Category Archives: Tuberous Sclerosis

Parenting, Tuberous Sclerosis

Self Prescribing Some Wine for my Whine

Leave a comment

My frustration and irritation level is way up this week. We’ve been looking at the possibility of reducing the price on our home since we’re getting so many looks, including three second looks, but no offers. Then we got the heads up that another jerk in the neighborhood is going on the market this weekend priced almost $10,000 less and with a bonus room we don’t have. So we preemptively dropped the price and are hoping for a miracle before they hit the market. And unlike the other house that went on the market in our neighborhood that is under contract despite rotten wood and a lousy yard, this one actually has great curb appeal. Oh, please let it be a brass-infested wonderland inside. And if they go under contract first and accept an offer below a certain price point, we’re screwed and stuck where we are.

We had some people view the house yesterday that reportedly loved it. Except they have a second child on the way and they want more room. I’m not real clear on why they looked at all. Stop getting my hopes up, people!

Then, to top every thing off, Connor’s neurologist called yesterday with the results of his EEG. The stupid tuber in his left occipital lobe is acting up again. It has put out spikes before, but apparently Connor is having subclinical seizures again. Those are seizures that have no outward appearance, but show up on EEG. The tuber he had removed when he was four months old was causing him to have a couple subclinicals an hour, plus a handful of clinical (ones we could see) a day. We haven’t seen any on EEG since then. Yay. Here we go again. He assured me that this was nothing like when Connor was born but he did see more than one in the eight hours. Mother F. When we started him on Trileptal, we upped the dose once per directions, but never upped the second time — per directions — since we weren’t really seeing anything anymore. So now we are upping and will have another EEG once Connor is totally off the vigabatrin.

I’m just really baffled by the whole concept of a subclinical seizure. I know what the technical definition is; I just don’t get how it affects him. Yes, I understand it’s not good to have funky brain activity, but if he shows no outward signs, how is it affecting him? Like, if I had one right now, what would it do? Does he feel something we can’t see? Connor is happy and progressing, but would he be progressing faster without them? Maybe. Or would it even matter because so many factors go into delaying a TSC kid? If by some crazy chance, someone with epilepsy reads this and has subclinicals on their EEG, if you could enlighten me to your experience…

UnknownSpeaking of progression, here is an area where he is fighting us tooth and nail. The bottle. I cannot get that kid off the nipple. He doesn’t care what style or shape the cup is  — he’d probably even drink out of Flavor Flav’s chalice — it just better have a nipple on top. The hard plastic sippy cups inspire instant anger and hurling of the container, so we tried the sippy cups that are interchangeable with his bottle. We can either have the sippy cup mouthpiece or the regular nipple. He hates this sippy cup mouthpiece a little less because it’s pliable like a nipple, but other than sticking it in his mouth a few times, he just plays with his bottle. His speech therapist gave us some things to try, but thus far, no luck. Maybe his college roommate will shame him away from it.

I mean, how much difference can there be?!
I mean, how much difference can there be?!

I leave you with a montage of Connor’s funky sleeping positions. Apparently some people have to plan their whole day around their kid’s naps. Not me!

photo-35

photo-37

photo-39

photo-38

photo-33

photo-34

Please click the icon to the right to vote for me on Top Mommy Blogs! You don’t have to do anything other than click it. I get a lot more referrals from them, the higher I’m ranked!

Ordinary Life, Parenting, Tuberous Sclerosis, Uncategorized

There’s even room for a beer fridge on the porch!

1 Comment

So that neighbor I told you about? The one the put his house up for sale? They got a contingent offer of some sort. So I’m annoyed they got one first, but at least they are now out of the running. Plus, according to my realtor, they aren’t set to close until the end of July. At least if they accepted a lowball offer, and I have no idea if they did, it won’t affect our comps. I’ll be curious to see what they get though. We attempted a walk through with our realtor, but when we got there, there was a note that said not to enter without showing instructions. Uncertain what that meant, and if there was an alarm, we didn’t go in as we were unable to get the realtor on the phone (the house is empty). I can tell you there is a lot of rotten wood on the porch.

In the meantime, we continue to have plenty of showings, but no luck yet. I’m starting to hate the Autumn Lake neighborhood near us which shares our floor plan, and has a ton of homes on the market. I know one of our weekend viewers bought one over there because it had a master on main. She didn’t even know she wanted that until she saw it. It was otherwise very similar. Stupid, stupid Autumn Lake.

We’ve had three people come back for repeat showings. Always the bridesmaid, never the bride. One of those was also this weekend. We were in her top 3…number 3 of course. She ended up choosing a house on a lake even though at the original showing, she was so afraid of snakes coming up, that she wouldn’t even go in the back. Well, alrighty then.

We went house hunting yesterday for the first time and of course I fell in love with a house. It has everything I want, though the price requires some negotiation. So far, I have been the chill one about having the house on the market, while Chris has been very antsy and agitated. Now I’m irritated. Let’s move this along already. I WANT that house. It’s more space, a screened in porch, and all the upgrades I could want.

In happier news, Connor is crushing it–life, I mean. He just got himself into a sitting position on his own for the first time a little bit ago. He’s babbling mamamamama, too. His newfound mobility has proven to be quite the life adjustment for us. I know everyone goes through this, but we’ve had 15 months to develop lazy habits about where we could set him down. Now his new hobby is hurtling himself off furniture. First it was the couch, which startled him, but he was okay. Then he made it off our bed, landed in a sitting position, and thought it was hilarious. But then it was the changing table, and while he wasn’t hurt, I think he scared the crap out of himself. I know I certainly stopped breathing when I heard the thunk. All I did was turn away to grab a diaper! So now I have to keep reminding myself that he cannot be left on anything at all even for a second.

I’m also excited that after years of trying to have kids, my friends Giovana and Damien are down in Colombia to pick up their son David. More on that when they return in 5-8 weeks…

Gio and Damien's mustache-themed baby shower.
Gio and Damien’s mustache-themed baby shower.
Parenting, Tuberous Sclerosis

At least we have an efficient government…nope, couldn’t type it with a straight face.

3 Comments

I just want to make sure I have this completely straight. The government program we’re eligible for to help cover Connor’s insurance premiums really needs EVERY SINGLE EOB from 2012? Okay, kind of a pain, but call to United Healthcare made. Wait…you mean the program that I called on their assistance line weeks ago that never called me back? You’re telling me that a government worker who doesn’t have time to return a phone call to a concerned mommy is going to read all THIS before they can approve us?

Kinda thought these would be a little more consolidated, but hey, I'm sure premiums would never go up to cover excessive postage ;)
Kinda thought these would be a little more consolidated, but hey, I’m sure premiums would never go up to cover excessive postage 😉

 

It must be true though. It’s not like these programs for people with disabilities and health problems would ever make people jump through hoops to discourage them from applying…

Or would they?

Bsaaa hahahahaha!

 

 

Parenting, Tuberous Sclerosis

When you put electrodes on my head, can you see how annoying I think you are?

2 Comments

“Oh good. I get a day off from having crap on my head so that I can have crap on my head.”

Connor doesn’t talk, but I imagine that’s what he would have said yesterday if he could. A whole day without his cranial remolding helmet, but he ends up with electrodes and gauze everywhere. And you might think, oh, poor Mixed Up Mommy. Having to spend eight straight hours in a doctor’s office while Connor has an EEG. Actually, I’m pretty sure nobody is thinking that, but that’s okay. As long as it doesn’t involve a check-in at Scottish Rite, I’m fine.

What? No helmet today? Sweet!
What? No helmet today? Sweet!
Oh. You weren't real clear, Mommy. Thanks for nothing.
Oh. You weren’t real clear, Mommy. Thanks for nothing.

This EEG was a little more challenging now that he is mobile. There was a lot of rolling, tangling and attempts to play with cords. But considering only one electrode ever fully came off his head, and I was able to reattach it, I consider it a victory. We read some books, played, I worked on an article and we took a long nap together on his jungle mat.

The EEG was just a check-in to see how things are going since we are starting to wean him off the vigabatrin. His spasms have been controlled since last September, so we’re hoping there’s no more need. We introduced Trileptal a couple weeks ago to see if that, along with the Keppra, will knock out the complex-partials he’s been having. It seems to be helping as they have become fewer and farther between. He had none yesterday, naturally. Overall, he’s doing well in the seizure department. Even though he’s not totally free, the few he does have are 10-20 seconds of pursed lips and staring and he snaps right out of them. I think the EEG will look as normal as it can — meaning his EEG will probably never truly come back normal due to the tubers, but that’s okay as long as nothing is going on that negatively affects him.

photo-29

Aren't you going to share your Dunkin' Donuts, Mommy?
Aren’t you going to share your Dunkin’ Donuts, Mommy?

photo-26

So sweet to share your chicken noodle with the EEG machine.
So sweet to share your chicken noodle with the EEG machine.

photo-23

That's cute that you big people think you can keep my head wrapped in gauze for an entire day.
That’s cute that you big people think you can keep my head wrapped in gauze for an entire day.
Anxiety/Depression, Parenting, Tuberous Sclerosis

Sweet Dreams? Not Likely.

1 Comment

IMG_3852Now that Connor has finally decided that being on his stomach isn’t so bad, he’s rolling all over the place. If you set him down on one end of the room, I can guarantee you that he will soon be on the other. I wonder if he thinks to himself, man, if I had just realized how fun this was months ago when I first rolled over? He’s attempting to get into the crawling position, too. He also attempted to climb off our bed the other night. Maybe now, with all his progress, the dreams will stop.

I have these repetitive dreams in which he either starts imitating consonant sounds or starts saying words, and others where he starts to walk. They are, quite possibly, the most realistic dreams I have ever had. Every time I wake up from one, I spend a few moments discerning whether or not it really happened. When I realize it was a dream, I always feel profoundly disappointed and sad. But he’s getting there. He’s progressing every day.

1986 Ford Aerostar (USA) p1

Repetitive dreams both fascinate and annoy me. I’ve always had them, but they seem to change with each phase in my life. The ones I most vividly remember from when I was a kid involve cars, specifically my parents 1986 Ford Aerostar minivan. My parents bought the van upon our return from being stationed in Okinawa, Japan. We were headed to Merced, California, where we would take many drives to Yosemite and all over the west. My dreams at that time had me in the third seat of the van, on the winding mountain roads we so often took trips on, but there was never any driver. It always appeared to be just on the precipice of going over, but it didn’t happen. I was helpless in the back with a distinct sense of having no control.

My other car-related dream consisted of me sitting in a passenger seat of car of uncertain origin. Sometimes it seemed to resemble my mom’s 1966 Mustang, which she drove until 1992, when we moved to Atlanta and my parents bought an Explorer to accompany it’s Ford friend, the Aerostar (that damn van wouldn’t die for a few more years, subjecting me to the  humiliating experience of having a driver’s license but not always being able to convince my parents to give me the Explorer for the evening). It’s 2013, and the Mustang is still in the garage buried under the remnants of my parent’s children, who moved out, but refuse to come back for all their stuff. Anyway, in the dream, I don’t know who was driving, but there was a hole in the floor of the car where my feet should have gone. My stuff would fall through, and I would fight not to fall onto the pavement as it rushed by underneath.1016523_581155591950517_1902471778_n

At some point I went from cars to dinosaurs. I can probably blame Steven Spielberg for that. Dream after dream I was in some random house with other people, mostly my age, but not always, hiding and dodging raptors and–whatever that dinosaur was that nailed Newman in the movie. If I could just get to that elusive front door, I would be okay…

Around the time I went to college I started having the worst dreams ever–the paralysis dreams. I have read somewhere  that these may not be dreams, that it’s actually your brain waking up before your body–but either way, it’s terrifying. I would seem to wake up, but was unable to move or even open my eyes. I’d struggle with all my might to move from my frozen position, but it felt like several minutes before I could. In reality, it was probably just seconds, but it did nothing for my severe claustrophobia. Sometimes it would happen during a nap and I’d finally fly up off the bottom bunk, gasping for breath, roommate fearfully inching away from me.

Then came the teeth dreams that persist to this day. I discover that a tooth is loose, and unable to keep from messing with it, it ends up falling out. It has always been just one tooth until just a few nights ago when I lost three. I’m hoping that just means it’s the end of a dream era.

funny-crazy-creative-toilet-bowl-design-28Then there are the dreams of never ending frustration. One is the entirely standard “I have to take a final, but I never went to class and I don’t even know where to go” dream. Not very much original material there, except that I’m always trying to make my way from  my dorm on University of Georgia’s south campus to my class on north campus. I always seem to be on Sanford Drive, past the stadium and near the journalism building. I also have dreams where I am desperately looking for a bathroom, but no matter what bathroom I find, it’s impossible to use it without being visible to the public. Sometimes that’s because it’s just a huge, unisex room of toilets, and sometimes there’s a huge window facing crowds of people passing by. And finally, there are the dreams where I have to move out of wherever I am living, but can’t make any headway with packing. Things just keep coming up that get in the way.

Notice an unpleasant theme here? They’re all anxiety-based dreams. And I have them even when my waking life is in a state of pharmaceutically induced calmness. No repetitive dreams about Bradley Cooper, or winning a million dollars, or getting back into my size 4 jeans. Nope. Just the ones that leave that icky feeling that last through the first cup of coffee.

So tell me, what do YOU dream about?

Parenting, Tuberous Sclerosis

If I Were To Unleash Termites on Someone’s House, What Kind of Criminal Charges Would I Be Looking At?

3 Comments

Today started with me wanting to go into a near rage. Last night we discovered a house in the next cul-de-sac over–we live in a very small neighborhood–just went on the market. We were not thrilled. This morning it was online. Bigger. Same price. I wanted to knock on the door and punch the owner in the face. Pictures didn’t go up for a couple more hours, but after driving by a couple times, and finally seeing the pictures this afternoon, I can offer the unbiased opinion that their house sucks. Sure, they have a little more space, and a little more granite, but ours has better curb appeal and better lot. Plus I emptied a container of termites onto the property. Okay, not really, but I wanted to.

The very first person that looked at the house this week was a guy that loved it. We were unable to leave as his tour overlapped Connor’s in-home speech therapy, so we just sat on the porch until the therapist arrived. After the realtor left, he even came back and knocked on the door and asked about the neighbors. Then he brought his wife back that night. It just seemed too easy, right? I was nervous about the wife, and was right to be. She is said to have liked it a lot, but thought the living room too small. Ugh, women! Am I right? They only need to be in charge until it doesn’t benefit me. 🙂

I’m feeling a little better about it this evening though as we have another repeat show coming in the morning. A person who toured it this morning has it in their top 3, so fingers crossed.

Note the orange drool hanging down.
Note the orange drool hanging down.

We met with Connor’s neurologist yesterday, and we’re very excited that we are now weaning him off Sabril (vigabatrin). This is the med he started due to infantile spasms last September. His spasms have been controlled for quite some time, and we are hopefully past that hurdle. We’re really hopeful we’re done with this med. He’s still on Keppra, and now he’s starting Trileptal since he still has what we think are complex-partials that consist of him clenching his teeth, going slightly limp (not losing consciousness), puckering his lips and staring to the side for 10-20 seconds. We see roughly 1-2 a day, and some days none. The vigabatrin wasn’t curbing those, so since the spasms are done, no need we hope. He snaps out of them quickly and they don’t have the lingering effect of other seizures and make him fall asleep.

No more mixing those stupid powder packets, hoping UPS shows up with the meds, and no more ERGs and ophthalmology appointments! Since vigabatrin poses risk to peripheral vision, anyone with a prescription is required to have frequent eye exams and ERGs, which require him to be knocked out at the hospital. Fewer trips to Scottish Rite? Yes, please!

I recently discovered that insurance is being billed $7,000 a month for this particular prescription. And herein lies the heart of why our medical system is so jacked up. We’re so worried about everyone getting insurance, that we’re not paying attention to why everyone needs it so desperately in the first place. Big profit. The jacked up cost of medical care in this country, plus the complete lack of rhyme or reason to why things are priced the way they are, and the lack of uniformity in these prices is the problem. It took a very disturbing recent Time Magazine article to even make hospitals accountable for making their chargemaster lists public. Where else do we walk in to make a purchase completely blind to what kind of charges we’ll be facing in the end?

Sabril (vigabatrin) only received FDA approval a few years ago. Before that, most people got it from Canada. A months’s supply was a couple hundred bucks (I’ve seen people mention figures ranging from $100-$500 per month on the TSC boards). Since it was not approved, it was not covered by insurance. Now, that is a heavy fee on a monthly basis, but what can you do? Insurance isn’t going to pay for a non-approved drug. Well, then it got approved. How nice! Now insurance can pay for this important med that costs hundreds of dollars. Oh, but now it suddenly costs thousands! Now, I will say the manufacturer has a program called SHARE which offers co-pay assistance, so this drug that would probably cost people like us an astronomical co-pay of a grand or more, is actually affordable. We only pay $30. Some people pay nothing. I’m not aware of anyone being turned down. But it’s still profitable. Obviously this drug costs nowhere near $7,000 if Canada can sell it for a fraction of the cost. So even if insurance cuts a deal to pay only $4,000, and the patient gets a pass with the assistance program, those are big bucks. Connor’s last 3-day EEG

Colin Farrell- sundance

cost $12k just in room and board. And I couldn’t even get them to bring him a damn band-aid.

On a different note, I don’t know what rock I’ve been under, but I just became aware of the fact that Colin Farrell’s son also has a rare genetic disorder, even more rare, called Angelman Syndrome. I had only recently become aware of this disorder due to a Facebook page I follow of a woman whose son has it. I think it’s really awesome that he is speaking out about it and bringing attention to rare disorders. He recently spoke at an epilepsy event, as seizures are something that TSC and Angelman have in common. Very cool.

Related articles
Ordinary Life, Parenting, Tuberous Sclerosis

Anybody Want to Buy a House?

Leave a comment

IMG_3661Connor had a good report from the physical therapist today. She was excited to hear he is pivoting in the sitting position, and he was also much more cooperative in making transitions. We’re at a point where he can maintain a crawling position, rock back and forth in it, and reach out for objects, but he needs assistance getting into it. He’s getting better at sitting back down on his own. He can also maintain a standing position, but needs assistance transitioning into that position as well.

Working on his physical therapy just got a whole lot more aggravating since we put the house on the market this weekend. Decluttering the house meant moving all his PT equipment into the garage. Making myself do PT with him is already hard enough–not because I don’t love spending time with him–but because therapy isn’t exactly what you envision doing with your child when you decide to have one. Going to get something from the garage really shouldn’t be that big of a deal, but that’s me. Not to mention, my attention span has become so awful that a million things distract me on the way and I forget what I wanted.

I spent a good portion of today cleaning scuffs off walls and doors and trying to turn the shower floor back to a non-vomit inducing color. Plan of attack for the shower: Chris laid a coat of Comet with bleach on it at 6 a.m.  and every so often I run some water and re-cover the surface. Twelve hours of this should do the trick, right? This is pretty much the last resort.

A couple did a drive-by on the house and I got down on all fours ninja-style to watch them watch the house. My life is pretty exciting.

Yesterday we got so carried away working on the house, that changing Connor’s diaper slipped our mind for an extended period of time. It wasn’t until he was bouncing in his jumperoo, and the downward motion would cause a cascade of urine to gush out onto the floor from his drenched diaper. I’ve always been grateful that the state of his diaper has never been a source for fussing, but I’m realizing that with my easily side-tracked state of mind, it would actually be beneficial if he’d give me the heads up once in a while. Yes, I really just blamed my baby for over-wetting his diaper.

I’m very rarely seeing any seizures with eye movement, but we’re seeing 1-2 a day in which he slumps down, turns his head to side, puckers out his lips and stares. They last 10-20 seconds, and he snaps right out of it.

Fingers crossed we start getting people looking at the house soon. I really hate making the bed for nothing…

Since I didn’t post much during May due to hosting so many guest bloggers, here are some highlights from the past month:

We went to Florida to visit Chris’s parents.

IMG_3800

IMG_3786

IMG_3741

IMG_3685

IMG_3755

Connor went on the swings for the first time. The swing was hot so I finally got to prove to Chris that it IS good to keep “crap” in the trunk.

IMG_3869

IMG_3881

Connor rode up in the cart for the first time.

IMG_4030

We watched Cousin Cody play baseball.

IMG_3841

We had coffee and watched trains with my parents in downtown Norcross.

IMG_4021

IMG_4020

Seriously, it’s making me sad that nobody is entering my giveaway. You don’t want to make me sad, do you?

Current Events, Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

Forgetting Yourself…and Finding Yourself

Leave a comment

Day 23 of Guest Blogging for TSC Awareness

By guest blogger Susan McBrine

Being a mom  is the hardest job any woman ever has. No one prepares you totally for the complete neediness of a baby, or the way you suddenly know for the rest of your life you will love this baby with a love you didn’t know you even knew how to give.

You are in awe of this feeling and overcome with joy every morning when you stagger sleepily into your baby’s room and see her tiny face light up when she sees you.

No one  can prepare  you for the absolute wave of grief that hits  you, however, when a few months later, a strange doctor tells you that  baby has tuberous sclerosis .

The baby you envisioned watching graduate from school, get married, become an adult… All those dreams of normalcy seem to vanish with two words spoken from a person you now want  to slam your fist into and call a liar! You ask why, why? And you are angry, sad, and finally determined to fight this disease. You also know that nothing will change the love you feel and nothing will stop you from getting this child the medical help she needs to live a happy life.

As the years go by , perhaps you have other children, perhaps your marriage fails or gets stronger, perhaps your friends you thought you had fade away from your life because your every waking minute is consumed with caring for the child who now has brain tubers, seizures, too many medications to count, kidney tumors, behavior problems, autism  and major developmental delay. Those friends have been replaced with, perhaps, other moms of a special needs children, who are  the only ones who understand your devotion to this special child. The child, who despite driving you mad several times a week,  is so endearing when she finally can say ” I love you ” and finally can interact and play with other children .

Your heart breaks for her every day and your heart celebrates every day at her slightest progress because it is a huge long-awaited accomplishment. You  stay awake at night wondering how you will pay for her medication, whether you are being a good enough mom to your other children, a good enough wife, a good enough teacher, worker; and you worry, most of all, if your child with TSC will live, have a quality of life , a future. And what will happen to her if something happens to you?

What you don’t worry about is yourself. You’ve forgotten to worry or even think about yourself most of the time because there is no time for you. Doctors’ appointments, IEPS, hospitalizations, blood tests, therapy appointments, more doctors’ appointments, medical tests, MRIs, EEGs, sonograms, surgeries, psych evaluations, teacher conferences, trips to pharmacies …

It seems endless and every few years another body part or organ pops up with a TSC symptom and you grieve all over again for the healthy  child you  dreamed of and you cry for the suffering  one you have now and love so much. The tears are always there just below the surface.. But so is the joy  that she has defied the doomsday prognosis, the life expectancy. And she has taught your other children compassion, kindness and tolerance. You are so proud of them and grateful they are healthy and normal.

You thank God for every day she lives and beats TSC and you thank Him for making you strong enough to raise her. One day you realize she has made you a better person! But your marriage may not have survived the strain because he was never really committed or never really dealt with his grief. It’s too late to wonder why. The marriage is over. It ends when you understand he isn’t capable of  standing by your side and never was.

Or your marriage and bond grows stronger, if you have the right  man, because of this special child.

Your child is now an adult with, perhaps, a child’s mind, and  you have spent your adult years in a career working with teens and children in regular and special education while raising your own and you realize you’ve  still forgotten yourself.

You’ve spent many hours explaining to friends, relatives, doctors, teachers and strangers what tuberous sclerosis is and helping other mothers  cope. And insisting to them that you are neither a saint nor a martyr for choosing to raise this child despite the many people who say,”I don’t know how you do it.” Sometimes they say that because they are secretly wondering if they could do it if it was their child. The answer is simple . You have no choice. Your child needs you.

One day you also realize that finding yourself will be the healthiest thing you can do. You meet and fall in love with a real man, just when you thought they didn’t exist (as I did) if your  first marriage has failed. Eventually all your children, except  your TSC child, leave home to successfully live their own lives. And then your worst fear comes true. TSC has won the battle. And in my case the following happened:

Your TSC child’s second kidney is failing after endless hospitalizations and medical complications, including a year with a feeding tube. Dialysis and transplant are considered, agonized over, and then your trusted pediatric neurologist and you make the decision that she would not tolerate either successfully, only prolonging her suffering. You can no longer care for her at home and work also, which you have to do, so you reluctantly, sadly, place her in a group home  with a nursing facility where she is surprisingly happy and social for a time. Meanwhile, you continue to work and travel two hours one way to visit her on weekends when you can get there.

About a year later she is facing complete and total kidney failure and you are facing hospice care for the child you fought and battled for 30 years to keep alive. Now you realize you have to allow her to die and end the suffering…it seems impossible to bear the grief  this time.

Even though you are finding happiness in life, your world is collapsing again because your baby, your first born special child is dying and you have to let her go after a lifetime of helping her to live. How does a mother endure this pain after you were chosen to learn all the lessons raising a special child has taught you? You lie awake at night wondering and  greiving all over again and you ask why? Why?

There are no answers…but you know after burying this child that the hardest thing a woman can do ever  is to be a mother and watch your child die.

Your other children continue to bring you great joy, pride and love in your life. You are so thankful you were able to experience the joy of raising other non-affected children to adulthood. Yet  you will always grieve for your special child and miss her unconditional love, total innocence and uncanny sense of humor in spite of all her suffering.

Yet you have found yourself finally…. Because you realize you were meant to be her mother to become the person you now are. This was my TSC journey and one typical of so many other TSC moms who have made similar journeys. But their journey will be more hopeful and less lonely because of the Tuberous Sclerosis Alliance. I hope all the moms find themselves because I know we all forgot ourselves for a time.
Global awareness has increased today. And there WILL  be a cure.

photo-9

Current Events, Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

Focusing on Today

1 Comment

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
Current Events, Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

Alee’s Advocate

4 Comments

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!!!

Related articles