessed me in ways that often move me to a humble gratitude.  Nothing I have been given have I deserved.  I am surrounded by family and friends who support and encourage, most of whom respect our decisions pertaining to how we will eventually grow our family.  And I quite honestly don’t deserve my husband.  He loves me despite my imperfections, despite the ongoing, open-ended questions related to TSC.  He knew our family would likely look different than that of others, and he married me in spite of all of that.  My husband is a daily reminder that I am never alone.  I cannot be driven to despair over TSC because of the Hope that supersedes all pain and sickness that come with this life.

“But we have this treasure in jars of clay, to show that the surpassing power belongs to God and not to us. We are afflicted in every way, but not crushed; perplexed, but not driven to despair; persecuted, but not forsaken; struck down, but not destroyed; always carrying in the body the death of Jesus, so that the life of Jesus may also be manifested in our bodies. . . .Though our outer nature is wasting away, our inner nature is being renewed day by day. For this slight momentary affliction is preparing for us an eternal weight of glory beyond all comparison, as we look not to the things that are seen but to the things that are unseen. For the things that are seen are transient, but the things that are unseen are eternal.” ~2 Corinthians 4:7-18

For those of you reading this who have the support of loved ones around you—Praise God for that, and praise Him that you have such tangible evidence of His care and comfort.

For those of you who—like the woman in the waiting room at the TS Clinic—are alone in this, I pray for you.  I pray that you will come to know the hope and comfort from the God who will never leave you alone~

We Hit the Jackpot!

Day 7 of Guest Blogging for TSC Awareness

By guest blogger ZZ Mylar (San Antonio, Texas)

My husband and I always knew we wanted a big family.  After the birth of our first child, we waited just a year before trying again.  And kept trying.  And kept trying.  We were EPM 1heartbroken to find out that we had “secondary infertility” and that it would be difficult for us to get pregnant again.  After three more years of every procedure imaginable trying to conceive and countless prayers, God led us to adoption.  While adoption is a wild ride unto itself, we were blessed to be led to Las Vegas, Nevada for the birth of our second child … Emily “Presley” Mylar . . . what a Vegas win!  Her birth parents had been through some rough times and while they loved her very much, they knew they could not care for her in the same way that we could.  We were overjoyed to bring her back to our home in San Antonio, Texas, and our four-year-old daughter was thrilled to be a big sister.

Presley ruled the roost since day one.  She was vigorous and outgoing even as an infant.  She talked early, crawled early, and walked at 10 months old.  Starting at about 18 months, we thought she had hit the “terrible twos” early.  But she never outgrew them!  Her tantrums started getting worse and worse, and I would get a sinking feeling in the pit of my stomach when she had one, convinced that something was wrong.  I even half jokingly told a friend of mine, “I bet she has a brain tumor!”

At age three and a half, Presley started having absence seizures.  Except we didn’t know what they were.  We thought she was ignoring us on purpose and being passive aggressive for a change.  We even punished her after these episodes.   Finally I called the doctor about what was happening and she had us come right in for a CT scan.  We got the call that night that Presley had TSC.  Of course this started endless research on my part and many doctors appointments to follow.  We saw a geneticist, neurologist, dermatologist, ophthalmologist, dentist, therapist, psychiatrist and a cardiologist.  We began trying seizure meds and finally went to the TSC clinic in Houston where they confirmed what all the other doctors had already told us.  Presley had TSC.

EPM2This diagnosis began to explain her crazy behavior and the white spots on her skin.  We found that she had tubers in her brain and we could expect a yearly brain MRI and renal ultrasound.  We were told that her heart was clear, but we should expect kidney and lung issues and tubers on her face, nails, eyes and teeth.  Her mental development could be stunted.  She may not lead a normal life, only time will tell.  Until then, hang in there, they told us.

Through the next couple of years, we did our best to manage her behavior, though it was very trying for all of us.  Luckily, her seizures stopped after a year (though the doctors assure us that they’ll be back with a vengeance at some time).

At age five, Presley began kindergarten, and we found out that she was very smart but had many social limitations.  This is when we began ADHD meds and her life (and ours) changed.  We began to see the sweet Presley we knew was in there somewhere and she began to make friends again.  Our family continued to grow (we have six kids now – yes, God has a sense of humor!) and the house was actually more peaceful than it had ever been.

Today Presley is an active fourth grader.  She takes quite a cocktail of meds each day to keep the Sweet Presley on the forefront and the Impulsive Presley buried down.  From Zoloft and Intunive, to very high doses of Focalin, we get a lot of looks and raised eyebrows from other doctors, but it is what is working for us.

As with many kids on ADHD meds, school gets the best of Presley.  By the time she gets home, she is tired and cranky and we’re not quite sure what to expect day-to-day, though EPM3this is getting better as she matures.  We found that she really needed an outlet to let off some steam and boy, did she find it!  Her impulsivity and anger are heightened being in tight spaces, but when she hits the soccer field, no one can stop her.  She has moved from YMCA teams to a club team here in San Antonio where she plays at a grade level higher than her own and at the top level of that age group.  She makes all As in school and gets excellent marks in leadership, manners, helpfulness and CONDUCT.  She has become a leader in her religious education classes and is wonderful (most of the time) with our younger children.  We could not be more proud of her.

I have been very hesitant to post on the TSC facebook pages because I realize how blessed we are.  I read about parents watching their kids struggle in school, socially or even to dress themselves.  I see posts about surgeries and hospitalizations and hear of drug therapies we know nothing about.  And I don’t feel worthy of telling our story.  My little girl has a pretty mild case of TSC, but it has hit our family hard.  We are blessed that she is bright, has not had kidney issues to date and has limited growths on her precious face, but her future health is not clear.

Whether we are dealing with mild or severe cases of this disease, we all have one thing in common: We want to kick TSC’s butt!  Our family prays for all of you affected by this disease.  We pray that Presley will continue to excel, to go to college without being tied to drug therapies and social boundaries, and to have a long and happy life.  We love our Presley . . . our big Vegas win, and we will fight for her to win against TSC.  Either way, we have truly hit the jackpot.

Diagnosed With TSC Less than a Month Ago

Day 5 of Guest Blogging for TSC Awareness Month

By guest blogger Heather Lens (Stillwell, Oklahoma)

I’m not sure where to begin except right here…

Our world forever changed on April 13, 2013. It actually kind of started the Wednesday before, right before church. I was feeding Maddie and she kind of had a twitch, but it Heather's familyhonestly didn’t look like anything more than that. By Friday I started noticing a small trend. She was twitching when she was getting tired so I went straight to the pediatrician. They were going to refer us to a pediatric neurologist in Tulsa for an EEG to rule out seizures. It was going to take a week to get into them. At the time it seemed like a good thing…If they aren’t getting us in that day it must not be anything too bad. Once again, they weren’t crazy seizure like activities.

By Friday night, Chris and I had noticed these movements were looking worse and her face was making different movements that we did not like. Saturday morning we headed straight to St. Francis Pediatric Trauma Center. It’s the nearest children’s hospital to us. We figured that they would be the best place to go if something was wrong, since it was a children’s center. They quickly got us admitted after seeing a video of one of her episodes, and that’s where everything went a little blurry. The first round of testing began… They drew blood to check her blood levels. They were thinking her potassium, electrolytes or sodium may have been off which could cause seizures. They then did a 20-minute EEG. Maddie did great with the test. She laid there like a champ as they hooked her up to 30 or so electrodes. I think Chris and I were hurting worse at that point. Seeing your beautiful perfect daughter hooked up is an awful feeling. Later on that day the doctor came in and broke the first part of our not so great news. Her EEG was abnormal and they confirmed that she had a diagnosis of infantile spasms which are caused by hypsarrhythmia. It’s where the brain sends of chaotic brain signals. Even though we thought something may be wrong, the news hit us like a ton of bricks. They were going to need to put on a EEG for 24 hours and monitor her by video as well.

The placement of the 24-hour EEG was the worst thing I have ever been through. Maddie was screaming, and Chris and I could only sit there and look at her while she was in such distress. It was the most helpless feeling ever. She ended up being on the EEG for over 30 hours. On the third day of our hospital stay they were going to do an ultrasound on her kidneys and abdomen to look for tumors that could be caused by a disease called tuberous sclerosis. They said that some babies who have IS can also have tuberous sclerosis. They also wanted to do an MRI to take a look at her brain. After finally getting the 24-hour EEG off, they took her back for her MRI, which was under sedation. It was another experience that no one should have to go through. She screamed as they sedated her and was fighting sleep so bad. She finally gave in and they took her limp body back to the room. My husband and I both broke down. Watching our perfect little girl look so lifeless was absolutely heartbreaking. We later got the results back from the ultrasound that there were no tumors on her ultrasound and we were thrilled! We just knew her MRI would come back clean. Unfortunately, we were wrong. The MRI came back with tumors on it. This news was the most devastating news our ears could hear…We looked down at our baby girl with tear-filled eyes. We didn’t understand how this could be happening to her and our family? She has been healthy and had been hitting her milestones. How on earth could this be real? After emotions of hurt, sadness, guilt and many more, we felt the prayers and realized that these conditions just make our precious girl that much more precious. We let it all out and then turned our eyes to the only one who can comfort us, God. We knew that we had been put in a crazy spot for a reason. God had entrusted Chris and I to take care of this precious girl because He KNEW THAT WE COULD DO IT. What an honor to be her parents! We know we have a lot of work ahead of us.There will be a trial of medicines to try and stop these spasms, and unfortunately TSC will be a condition she lives with. That being said, we know some people live a normal life with this disease. We are hoping for that, but will not be discouraged if that isn’t her path. We will change our normal and make it a new normal. I dislike the word normal anyway…Who wants to be normal? Not Miss Maddie!

“Whenever God gives you a gift, he wraps it up in a problem. The bigger the gift you have coming, the bigger problem you will receive. But the wonderful thing is that if you look for the gift, you will always find it.”

Please check out Heather’s blog at www.chrisandheatherplusone.blogspot.com

Tonight I feel angry…

1. I’m not honest enough.

I had a blog once that was painfully blunt. It was my outlet for five years when I battled depression and anxiety. That battle actually went on for more like 10 years. Some friends stuck it out. Others found me too aggravating, and I was aggravating. But they can still go to hell. I’m good now and have been for several years. I was delightfully sarcastic and dark in that blog. Or at least I think I was, in my own little world. I didn’t tell family I had it. It’s long gone since the day a disgruntled employee at Journalspace intentionally sabotaged the server, destroying an entire online community. The one and only time I backed it up was two months prior to that fateful day. I wanted to print it once, but it was over 500 pages. Sometimes it’s hard for me to be completely open in this blog because I use it as a forum to raise awareness for Connor. This means family and family friends read it (although as I discovered tonight, my brother hasn’t been, so he can suck it. I pushed him on a cactus once as children and I’m not afraid to do it again bwa haha). As I get more comfortable, I might open up more on a personal level.

Which brings me to the fascinating world of Facebook. Feel free to unfriend me if my unending lobbying about TSC annoys you. Of course, it’s not like those people would be reading this. I have been blown away by the thoughtful, kind words from people that I haven’t seen in years, didn’t know well even then, and sometimes never even met. Especially when some of the people I spent significant amounts of time with at some point in my life have never cared to say a word to me about Connor.

2. The TSC community needs to go balls to the wall.

I’m not in the greatest mood because the last couple of days I’ve been lobbying like crazy to get votes on behalf of the Australian Tuberous Sclerosis Society. They started out well in the lead. Earlier today another group had a 30 vote lead. Now it’s over 100. I’m about sick of the lack of awareness and touting of various opportunities to get funding for TSC. Once again we are faced with a vote where we aren’t even at 2,000 flipping votes. More like 1,600. Just like the Chase Bank competition a few months ago. Yet I’m part of two online communities, one with over 2,000 TSC people and another with over 5,000. Something isn’t clicking here. I’m angry.

3. Life isn’t fair.

Yesterday, one of the children I know with TSC was rushed to the hospital in the midst of a status seizure. If you don’t know, that is a seizure that won’t stop without medical intervention. From what I hear, it can involve being pumped with so much medication to stop it that they have to be in a hospital because they would otherwise die from an overdose. Connor has never had one, but once again, on the list of increased possibilities with TSC, that is one of them. When I was teaching,I  would, from time to time, have to be trained on a medication that is inserted into the rectum to stop a seizure. I never had a student have a seizure, but I now know that drug is Diastat and that is what it is for. I used to cringe at the idea, never knowing epilepsy would be a factor in my life. Wouldn’t phase me now, though we don’t have any and I’ve never had to use it. Funny thing is that I think that the last 9 months of my life would make me a most fantastic and understanding teacher. Too bad by the time I left, teaching was 10 percent of the job. Garbage paperwork and filibuster meetings were the other 90.

But I feel bitter because this child has been through enough. He’s never been seizure free for a moment. He’s not even four and already lost a kidney. He’s been through enough. Hey, God. Feel free to cut him a break. Feel free to cut a whole lot of babies a break.

Forget TSC. Do you know how many kids out there have a health problem? You don’t. Not unless yours does. Until then, you don’t know. Forget TSC. What about all the other stuff? Once your eyes are open to one, it’s everywhere. Can you believe there is a little girl out there that was not only born with TSC, but is now battling an unrelated childhood cancer? Really? One rare disease wasn’t enough? Did you know cardiac birth defects are as common as 1 in 100? Can you believe that the physical therapist assigned to Connor has a 3-year-old granddaughter battling cancer as we speak?

People are praying everywhere.  But I’ve learned something. Prayer makes the person praying feel better. Don’t get me wrong. I love that people are praying for Connor. He’s had prayers all over the States, Colombia, India and more. Don’t stop. But it gives me this mixed feeling of bitterness and relief. Sure, I want to believe it will make a difference. But I don’t really believe it does. Some prayers get answered. Some don’t. I don’t know that I prefer to believe God is answering some and not others. I’d actually rather believe things are just happening down here. Otherwise, why do some deserve to get answers and others don’t? I’m sick of stupid prayers, too. Do I have the right to call other people’s prayers stupid? Probably not, but if children are sick and/or dying and God is helping you win a stupid ass football game or experience great weather for your fishing trip, I’m gonna be pissed. Is God the reason your wedding went beautifully? No, you got lucky. And if you think God is the reason your centerpieces didn’t wilt and drunk Uncle Jack didn’t embarrass you, you’re a moron. Good luck with the rest of your life thinking God is going to fix all your piddly marriage problems.

I don’t know how people give it all up to God and just believe it is all for a reason. I want there to be something after we die. That’s the only reason I don’t blow it off all together. But while we’re living…what is there? I don’t know.