Tag Archives: Dermatology

A Few White Spots

Day 10 of Guest Blogging for TSC Awareness Month

By guest blogger Annaka Vimahi  (Utah)

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

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

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

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

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

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

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

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

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

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

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

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

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

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.

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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!

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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~