Focusing on Today

Day 22 of Guest Blogging for TSC Awareness Month

By guest blogger Cassie McClung  (Houston, Texas)

Avery1My husband and I learned that we were pregnant in the late spring of 2007. Married just two years, we were a bit surprised, but honestly thrilled beyond words. We had a ton of fun preparing for our new addition, even despite the fact that I was so horribly nauseated for the first five months that I lost 12 pounds. Her development, however, was always right on track, and every test and check-up went well. Just a month before her due date, we decided it would be fun to get the new 3-D ultrasound photos that we kept seeing at the doctor’s office. We ended up trying three different times. Every time we went, the baby had her arms up around her face, completely covering every feature. The first time was kind of cute. The second time was a little frustrating. The third time I asked the technician, “Isn’t it a little unusual to have her arms up every time?”

“Yes,” she said, flat out, “I’ve never experienced this before.” I remember my heart went into my throat. Could something be wrong? The doctor dismissed my concern later, telling me not to worry. I tried not to.

The next thing I knew my delivery date was around the corner but the baby was in breach position, so a C-section was scheduled. In late January of 2008, we were blessed with our beautiful daughter Avery. The surgical delivery went well, but within an hour of her birth, I was surrounded by a number of doctors with very serious faces.

They were concerned because it appeared that our precious newborn was having small but frequent seizures while under observation in the nursery. They bombarded me with a million questions at once. “Was she seizing in utero?” is the one that still stands out. WHAT?? What does that feel like? This was my first pregnancy. She kicked a lot, does that count? Were there other signs I should have noticed? I was stunned. Immediately, the doctors sent her away to a bigger hospital with a higher level N.I.C.U. I remember my Avery2delivery doctor turned to me and said, “I’m sorry,” before walking out the door, not to be seen again.

My husband and I were absolutely shocked and terrified.There was no holding, cuddling or bonding.  I tried to recover quickly from surgery, all the while imagining my baby girl across town under the care of who knows who, doing who knows what. Complete and utter torture. This was when I started thinking about the genetic condition that runs in my husband’s family. We were told previously by family members that we should not worry about it…that it was basically no big deal. Then I heard someone at the hospital say it for the first time. TS. Tuberous sclerosis. We hadn’t a clue.

I broke out of the hospital early and rushed to the N.I.C.U. I couldn’t believe how tiny she was, hooked up to so many tubes…all of the nurses knew her name. My Avery. They already knew so much about her. They’d spent so much more time with her than I had. It felt so strange. At first glance, she looked pretty and pink, sleeping peacefully like a typical newborn. And then I saw it. All of a sudden, she puckered her little lips, turned bright red, and her right arm extended straight out. It faded quickly, but there was no mistaking that she was seizing. Nothing could ever have prepared us for what happened next.

We were shown into a large meeting room across the hall. A doctor sat across from me and five or six med students and residents sat next to her. I’ll never understand why they were invited…why they needed to sit and watch this intrinsically personal experience unfold. They never spoke, just watched. The doctor slowly explained to us that Avery had been born with a rare genetic condition called tuberous sclerosis. Benign tumors grew willy nilly in her brain and heart. She had many of these growths in the left side of her brain, which were causing massive abnormalities and resulting in seizures. She also had a few in her heart, but they were not affecting her breathing, and we were told they would eventually disappear. Small victory. The ones in her brain, unfortunately, would not just go away.

Avery3So that’s when Avery’s brain surgeon appeared. Yep, my daughter has a brain surgeon. Surreal. And that’s when we found out that our newborn needed a radical brain surgery that was meant to end her seizures, or she would not survive: a hemispherectomy. The two sides of the brain would be disconnected from each other, and large portions of “bad brain” would be removed from the left side. Before we could even begin to digest this information, the surgeon went on to explain that he had never performed this surgery on a baby less than nine months old, and most of his colleagues had told him he was crazy. But that it was her only chance.

This is the part where I have to pause and breathe. Because more than two years after the fact, I can still feel the residual effects of this man’s words pulsating through my mind and body. I can still close my eyes and remember the breath-stealing sobs I cried as I said goodbye to my week-old daughter and heartbrokenly handed her to the nurse that would take her to the operating room. We waited hours and hours, hardly breathing, wondering if we made the right decision. It was, and Avery did beautifully. Her strength amazed us. It still does! She was in and out of brain surgery three times in her first month of life. She came home after one month and five days in the hospital, eating on her own, cooing and wiggling. The seizures had completely stopped. We had renewed hope, renewed faith. Her future appeared so much brighter.

We were told by the doctors that there was really no way to predict her future as far as cognitive and physical ability; but the upside was that the earlier the surgery, the better– i.e. giving the “normal” side of her brain time to take over tasks that the opposite side can’t handle anymore…and we couldn’t have done it any earlier!

Avery actually needed two more brain surgeries, at three months of age and at five months, before the seizures stopped returning. She continued taking Vigabatrin (Sabril) for the next four years as a back-up, in case they did try to come back. It was the only drug that had ever slowed down her seizures before.

For four years, Avery thoroughly enjoyed a total break from seizures, as did her parents. We were busy attending to her other many needs, like the fact that the surgery had resulted in the left side of her body being extremely weakened (hemiparesis). No one ever mentioned this side effect before surgery. It was then, and is now, our biggest challenge among many. When she was still not sitting up by herself at 18 months and after lots of therapy, we knew we needed a lot more help. We were lucky enough to find an amazing, private special needs preschool that had experience with children just like Avery. They taught her to sit and scoot. They taught her sign language, how to drink with a straw, and how to use a fork and spoon. And they continue to teach her now. I don’t know what we’d do without these amazing teachers that love my daughter for exactly who she is, and not what she lacks.

Sadly, this past year the seizures returned. We were devastated of course, but not surprised. We knew it was a miracle that they stopped for as long as they did. They are under Avery4control again now with new meds: Onfi and Vimpat. She seems a little more tired now, but overall a happier disposition.

Walking is still our biggest goal. The left side of her body just doesn’t want to cooperate! Although still extremely developmentally delayed, her cognitive skills continue improving. No words yet, but lots of sounds. We have three PT’s, two OT’s and two SP sessions every single week, on top of her school “work.” Avery works harder than any kid I know, and she does it with a smile. She has taught us endless lessons about love, grace, and the simple joys in life. Almost two years ago, we were blessed with another sweet girl! A healthy, TS free little sister, who dotes on her older sister.

As many special needs moms have said before me, it’s impossible to focus on the future right now. In order to get there, we have to focus on today. Today she is healthy, happy and working as hard as she possibly can to reach her potential. What that is, no one knows, but we will move heaven and earth to get her there.

Please check out Cassie’s blog at www.abubslifeblog.blogspot.com

Review of the Dermagist Clarifying System and GIVEAWAY!!!

Woo hoo! I get to to do a giveaway today. I feel like a real blogger now! Of course, the price is that I must reveal the shocking secret that my skin is not…gasp…perfect. The Dermagist Clarifying System is geared for acne prone skin. Now, I don’t have acne, but I certainly do have my problem areas and breakouts.

In the interest of full disclosure, I received these products at no cost in exchange for writing a review. I was a little nervous. What if I hated it? Awwwwkward! I’m glad to say, I’m pretty happy with the results.

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I started using the product on May 4.  Right away I felt like we were going to have a positive relationship because of the word resveratrol stamped on the containers. Hey now! Isn’t that the magical anti-aging anti-oxidant found in red wine? The one all the magazines have been touting? Research is still in progress, but it’s believed to have many health benefits, although the degree of effectiveness and best method of consumption is still being studied. But anything that can be found in wine is alright by me.

A glass of red wine. Photo taken in Montreal C...

The instructions tell you to use it twice a day. I’ll be honest. I’m a once a day kind of girl, unless there are extenuating circumstances, like exercise…so in other words, once a day. My results are from using half the amount directed.  First you wash your face  with the detoxifying cleanser, which I do in the shower. I HATE washing my face at the sink. I don’t know why, but I’d rather take a full unnecessary shower to get my face washed, rather than stand at a sink trying to keep water from dripping all down my front. I like it; it has a nice citrusy smell. My face felt fresh afterward.

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But for me, the clarifying cream was where the magic happened. I can’t say no pimples tried to break through in the past month, but I can say that the cream stopped them in their tracks. The most recent product I had tried for getting rid of blemishes quickly was the Target version of those benozoyl peroxide creams that you’re supposed to dab sparingly as needed on pimples. I’ve also tried name brands like Clearasil. The problem is that while those do dry out and shorten the life cycle of the pimple, within a couple uses, my skin is is flaking and begging for moisturizer every five minutes. The Dermagist Clarifying Cream does the job of shortening their life WITHOUT making my skin look like I just crawled out of the Mojave Desert. This is especially good for me because I’m a compulsive picker. I can’t leave anything alone. My husband is constantly slapping my hands away as I absently pick at my face. I’m not gonna say I went cold turkey, but by preventing these blemishes from turning into Godzilla, my fingers definitely had less to work with. And my concealer spent a lot more time in my bag.

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Want to try it for yourself?

To enter the Dermagist Clarifying System giveaway:

1. Please “like” my Facebook page Mixed Up Mommy if you haven’t already. Look to the right column of my blog and you will see the link.

2. Leave a comment on this post saying you’d like to win the Dermagist Clarifying System. Comments will be numbered according to order left. I will pull a number out of hat, jar, bucket, something lying around the house…look, I said I got my face together, not my life.

Dermagist Rules:

1. That the winner “like” their Facebook page and comment why you like their products or are excited to try them.

2. You cannot have won a Dermagist giveaway before.

Winner selected June 12.

 

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Alee’s Advocate

Day 21 of Guest Blogging for TSC Awareness

By guest blogger Mindee Mata  (Kilgore, Texas)

photoWhen I was first asked to write about Alee I thought..sure ..no problem..I have been Alee’s advocate, her voice for 4 years. I can talk about her forever. As I prepared, I realized that on a daily basis I intentionally put all the horrible parts of her disease in the back of my mind. Her past…her future… I can not think about those things. I have to think about today and today is good! But in order for you to understand Alee I needed to revisit those things.

When Alee was born she was perfect…just like every baby should be but I was still scared to death. I had a 17-month-old and a 4-year-old. I wish I could say I enjoyed every minute of her infant stage but in reality I was on auto pilot until the day after her 6 month check up. She was falling asleep, but every time she started to doze off she would almost jump. It reminded me of the infant startle reflex. At first it just happened every now and then, but it gradually became so frequent that it happened every time she would try to sleep. It would happen all night long off and on with crying in between the clusters. I met with her pediatrician at the time but he had no answers. I called an old pediatrician I had used when we lived in Houston and even went to see her. She set us up with a neurologist but still nothing. Four months went by and she eventually stopped. I was relieved but deep in my heart I knew something was still wrong. My whole life changed one night when she was 11 months old. We were getting ready for bed and she seemed hot, so I gave her some Tylenol and thought she must be getting sick. We went to bed. A little while later I heard the awful noise…the noise I would start hearing so frequently I could hear it in a stadium of 100,000 people. Alee gasping for  breath. I looked at her and she looked like she was in a daze. She could not make eye contact and was completely limp. The only noise was her trying hard to breath. I had no clue what was going on. I had never seen a seizure before, especially one that started like this. My husband called 911. After 20 minutes of the blank stare, the all out seizing started and she stopped breathing all together. I had to do CPR on my baby girl…me…I just did it because I had no other choice. There was no time for an emotional breakdown. The EMT’s arrived, gave her an IV, and headed for the hospital. She was still seizing. At the ER we were able to stop the seizing but her breathing would not return to normal. They were forced to intubate and call for life flight to take her to the nearest pediatric ICU. My husband and I watched all of this basically in shock. I held her, sang to her, kissed her, but I held it together…until she was being loaded on the helicopter and we could not go with her. I looked at her little body all attached to wires and tubes with tears running down her face but no sound. I felt so helpless. The next 30 minutes felt like a lifetime as we drove entirely too fast to the hospital. In my mind the next part is just a haze of doctors, tests, sedation, and questions, but still no answers. We were in the hospital for five days until finally we had a diagnosis. There were eight doctors in the room when they came with her test results. I can remember watching the second hand tick by behind the doctors head because if I did not make eye contact it would not be real. She had tuberous sclerosis. WHAT!! What was that?  And there is no cure? What do we do? Do our other kids have it? We had so many questions, but we finally had a reason for why Alee was sick.

The next year was the hardest thing I have ever had to go through in my life. Alee was in the hospital 1 to 2 days every week. We could not get her seizures under control.  We were photo-18trying every medication available and we just had to wait and see if any would work. She literally ate, slept and seized. My whole life revolved around the seizures and the hardest part was it was affecting my other kids. My son was looking forward to kindergarten, so his first day of school we all got ready and headed out to walk him in and get some pictures. Our house was only three minutes from school, but it was just long enough for Alee to try to fall asleep and the seizures began. As we were walking in Alee started having a long seizure so I had to lay her on the grass in front of the school on her left side and start getting my emergency meds ready. My son was so nervous he was going to be late on the first day, so I gave him a hug and said, “I know you can remember how to get to your class so go ahead and go and I will be there in a few minutes to check on you.” He is so brave. He went and  I watched my 5-year-old have to grow up too fast because of this terrible disease. Alee’s sister went with me everywhere. I was forced to stop working because Alee need 24-hour care and I did not have any family in Waco. Alee was having to get blood work all the time because we were changing meds so frequently and we needed to know how much was in her blood. She had so many IV’s and blood draws that her little veins just collapsed. At one visit they strapped Alee to the board and started trying to get blood. No luck. By stick nine she was screaming and in and out of seizures. The tech was crying and I looked over at Isabella who was sitting like a big kid in a chair and tears were just running down her little face.  All she said was, “Mommy, please make them stop.” Well, I basically lost it then. After stick 14 there was still not blood so we called it a day and would try again tomorrow. I realized that we were all suffering. My husband and I decided to move closer to family so we could have some help with the older kids. And..well..that was God’s plan all along. We had not even started looking for a job yet when my husband received a call that there was a job opening in his home town.  So, within a few months, we moved to Kilgore.

Alee’s social worker at the time told me about a clinic for TSC kids in Houston so I got on the waiting list. After a long 4 month wait we were finally able to see the docs there. Her new neurologist wanted us to try an experimental drug, Sabril, and at this point I would have done anything. I gave it to her for the first time on a Monday and by Thursday she was down to three seizures a day. My prayers had been answered. But the downfall of this drug is it can cause permanent vision loss. Today Alee has lost a little of her peripheral  vision and once that is gone it will take it all. So, we were forced to make a decision. How much vision loss is too much? So when all of her peripheral vision is gone we will take her off the one and only drug that is keeping her from seizing out of control.  We will start the cycle all over again…this may be in six years or six months. We just have to wait and see. On top of the seizures she has tumors in her brain, heart, eyes, skin, face and kidneys. We will more than likely have brain surgery at some point. She will develop polycystic kidney disease, go into kidney failure, and be placed on a transplant list. I know the reason God made her so strong willed…it is because she is going to have to fight for the rest of her life! Her struggles are not going to get any easier, just harder as time goes on. When you think about your children in the future you picture them playing with their friends at recess at school, falling in love, going to college, getting married, having children, but that is not the life that was given to Alee. She has a different path. She is going to be an advocate for TSC. She will help find a cure for this horrible disease.

I wish I could say I was always this positive, but in reality, some days you just want to give up. The loneliest place in our house is the laundry room. That is where I go when TSC gets too big for me to handle. Many, many breakdowns have happened in there, but it is also where I pull it all back together. The emotional side of any disease is too much for most people, but that is not all that is involved when you have a sick child. We are struggling now with so many decisions because she is about to turn 5. Public or private school? What things do we fight for on her IEP? How do we handle that she does not sweat due to long-term use of topamax or her sleepiness from all her meds at school? How do you send your baby to school knowing that she cannot communicate well enough to tell you what is happening there?  I really do believe that God carefully chooses special needs parents and children. You have to be strong, patient, and sensitive at the same time. You have to be able to comfort your seizing child while fighting the ER doctors for her life. You have to be able to hold it all together when the specialty pharmacy forgets to send her meds and you know the outcome will be a life-threatening hospital stay.  Our entire family fights the TSC battle every day and we will not stop. We will give everything but up!!!

And now a word from another mother…..

I’m a guest blogger over at Captain Jacktastic today!

you don't know Jack

We are still in May
And that means

We are still in TUBEROUS SCLEROSIS AWARENESS MONTH!!

I asked my internet friend and mother of Connor– an adorable, sweet boy who also has TSC – to tell HER story.
Here she tells us about the diagnosis, and her journey…..

Please be sure to check out her son’s Facebook page here, and her blog here.

 

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I worried about so many things when I was pregnant. I researched the best prenatal vitamins (didn’t find much conclusive). I decided I would not have the occasional glass of wine until I was out of the first trimester, which turned into the second trimester, which turned into after birth. At most I had a sip or two at a wedding and indulged in an O’Douls. My doctor talked me into a flu shot, and then I spent the next two nights…

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Love For Lani

Day 20 of Guest Blogging for TSC Awareness

By guest blogger Kimberly Clisbee  (Los Angeles, California)


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When you are expecting a child everyone has advice to give. What diapers are the best, what to do for a fever, rash, or tummy aches. But no one prepares you to hear the words “your baby has brain cancer.”  I would like to bring you on Lani’s journey and share with you her struggle and successes with this dreaded disease that we now know to be tuberous sclerosis.

I moved to California from NH in hopes for a better life. It was 2009 and we were in a deep recession. I was unemployed and could not find work to save my life, so I enrolled in college in the pursuit of a bachelor’s degree in criminal justice. I attended school for a year, but as my unemployment was coming to an end, I needed to find employment to pay the bills.

At the time I was teaching martial arts and had a great opportunity to open a school with a martial arts colleague of mine in LA. During a business meeting in September of 2009, I met Chris,  and we fell for each other almost immediately. For the next three months he would fly out to visit me while I was closing out my affairs in NH. We would drive out to California on December 27, 2009. In February of 2010 I discovered I was three months pregnant. The plan was that I would give birth, then go back to school to finish my degree and get a job to support my family. When I arrived in California, Chris revealed that he was disabled and could not work due to seizures. He was scared to tell me because he thought I would leave him. But I am not that way. If you love someone, you love them no matter what.

When Leilani was in my tummy everything was fine. I had placenta previa when I was pregnant, so I had monthly ultrasounds which never displayed any developmental childrens hospital 042problems. I was always told everything looked great. I also had an amniocentesis which came out fine. So when I had Leilani on August 26 I was expecting to have a perfectly healthy baby girl. From the first moment I held her in my arms I knew something was not right. She seemed to jump and twitch every couple of minutes. I kept asking the doctors if there was a chance these were seizures since her dad had a history of seizures, but I was told they were infant twitches, common to newborns.

Well I have been around a lot of newborns in my life and I knew it had to be more than that. Trying to breast feed was also a big challenge for Lani. She would start off fine but then start jumping and end up stopping a couple of minutes in. The doctors again said everything was normal. Finally two days before we were to go home I called the nurse in my room because Lani’s breathing seemed labored. They brought in a respiratory specialist that said that Lani did not get all the fluid out of her lungs when she was born and needed to go to NICU until they were clear. I was relieved.

I thought that was it; she was just having problems breathing and the everything was going to be fine. That was on Saturday the 28th. The next morning at 6:00am I was woken up by the NICU doctor in charge. She had informed me that Leilani had a seizure at 3:00 am and was down having an MRI. Since Lani was delivered by caesarian they told me they were just waiting for a wheelchair and then they would bring me to her. I never hopped out of bed so fast in my life and started down the hall towards the elevators. Radiology was all the way on the other side of the building three floors down, and I think I made it there in light speed.

I don’t even remember being in pain, it just went away right at that moment. All I felt was fear. They were only a level 3 hospital, so they did not have the ability to perform contrast MRIs. All you could see was a 7 centimeter shadow taking up ¾ of Lani’s right hemisphere. She was immediately sent to CHLA. She would get the care she needed there. Unfortunately I was stuck in the hospital until the next day, so I sent Chris and my mother with Lani. That was the longest night of my life! I was alone, I was scared and I was asking every five minutes if I could leave. Finally, the next day around 2 pm, I was released.

surgery 2011 022We went straight to the NICU. She was hooked up to so many machines and had so many people around her. I literally felt drunk. So many people were coming in and out, introducing themselves, telling me not to worry, as if that were possible. Finally one of the doctors came in and told me they were able to perform a contrast MRI on Lani and what they were seeing was a solid mass. They needed to do a biopsy ASAP to determined what it was. So on September 9th at 7:00 am Leilani went in for her very first brain surgery. She was only 13 days old.

Knowing that your child is going to be in the hospital long term not only holds an emotional strain but a financial one as well. We live 60 miles from the hospital, and in LA traffic that could take up to 2 hours both ways depending what time you left. For the first week we had to commute back and forth and since I couldn’t drive. My poor mother who came out for two weeks had to cart me around. This was very hard for her. Not driving me around but the whole thing. She came out to see her granddaughter come into this world and to help me and instead she got to take part in this nightmare.

She was only able to stay for a couple of weeks and in that time she had to rotate seeing the baby with Chris, hold her granddaughter in a hospital room full of sick babies, and leave without knowing what Lani’s fate would be. Thank you Ma, and I am sorry you had to go through that! We met with a counselor, Glenda. She helped us arrange everything we needed for Lani- business, personal and otherwise. She organized Lani’s baptism which was held in the hospital before my mother left, and she hooked us up with one of the greatest organizations ever! The Ronald MacDonald House.

They made things so much easier for us!!! They are right across the street from the hospital. They have a fully stocked kitchen at your disposal, your own fridge space and cabinet space so you don’t have to eat out. They have a laundry room, gym, counselors, and most nights, volunteers come in and make dinner for you. The charge $25 a night but it is based on your income, so if you can’t afford to pay they waive the fees.

We met a lot of other wonderful people there that were going through their own struggles with their children. We bonded with a few of the families, but sadly, over our 43 day stay we witnessed half of them lose their battle. That was one of the hardest parts. These people were people we had coffee with in the morning and exchanged stories with, we would take the shuttle back and forth with them, our children were in the same rooms. Until one day they weren‘t. And you see the other parents in the hall crying, and they don’t really want to talk to you because your child is still fighting and theirs lost their fight. I pray for those families every day, and I thank GOD it was not us. People don’t realize the ¼ of the children in a NICU never make it out. We were one of the lucky ones.

I decided early on that I was going to act as if this was a normal for Lani’s sake, so I was there 12 hours a day. I brought clothes, toys and bedding from home. No hospital stuff was to be used. I would be there at every feeding, bath time and doctors rounds. If I was going to do this I had to stay strong, so there was no crying allowed around Lani.

One of the first thing a child learns is emotion and they feel that through their parents emotions so I tried very hard to keep it as normal as I could. Don’t get me wrong, I lost it plenty of times!! But I would leave so she wouldn’t feel it. She was not able to feed from me so I pumped every three hours. I read her bed time stories every night and held her all the time. Singing to her and telling her all about her room, her family who loved her, and what we were going to do when she got home.

I really think that mental mindset made a big difference for everyone. It helped me cope with what was going on and gain control over my situation, as well as seal the bond between Lani and I. Mom had to leave and it was time for Lani’s biopsy. I was never so scared in my life. The surgery took three hours which felt like an eternity. We had to wait a week for the results so in that time we just tried to stay positive. Leilani was having a seizure about every 10-45 min. Her oxygen levels were always good which is what you want; no oxygen is what causes brain damage. But she was having infantile spasms which are very dangerous and usually don’t show up until 6 months of age.

I had to convince them that was what was going on. The nurses kept telling me no, she could not be having infant spasms as a newborn and moved Lani to the back of the room. They took her from having two nurses to having one nurse who was not even paying attention to her. Well that was my first run-in with the nurses, and not the last I assure you! I called the head of the department of neurology. Lani being such a rare case it was easy for me to access anyone and everyone. Everyone wanted to be part of her story.

I told him what was going on and insisted they look into her seizures so there was no more doubt or guessing. So he did. He called down to her room, reprimanded the nurses, and had them move her to the front and reassign the other nurse. They were not happy with me but I didn’t care. I was not there to make friends, I was there to save my daughters life. Most of the nurses were great I must say, but there were a few that just didn’t work for me and I let them know it. You have to. If you see something that seems wrong it probably is, and if you do not open your mouth and address it you have no one to blame for the outcome.

They performed an EEG and it confirmed they were infantile spasms, which in itself was extremely rare. The hardest part for the staff, as well as us, was that they have never seen a case like Lani’s before and they had no idea what to do for her. Finally the pathology came back and we were called into the conference room. When we got there we saw ten people sitting around the table, some we knew and some we never seen before. We were told that Leilani had a rare form of brain cancer called “Congenital Gemistocytic Astrocytoma” and that there were only three other known cases in medical history. The other cases were successful but Lani’s case was a little more complicated. She had one big tumor and two small tumors on the right. But she also had one small tumor on the left.

They could only operate on one side and it had to be the right, so they told us it didn’t look good. They said if I never had the respiratory nurse check Lani’s breathing and she went home she would have died in a few weeks. Then they went on to say that her chances of surviving such a big surgery for such a small baby were slim, and if she did make it, the left side would eventually grow, and if that happened than there would be nothing they could do. They suggested the unthinkable. Just take her home and let whatever happens happen. I told them that was not an option! If she dies in surgery then that is what happens, but I was not going to sit by and do nothing! I don’t care if you have never done this surgery on a 3-week-old! But either you take her to UCLA or I will, but she is going to have this surgery! At first they told us they were going to take the whole right side, but they only took the frontal lobe and part of the center portion.

The surgery was a success! Her seizures were gone. Her pituitary gland went into shock as a result of the surgery, so she developed diabetes incipitus (water diabetes) and renal disorder. She had to go home having two shots a day of DDAVP (a really dangerous drug that controlled her sodium levels) along with phenobarbital and topamax to control her seizures and hydrocortisone to control her adrenalin. All this adult medication for this 7 pound baby, but if it was going to help, who am I to question. I am not a doctor. Boy has that attitude changed! I was just so happy to take her home! She didn’t sleep the first few days because of the dark and quiet. She was so used to all the lights and noise of the hospital. We were so hopeful that this would be it.

Lani was released from the hospital on October 14. We were so hopeful that this was going to be it. That she would come home and recover and never have to have another surgery again. The first week home was great, she progressed so much! She was smiling and playing, doing all the things a two-month-old baby should do. A week later, mother came to visit. Everything went well, my mother got to see Lani out of the hospital, and Lani got to spend time with her Grandma. It was the night before my mother was to fly back to Boston and I was getting Lani ready for bed. She was lying on my bed while I was puttering getting things ready, when I looked down at her and noticed she was kind of breathing funny and her eyes looked red and a little watery. She almost looked as if she was scared. We didn’t make much of it and went on with our night hoping it was nothing.

Two days later I noticed it happen again. It was really hard to tell because it lasted seconds and she didn’t have any typical seizure signs. But I knew. My heart dropped. We called her doctor the next day and told her what we were seeing. She said it didn’t sound like a seizure but she wanted her to have an EEG anyway. So we went in for an EEG and it was confirmed that she was having seizures again. Her doctor told me that her visual signs and EEG results were so slight, it was hard to tell what was going on. She asked me, “What, do you do stare at her all day?” And I said, “Why yes, I do.” She laughed and called me the “seizure dog mom.” She said that they had to look at the video over and over again to see what I was seeing. I replied, “Well, I am a mom and moms just know.”

The performed an MRI just to be sure that it was a tumor causing the problem and they found one on her temporal lobe. They scheduled to have a temporal lobe resectioning on November 30. In the mean time Lani was still receiving two shots a day for diabetes insipidus, which I insisted she no longer had. But I would fight that battle after Lani’s surgery. This surgery was a bit of a nightmare. Before surgery (as most of you know) you can not eat for 12 hours, so when it is a baby they try to get them in ASAP. Well, the scrubber in the operating room was not working and since Lani’s doctor did not want to use another room, we had to wait three hours. She was seizing every hour, and she was hungry and scared. It took them five times just to get an IV line. Complete nightmare! They finally took her in and then the waiting game began. This time it was nine hours! I was so scared. I kept having them call to make sure everything was ok. Finally the doctor came up and told us he got it all out and she was on her way to the PICU.

The first person we met the PICU was Lani’s nurse whose name I can’t remember. She was a good nurse for the most part- nice enough. But the thing that I remember the most was when I walked in and she was ordering insulin along with Lani’s other meds. When I explained to her that she didn’t have sugar diabetes, that she had diabetes insipidus and needed DDAVP she said to me, “What’s that?” Scary right!? But then that was followed by, “Thank you for telling me! It gets so busy in here that I don’t always get time to read the charts.” Well needless to say, I didn’t leave that night! Thankfully we were only in there for one night. We were transferred to the main floor the next day and released two days later. This was a relatively easy surgery for Lani and she was back to herself in a couple of days. They used the same incisions, so there was no new scaring and most importantly, no seizures for three weeks…

So after three brain surgeries we are right back where we started. But this time she is having infantile spasms again, along with her regular partial onsets. They were not sure if Lani could have more surgery being so young so they wanted to go the medication route. What does this mean for Leilani? More medication. The upside is that her seizures would eventually be under control. The downside is that you are filling your baby with poison that could give her all kinds of other problems.

These medications have serious side effects and as a mother I had to research each and every one so I would know what I was willing to try and what was too risky. I do recommend you for the most part listen to your doctors, they didn’t spend hundreds of thousands of dollars and 8+ years in school to not know what they are doing. But the reality is, hospitals like anything else, are businesses and everyone wants to get paid including the pharmaceutical companies. So don’t be afraid to say no if you are informed about what it is you are protesting.

I was finally able to convince them that Leilani’s pituitary gland was functioning on it’s own so her endocrinologist took her off of the DDAVP and Hydrocortisone J. So now she is only on four types of anticonvulsants at adult doses, and she is still having up to 18-22 seizures a day that last almost 5-10 minutes each. She has been going like this for three months, which is how long I told her doctors I would give all this medication to work. Add some subtract some, it made no difference. So I told them I want to do something else because I was not willing to let these medications ravage her internal organs, they were not helping.

They recommended two alternatives: Sabril, a drug that could damage her peripheral vision, and carried no guarantee to stop the seizures. Or a high powered steroid called Actar. We went with the steroid after doing much research. This medication cost $25,000 for a two week supply! Thank GOD I didn’t have to pay for it. But it had to be administered intramuscularly twice a day which was the hardest thing I ever had to do. My heart broke every time.. She immediately started having side effects. She was inconsolable all the time!!!! And this is a baby who is always happy. She was swollen, hungry all the time, and just flat out miserable.

Her seizures did not stop or slowed down, so after two weeks of this I wanted to stop. We went to her pediatrician for a check-up and her blood pressure was 170 over 95. We immediately took her to CHLA. Her neurologist did not want to admit her. She said the when her blood pressure got under control she could leave, but I knew there was more going wrong. I kept telling them she was having problems peeing and that she had a history of DI. This was not true of course but I knew it would force internal scan, given the fact that ACTAR can shut down your kidneys and liver.

After doing some tests they discovered her liver was ¼ larger than it should be and had a gritty texture on it. She was admitted immediately. Because the medication was not appropriate for her seizures, all the bad side effects took place. This is why it is dangerous to take medication your body does not need. After four days in the hospital I went to see her surgeon to demand he rethink Lani’s surgery. I was not taking anymore chances with medications, nor would I let her keep having seizures that could cause permanent brain damage or, even worse, kill her.

He said that it would be too dangerous and the seizures would not cause as much damage as the surgery could. It is hard to know what to think or what to believe sometimes. He has performed three surgeries on her already. I thought he truly cared; he is an accredited brain surgeon. I said I would try one more thing but on my own conditions. I would try a ketogenic diet. It was medicating, but with food; it was been proven to reduce and stop seizures. I wanted her taken off all but one of her anticonvulsants, and if this did not work I was going to do what I had to do. With much fighting over trying Sabril, which was off the table for me, considering this last fiasco they agreed.

We were getting ready to go to Boston for a visit so I asked Leilani’s doctor for all of her medical records, tests, MRI results etc. The plan was to have a doctor at Children’s in Boston take a look at her case and get a second opinion. She gave me a consolidated report of Leilani’s case. She also gave us a referral for a doctor in Orange County and stated that she has been pushing for the surgery.

We made an appointment in OC before we left for Boston and that is where we met her new doctor. If you have ever had to deal with a surgeon you know that for the most part they are not very warm and fuzzy. Especially brain surgeons! I don’t know if it is the whole GOD complex thing, or they have been numbed from seeing so much. Our new doctor was the exception to this rule. He insisted we call him Devin and hugged and kissed Leilani as if she was his own child. This gave us great comfort. To Dr. Binder Lani is a person not just006 a patient. Every time we go to his office he is introducing us to the staff that does not know us. He even keeps a picture of her in his shirt pocket.

Chris and I did not come to our decision easily, this was a big surgery. For the most part, small children recover from it nicely. But Lani was only one year old and this would be her fourth surgery in a year, something that in itself is unheard of. The other issue is Leilani had a tumor on the edge of the left hemisphere. And there was a dispute on whether it was on the basal ganglia or the third ventricle.

The basal ganglia are associated with a variety of functions, including voluntary motor control, procedural learning, relating to routine behaviors or “habits” such as eye movements, and cognitive, emotional functions. And the other was the third ventricle, which is mainly responsible for storing cerebral fluids, and not as dangerous to operate on. But our doctor was sure it was the third ventricle and that it would be ok. So with that we put our trust in him and consented to operating on both sides. The decision was the toughest decision we have ever had to make. This could have stopped her seizures or left her paralyzed, but we wouldn’t know until it was all done. Sometimes you just have to trust in your gut and in GOD to that everything will be ok. And it was.

Leilani’s surgery took three hours and she was screaming “Mamma” in the recovery room. Music to my ears! She was on her way to a speedy recovery, eating and showing that she recognized us. Her surgery was a success! When they wheeled her to PICU I noticed she did not have a drain. I asked why and the doctor told me that neither he nor the hydrocephalus surgeon who assisted him thought she would have any problem draining the fluid naturally. Wrong! Within a few hours her head swelled up like a balloon. She was throwing up and screaming from the pain. I was so mad because I asked them right out of surgery if she needed it and they said no. This is something that can be done at bedside, so if they did it when I asked then she would not be going through this.

One mistake does not reduce him as a doctor to us. Yes we are still dealing with the effects because she has a little droop to her eye, lots of nerve damage, and is still on a feeding tube. But in the grand scheme of things she is alive and seizure free. So we still stand by our decision to have him as a surgeon and would recommend him to anyone. He has since told me no matter how small the surgery, because of Leilani, he will always drain, so lesson learned I guess.

She would spend the next month in the hospital recovering from this. I slept in the hospital every night. The only time I left was two hours at night to shower and eat, but other than that I was a permanent fixture in the hospital. For the most part the hospital was top notch and the staff was great. There were moments where I was glad I didn’t leave, like the time the nurse forgot to stop the drain and her CSF was all over her bed! Or the time I did leave and came back to find my baby sitting in her own throw up! Of course these instances were few and far between. We were there for a month and it was a very busy PICU. More so than any other I have ever been in. So on a scale from 1-10 I give them an 11. They were truly amazing.

We had a genealogist who was trying to uncover what caused all of this. She took one look at Chris and could see he had TSC. She asked us to talk to his doctor since he has had brain surgery in the past and was under the care of a neurologist, but his doctor said no, he had Sterg Weber disorder, so we all let the idea go. Lani’s heart was fine, and after all, she was born with cancer. As time went on, I did a lot of research online about TSC, and a week before we were to be discharged, I noticed the smallest white spot on the side of her leg.

I called the doctor in and asked if she could do a DNA test on her to rule it out. I need to know how to go forward with Lani’s treatment and what to expect. Her test results came back positive. This weighed heavy on our hearts, but it was better to know than not know. We later had Chris tested and he also tested positive for TS1.

Going forward, Lani sees every week: two physical therapists, one occupational therapist, an early interventions therapist, an eye function therapist, chiropractor, acupuncturist, a feeding therapist and a speech therapist. And this is just to be able to do all the things that all of us take for granted, like walk and talk and feed ourselves. We work with her every day all day! And that is what it will take. But she will be able to function on her own if I can help it! She is the strongest little girl I know and if anyone can do it she can. With all of this we still and always will feel blessed to have Leilani as our daughter. She has given us so much love and hope and we would not change a thing. GOD has a purpose for Leilani. I truly believe that.

Please check out Kimberly’s Facebook page: Love 4 Lani

Walking for a Cure and Trying to Employ My 14-Month-Old

I’m still here, even in the midst of all the awesome guest bloggers I’ve had so far this month for TSC Awareness (still accepting guest posts). You might remember me from such posts as Bite Me, United Healthcare or Bite Me, Medical Billing Department That Won’t Call Me Back.

The last week has been really busy. I’ve been doing some freelance writing, which has been immensely rewarding in all ways but financial. But if I keep it up, I’ll have that Italian villa by the time I’m 127. I write for the parenting and education divisions of an online media company. No seriously, I write about parenting in, not one, but two locations. Makes you rethink your Google searches, huh?

The Georgia Step Forward For a Cure took place on Saturday May 18 at Marietta Square. So far it has raised $70,000 and counting–thank you Dee and Reiko for organizing this year after year. I was also named as the new chair for the Atlanta/North Georgia TS Alliance, which I’m pretty excited about. Sarah, a reader who has been following along with the guest bloggers, asked me if I would be there. I told her to look for the obnoxious yellow shirts. She found me.

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Connor is doing well; he’s still progressing, although it can never be fast enough when your kid is delayed. We just hit 14 months, and we’re hoping he’ll crawl soon. He can hold the position if we put him in it, it’s the moving part that is the problem. He can move backwards when he’s on his stomach. The problem is, he doesn’t ever want to be on his stomach. He will expend more energy trying to flip himself over when I have him wedged in on both sides, than he will to move a couple feet. He can also stand with minor support, but again, we have to put him in the position. He doesn’t pull himself up yet. I’m also desperately hoping to hear some consonants soon. He has mastered uh, and quite frankly, at this point he can add a ffff and a kkk and I’ll be the one parent that’s thrilled.

We recently increased his meds when it seemed some sort of seizure activity was breaking through again. It helped, but I still occasionally see his eyes go up and linger a few seconds, or he’ll stare off to the side with tightly pursed lips. They don’t seem to have a lingering effect like previous seizures though.

His delays do seem to have created the very player of son I swore I wouldn’t ever raise. I’ve never formally announced his health issues in music class, although I also don’t hide it. Some people have become aware as the music teacher is also his music therapist, and they have overheard us talking. I also wear my TSC shirts to class. But some may actually believe that I am such an incredible disciplinarian, that I have actually trained him to never leave my side (easy to believe when you’ve never seen him try to empty his entire bottle into his belly button). So there he sits, very cool, very “you come to me, I don’t come to you.” And the girls, oh yes, they crawl right over. They can’t help themselves. He’s so James Dean, if James Dean traded his cigarettes for music sticks.

I’ve also been looking into just how young kids can start gymnastics because it would be a shame for Connor to ever lose the ability to do this:

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We might be looking at a career gymnast. Of course, he has also shown an interest in dentistry.

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And Salvador Dali impersonation.

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Spilled Milk, the “R” Word, and Trees

Day 19 of Guest Blogging for TSC Awareness

By guest blogger Josh Krischel  (Dwight, Illinois)

Josh and his parents.
Josh and his parents.

Life is full of lessons, as well as people who teach us these lessons, instructors if you will. When reading that first sentence you might have thought of an elder who has given you some words of wisdom, or maybe a code of life your parents always told you to live by. However, when I think of the most important lessons in my life, I don’t think of my grandparents, or my dad teaching me how to mow the lawn. Nor do I think of a single thing I’ve ever learned in school. What I do think of is the much more important things I’ve learned and continue to learn from my two absolutely amazing brothers who have TSC, Adin (13) and Mason (17). Adin and Mason are continuously reminding me to be patient, tolerant, and above all things to just enjoy the many little gifts I receive from God each day. Every morning before school, when I begin freaking out because of my intense issues with being late to events, I just slow down and take a look at one of my brothers and it just calms me down and puts a big smile on my face. Every time a situation such as that arises it always reminds me that I would never, ever, under any circumstances wish for my brothers to be any different from the way they are.

I’ll start off with a quick intro into the life of Josh Krischel. I went to Dwight Grade School for 8 years, and am currently enrolled as a freshman at good old Dwight Township High School(DTHS).  I try to, and am fairly successful at, keeping a 4.0 GPA. I play football and am part of the scholastic bowl and mathletes teams, and I also throw shot and disc for the track team. As well as trying to balance my life between all these activities and school work, just like any other teenager, I also get a bit of chaos thrown into the mix. However a bit hectic at times, I suppose chaos is a bit of a strong word. Considering I don’t know what I would do with my life if it wasn’t how it is today.

Adin and Mason both have very distinct characteristics that make them both a joy to be around. Adin, who is the higher functioning of the two, loves nature, our puppy Keegan, the weather, and always carries around a watch that has little penguins on it that he constantly looks at about every five minutes just to give us the time. Then there’s Mason who is the most joyful person to be around and always seems to have a huge smile on his face.

Now, earlier I threw out a few things I have learned from my brothers and I’d like to talk about those and how they relate to our everyday life, the first of those being patience. I’ve 553615_3801382325047_2054365817_nlearned over these past 14 years that it really isn’t worth it to get mad over all the little aggravating things in life. Just like the old saying, “there’s no use in crying over spilled milk,” which in our house quite honestly happens more than it probably does in the average household. For the simple reason that Mason, who likes to fill his glass of milk to the very brim, doesn’t have the best reflexes, so he spills quite often. So, every time this happens he just goes to the drawer in our kitchen that we keep the rags in, grabs one, and just cleans up his mess without even a single peep. After watching this happen I often sit there and just think, if my autistic brother, who is very easily upset, can be patient like that then why can’t I? The answer to that question is because I can!! Often I mess something up and begin to get frustrated, and then I just think about Mason, and his ability to keep his eyes dry over spilled milk.

Then there is tolerance, which is something I’ve learned from both my brothers. Often when we go out to eat or just have to go to store shopping, my brothers somehow find some way to make me embarrassed or to cause a scene. Well at least that’s how I used to see it. Now, whenever we are out and about and one of the two begins to say some phrase they’ve heard from a movie or something over and over, I just often let them keep on doing it and continue whatever it is I’m doing. However, in the past year or so, I occasionally even find myself chuckling at them, or even joining in quoting Finding Nemo, Cars, or The Wiggles. As far as that topic goes, having the two of them in my life has allowed me to be very tolerant for all sorts of people, whether it is race, religion, or even just personality. I constantly, day after day, am hearing people in the hallways of DTHS, using the “R” word to call someone stupid. I understand when in the moment of using this word these people don’t realize how offensive it is to some people, that or they just don’t care, but regardless, 99% of the time I will stop whatever I’m doing to call the person out on it for the simple reason that it isn’t ok. Just like how it isn’t ok to call someone a “homo” or a “faggot,” it is just as offensive to anyone who cares for someone with special needs to hear the “R” word.

294883_10200707258115803_180476492_nLastly, the most important lesson my brothers have taught me is to enjoy the little things in life. In our dining room we have a big bay window overlooking a section of our backyard, and every morning Adin will just sit there and look out at the trees and the flowers. However, one morning he seemed very spacey looking out the window. At first I thought he might be having a seizure, so I went over and sat down and asked if he was ok. He responded with just a simple yes.  I then asked him what he was looking at and he said, “I’m just looking at that tree that God made.” Then without a single ounce of hesitation I smiled and looked out the window and sat there for a good five minutes just looking at a plain old tree. This, later in the day, made me realize that I take a lot of little things for granted, and that I need to just slow down sometimes and just take a big whiff of some roses.

If I haven’t made it clear enough already, I love both of my wonderful TSC brothers more than words can describe, and I wouldn’t trade them for anything in the whole entire world. However there is one extremely wonderful, amazing, caring, and loving woman I know that has TSC, and that would be my beautiful mother. She has also helped the cause by molding me into the, not to brag, wonderful young man that I am today (never said I was modest). She has taught me how to be a loving and compassionate person. She also easily undergoes more stress than the CEO of a multimillion dollar company, but somehow she manages to keep us boys in line, and babysit her two-year-old nephew. She is probably the strongest woman anyone could ever have the pleasure of meeting and is probably the biggest inspiration in my life.

So, if there is one positive to look for out of all the troubles of TSC, it would be that TSC carriers are by far the best teachers a person could possibly ever have.

See Josh’s mom’s post here.

It Affects Us All

Day 18 of Guest Blogging for TSC Awareness Month

By guest blogger Tina Carver   (Eureka, California)

Please check out Tina’s blog at http://captainjacktastic.wordpress.com

Jackson and Tina.
Jackson and Tina.

Prior to April 2009, all that I knew about Tuberous Sclerosis Complex would fit on the head of an angel dancing on the head of a pin.
In other words:
NOTHING.
Never heard of it. AT ALL.

Once I met Jack, all of that changed.
I became Jack’s stepmom in September of 2010, and shortly thereafter, his birth mother left the area, leaving us with sole custody.

Now, I have to be honest.  The hardest part of Jack’s TSC  had already happened.  The in vitro diagnosis.  The debilitating and never ending febrile seizures.  The rounds and rounds of various seizure meds.  The brain surgery.

That all happened BEFORE.

In the TSC community I feel a bit adrift — I get asked questions about the specifics of his disease — the types of tumors, etc– and I cannot answer them.

My life with TSC is all about moving forward and making Jack’s life the best it can be in the here and now.  It is also about dealing with how the disease affects US: myself, my husband, my daughter.

Our life revolves around “what if’s”.  Every plan that we have has a back up- “just in case”.  We have emergency seizure meds in each of our cars, Jack’s backpack, the home.  We plan and plot ANY trip to make sure we are near hospitals.  My husband and I get THREE WHOLE hours a week to be adults outside the house.  My daughter knows that any school function most likely means only ONE OF US will be there (respite is a harsh mistress). Tuberous Sclerosis may have had its way with Jack, but it also has the rest of us in its grip EVERY. SINGLE. DAY.

Jackson and Dad.
Jackson and Dad.

But there are days……lovely days like last Sunday when all of us were in the backyard.  My daughter running fully clothed through the sprinklers, much to the delight of Jack who had his favorite spot on what he calls the bouncepoline.  The sky was clear and sunny.  There was laughter from all.  And it’s for these moments that we continue on.  THAT is what makes it worth it all.  We forge ahead because these moments make life worthwhile.  These moments balance those tense moments in the ER, the sedation for MRIs, and the uncertainty of the future.

Now, to be honest, how Tuberous Sclerosis has had its way with Jack has NOT been kind-

Febrile seizures have left permanent damage.
There is a thick scar that crosses his scalp from brain surgery.
There are developmental delays.  There are physical issues.
There are over 30 tumors in his brain.

But over the past few years we have seen progress.
We have speech and communication.
We have staid the growth of the tumors.
We have found the right cocktail of meds to keep away the seizures.
And Jackson the boy is blossoming……

SO what else can I say about this disease that I have come to know and loathe?
That it took away one boy and left us another.
One that I love just the same.

Jackson hanging out in Darrah's room.
Jackson hanging out in Darrah’s room.

JACKSON The Poem

In my dreams

I constantly see

You

Your smile so bright

and beautiful

A mischievous grin

to match the

glint in  those

bright blue

Eyes

You run

Untroubled

Carefree

with an easy

and natural

gait.

Laughter unfettered

Musical

And there are

no tumors

no damage

Or delays.

There is only a boy

who is

Not You.

Jack loves the number 9.
Jack loves the number 9.

Why We’re Thankful for TSC

Day 17 of Guest Blogging for TSC Awareness Month

By Guest blogger Catrina Jones  (Monroe, Louisiana)

Note from Mixed Up Mommy: This was originally a Facebook post in the TS Alliance forum. I asked if I could share it here because I think it’s such a great story.

Hannah in August 2012.
Hannah in August 2012.

My daughter Hannah Grace, now 11 years old, started having infantile spasms at 8 months old. After an EEG was performed, it was determined that she had idiopathic benign occipital epilepsy. We were then referred to a local neurologist a month or so later, who ordered MRI/Brain prior to our appointment. I will never forget the day I received the call with the MRI results from the neurologist’s office where the nurse told me over the phone (while I was at work) that it was suspected our daughter had tuberous sclerosis. She said I needed to pick up the film and report to bring with us to Hannah’s appointment, and the doctor would discuss this further. When I asked her what tuberous sclerosis was, she could not tell me and informed me that the doctor would have to give me that information. I was in such shock and dismay that I dropped the phone at work crying, and a co-worker had to finish the call with the nurse. This co-worker immediately went to the internet and pulled up a fact sheet about TS and began reading it to me. After I composed myself, I called my husband and the rest of our family with this news of our daughter having something we had never EVER heard of. I remember having this huge fear of the unknown. When we took Hannah Grace (who was 11 months old at this time) in to the appointment, the neurologist said that he wasn’t sure 100% she had TSC because of lack of other symptoms, but when he started naming off things associated with TSC, the white patches were present on Hannah Grace. He took the woods lamp and inspected Hannah Grace, and to our surprise, she had a LOT of them on her body. He then said he had to concur that she did have tuberous sclerosis. As for her infantile spasms, he ordered her phenobarbital. Later on, her IS started developing into partial seizures so Tegretol & Topamax was added to control those.

So, with the new diagnosis of TSC, began a life of yearly testing and doctors visits. Since Hannah Grace was so young when she was diagnosed, we were unsure of the severity of her TSC. Did she have a mild case or was hers more severe? She was meeting milestones at her regular pediatric checkups, so we were hoping that by controlling the IS, just maybe she would live normal life. She does have some mild developemental/learning/cognitive delays, but at 11 years old, she is pretty much living a normal life that TSC says she should not be living. She has been seizure free for eight years now, and we could not be happier with her progress and accomplishments . She has overcome so much in her life. But our story doesn’t stop there.

Where most of you hate/despise TSC, our family is THANKFUL for it. You see, it was because of Hannah Grace having TSC that we went to her yearly checkup with the neurologist this past July. Actually, it was a six-month checkup, because we had been weaning her off of Topamax, since she has been seizure free for so long. The neurologist always runs labs to check her medicine levels. Those labs that day came back to show Hannah Grace had extremely low white blood counts, and it was thought she was developing a virus. We were told to take her to her pediatrician for a followup to let them check her for mono or other viruses. We went into the office the next day, and they re-ran her labs to find that her counts had dropped even more. They tested for numerous viruses and all came back negative. We were sent home in hopes that she had some type of virus that she would rid itself over the next week, and were told to come back later for repeat labs. The following week, her counts were even lower than the week before. The pediatrician was baffled because Hannah Grace showed no signs of being sick, yet her counts continued to decline. We were sent home under strict isolation and told if she developed a fever to get her to the ER. That night brought the fever and an ER visit. She was admitted to the hospital where our new journey was just beginning.

For two weeks in the hospital, Hannah Grace fought extremely high fevers, developed a rash, and her chemistry levels began to fall. She eventually ended up in PICU, where the

A recent photo of Hannah Grace.
A recent photo of Hannah Grace.

MD told me she was critical and needed to go under a pediatric hematologist because her counts had bottomed out. It was determined that we would be transferred to a Baton Rouge Children’s Hospital under the care of a hematologist. When we got there, they believed she had an infectious disease, so tests were run for every infectious disease/fungus there was, and everything came back negative. After a week of this, a bone marrow aspirate was done August 7, 2012, and we were told on August 8, 2012 that Hannah Grace had acute lymphoblastic leukemia. OMG, for a second time in our lives, we were hit with devastating news. Our little girl has cancer. The last ten months of our lives have been spent at St. Jude Children’s Research Hospital & Affiliate fighting leukemia. I would give anything in the world if I could go back in time to the days of her having to deal with just TSC. TSC we were managing and doing well. Hannah Grace is in remission, but she will have to be in treatment for the next 2 1/2 yrs to make sure she is completely cured of leukemia. This road has had many difficulties, but we are most THANKFUL that St. Jude has decided to help treat her TSC along with the leukemia. This week, we came back St. Jude because they started Hannah Grace on Rapamune (Sirolimus) to try to shrink the SEGA and other tumors she has throughout her body (mostly on her brain & kidneys). We are so THANKFUL to have this opportunity, where we probably wouldn’t have had it back home in our small town. God works in mysterious ways!

We invite you all to checkout our pages at:

https://www.facebook.com/LouisianaTuberousSclerosisPage

and https://www.facebook.com/HannahsHopeForHealing.

Humor Gets Us Through the TSC Battlefield

Day 16 of Guest Blogging for TSC Awareness

By guest blogger Renee Seiling  (Westbury, New York)

tsc walkMy husband and I married in 2007 after dating for over six years. We always planned to try and start a family in September 2008, and we did get pregnant that month. But we never planned for our daughter to be born with an incurable disease.

May 15, 2009 we heard devastating news; they found rhabdomyomas on our unborn daughter when we were 35 weeks pregnant. That is when we first heard the words tuberous sclerosis. I remember crying at home that night and my husband said to me “She can feel everything from you. You are stronger than this and she is going to get her strength from you, so no tears, so she’s as tough as you are.” He was right, so I started doing research, met with genetics doctors, cardiologists and had sonograms every 3 days to check on her. They induced our pregnancy three weeks early and admitted her to the NICU.

It was so hard to not have your baby in the room with you and having to go down to the NICU for feedings and for the doctor’s rounds. But the hardest was watching the days when babies were not well and they would be crashing right before your eyes. I did not know any of the moms there, but we all felt for each other. Seeing babies that have lived there for four months made you realize that you did not have it so bad.

When she was 4 days old a brain MRI confirmed TSC. Zoey was born with countless tubers on her brain and a subependymal giant astrocytoma (SEGA) as well. We were told by her neurosurgeon that it is the second largest SEGA he has ever seen, lucky us.  Fortunately we were also told that if it ever grew it is operable. Zoey had blood work to find the strand of TSC she might have and at 8 weeks old it was confirmed she has TSC-2.

We had Zoey start early intervention when she was 4 months old, one of the greatest decisions we ever made. She was granted physical therapy, and we met Sonny. Sonny was Zoey’s first best friend. He came to our home 3 times a week, and Zoey just loved him. He helped us through all of the hard times. He was there for her no matter what. When we intubatedmoved from Queens, NY to Long Island, he even followed us. He made sure he found a company that also worked with Long Island early intervention so he could stay with her. He was with us for 3 years, and I cried on his last day. He will always be remembered.

Zoey also had speech therapy and occupational therapy at home three times a week. We met Hadiah, a no nonsense OT who always made Zoey work harder and still have fun, and Kelly, her speech therapist ,with whom Zoey fell in love with immediately. Her bubbly personality helped Zoey sit through her 45 minute sessions.

Zoey is developmentally delayed; she has been going to school since she was 2. Zoey has a team of therapists and teachers that have helped tremendously. Zoey can wave hello and goodbye, blow me a kiss, give high fives, climb stairs, run, jump and loves spinning to get herself dizzy. These are simple gestures that I thought she was never going to be able to accomplish. While she is non-verbal, we always have hope that one day she might find her voice.

Zoey has been through more in her four years of existence than most go through in a lifetime. When she was 6 ½ months old she started having infantile spasms, I remember calling the on-call pediatrician because it was a Sunday, and she told me, oh she’s probably just teething. Zoey would cry, and when she stopped, her arms would go above her head and her thanksgiving at columbia presbyterianeyes would roll to the back of her head while her legs crunched up. I knew it was not teething, so I called her everytime she had a spasm and had an EEG appointment made in two days.

Zoey spent her first Christmas Eve in the hospital and started a steroid, ACTH. I had to give her an injection every morning in her thigh. I remember the first time I had to do it at home. My dad came over to help me and hold her leg because I was so scared she was going to move. Lets face it, this steroid was a nightmare. All she wanted to do was eat, sleep and poop. But thankfully, because of the TS alliance, I was able to make contact with a fellow TSC mom, Cindy. She helped me get an appointment with a new neurologist, Dr. Orrin Devinsky, at NYU. He wanted her to start Sabril immediately. I am not even sure if Cindy remembers helping us, or if I ever thanked her enough because with Sabril, Zoey’s spasms stopped after the first dose and she still has to take this medication twice a day.

Zoey’s development had worsened after the spasms. She had a difficult time trying to crawl because she had gained five pounds in three weeks from the steroid, but Sonny, our superhero helped her. She was crawling at 9 months and started walking at 15 months old.

Then when she was 17 months old, Zoey vomited and turned blue. She was rushed to the hospital, where countless medications were given to her, and even a defibrillator was used on her. I thought we were going to lose our little girl. Once they put a central line in her thigh, the medication finally stabilized her after two hours, the longest two hours of our lives. They diagnosed her with Wolf Parkinson’s White, an extra electric charge in your heart causing dysrhthmia.  Zoey spent eight days in the hospital trying to find the right dose and right kind of medication to help keep her heart beat at a normal rate. She takes flecainide and amiodarone still, just to maintain her rhythm.  We spent Thanksgiving in Columbian Presbyterian Hospital that year, and you know you’re supported when your sisters and brother-in-law show up with Thanksgiving dinner, crockpots and all. We ate a very thankful meal that year for having our Zoey with us.

Well wouldn’t you know it, two days after she was released, Zoey was unresponsive again; we assume it’s her heart and call 911. She gets to the hospital, and it’s now seizures… hospitalized again, and prescribed Keppra. Well that month of December 2010 proved to be a crazy one. I stayed with my parents because they live so close to the hospital. That was a good decision because she had a seizure every 2 weeks that she could not get out of; she was hospitalized a total of eight days in December, including New Year’s Eve.

Some years are good, and some are bad. Last year, 2012, Zoey had some rough seizures. Zoey never gets out of her seizures. She always needs diastat, an emergency seizure medication, to stop the seizure. But then she has shallow breathing so she needs to be intubated…that happened six times last year. Most of Zoey’s seizures have been febrile as her immune system is slightly weakened, since she is on a newly FDA approved drug called Afinitior, a chemotherapeutic drug. Afinitor is prescribed to try and shrink a TSC person’s SEGA. Zoey’s SEGA has shrunk and is now stable. Her doctor said that she still might need brain surgery one day because of how large her SEGA is, but for now, thanks to the medication, she does not need to have any surgeries. We also had her start a vitamin, probiotic, and that seems to help her fight off any illnesses she might receive.

While my husband and I never planned to have a special needs child, we do. Now we just try to keep our sense of humor about everything, and realize she is the strongest person familywe both know. I mean when you get a needle stuck in your arm to take blood for the umpteenth time, and you just look at it, and then just start playing with your iPad like the needle is not there, that’s pretty amazing for any child.

Zoey is also one of the happiest kids you would ever meet. She is always smiling, laughing and hugging everyone. Everything she goes through has not changed her demeanor. She refuses to let TSC run her life and chooses to just be happy. Her outlook on life has helped us keep our sense of humor and live everyday to the fullest.

I like to find the humor in the fact that you never thought you would be writing her teachers asking if she had any bowel movements because of how constipated she gets from her medications. Or your mom texting you that her poop was “hard like little nuggets, I gave her some prunes.”  But it’s humorous and gets me through the hard days.

We try to find the humor in everything we do, even the hospital visits, especially when you are dealing with doctors who sometimes forget how to talk to parents. Zoey had been intubated and was being moved to PICU when her tube came out and she started crashing in the hall. They had to rush her back to the ER to fix it. Everything was fine in a few minutes, but the ER doctor turns to me and goes, “Well that was scary, huh?” Really doc, is that appropriate to say to the worried mom? And then he high fives your husband and says ,“Until next time.”  Your husband just replies back “Well, I hope not.”

Nurses have also told us that we are the calmest parents they have ever met. We have learned in Zoey’s 26 hospitals stays to just kind of stay out of the way, let them do their job and when she is stable you can hold her hand and lay with her. We remember a nurse saying, “You guys are amazing. I mean you are sitting here watching and just waiting patiently, when we have moms here who have a kid that stubbed a toe and they are freaking out.”  See, humor gets me through these times.

Our family refuses to receive a “pity party”. Instead of people feeling sorry for us, we decided to try and raise awareness for an unknown disease. We have attended the TSC walk in Wantagh Park, NY every year it has existed; this will be the fourth year. Our team is Zoey’s Entourage. All of our family and friends come and support TSC and our team has raised over $15,000.00 for the TS alliance. This year the walk is on September 21, 2013. You can find our team page below, with pictures of Zoey and her story:

http://my.e2rm.com/personalPage.aspx?SID=3720000&LangPref=en-CA

We’ve also met an amazing family, the Spears, whose daughter, Ally, also has TSC and they are the chair people for the Wantagh walk. Their family has a fundraiser every year for TSC before the walk to raise donations. We finally got to attend last year and donate some baskets for the raffles. It was a great time. I met fellow TSC families, watched people empty their pockets for an unknown disease, and win a couple of baskets as well! If you are in the NY area and want to get out and have a good time, and raise donations to help find a cure, join us or if you know a company or yourself would like to donate items to for the raffles, contact me and I can give you some information:

August 12, 2013 from 6PM-11PM.

The Nutty Irishman

323 Main Street

Farmingdale, NY 11735

 Just $10.00 entry fee, for a fun time, with live music, raffles, Chinese auctions, food and a cash bar.

 

This year our local High School’s Key Club had a fashion show honoring Zoey. They were raising donations for our family’s medical expenses and helped raise awareness for TSC. The halls were covered in blue TSC ribbons and the crowd there was their largest yet. Even the elementary school wanted to get involved and had a “Zippers for Zoey” day. They all wore zippers and if they did not have one, the teachers put zippers on pins and the kids wore them all day. The Key Club made a video raising awareness for TSC and sharing Zoey’s story. I might be a little biased, but it’s the best video ever made, it should win an academy award. The link is below if you would like to learn a little more about TSC:

http://www.youtube.com/watch?v=PEK9N4NgwEY

Our family will always raise awareness and give everything but up in trying to find a cure. Zoey has had seven MRI’s (so far), been intubated six times, has had 14 EEG’s, and too many blood tests to count, but she gets up from all of her procedures with a smile on her face. So we just take it one day at a time. Some days are harder than others, but Zoey does not let that bring her down.  She gives the greatest hugs in the world and is our warrior. I can listen to her laugh all day long. So no pity party please; we are way too busy laughing, hugging and smiling the day away.

 

Renee

Email: Rseiling3@gmail.com