Sunday, March 25, 2012

A Good Cocktail...

Danielle had another EEG the week before last.  This experience was much better than our first EEG.  It wasn't long after the electrodes were placed that Danielle was calm in her bed.  My focus shifted to the monitor that was recording the study.  The horizontal lines skipping across the monitor looked chaotic and messy, much like it did during her first EEG.  What does a normal brain wave study look like, I wondered.  I spent an hour... okay, maybe two, on a very slow Internet connection googling "normal EEG," "abnormal brain activity," "EEG, Infantile Spasms."  Finally, I decided I was torturing myself trying to analyze what I was seeing and I covered the monitor with a blanket.  Out of sight, out of mind... right?  Not really.  I have been wrecked with worry about Infantile Spasms, and this day that she was scheduled for her EEG was an exceptionally bad day for her.  She spit up shortly after she took her medication on that morning.  She had a cluster of spasms early in the afternoon, and another in the evening, which was recorded on the study.  Both episodes were severe compared to what we had been seeing in the past few weeks.  This was a bad day for her to have an EEG.  I thought for sure the doctor would give me bad news that she didn't see any improvement.  But what if it was because she spit up her medicine?  Should we switch to another medication?  Should we wait until they can get her on the schedule for another EEG?  Infantile Spasms is not something you want to waste any time treating.  She received her 8pm dose of Topamax and she did not have any episodes during the night.  I didn't think about looking at the monitor after her medication that night.  I was too busy trying to soothe Danielle.  She was extremely fussy.  The electrodes are very uncomfortable, especially trying to sleep with.  We spent most of the night in the hospital chair, hushing, rocking, nursing, repeat.

I saw Danielle's neurologist last week on Tuesday, expecting to hear the results.  I was upset when I learned that she didn't yet have a copy of the study, even though I had made sure to notify the hospital that Dr.O needed to have it before our appointment.  I had seen two neurologists in the hospital when Danielle was diagnosed, and I saw them both again at their office for a follow up before I decided who we wanted to stay with.  The EEG was done at Children's, but the awesome doctor I had decided would follow Danielle is in the INOVA group.  I wasn't expecting that it would be such a problem to get a copy of the study.  Dr.O had her nurses working on getting a copy of it, and anyone who knows me well is certain that I too, was taking action, with hard-driving ambition.  Well it turns out that the doctor I chose, a woman, is a firecracker too.  After getting on the phone with someone in management at the hospital and deciding they weren't moving fast enough, she decided to take action.  She drove in to the city after her day should have been over, marched in to the neuro-sciences department and insisted that she view Danielle's EEG.  I love her.  I love her for caring enough about my baby to take her personal time, and endure city traffic to provide her patient with the care she deserves.  I love her even more after hearing her on the phone say that Danielle's EEG looks "beautiful."  Beautiful!!  It looks beautiful!!  I wasn't expecting good news.  It was such a relief to hear.

Danielle isn't completely seizure free yet.  Her EEG did show "bursts of abnormal activity."  The Topamax is working but it might need some help to get the job done.  She'll be in the clear (from a cardiac stand-point) to use steroids in about two weeks.  If she's not yet completely seizure free at that time, the doctor will add a small dose of Pregnisone to her treatment.  Her doctor is confident that this will be effective.  Apparently Topamax and Pregnisone make a good "cocktail."

I've had some people ask me what it looks like when Danielle has an episode.  For most of us, when we hear seizure, we think convulsions.  Infantile Spasms can be easy to miss and sometimes go undiagnosed for some time.
Notice she is turning her head from side to side.  She is difficult to engage.  Her arms go up and legs come toward her body.  Her face makes a startled-like expression.  Spasms at 0:1, 0:12 and 0:28.

Thursday, March 22, 2012

World Down Syndrome Day

I haven't thought much about Down Syndrome lately. With everything that Danielle has going on right now, Down Syndrome has faded quietly in to the background of our lives. When I look at her I don't see chromosomes. I see a sweet blue-eyed baby girl with soft milky skin. I see pretty heart shaped lips just like her momma, and a little button nose that accurately mimics the rest of the Alfonso children. She sucks her thumb, puts anything else she can manage in to her mouth, makes complete facials out of her avocado at breakfast, and is full of smiles and coos. I imagine her learning to crawl, motivated by the toys that she'll want to steal from her siblings, and to run after them in a game of tag. I'm sure she'll join with them in the bickering and whining eventually too, but every day will end with us cuddled up as a family reading a story together. She'll try her arm at softball and her legs at soccer, and maybe join the local girl scout troop. We'll have fun baking together and I'll teach her how to prepare a meal. She'll have chores, and hopefully an allowance if she's a good girl. She'll have time-out or lose a privilege if she's not. She'll grow in to a teenage girl (faster than we can blink an eye I've heard), who has her very own, VERY specific, idea of how she wants to dress. One day she will be ready to leave the arms of her mother and go out in to the world, become involved in her community, get a job.

Yesterday was World Down Syndrome Day. March 21st. The date 3/21 signifies 3 copies of the 21st chromosome, clever huh :-). This is a day to celebrate the people in our lives who have Down Syndrome, and to recognize their abilities and achievements. It was a day for me to recognize and be thankful for so many people who have helped to pave a path for people with Down Syndrome, for my daughter.  People who have worked hard to promote inclusion, acceptance and understanding.

I spent the morning reading stories from moms, dads and other family members who share their lives with a person who has Down Syndrome. I was inspired reading their stories. Stories that not long ago may have seemed foreign are now so very close to my heart. You can read them too, there's a link up at Megan's blog, I promise you will be moved.

One of my thoughts shortly after Danielle was born was that she was here for ME. My faith had been renewed. She saved me. I realize now that maybe it was a selfish thought. I know Danielle will touch more lives than just mine. She will live her life serving God's purpose. Diversity is so beautiful and she will enrich the world just like so many others who share a similar genetic make-up.