Mommy, Can You Buy Me These?

Mia surprised me. We went into a gas station to pay for fuel, and we waited in line behind a mother and her three children. Mia was excited to see these other kids, even though she didn’t go up to them to try to play. She kept looking and smiling at them.

When they were done at the counter, they walked for the door, and I thought Mia was headed after them. I grabbed her hand and asked her to come over here with me. She started to pull away, and then started scooching towards the floor. I assumed that she was going to have a little bit of a tantrum, so I let her hand go but kept close watch of her out of the corner of my eye.

The next thing I knew, she was handing me a plastic bag of something that she had grabbed off of the shelf below me. I turned it over to find that she had handed me a package of Swedish Fish, one of only two candies that she actually eats.

She looked up at me with the biggest smile on her face, and her big blue eyes were full of excitement! She had found, and ASKED for something that she really likes, and who was I to say no? The child with no words, has more words with actions than anyone with vocabulary will ever have. The kid who never asks for anything in the store, was actually asking me for one, simple thing.

“Of course I will get these for you Mia, but only because you asked so nicely!” Her smile got even bigger as she realized that she had effectively gotten her point across. She jumped up and down in anticipation, carried her prize in hand, and waited patiently until we got back to the Jeep before we opened her treasured treat.

She handed me the package again, “open it mom!”, I imagined her sweet little voice saying. I opened it and gave her one of the fish, and she giggled with delight. After I filled the Jeep with fuel, we headed for home, and I heard a “HEY!” from the back seat. I looked in the rearview mirror and saw Mia’s hand waving in my direction. Yet again, I imagined her little voice “Mom, I want another one! Please!”

I know that most people don’t like that their kids ask for anything in the store, but for Mia to be that observant in this situation in which she has always had a hard time, is amazing to say the least. I’ve seen this little girl grow in development over the years, and no matter how slow or fast the growth may be, I am always astonished with each new thing that pops up!

All the little things make life sweeter! And yes, Swedish Fish do too!

Where Are We Going? Bradbury Mountain!

 

Northern Loop Trail, Bradbury Mountain

May 6, 2012

After Mia and I left L.L. Bean's, we headed out to find a trail to conquer, and to test out Mia's new pack. Where we were in Freeport, I had pre-planned that we would go to Bradbury Mountain State Park. It was only minutes away from the Flagship Store, and ended up only being about a half hour away from home! I had heard great reviews about this park, and that there were many trails to choose from. I had printed out the trail maps, and had a couple of the trails in mind for us to hike. By the way, their trail maps are great! Easy to read, easy to follow, AND gives a brief description of each trail so you know what you're getting yourself into before hand!

When we arrived at the park, we were greeted by a nice gentleman who takes admission for the park. He greeted us with positive energy and a welcoming smile. I explained that we had never been here before and I asked him what trails he thought would be best suited for kids. He mentioned the Summit Trail and the Northern Loop. These were two that I had been eyeing, but I wanted to hear it from a confirmed source.

Every State Park in Maine that we have been to always has the most pleasant people working at the admissions gate! If you've never visited a particular park before, they are always eager to answer your questions, and never make you feel hurried or like you're a bother. Maybe it's the fresh air, or maybe it's the camaraderie of fellow outdoor enthusiasts. Whatever it is, it's refreshing, and I tip my hat to whoever chooses the employees of these booths!

Anyone feel like farming?!

Mia and I headed into the park and found a place to rest the Jeep. I pulled out the West Side trail map which had the Summit and Northern Loop trails on it, and talked to Mia about them while I was trying to decide on which to take. Mia was in the back seat, bustling to get out and run around. I rolled up the windows, grabbed our packs and got out, stuffing the trail map in my pocket.

I went around to the other side of the Jeep to get Mia. I didn't put her new pack on her right away, because I had a feeling that she would have some issues adjusting to it. So, we walked towards the trail head to get a better look at the area. Mia was in a hurry to get into the woods, so stopping to look at the information board was a no go this time around! Before I knew it, Mia had picked the trail that we were to hike. She headed up the Northern Loop Trail, blazed with blue markers.

We walked a good distance in before I stopped Mia. It was time to test out her new pack. With no one around at this moment, the timing was prime. I put her pack behind her, and like she was putting on her jacket, she moved her arms so that they were going under the straps. I buckled the sternum strap and made some adjustments so that it fit her better.

And then.....the tantrum. Remember when I said that she doesn't like foreign things touching her, or things hanging off of her? Well, what I should have said was that she detests it more than going to the doctors! She tried and tried to get the pack off, hollering at me to give in to her want. I grabbed her hand and led her further down the trail. No, I wasn't being mean. But even though Mia can't talk, she is like every other kid. If she doesn't want to do something, she tantrums, and she thinks that if she continues she'll eventfully get her way. Give in, and it becomes a learned behavior. No, I was determined that Mia was going to have this skill behind her by the end of our adventure.

Sure I'll step over this, there's more mud!

She continued to make a fuss about this new piece of annoyance, until I got down to her level and smiled, taking my pack off and put it back on while saying, "Look Mia, momma has one too! Let's carry our packs together and do some hiking!" Whether it was my goofy nature as I was talking to her, or the fact that I had a pack too, she stopped crying and flashed me her room brightening smile! We were off on the trail again, with an excited Mia who was now happy to be wearing her new blue sprout pack!

We continued to hike the Northern Loop trail with ease. This trail was a mile long to the summit, and described as a gradual ascent with wide trails. And that it was. All of the trails were easily marked, and we only needed to pull out our trail map to get a general idea of how far we were from the summit. When we got to the Bluff Trail, we detoured from the Northern for a scenic look out, and a quick snack and drink of water. I attempted to get a picture of Mia and I. But as usual, she wanted to explore rather than look at the camera. I can’t say as I blamed her, the rock we were on was full of interesting features to discover! Covered in tree roots and pine needles, it was much more interesting than the camera!

First scenic view

Happy Mia o our first scenic view

Someday she'll look at the camera!

After I got done taking a gazilion pictures, and Mia had her fill of snack time, we packed up and continued on. We stayed on the Bluff trail instead of back tracking. This trail was basically like walking on a big rock, with lots of tree roots growing over it. It was relatively short, but with all of the small obstacles, it was kind of fun. Especially when Mia decided that we should run and hop over all the tree roots as we went on our way!

Enough sitting around mom, let's go!

Bluff Trail

More of the Bluff Trail

After we headed down this trail, it eventually led us back to the Northern Loop, and then on to the summit. When we reached the summit, there were quite a few people there. More than I expected actually. There were some people up there observing the osprey flying in the air, others were sitting down enjoying the view, and others were getting ready to head back down the mountain.

Mia seemed pretty impressed with herself when I told her that we made it to the end! She loved climbing around the big rock that made up the summit, and laughed at me when I tried to get her to stand still for a picture. We only stayed at the top for about fifteen minutes before she was ready to head back down the mountain. The entire way back, she ran, skipped, or kicked mud on the back of my pant legs. This made her laugh too! We stopped a few times so she could look around and take in her surroundings, and so she could climb around on various rocks and anything else  she could find.

Summit!

Okay, one picture mom!

A little bit of this puddle, and many more, ended up on the back of mom's pants! I'm just helping with her get closer to nature!

Oh yeah, did I mention that we danced too?! Like no one was looking, until I turned around and saw someone coming from the other way. And then we danced like they were looking, which didn’t change our dance at all!

Mia, let's dance!!

Big Fish and a Little Pack

Look mom, a bridge!

May 6, 2012

It’s Sunday. The Sunday before Mia had to have her sedated cat scan and renal ultrasound. Today is going to be the last sunny day that we will be able to spend outside together before the week started, so I wanted to make the most of it. We packed up our stuff and headed out!

The first stop on todays adventure was L.L. Bean because I wanted to look and see what they had for little hiking packs! I had no idea how much they cost because up until now, I have been carrying everything in mine. I thought that Mia wearing her own pack would be another good learning experience. Where Mia is very tactile, she doesn’t like anything hanging off of her or anything that feels foreign. So, a hiking pack would be perfect to teach her this new skill because of the sternum strap. When it’s buckled across her chest, she wouldn’t be able to slide the straps off of her shoulders as she’s done with ordinary backpacks. Of course, nothing of any weight would be in it, but it would get her in the habit of being ok wearing a backpack.

When we got to Bean’s, we parked quite a ways away from the store. We like long walks before and after our indoor adventures. When we got up to the big Bean boot at the entrance, Mia ran up to it and started touching it. And then proceeded to extend her arms in the direction of it’s girth, in what appeared to be a massive attempt at a Bean Boot hug (so cute)!! I tried to snap a shot of this with my camera phone, but by the time it loaded up Mia was done with the boot and ready for the next thing.

We're under!

When we walked into the store, we went by the trout pond so Mia could look down at the fish. While I was holding her from trying to get into the water (is it possible that she and any body of water are somehow magnetized to each other?), I looked around at the signage. All of the kids stuff was upstairs, so that’s where we headed! I figured we had a better chance of finding a squirt sized pack up there.

Mia loved climbing up all of the stairs while looking down at the pond and people below us! She made her happy screeches and noises as we ascended, causing some people to look up. This seemed to impress her, and I am sure that it is why her volume level increased as we neared the top! And when we got to the top, she found something that resembled her favorite piece of architecture. A bridge!!

While she was running from one side of this to the other, I scanned the area for packs. They were immediately to my right. Had they been any closer, they would have reached out and smacked me! I grabbed a navy one to try it on her to see how it fit. She actually let me put it on her! Yay! And it fit her nicely, appearing that if we got one it would fit her for a while to come.

I put it back on the rack, and proceeded to get Mia from her bridge. She walked with me around the room, sitting in a tent that was set up with chairs in it, and then went back to the bridge again. When she had her fill of this again, she brought me to where the packs were and just stood there. I asked her if she wanted one of these, and she proceeded to move my hand in the direction of a light blue pack.

OOO, look at all that water!

I picked up the pack and handed it to her, and she put her hand on it and made a noise. Yep, I was getting this pack. Much to my surprise, the price was just right! At $35.00, I couldn’t tell Mia no. We headed downstairs with Mia’s new prize in hand.

We stood in line at the register, and when it was our turn Mia went up and put her elbow up on the counter and rested her head on her shoulder. The lady running the register said hello to Mia, to which Mia made a quick glance. Of course, there were no words, so I explained our situation, and the lady was totally understanding! She said she had a nephew who also has Autism, and that she knew much about it. And, as many people tell me, she looked at me and said that Mia is very beautiful!

It’s refreshing to meet people when we are out and about who aren’t judgmental and who can see things from standpoints other than from within their own little bubble!

We then headed back by the trout pond and towards the exit. I looked over at the aquarium that they have expecting it to be overloaded with kids as it usually is. Much to my surprise, there was no one there! I brought Mia over in an attempt to get her to stand underneath the bubble. I’ve done this in the past to no avail. I always figured she’d do it on her own terms.

I scooched to the floor and grabbed her hand as I climbed underneath the tank. And another surprise, Mia followed me under! She was instantly entranced by the water above her, and then by the big fish that were in it! Until, another little boy came under, that is. He asked Mia if he could have a turn, and she graciously exited the bubble and gave him his space.

We walked through the parking lot towards the Jeep, and I was beaming with pride. Not too long ago, a trip to a busy store of any sort was not this enjoyable for Mia. Today, she has grown to love just about any situation she's in. I told her how wonderful of a job she did, and she smiled up at me in recognition of my words. We skipped through the parking lot hand in hand, giggling the rest of the way back to the Jeep!

Good lord do I love this little girl and all the joy and wonder that she brings into my life! How I got so lucky to be blessed by such an amazing person, I will never know. But I will never take any of the small things for granted! The small things after all, are what make up the memories of a lifetime!

Hey, where did those fish go?!

Mia's Imaging Results

After a couple of days, and countless phone calls, I finally got the results of Mia's Catscan and renal ultrasound.

From what her pediatrician can tell, her brain images have not changed much, if at all. This of course is a temporary sense of relief for me, as the results will also be forwarded to her neurologist who will also have a look at them. In her almost six years though, nothing with her brain images has changed, so I am hoping for more of the same this time around!

Her renal ultrasound though, did show an increase in tumors. :( The tumor type is called an angiomyolipoma (AML), and they can continue to grow in size and numbers inside of the kidneys. Usually they grow slowly, and with constant monitoring problems can be detected early. Her doctor says that at this point it looks like her kidneys are handling this increase well, but it still causes me a degree of worry.

If the tumors grow to many or too large, they can cause some serious pain and problems that could result in surgery, transplant, or dialysis. And, because of the combination of TSC and the AML's, there is a greater risk that these tumors can turn malignant. This is rare, but it is still a risk that crosses my mind.

I do have some new hope though. Earlier this year the FDA approved a drug called Afinitor to treat AML's. They found that Afinitor can reduce the size of AML's, and it was previously approved to be used as a treatment for a type of brain tumor caused by TSC called subependymal giant cell astrocytomas (SEGA's), which it also reduced in size. If these AML's can be reduced now, and potentially prohibited from growing further, it would give Mia a really good chance of not having so much of a complication later on.

We will be meeting with a Nephrologist next month, and they will be following her kidney function from here on out. I suspect that they'll request more imaging throughout the year to be able to keep a close eye. When we go, I will be asking about the use of Afinitor for the AML's.

Though I am wary of the overall outcome, I am choosing to focus mainly on the positives that can come out of this. After all, positive thoughts and vibes bring positive results. And Mia needs her mom to be strong enough to handle anything, and thinking about the negatives can only wear a person down.

Mia's Special Birthday Request

Baby Mia at two months old!

In exactly one month, Mia will be SIX years old!!! It's crazy how fast the time goes! We've never asked for anything on this special day, but this year we do have a special birthday request for anyone who is willing to lend a hand. Please head on over to our other blog, Out of the Woods Stories to find out more!

The Hospital Visit, And A Great One At That!

Mia having a good time at the doctors office with Froggy and her computer bedside!

Miss Mia did wonderfully on her visit to the hospital! She no longer starts to scream as soon as she recognizes the parking lot. She hapilly gets out of the Jeep and skips through the parking lot with me hand in hand. This time, she carried her new hiking pack with Froggy in it. Froggy makes things a bit easier for her because what ever needs to be done to Mia, gets shown to her through Froggy first. And, Froggy plays Mia's favorite tunes like the Alphabet Song, and Head, Shoulders, Knees and Toes, as well as a classical medley that she loves!

We walked into the main entrance of the hospital this time, instead of the entrance to the building that houses her pediatricians office. We were greeted with a lovely little indoor pond of sorts, with small running towers of water in them, and coins littering the bottom. A wishing well!

I grabbed a coin out of my pocket and gave it to Mia to toss in. Before I could even start the phrase, "make a wish", she had already thrown the coin into the water creating a small splash. She grabbed my hand, looking for more. I handed her another from my pocket, and told her that when we leave she could put more in.

We continued into a lovely corridor filled with big bright paintings, a cafe, and nice bright lighting. I read the directions I was sent on where to go in the hospital, when I noticed it said follow this hallway to the............elevators. Eh, I was on the look out for stairs.

When we got to the elvator area, I looked around for a door showing stair access. The harder I looked, thr more I realized that there wasn't one, at least not here. I started to walk away to look for the door, but Mia pulled my hand that she was holding in the opposite direction.

As shocking as it was to me, she actually wanted to ride in the elevator this time! For years, she has avoided these vertical moving carts like the plague. And to be honest, I was ok with it. I'm not a fan of them at all. Though I tried not to encourage her in this fear, we were always happy to take the stairs. But, she saw another little kid waiting for the doors to open, and she even went over and pushed the button to signal that we were waiting for a ride up (even though the button was already lit!). We heard the *ding* anouncing the arival of the elevator, and I swallowed the lump in my throat and followed her in.

She was smiling from ear to ear, and seemed to be pretty proud of herself for not being scared. My uncomfortableness subsided a bit as I watched her look at me with excitement, and as she jumped up and down when I told her that she was so brave!

When we got to our floor, we walked through the halls looking for the nurses station that we were to check in at. One of them showed us where our room would be, and took Mia's height and weight, checked her temperature, and attempted to listen to her heart and lungs in addition to getting her blood pressure. This is an area that I've been working on a lot with Mia. She just does not like anything foriegn touching her. She's pretty good about letting people touch her, and she doesn't shy away when someone grabs her hand. But when it comes to a stethoscope or anything of the sort, she wants nothing to do with it.

This, and when there were three doctors at once in our room, ended up being the hardest part of the trip. After they left with all of my answers to their questions, Mia calmed back down and went back to playing with Froggy and her "computer".

The nurse that was assigned to Mia was great, by the way. And because she took the time to talk to Mia and to get down to her level, Mia was instantly smitten with her, smiling at her every time she entered the room. She allowed me to give Mia the syringe full of medicine that would make her sleep for the tests, and didn't do anything without telling us first. There is something to be said for nurses here. They usually always take the time to make their patients feel comfortable and informed. Though this nurse was one of the best we've ever seen!

Wakey wakey Miss Mia!

Mia quickly drifted off into a deep sleep, and we were off for the catscan and ultrasound. My eyes got misty when I put her on the child sized stretcher. Every year that we do this, she fills these stretchers so much more than the last. Where had the time gone? I still feel like I just brought her home from the hospital and should still be comfortably holding her tiny eight pound self.

We did the catscan first as it's the loudest, thinking that if the medicine did wear off, it would be easier to get ultrasound images when she was awake. I stayed by her side, and watching her laying there under that machine brought back memories of our first few weeks together. When she was in an incubator under oxygen because she had a hole in her lung at birth. I fought back the tears again as I remembered all of these years that have passed and how much she's been through.

We then went for the renal ultrasound. I watched as the technician marked things here and there, more noticablly in the right kidney. I will never claim to be a doctor, but I've seen enough of these images (and asked more than enough questions) to know what I'm looking for. She then used the device to check her bladder and it's function, and then we were heading back to the room to await the rearival of Mia's perfect blue eyes!

It took a while for her to come out of the medication, but when she did it wasn't long before she was mostly back to her normal self. Smiling, happy, and very thirsty and hungry! She was wobbly for most of the evening afterwards, so I stayed extremely close to help her along.

When we got the discharge papers, we headed out of the hospital, and Mia hovered over the fountain before we left. She didn't care about the coins this time, she was just happy to see something familiar before she realized that we were right near the doors to head out!

We headed over to the local McDonalds so Mia could have her favorite chicken nuggets and apple slices so she could further fill that empty belly of hers! She liked being able to go out with mom, and I loved seeing my little girl happy as can be, even after an all day event that I know she hates.

Mia kicking back at McD's, about ready to hand me her empty box of nuggets in an effort to get more!

Beauty in the Burghal: Mount Apatite

I picked Mia up from Grammies house after work. It was a beautiful today, and looked like the last one before the rain moved in for a few days. So we decided to stop at Mount Apatite to take a peek around on our way home.

This trail is located on Stevens Mills Road in Auburn. Parking is at the very end of this road, just past the National Guard armory. Walking in through the gate was something of a time warp for me. There is a short walk through a lot of sand before you get to the actual trail. Amongst this sand is a bunch of military trailers to the right, and more military equipment in the gated section to the left.



Walking past these made me think back to when I was a child, and when we had lived in Germany and Texas when my father was in the Army. In Germany, it was nothing for us kids to cross through the base on our way to and from school, stopping to see dad if he was in the office, and playing amongst all of the equipment. When we lived in Texas, they used to have family days where the kids could come and take rides in the Jeeps and sit in tanks and such. This place reminded me of our Texas experience, and the sands of the desert (minus the tall trees, of course).



Once we got through the sand, we were back in typical Maine territory. The trail is wide, and allows families to walk side by side while still leaving room for other people to walk around or by us. One of the cool things about this hike is that it will lead to areas in which you can do some mineral searching. This is fun for kids especially, because they get to smash rocks open to try to find all kinds of colorful gems, and they get to take them home at the end of the trip! There is no entrance fee to the area, and all that is asked is that you carry out what you carry in (trash and all).



Because of the time constraints of supper time, and all of the other after school/work rituals, we did not make it to any of these areas. That and the fact that Mia wanted to stop every two or three minutes to take in her surroundings, which was fine with me. I often find that when I hike alone, my mind is set on getting to the end. When I hike with Mia, she reminds me to stop and take in the natural beauty around us. Making it to the summit or specific destination of the trail is just as important as taking the time to enjoy the there.



We happened upon a small ‘stream’ that crossed the path. Mia of course noticed this a good distance away, and stopped when we got there to take in the sound and the site.



We stopped a few times to look above us, at the contrasting bright blue sky against the tall dark green trees.



We stopped to look at a marsh area while we listened to some frogs making funny noises.



When we were done with our little adventure, we headed back through the parking lot of sand and to the Jeep. Mia and I had a great time exploring more of our new surroundings, and I had a great time seeing the sights from her point of view!

Fiddle Heads and Beaver Dams

This area was not as 'marshy' as it usually is this time of year. 

Mia, Eliza and I were off in search of fiddle heads. We headed to a spot that we had some success in last year. We walked out into the woods and were greeted by some extremely dry ground. The ‘crunch crunch crunch’ noise under foot was something Mia wasn’t prepared for. Sometimes, she has issues with certain noises. During the late fall season, when the leaves are extra crisp on cool mornings, Mia tries to find parts of the ground that are soft and relatively quiet to walk on. Today though, the only relief from the loud walk was only found in a few puddles here and there, and along the brook bank.

Minor relief from the crunching under foot.

Eliza had never been out looking for fiddle heads before. However, once she was shown what they look like, she was off on a mad hunt to find as many as she could. We came upon several small patches of fiddle heads here and there, but nothing like what was here last year. The lack of snow, and the quick thaw of it in combination with a relatively dry start to the spring season left this normally soggy area the driest I’ve ever seen it.

Mia taking her time walking away from one of the few soft spots.

Despite that fact, it was still fun to get out with the girls, and Mia got to experience more time in the woods off of the trail. Sometimes she gets irritated when we’re meandering  through the woods because she has some issues with proprioception. This is a basic ability that most people have that tells your body where your foot is, where your arm is, what they are doing, and how much effort and strength is being used to make them do what you want them to do. All without really having to think about it. 

Walking off the trail helps her with this. It makes her more aware of her surroundings, and helps her to pay attention to where her feet are being placed, what her head might be near, and that a tree branch could be in the way of her path.

What it that mess?

We headed towards the brook to see if we could find some more fiddle heads. There were a ton of Trilliums around the area waiting to bloom. 

As we walked up the brook, Eliza pointed out a ‘mess of wood in the water’. We walked closer to take a peak at what this mess was all about. As it would turn out, it was a small dam. She looked at me, confused. Why is this dam in the middle of the water?

Well, I told her, it was likely that a beaver built it. “But I thought beavers eat the wood?” I chuckled. I told her that they might eat some parts of the trees, like the bark, but they mostly use the wood for building a home on the water.

“Oh, like a lake house!” Yes, like a lake house. Lol. Mia found a spot on the bank of the brook to watch the water roll through the small dam while Eliza and I discussed other things about beavers, and then Mia made her usual attempt at getting into the water. I let her get as close as she could without getting too deep, as she had her rubber boots on. This made her a happy little girl!

All in all, we did manage to get a couple of small handfuls of fiddle heads, and lots of girl time and learning experiences in the woods!

It's a beaver dam!

The Terrors of TSC

Things in our corner of the woods have been crazy lately. Yes, it’s that time of year again. The time when Mia has to undergo more testing than most people will ever have to deal with in their lives. This is the year that she has to have an image of her brain done to make sure there are no tumors or additional tubers growing. In addition, she has to be imaged for tumors on her kidneys, heart, and lungs.
Her first few onslaught of imaging was hard for me. She was an infant when she had her first MRI’s and Catscans. Because she was so young, she had to be sedated for the imaging. Giving her this medicine scared the crap out of me, but it didn’t have any adverse affect on her. But when it became apparent as she got older that she would need to be sedated for nearly everything because of her delays in development, and because of how tactile she is, the thought of these medicines scared me even more.
There was just no way that I could grow accustomed to the idea of sedating her several times a year for testing. Call me crazy, but that much of that type of medicine can not be good for anyone, let alone a child. I begged and pleaded with doctors to get together at the same time to do the needed tests, so the amount of medication she received could be lessened.
Instead of making it easy, I got the usual run around about how doctors can’t go to other departments with machines that don’t belong there….blah, blah, blah.
This year though, with constant nagging, I finally convinced her doctor that it should, and COULD, be done at the same time. He has seen her multiple times now, and knows Mia has arrived as soon as she walks in the building. Yes, by her cries of despair about being at the doctors office again. (Though she is actually getting much better about it!) He has seen how hard it is for her to have even a stethoscope touch her, let alone getting her to sit still for a goopy messed ultrasound. He agreed that having everything done at the same time would not only be easier on her, but also ensures that we get good clear images of everything needed.
It took a few weeks to get everything coordinated, but it’s scheduled for tomorrow. Now, it’s my turn to prepare, to calm my nerves and my thoughts, and to get ready for a day in the hospital. I always worry about having to give her the sedation medication, and the possibilities of tumors popping up, even in between all of these tests. But when it comes time to wait for results, the worries grow fast and furiously, and I often find myself kind of in a state of despair when wondering what the outcome will be.
Mia and I are lucky so far when it comes to our lives with TSC. She has several Cortical Tubers on the surface of her brain, some small ones in her heart (which I was told would come and go and that it was nothing to worry about) and some tumors on her kidneys. I have one Cortical Tuber and tumors on my kidneys as well. Neither of us have had any other tumors pop up, and we haven’t needed any surgeries. In the way of TSC, we are healthy.
Still though, I worry. I worry because it’s difficult to know what is physically happening to a child, let alone a child, who at nearly six years old, still isn’t talking. I worry because with TSC, at any point and time a tumor can form, and can grow into a problem that requires surgery. Not because they are cancerous, but because the gene that suppresses tumor growth is defective, and that system doesn’t have the ability to tell the body to stop it. Tumors in the brain can grow so large that they can block spinal fluid flow. Tumors in the heart can cause abnormal rhythms and block blood flow. Tumors in the kidneys can grow so large that they stop the normal function causing kidney failure. And these are only some of the possible problems with TSC. (See why I worry constantly?)
But, with good monitoring, these problems can usually be stopped before they become life threatening. It’s been a struggle (to say the least) to get all of these tests lined up here in Maine. With more tests than just the ones mentioned here needed, we have literally had to travel the state for appointments. That’s one of the biggest reasons why awareness of TSC is so important. When people know about TSC, and what is required in the way of medical intervention, it can make things easier for the individual and the people that support them to get all of the services they need in one place. Let’s face it, you wouldn’t want to be going to a doctor every other week for another test, now would you?
Here’s hoping for another round of good results from this years testing, and another year of good health for my little Mia!

May Is TSC Awareness Month

Picture Courtesy of Tuberous Sclerosis (Louisiana)

Imagine being told that your child has a rare genetic condition called Tuberous Sclerosis (TSC). And then being told that it was incurable, and could cause a lifetime of physical, developmental, and neurological problems.

Then imagine what it feels like being told that you also have TSC, and that your child inherited it from you. You had lived your whole life with this condition and never knew it. This wasn't your fault. Still, you feel guilty that you passed this down to your precious little bundle of life.

This is exactly what happened to my daughter Mia and I, and I know that we are not the only ones who have lived through this scenario. At 25 years old I was diagnosed with TSC, having never even heard the term before. Mia was diagnosed at 7 months old. For the rest of our story on how we came to find we both have TSC, please click here.)

TSC is a condition that affects one of two genes. Either the TSC1 or the TSC2 genes are mutated, causing tumor growth in various parts of the body. The most commonly affected areas are the Brain, Heart, Kidneys, Lungs, Eyes, and Skin.

Some tumors can grow very large within the brain, heart, and other organs. These tumors require surgical removal. Some tumors are just there, and never grow or reduce in size.

Along with Tumor growth, a person with TSC can also develop seizures, and have cognitive developmental delays, such as Autism. There is a link between Autism and TSC, though scientists don't fully understand the relationship of the two.

Currently, there is no cure for TSC. The only assurance that a patient with TSC has is monitoring. The brain needs an image taken every two years. The heart, kidneys, lungs, etc, every year. Usually, if epilepsy is present in a patient, at least two checkups with a Neurologist are needed a year. Developmental therapies and early intervention are the only treatments for the developmental side of TSC, if they are present.

Though there is no cure now, much is being done in the way of research, and there have been some very promising results. Still, more research needs to be done to find an ultimate cure. A cure for TSC could lead to cures for disorders such as Cancer, Autism, and Epilepsy. Think of it, one cure that could possibly cure so many other devastating disorders.

Because Mia and I are both affected by TSC, and we want desperately for a cure to be found, we are participating in the TS Alliance's "Step Forward to Cure TSC Walk". If you can spare even $1.00, we would appreciate the help towards our goal of raising $1000.00. You can donate with the secure link below, and all of the donations will go directly to the TS Alliance.

Want to participate in a walk yourself? Visit the TS Alliance walk page to find a walk near you!
Our secure donation page can be found at:
http://my.e2rm.com/personalPage.aspx?registrationID=1416034#.T5b4A0Ri_-M.facebook