And So Our Trail Began

The year of 2006 was an exciting, joyous, eventful, and scary year.

I celebrated the birth of my wonderful little girl, Amelia (whom I lovingly refer to as Mia). (Exhilarating!)

She spent the first three weeks of her life in the hospital because of a hole in her lung. Needless to say, I was scared to death.

When she was finally able to come home, we started our very first outdoors experiences together, hiking! It was early summer, the air was warm, the breeze was still cool, and she fit perfectly in the sling held tight to my chest. We hiked many trails together, and I cherished these moments of smallness, knowing that someday I would want them back again.

In amongst our ventures outdoors, we had the normal check ups with Mia's doctor. At first, she told me that Mia's head was rather large. That it was probably nothing, but it would be monitored. We went back for more visits, and she noted that everything seemed fine.

And then, out of no where, at her six month check up I was told that her head was still too large, and that a CatScan would be ordered to make sure there was no cause.

When the results were in, they had seen no reason for her head to be large at all. She was just a big headed little girl. What they did find however, took the wind right out of me.

Cortical Tubers. Spots on the surface of the brain that appeared to glow white on the CT image. An MRI was done to confirm, and with that, Mia was diagnosed with Tuberous Sclerosis (TSC). Her doctor didn't know much about it at all. When I asked for information, she said I'd be able to find it all on the Internet. I left the office armed with only a double sided sheet of information that had been copied from a book.
 (Warning for parents........DO NOT research health conditions on the world wide web!!! What you will likely find is all of the negative that comes with anything. If your doctor doesn't know where you should turn for info, you should probably call another doctors office in search of information, AND a new doctor!!!)

What my research led me to for information was this. Tuberous Sclerosis is a gentic condition that can cause tumors to grow in various organs in the body. The most commonly affected organs are the brain, heart, eyes, kidneys, lungs, and skin, though other involvment is being noted in several people. Most all of the tumors that grow are non cancerous, but some grow so rapidly and so large that they require surgery for removal. TSC can also cause Epilepsy and global developmental delays (presenting as Autism). For more about TSC please visit the TSAlliace website. http://www.tsalliance.org/

I was shocked, and the news had hit me hard. What hit me even harder was the fact that I have it too, and no one ever knew that these funny white spots on my skin, and the dinosaur foot shaped red mark on my forehead, were clear signs of it. I am very mildly affected, so until Mia was diagnosed, no one in my family had even heard of this. TSC is now estimated at affecting 1 in 6000 births a year. Nearing the brink of 30, I can only imagine how few and far between this disorder was at that point. Diagnosis has increased within the last 20-30 years. I should consider myself lucky that Mia has this diagnosis so that the monitoring can be done to better help her along. Still though, I feel guilty.

She went through a bunch of image testing to confirm, and I did as well. This is something that will last for the rest of our lives.

At about this same time, she started having what is called Infantile Spasms. Clusters of small seizures that affected her after she woke up from a nights rest. These were scary. I cringed at the thought that she would have them the next morning when she woke up. I hated that she hadn't even reached her one year mark yet, and she'd had to deal with more already then most people in their entire lives would ever. These passed by the time she turned two, though I knew that this was likely a precursor for Epilepsy.

At just under a year old, I started noticing some things that I had hoped she wouldn't have to deal with. My daughter, with her bright blue eyes, and her contagious laugh and smile, was retreating into her own world. Within a couple weeks time, she made no more eye contact. She laughed only when she was tickled. All of her baby babble had stopped. She was just as happy as ever to lay on her back and watch the ceiling fan twirl around and around.

She was showing huge signs of Autism. I asked her doctor several times, to no avail. We switched doctors, and I felt a sense of relief as he not only knew what TSC was, but agreed that she may have Autism. He agreed to various tests that I had been concerned about, and we were finally headed in the right direction.

He referred us to a neurologist, who, within ten minutes of meeting Mia, calmly, and patiently asked me if I was aware that she was showing some obvious signs of Autism. I hollered out (accidentally) in agreement. (Take that, I silently stated to her previous doctor!)

He ordered and EEG (brain wave reading) to see if she had brain waves similar to that of someone with epilepsy. And, as I figured because of the Infantile Spasms, hers were. She now had a 50/50 chance of having seizures.

We went through more imaging, eye doctors, cardiologist, genetics, dentist visits. We've seen more doctors in the last 5 1/2 years than most people can even think of.

The almost inevitable seizures started later on down the road. Medication helped for a while, and then a few more types started showing through. I know most people think of your typical convulsing seizure when they hear the word. But, there are actually several different types, and if I hadn't done the research in the beginning, I would have never known. Simple partial, absence, complex partial, atonic, partial. She had one seizure in particular that was difficult to get under control. I looked like an atonic, she would just suddenly drop to the ground, losing control of the right side of her body. It almost resembled a stroke. I am happy to say, that she is now on medications that have stopped all of her seizures!!!!

Mia has been in Developmental Therapy for almost three years now. I am elated to say that it has helped her tremendously! She has gone from the girl who seemingly never knew that anyone was around her, to the girl who is starved for her loved ones attention! She smiles in adoration of those she loves, she attempts to play with kids her age (though she's still a little timid because her idea of play is still a bit different from most). She is still non verbal, but she has learned multiple ways to get her point across. She is using PECS for her desired snacks, drinks, etc. And she is becoming more vocal in other areas, such as shouting 'EH!' to get someones attention.

Yes, the past five years have been tough for both of us. But we have learned a lot together. She has taught me patience, unconditional love, that I am stronger than I once thought, and that diligence will get one through anything. I have shown her that, no matter hurdles she faces, I will be there with her every step of the way. I smile with her through all of the things that she hates doing, namely visiting doctors, even when she's having the most difficult time. And, most importantly, that no matter what happens, or what path her life takes, I will love her just the same, always.

We are bonded together in more ways than one, and I can't imagine my life without my little adventurer. She is truly a blessing in my world, a saving grace, a guiding star.