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It Could Be Something, But It Could Also Be Nothing…

Day 13 of Guest Blogging for TSC Awareness Month

By guest blogger Alison Walsh  (Buckinghamshire, England)

a few hours oldI was about 16 weeks pregnant and had just been to see my cardiologist about my heart murmur, when he mentioned having the baby’s heart scanned just in case he had a valve defect like mine. I replied that it would be really cool to see a baby’s heart scan as I had never seen one before, and I was never offered a scan with any of my other children. As I wanted to see a baby’s echocardiogram, I mentioned the heart scan to my baby consultant and she said that it sounded like a good idea for just in case, so she sent off for an appointment for me.

I received a phone call from Oxford University Hospital a week later to confirm an appointment. I got a bit nervous for a few days because I thought the heart scan would be at my local hospital. My partner gave me a lot of reassurance that my other children were fine so this baby should be too. At 18 weeks pregnant we were driving to Oxford at 7 am. I was nervous but excited all the way there.

The prenatal heart doctor took her time to scan me, being quite quiet throughout the scan. She just explained and showed us the heart chambers on the screen. After the scan she told us that she may have seen something that she wanted to keep an eye on, but for us to try not to worry as it could be something, but it could also be nothing. She asked us to return in four weeks just so she could be sure.

At the next scan in Oxford, the prenatal doctor brought in a colleague to help her have a look. It was then that she told us that our unborn son had rhabdomyomas (heart tumours) Theo's new hatand she was worried about three of the tumours as they were quite large. Also, one of the tumours was positioned next to his heart valve. The doctor also told us that my baby had a very high chance of having TSC, and the worst case scenario was that he would die before being born.

I went home and cried for a few days, when I suddenly thought that my other children could have TS, and if they did, they were all fine. So my baby would be, too. This thought reassured me until we returned back to the hospital two weeks later and the two doctors were waiting in the scan room for us. They scanned the baby’s heart, then told us that one of the tumours they were worried about was moving in and out of the valve with the blood flow. If the tumour got any fatter, it would get stuck in the valve and stop the flow of blood, resulting in the baby’s death. She made us another appointment and said, “Hopefully, if everything is okay with the baby, I will see you in two weeks.” She gave us a sad smile goodbye.

Well, my heart just broke. I started grieving for my baby as I waited for him to die inside me. I couldn’t sleep or eat for a week. All I did was cry, and when I stopped crying, and he stopped kicking, I cried even more thinking that was the last kick that I would feel him give me. It was the worst two weeks of my life.

Baby Theo was oblivious to my suffering, and he was growing well. Two weeks later, we went back to the hospital where the doctor said she was so glad to see us back, and she had been worrying about us. The tumour was growing longer instead of fatter, and they were still worried about it interfering with Theo’s blood flow as the tumour was causing a lot of pressure in his heart.

I was told that Oxford University Hospital head cardiologists and Southampton head cardiologists had been having a meeting about Baby Theo, and if he survived until I was 30 weeks pregnant, they would give me a c-section and operate straight away.

DSC_0042A few hospital appointments later the cardiologists had another meeting. They decided that as the pressure in his heart was high but stable, and as he was really too small to operate on, they would only do it as a last resort for him. We were told that if he survived until I was 34 weeks pregnant they would take him out then. But I had to have fetal echo appointments every week from 30 weeks pregnant. I was also told to prepare and starve myself before each appointment as I might need an emergency c-section if the pressure in his heart got any worse or if the tumour grew fatter.

The pressure in Theo’s heart grew slowly and steadily but didn’t seem to affect his growth in any way. Theo shocked the doctors again by surviving and thriving. We were told his heart would not take the pressure of birth, so he would be delivered by c-section at 37 weeks all being well. He would have to be in a special care baby unit for three weeks at least as his heart wouldn’t work properly after birth due to all the tumours, but they also explained that the tumours would regress after birth.

After Theo’s delivery he only had to stay in SCBU for three days because his heart was working normally and he was feeding well.

Theo was talked about by so many heart specialists that they all came to visit him in SCBU just to see for themselves how well he was doing. They couldn’t believe it, and one of the doctors even wrote a presentation on him, as they said his heart should not have really coped with all the tumours and their postitioning.

Theo was allowed home on the condition that if he looked strange or blue that we would phone an ambulance straight away, and that he was to go back for appointments every week.

Theo continued to thrive at home. We received confirmation that Theo did have TSC2 when he was three weeks old as they had taken blood from his cord at delivery.

I was ecstatic that Theo was still with me. He was a fighter and had survived against all the odds.DSC_0079

Theo did worry us for a while as he didn’t smile until he was ten weeks old and didn’t give a full on belly laugh until he was eight months old. I am very pleased to say that Theo is growing well, and though he gets a bit behind on his development, he then seems to catch up really quickly.

Theo has ash leaf spots on his legs and belly and sometimes stares off into space, which could be absence seizures. I try to catch them on camera to show the doctors, which is just hilarious as they only last 30 seconds, and by the time I get my camera, he has snapped out of it. He has had an MRI and we know he has multiple tumours in his brain and still some in his heart, but he is the happiest baby around. He’s always smiling. He is 10 months old now and he loves to cruise around the furniture, dribbling on everything as he goes. I think he would walk all day if I let him.

He loves his sleep and has slept through the night since he was a month old. He loves Mickey Mouse and he waves his arms and legs every time he sees Mickey on the television.

We live in hope that TS has affected Theo enough now and won’t affect him anymore.

Love you lots my gorgeous little boy! x x

Our Roller Coaster Journey with Tuberous Sclerosis

Day 12 of Guest Blogging for TSC Awareness Month

By guest blogger Pamela Wolthuis  (Portland, Michigan)

NicolasMy husband Chuck and I were married on May 23, 1997.  I brought one beautiful 4-year-old daughter, Melanee, into our marriage. Little did we know on that day almost 16 years ago, that soon we would be on a journey we never expected, and that Melanee would be the only “healthy” child we would have. (Chuck loved her as his own, from the day we met on a blind date that she went on with us. He would eventually adopt her, as soon as he legally could).   Less than one year later, on May 17, 1998, we welcomed our son Nicolas into the world. He was the cutest little boy I’d ever seen, and the joy of all of our lives.  When he was about four months old, he had surgery for a hydrocele repair.  He seemed to be fine, and then all of a sudden he was bringing his legs up to his chest, almost like he was doubling over in pain.  He would cry, do this jerking with his legs, and it would go on for hours.  Several times we took him to the ER, but by the time they got around to seeing him, he would stop, and they would send us home saying he was fine.  We knew something was wrong, but no one seemed to believe us. I called the surgeon, but he was rude and arrogant, telling me, “He is fine.  What do you want me to do, cut him open again?”

We took him to the family doctor, who agreed with me that if we thought something was wrong, there very well was a problem that we needed to get to the bottom of.  His exact words I can remember to this day:  “Pam, you can have a room full of the best doctors in the world, and you as a mom, know more than them about your child.  If you say there is something wrong, I believe you.”  He sent us on for testing at the hospital.  Nicolas was set to have a ph probe, but while there, a resident looked at our baby, said he would like to do an EEG, and would that be ok?  We said yes, but thought it was a waste of time.  That resident was the one who cracked the case.  I can still remember the neurologist coming into the hospital room and telling us our perfect, beautiful baby boy had a terrible disease called tuberous sclerosis.  He told us Nicolas was having seizures.  He had epilepsy. I vividly remember telling him, “Well, if you know what is wrong, fix it.”  He said he couldn’t, that there is no cure for this disease, and that there really isn’t much even known about it.  He left the room, and I remember just crying, telling Chuck to “tell him he’s wrong.  There’s nothing wrong with our baby’s brain.”  Soon another doctor came in, telling us, “All you can do is take him home and just love him for the three to four years you will have him.”  Yes, he told us our baby would die by the time he was four.  I was inconsolable, and Chuck was feeling like it was his entire fault because he was told he passed the TS gene on to Nicolas.  They could tell, just by looking at him and the angios on his face, that he had tuberous sclerosis.  The angios that he never had a name for up until that point, that he had always worried his baby would have, but that doctors had assured him were no big deal.

When the neuro came back, he told us the other doctor was wrong, and that Nicolas wasn’t going to die.  It took many doctors to convince us that he wouldn’t die, but finally we believed them.  The first doctor who had told us didn’t know and had told us the worst case scenario. Nicolas was started on a seizure med that didn’t help.  The neuro put him on ACTH, a steroid injection given for seizures.  It had terrible side effects and didn’t help our baby.  At the next trip to the family doctor, he told us about Dr. Chugani in Detroit, who was a world renowned expert in TS.  We were so lucky to be so close to him and were able to get in fairly quick.  Nicolas was started on vigabatrin, a drug we couldn’t get here in the US, but had to go to Canada for.  Insurance wouldn’t cover it, and it was expensive, so we went into serious credit card debt to obtain it.  (More than a decade later, we were still paying for it, and finally had to settle it with the credit card companies, ruining our credit, so that we could afford to live.  But we do what we have to in order to help save our children!) It helped, but he still had seizures and was beginning to regress.  He was slipping into his own little world where he wasn’t interacting with us anymore. Dr. Chugani recommended brain surgery.

In June 2000, Nicolas had his first brain surgery.  It didn’t help his seizures, so we were angry and regretted doing it.  Then, all of a sudden, he was interacting again, and our happy boy was back!  The surgery was successful, because even though it didn’t stop his seizures, it helped him developmentally.  In 2003, we were advocating along with Dr. Chugani for more surgery.  The surgical board recommended him, and he had his second resection.  This time his seizures decreased.  He still had some seizures and was still on meds, but he was progressing.

Fast forward another year…..We finally decided to have another baby, with the thinking that God wouldn’t give us two disabled children.  On December 26, 2005, our beautiful MalarieMalarie was born six weeks early.  Within an hour of her birth, she had her first seizure and was diagnosed with TS.  Our hearts broke again, grieving for the “perfect” baby we prayed so hard for.  That is what people who have never been on this journey can never fully understand.  Although, yes, our babies are alive, we still have to go through a grieving process after a diagnosis.  No, our child hasn’t died, but our hopes and dreams for what was supposed to be have died.  We are forced into a place we never intended to go.  But just like the beautiful essay “Welcome to Holland” teaches us, we learn that we are not in a terrible place, just a different place.  So we learn to accept it, and see the beauty and good in it.  It’s not a place we willingly chose, but it’s not a horrible place either.

Over the years our kids have seen more medical professionals than most adults ever do.  Our list includes a neurologist, ophthalmologist, nephrologist, cardiologist, geneticist, gastroenterologist, dietician, neurosurgeon, dermatologist, physiacist, psychologist, psychiatrist, countless occupational, physical, speech, and feeding therapists, and pharmacists. We also have the whole special education team at school. The kids have had home based therapies, school based therapies, outpatient therapies, and soon, possibly inpatient therapy for our son.  We have been fortunate to meet some outstanding professionals, and some have even become our friends.

Nic right before brain surgery.
Nic right before brain surgery.

Today our children are 20, 14, and 7.  Melanee is a happy, intelligent college student who has more compassion than most young adults because of the experiences she has had with her “special” siblings.  We know without a doubt that she will become a remarkable adult, wherever her path in life takes her.  We worry, because when we are gone, she will become the guardian of her siblings, and is this really fair to her?  She will be tethered to them, and they will always be a major part of her life.  She has never once complained, and has reassured us that she WANTS to care for them when we are gone.  We thank God every single day for blessing us with such an amazing daughter!  Nicolas is now almost 15, but functions at a 3-4 year level.  He is autistic, has behavior issues that can occur unexpectedly at any time, is not potty trained, and may never be.  He takes eight different meds for seizures (which are still not completely controlled), behavior, and a nerve problem he just started with after his most recent brain surgery one and a half months ago. He is also the funniest, sweetest boy (when not in meltdown mode) we’ve even known.  His laugh is infectious and comes all the way from his toes!  Malarie is seven, but functions like an infant.  She depends on us for everything.  She is on six seizure meds and still has seizures several times per day.  Like her brother, she cannot be weaned off any of them, because then she starts seizing constantly. She cannot walk or talk.  She can, however, scoot on her butt across a room at an incredibly fast speed, and communicate with smiles and cries.  Her smile can light up a room in no time at all.

This is our crazy, roller coaster journey of tuberous sclerosis.  We go day to day, sometimes minute to minute.  It isn’t always easy, but it isn’t always bad.  Our days are filled with laughter, and sometimes tears.    We have lost friends, and even family, along the way, who can’t understand or cope with the way we live.  Our children will always come first, with no exceptions. We have learned the hard way who we can count on, and who our true friends are.  For that, we are grateful.  We know the miracle of something as small as a smile, or the quiet babbling of a child.  It isn’t a life we anticipated, but it is a life we enjoy, filled with love and acceptance.  In the end, isn’t that what everyone is searching for?

The family at a school Christmas party.
The family at a school Christmas party.

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.

??????????????

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

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~

Finding Family Through TSC

Day 8 of Guest Blogging for TSC Awareness Month

By guest blogger Karren Nelson  (Brunswick, Ohio)

feb3_2011My son Joel was born on February 3, 2011. After struggling for a couple years with infertility, my husband and I felt extremely blessed when we were finally able to hold our precious miracle in our arms! Doctors did routine exams on Joel after he was born. They told us he was healthy, but they did notice a long white patch (almost looked like a blister) on his right arm. They had no idea what it was or what caused it, so we were sent to a dermatologist when he was around three months old. By the time we saw the dermatologist, the white patch on his arm had changed in appearance and texture. The dermatologist told us it was linear epidermal nevus–just a cosmetic thing and we had nothing to worry about. We went home that night feeling relieved.

Months later, when Joel was seven months old, he began doing a strange head nodding thing. He would slowly drop his head and then quickly jerk it back up. The first time he did it we weren’t sure what to think; we had never seen anything like it before. When it continued the following day we knew we needed to see a doctor. We quickly scheduled an appointment with his pediatrician, and we tried our best to video record the heading nodding episodes to show the doctor. The pediatrician watched the video but almost sent us home, telling us he didn’t think we had anything to worry about. I knew in my heart there was something wrong, so I spoke up and questioned whether it could be somehow related to the white patch on Joel’s right arm. He was honest and said he had no idea, but he would call the dermatologist to discuss it. The next april2013eegmorning the pediatrician called me and said we needed to see a neurologist because Joel needed to have an EEG as soon as possible.

An hour after Joel’s EEG we were able to see the neurologist to discuss the results. The neurologist walked in the room, sat down and said, “The EEG showed abnormal activity which we believe is seizures, mostly on the left side of his brain, so we would like to do further testing to rule out a condition known as tuberous sclerosis complex, which can cause tumors to grow on the brain.” We had no idea what she was talking about. We had never heard of TSC before that day. I honestly can’t even remember anything else that was discussed during that appointment… All I could hear was my baby might have tumors on his brain!

The next step was for Joel to have a sedated MRI. We were terrified. I couldn’t handle being in the room and seeing Joel be sedated so Jeremy stayed by his side. When he walked out with tears in his eyes, I lost it. He told me he never wanted me to see that. It was the hardest thing he ever had to do. The nurses told us to go have lunch while we waited. We walked to the cafeteria but we could barely eat anything. We kept looking at the clock, wishing time would speed up so we could see our baby again.

When we finally received the MRI results we were devastated. The MRI showed Joel has tubers on his brain. Further testing also revealed he has rhabdomyomas on his heart. The good news is we were able to control his seizures very quickly after trying only one medication.

teamjoel_seattlewalk2012The hardest part of this whole thing was that we were miles away from any sort of family support system. We were living in Washington state for my husband’s career with the Navy. Jeremy’s unit was supportive, but we still felt so alone. During our first Step Forward To Cure TSC walk we realized we were wrong–we did have a support system there. A group of military friends came out to walk with us so we wouldn’t have to walk alone. That meant more to us than any dollar we were able to raise! I still get emotional talking about it!!

These days Joel is doing well. We have to monitor his weight very closely though, because if he gains too much weight, he starts having staring spells and we have to increase his dosage of medication. We are also watching his developmental growth very closely because TS can cause delays. He is in a grey area, right on the border of having delays in certain areas, so I’m constantly fighting with early intervention services to get Joel the help he needs. It’s frustrates me that we have to wait until he is extremely delayed to get help. You would think it would make more sense to be proactive with speech and occupational therapies BEFORE he is too far behind!

We recently moved to Ohio to be near my husband’s family. Moving here has been great because we are able to see a TS specialist. It’s amazing to be able to talk to a doctor that actually understands the condition and everything that comes along with it!

In February I had the amazing opportunity to join the TS Alliance for March the Hill. A very special lady named Dee told me that every time the Alliance gets together it’s like a big family reunion… She couldn’t have been more right! Everyone was so welcoming and instantly supportive. I don’t know how to explain in words how it felt to be surrounded by people that understand what we’re dealing with. I’m counting the days until we can all get together again though–I can’t wait to see everyone at the next “family reunion!” 🙂

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Please check out Karren’s blog at http://www.nelsonfamily2008.blogspot.com

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.