And now a word from another mother…..

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 worrying that we’d be the victims of some undiscovered side effect. I lost sleep the night I ate some cheese off the naughty list. Hours were spent choosing the perfect pregnancy workout DVD that I only used once because I was too damn tired.

 

I changed the channel when Autism Speaks commercials came on. I couldn’t stand to hear the statistic at the end. We even had genetic testing done to rule out some of the more common genetic disorders. But everything rolled along fine; I didn’t even have morning sickness. Piece of cake…until week 30.

There was something strange about the heart at this visit. Words like calcium deposit, irregularity of the heart wall and the weirdest one–rhabdomyoma, were mentioned. Nothing was conclusive. But a heart defect? I hadn’t really thought about that, which is weird considering my husband had a brother who passed away in infancy due to one. I remember picking up a pamphlet and being shocked to read that the rate of cardiac defects is 1 in 100 births. Subsequent checks revealed it wasn’t growing or interfering with the heart, so by the time Connor was born, we had dismissed it as a harmless anomaly.

I worried about so many things I’d heard of–I never thought to worry about the things I hadn’t.

Tuberous sclerosis complex. Or “tubular-what?” as we knew it in the beginning. Within hours of birth Connor began to have seizures, and that, coupled with the “irregularity” in his heart, led quickly to diagnosis.

We had actually dismissed TSC weeks earlier after a Google search revealed how rare it is (estimated 1 in 6,000 live births). That kind of thing didn’t happen to US.

Now we were being told that it was indeed this rare genetic disorder and Connor might be facing brain surgery in the first few weeks of his life. Who do you talk to when it’s something nobody has ever even heard of? I’ve never been much of a math person, but I figured if it was estimated that 1-2 million people were living with it worldwide (which is a mere fraction of the population of Atlanta, and an even tinier number in the context of, say, the Chinese population) we were maybe the only people in Georgia. Definitely the only people in the Atlanta area.

Crazily enough, a Google search located another family in the area that had faced brain surgery at three weeks of age. I couldn’t believe that the one other person in Georgia that had it was so close. I contacted Wendi, who was the local chair of the TS Alliance, to get the details on her son’s surgery. At the same time I was registering shock that there even was a local alliance chapter at all. I had been shocked to find the national one. Then we found out there was a Step Forward to Cure TSC event scheduled a mere couple miles from my parents’ home. More and more people were appearing on the grid. The world was getting smaller. I didn’t understand how these people were living in such close proximity, and I had no idea.

Then came the Internet. I eased myself in slowly, “stalking” people with TSC that were doing well and living fairly normal lives. I had a love/hate relationship with Facebook as it was starting to give me answers, but how I hated my friends that posted pictures of their perfectly healthy children. It took time to join discussion groups where I also saw the more extreme end of the disorder. Not surprising considering I had buried the book of TSC stories we were given in the NICU in a drawer, not to see the light of day for several months. But once I was in, I was in. I found more peace, both from interacting with adults with TSC and from seeing the pure love from parents of more severely afflicted individuals. Gradually, my pain at seeing my friends take home their babies three days after birth subsided.

I started my blog in hopes of being part of the movement to get the word out. Let’s face it, people are more inclined to donate to and support research of things they’ve heard of. It’s frustrating to know that TSC is more common than Lou Gehrig’s disease and cystic fibrosis, yet I ask you, which of the three had you heard of before?

For the past month, I’ve hosted guest bloggers sharing their TSC stories in hopes that it will spread the word and help someone, perhaps the people who came to my blog by Googling “my child was born normal now we are told he has ts complex” or “my baby is diagnosed with rhabdomyoma now what.” The Internet saved me from drowning in bitterness and anger. I no longer feel targeted by God (even if I do have some residual anger) or punished for some unknown offense I committed. I wouldn’t exactly call it “misery loves company,” because I’m not miserable, but it’s so amazing to not feel alone. On May 1, the first day of Tuberous Sclerosis Awareness Month, my newsfeed was flooded with everyone sharing the accomplishments of their family members with TSC. It almost felt like a holiday, albeit one I’d gladly give up in exchange for a cure. I’m now friends with so many people in the TSC community that my perception is almost skewed to the other side. How do people NOT know about this condition? It’s everywhere!

I don’t know how people coped with rare diseases and disorders before the Internet. It horrifies me to think that it wasn’t that long ago that people believed they were alone. And there are still people out there that think that. I just recently met an adult with TSC who thought she was the only one until just recently. She’s 29 and just now getting connected.

So thank you to all my guest bloggers and all who share their stories in our groups. I now have friends, like Tina here, that I’ve never actually met. You, and a supportive family, are a large part of the reason that I can tackle this every day.

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Earthquakes and other tremors

Yesterday morning I was sitting right where I am now.
I was sipping my first cup of coffee in 6 days (thank you post op), enjoying its rich warmth.
The sun was shining.
My husband and daughter were en route to a track meet.
Jackson was enjoying his morning combo of cereals and Elmo on the couch.

Ah.  All is right in the world, right?

Then the earth shook.  Literally.
It was one of those low rumbling quakes that feels like there is more coming ……
but it didn’t.
When it started, I ran right to Jack and waited.
Jackson? Well.  He seemed pretty non plussed.

I sat there with him for a few moments.  And waited.   Then waited some more.
If you have ever experienced any type of earth quake, then you know it leaves you feeling…
Vulnerable.

A few deeps breaths, the realization that THAT was it.

And then back to our regularly scheduled day.

Clay and Darrah?  They didn’t even feel it.  Other friends on Facebook? A few random posts here and there.
In the great grand grand scheme of things, it wasn’t that big of a deal.
Just one of Mother Earth shakers, relieving some deep seated tension.

The rest of our day progressed nicely, if not lazily.

Nicely till the evening, that is.

Early evening Jack started getting moody.  Cranky. He was making demands.  He was throwing things.  He was trying to bang his head.
He was not using his words.  He was frustrated (WE were frustrated) .  Nothing seemed to placate him.

Finally, we urged him to start his night time routine a bit early
(in the chair with Daddy under his favorite blanket)

So, allright. *deep breath*  He settles in a bit.  He was tired, we reasoned.  Big day walking around his sisters track meet.

Then, we see it.
If you don’t know what to look for, you might just think he was thinking about something he liked.
He smiled.
A big, crooked grin.
Or, as we in the epilepsy biz call it : the ictal smile.

It didn’t last too long.  It also included a few head nods, a blank look.
But 5 seconds can seem like 5 minutes when you are waiting it out.

It passed.  His body relaxed.  He snuggled in to Clay.
Clay asked: “Hey, buddy, did you have a seizure?”
Jackson replied, “seizure”.

We sat there with him for a few moments.  And waited.   Then waited some more.
If you have ever experienced any type of seizure, then you know it leaves you feeling…
Vulnerable.

A few deeps breaths, the realization that THAT was it.

Jackson’s mood returned to normal.  He was not wore out like other seizures.
He played with his sheep, he laughed.  He asked for things.

And then back to our regularly scheduled night.

In the great grand grand scheme of things, it wasn’t that big of a deal.
Just one of Jack’s  smaller quakes, possibly relieving some deep seated tension.

You DON’T know Jack

SO here we are — It’s May and that means Tuberous Sclerosis Awareness Month…..

I  could start in on cold hard facts about seizures, tumors, medication et al, ad nauseum, but I thought it would be better to tell you about the little boy– some things about who he is, rather than what he has.

 

  • Jack has an airplane pillow that he loves.  It is made out of an old t-shirt his dad bought him that had a P40 with sharks mouth on it.  When the t-shirt became too small, I turned it into a pillow just on a whim.  Had I known it was going to be such a big hit, I would have crafted it better.  No matter.  It got worn down and loved on and became threadbare.  So the picture got cut out, reinforced and sewn onto ANOTHER t shirt pillow.  And it is still a much beloved and cherished comfort item.  When sick, when tired, when in need of comfort, Jackson will ask “Airplane pillow?
  • Jack has, over the last year, developed a sense of humor.  While he will often shout -seemingly out of nowhere “FUNNY FUNNY”, he has learned how to “trick us” on purpose.  He will show us the base of a stacking toy– a circle– and say “It’s an octagon!” to which we will reply “That’s not an octagon, that is a CIRCLE!!” And that just delights him and tickles him to no end.  He will do this with other shapes and items for the sheer joy of being corrected.
  • Jack is very enamored of his sister Darrah.  He will stand at the end of the hallway (where we have placed a gate) and yell to her room “Darrah!? Ner are youuuuuuooou?”  He loves to sit on her bed with her while she plays video games or listens to music. When she has friends over, he will do the same thing and all of Darrah’s friends treat him with kindness and respect.  He has learned the word “sister” and hugs and kisses her every night before bed.
  • Jack has made a lovely friendship with my ex husband.  While it seems rather unusual to people, my ex (Darrah’s father) and I have an incredibly great relationship.  S0 much so that Clay and I  encouraged him to move in to the mother in law unit on our property.  He delights in blowing bubbles over the fence for Jack and Jack always says hello to him -WITHOUT prompting– when he comes into our home.  They are both fairly solitary creatures and I believe that they recognize that in each other.
  • Jack tells me about his day when I put him to sleep at night.  Over the sound of the sleep machine, his hand in mine, I get to hear about rectangles, spinnings, straws, woo-hoo, and other mumblings.  Then they taper off and I get to hear a soft snore not unlike the purring of a cat.  Jack lives and plays hard.  It’s only natural that he sleeps pretty hard, too.
  • Things that amuse and delight Jack : Straws, circles, Crocs, baseball, fans, rectangles, Spongebob, Elmo, a book about Cats, Legos, Daddy’s HAT on his HEAD!, fuzzballs in the breeze, balloons, the moon, throwing things, warm breezes, the bounce-poline, and watching children play.  This list may be amended at any given time.
  • Each of us in our immediate family is “authorized” by Jack for a certain story.  While each of us is certainly capable of reading to Jack, we are each associated with a book and no one else can do it “right”.  For me, GOOD NIGHT MOON.  Darrah gets the CAT BOOK.  And Daddy reads the Spongebob series.
  • Jack is a force of nature. There is a purpose about the way he walks.  He is never bored. He is always aware and watching

This is but a sliver of who Jack is.
There is also more courage and joy  in him than you could possibly imagine.

Every day is journey.  Every day is discovery.

And every day holds the possibility of seizures.
And every day he has over 30 tumors in his brain.
And every day he is severely autistic.

EVERYDAY is Tuberous Sclerosis Awareness Day in our home.
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