EEG results and updates

From December 2012

December is always a crazy month filled with rushing to and from so many different places....last minute shopping, Christmas parties, getting an extra strand of lights for the tree... This year though, its been much crazier. In addition to all the festive engagements we've been literally running from doctor to doctor. Hospital to home and then back to the doctor. Oh and therapy and then some more therapy. We were trying to get everything done before the new year began (ie...extra MRI and EEG) in hope that perhaps our medical expenses wouldn't put us out of house and home again for 2013. =) Gotta take advantage of meeting that deductible! Anyway, our EEG came back showing no seizure activity! Hallelujah! Our current neurologist in San Antonio said that the EEG showed "abnormalities consistant with seizures." In other words I believe he meant that it showed abnormal brain activity that would be expected of someone with Subcortical Bandlike Heterotopia. He also said that he was surprised that he didn't see more abnormalities and that he saw some "normal" sleep cycles. This is really important because it means Lily Kate is getting into her Deep REM sleep where her brain can grow and develop.

On Monday, December 17, 2012 Lily Kate got another MRI. This was the MRI we have been praying would come back miraculously clear since we found out about her diagnosis. There was not a complete 100% healing like we'd hoped according to the MRI. It still showed the SBH but even now hope is not lost. You see, my little Lily Kate is doing amazing. Just recently she had her Physical Therapy Evaluation. The evaluation showed that she was only a couple of months behind. Her Occupational Thereapy evaluation showed she was about 3-4 months behind. This is a huge improvement from her initial evaluation which showed that she was 4-6 months behind! Last week she mastered ALL of her transitions...laying down to sitting, sitting to quadruped, and back down to the floor. I put her down for a nap the other day, walked out of the room, heard some crying, looked at the monitor and the girl was SITTING UP! I ran back into the room in SHOCK and found myself in even more shock as I saw her trying to pull up to standing on the crib rail. She's got a fierce determination like her mama. =) So maybe our miracle isn't going to be seen medically. Maybe its just going to be seen by looking at her and wondering how in the world she's doing so well in the midst of her circumstances. You go LK!

See Lily Kate in action below. This is one of the first times she sat up. She's much better at it now.



In other news we FINALLY got an appointment to see the DCX mutation/Subcortical Band Heterotopia expert in Seattle, WA on February 11, 2013. Dr. Bill Dobyns is the guy everyone goes to that has a similar diagnosis to Lily Kate. So far there have only been 110 cases in the world. But they've all gone to him. So we are too in hopes of a more definitive diagnosis and prognosis. Please pray for us as we approach this appointment. We have heard that the inforamtion given is simply just that....information...little to no empathy. So please pray for our minds and hearts to be prepared to hear the precise information. Please also pray for the information to be positive. Maybe something like "Well this is the mildest or one of the mildest cases I've seen of SBH." Please Lord let it be true! Still trusting HIM. Love, Theresa

Lily Kate's 24 hour EEG and updates

So 2 weeks ago Lily Kate had a 24 hour EEG. An EEG is when they hook up a million wires to your head to determine if there is seizure activity during an allotted time period. Since she had 1 seizure I requested to get a 24 hour EEG just to make sure she wasn't having them during her sleep. Lily Kate did fine although she was pretty uncomfortable. They also had a video on her the entire time so they could see what she did if she were to have a seizure. See pics below.

We won't get the results back until December 17. Lily Kate also has another brain MRI on that day. We are getting it done now so that we can send it off to the specialist (Dr. Bill Dobyns) in Seattle for our upcoming appointment. Dr. Bill Dobyns discovered this particular brain malformation and link to the DCX gene. We have waited for months to get to see him and we finally got an appointment for February 11. So we will be traveling to Seattle to find out more about her diagnosis. He will be able to give us more information about her exact diagnosis and prognosis. We've heard he is very "by the book without much empathy." So please pray for us as we approach that appointment. We are asking the Lord to prepare our minds and hearts and also to completely change her brain scan to show a brain way more developed and even healed if the Lord so chooses. Trusting HIM. Love, Theresa

Some of you visiting this site know about the journey we began on May 21, 2012, but others are unaware of how our lives were literally turned upside down that day. Where do I begin? How about January 4, 2012... What a crazy day it was! My beautiful daughter was unexpectedly born 4 weeks early. So not like her mother who is usually fashionably late! Lily Kate was in the NICU for a week and sent home with an apnea monitor. Every now and then she would stop breathing and her heart rate would drop, but no one had any explanation except for her prematurity. Six weeks after we were home we got rid of the monitor and went about our happy lives with our new daughter. Around that time we found out that we were moving to San Antonio! A dream come true to be back in God's country near my family! Shortly after we moved we had Lily Kate's 4 month check up where I brought some concerns of mine to our doctor. My main concern and really only concern was that she wasn't making great eye contact like I'd seen other babies her age make. So just to be safe she ordered a head ultrasound through Lily Kate's soft spot. We were sort of shocked that they wanted to look at her brain this way but went along for the ride. The head ultrasound came back "abnormal". That's all we were told. I remember being really scared and wondered what in the world that could mean. I mean I had such a healthy pregnancy and there were zero suspicions of ANYTHING. So the pediatrician led us to believe that she might be suffering from "water on the brain." We were really scared now... Little did we know that this fear was nothing compared to what we were about to face. So after the abnormal head ultrasound we were ordered to get a brain MRI on May 18, 2012. Lily Kate was sedated and put in the MRI machine for an hour to get a full scan of her brain with and without contrast. I remember that day well. She was not happy about getting stuck multiple times because the nurses couldn't find a vein for the sedation medicine. Nor was she happy about not eating for several hours. And as for me... well I was a nervous wreck. There's nothing like seeing your 5 month old in this huge machine wondering how in the world we were sentenced to sit and observe this. Casey held my hand and prayed with me throughout the test. It seemed to last forever... But nothing lasted as long as the weekend ahead where we would wait for the results that changed out lives forever... Monday May 21, 2012 at 4:30pm I anxiously waited in her pediatrician's office to hear if Lily Kate had "water on the brain". Around 5pm Lily Kate and I were called into the room to get the MRI report. I called Casey, who was at work, and put him on speaker phone so he could hear everything. The doctor spoke and we found out that my precious daughter didn't have Hydrocephalus or "water on the brain"... Instead it was something much different. I'll never forget her words to me... "Theresa, Lily Kate's brain is not growing normally." I froze. I felt nothing, could hear nothing, time stood still. I finally opened my mouth and said "what? I don't understand?" I looked at my daughter in disbelief. What do you mean my daughter's brain isn't growing normally? She went on to explain the best she could with the limited information she had about one of the rarest brain malformations in the world that my daughter suffered from. We learned that day that she had a form of Lissencephaly. Her MRI showed that she had "Subcortical Bandlike Heterotopia" and Colpocephaly. We learned that the outcome could range anywhere from Normal to severe mental retardation. And that there was no way to predict the outcome but that she was at risk for intellectual and motor delays and seizures. Lily Kate's blood was drawn that day so that they could send it off for a genetic test to determine if she had a specific gene mutation that was commonly linked to this diagnosis. The news just kept coming and I just kept thinking I was in a bad dream. That I would wake up and it would all go away. But it didn't go away that day. And it hasn't gone away. But it has gotten easier in some ways. In other ways its gotten harder. We found out later that Lily Kate did have a "mutation of unknown significance" in her DCX gene that caused her brain to grow this way. We also found out that I wasn't a carrier of this gene and that it was just a freak thing that happened when I was pregnant with her. She had her first and only seizure just a few weeks ago (the 2nd worst day of my life) on November 9, 2012. She is on seizure medication and hasn't had another one since then. Praise be to Jesus! My big question for each doctor we've seen since that day we found out has been "What can i do for her to make her have the best possible life that Lily Kate can have?" And the one thing everyone keeps saying is THERAPY THERAPY THERAPY! So we go to therapy....ALOT. 3 days a week we are in Physical Therapy, Occupational Therapy and Speech Therapy. And the other 4 days of the week I am her therapist. My goal is to eventually teach her to do a perfect Tendu, but until then we are working on the basics....sitting, transitioning from sitting to quadruped, rocking on all fours, handling things with her hands, feeding properly, saying "ma ma" (which she is really good at!), and all the other things an 11 month old is supposed to be doing. But let me tell you how far this little one has come... She has gone from not reaching for anything to getting into everything she can reach. She has gone from having to sit in a very supportive baby chair to sitting independently. She is almost crawling.... oh she is so close. She is determined to get it and do it. She is hilarious! Her sounds and laughs are music to my ears. She reaches for her mama and really acts like any 11 month old with some developmental delays. But she is my joy! Even when I'm feeling so down and scared and confused as to why all this is happening, I look at Lily Kate and know she has a purpose. That God is in this 100%. That he knows each tear I've cried and each struggle Lily Kate has faced and will face. And He helps her and me. I have learned more and more that my Savior is Sovereign and good regardless of the trials I face on a daily basis. That He has the last word and the last miracle. I know that my Lily Kate will be a miracle. So I am not giving up hope. I still have dreams for her. "For I know the plans I have for you, declares the Lord. Plans to prosper you and give you a HOPE and a FUTURE." -Jeremiah 29:11 "Therefore we do not lose heart. Though outwardly we are wasting away, yet inwardly we are being renewed day by day. For our light and momentary troubles are achieving for us an eternal glory that far outweighs them all. So we fix our eyes not on what is seen, but on what is unseen, since what is seen is temporary, but what is unseen is eternal." -2 Corinthians 4:16-18 Thanks for reading about Lily Kate's journey. Please stay tuned for more updates! Love, Theresa