A New Diagnosis: Syntelencephaly

Tuesday, January 5, 2016

The events leading up to Em's MRI last week had spanned over the course of several months. When we met with our new neurosurgeon here in Atlanta back in March, he said that he wanted an MRI when Em was 15 months so that he could compare her brain scans from birth to see if her condition was, "stable". We were originally supposed to have that MRI done back in November, but the day we were supposed to do it, we were in Idaho for Derek's sister's wedding, and so we wound up having to move it out until after the New Year. A couple weeks ago we learned that we were one dollar away from paying our out of pocket maximum for medical expenses for the year and so we decided it was best to cram the MRI in before the New Year so that we would only have to pay one dollar, instead of one thousand. 


We were able to schedule the MRI for the 29th, and there was only one week from the day I scheduled it, until the day it was actually happening. It was during that week that all the feelings about everything actually hit me. I was scared because the nurse in charge of the sedation for pediatric MRIs had called me to go over the risks for having the procedure done, and as you can imagine, death was one of the risks. It was so nerve racking to think we could have come this far with Em and her health to have it all go downhill after just one MRI. 

There were basically four outcomes that could have come from the MRI. One being we do the test, and she died. Two, we do the scan and her brain still looked exactly the same. This wasn't a terrible option, but I knew if this was the outcome it was going to feel like having to grieve her original diagnosis all over again, and I knew I would be in a state of depression for at least a week. Three, her condition worsened and she was going to need brain surgery of some sort. The fourth and final option was that it was a miracle, her brain was fixed, and none of this ever happened. 



There was one other option that I was deeply, deeply hoping for. It's one of those things where you want it so badly, but you don't dare actually pray for it because it sounds so selfish, but you secretly really, really want it. There is a fourth version of holoprosencephaly that is pretty rare, and there isn't a lot of information on it. It's called the middle inter-hemispheric variant, or MIVH. This is basically the best of the best... if your child is going to have holoprosencephaly, you're going to want your kid to have this one basically. It means that your child's brain is completely divided into two hemispheres except for the very, very front of the frontal cortex. Everything on the holoprosencephaly spectrum is so much less for these kids, and I wanted so badly for this to be where Em wound up. Again, I know that sounds selfish considering how much we've already been given, but it is what it is.

Today was the day we went in to talk to the neurosurgeon about the MRI results. (Yes we had to wait an entire week, and it surprisingly wasn't that bad). The neurosurgeon wanted to go over which milestones Em had hit at this point. I explained to him that she still wasn't sitting, crawling, or walking, but she can roll and, when we chase her and say, "I'm gonna get you!" she understands and rolls away from us across the room. She can push herself a little bit in her wheelchair. She can wave hi and bye. She can say mama and dada. She can pincer grasp and can feed herself, and is even starting to spoon feed herself. 



The doctor was really impressed with her progress and assured us that we're doing all the right things for her. He told us that on his end, there is nothing to do for her at a neuro-surgical standpoint. Her ventricles that had seemed enlarged during my pregnancy are measuring just fine, there is no excess water, and there is no surgery to correct holoprosencephaly, so we're in the clear. He said that he was going to refer us out to a neurologist, and that we'd see them in six months, and then once a year after that. 

He was about to leave the room and then I asked, "Oh, and does she still have lobar holoprosencephaly? Is that still the one we're going with?" He then came back in and sat down and said, "Yes, it's lobar, but it's actually a type called, 'syntelencephaly', it's really rare. I'll write it down for you so you can go home and learn more about it," I jokingly replied with, "Well if we were going to have a rare brain malformation, we did want to go with the rarest one possible..." He laughed, handed me the paper, and was on his way. 


I got in the car and called Derek and explained to him the good news of not needing any surgery and that we were just being referred out to neurology. I then told him about the new rare diagnosis name and that we could have fun reading all about that on the internet tonight. 

I then continued my drive to pick Jay up from his friend's house but I couldn't take it anymore and I googled, "syntelencephaly" at a red light. Turns out that syntelencephaly is another term for middle inter-hemispheric variant. I immediately called Derek back and screamed into the phone, "We hit the jackpot! We won the holoprosencephaly jackpot! Syntelencephaly is the same thing as MIVH which means Em has the mildest form of what she can have!" 

We had the missionaries over for dinner tonight and they asked us what our favorite scriptures were. I responded that mine was Alma 36:3 from the Book of Mormon: "And now, O my son Helaman, behold, thou art in thy youth, and therefore, I beseech of thee that thou wilt hear my words and learn of me; for I do know that whosoever shall put their trust in God shall be supported in their trials, and their troubles, and their afflictions, and shall be lifted up at the last day."


There really are no words. It's amazing to see where we started in all of this and then to see where we are now. We were given the worst possible outcomes during my pregnancy, and now we're standing here with the best case scenario for the given situation. We feel so incredibly blessed for the miracles that we've seen. That's what all of this is. It's one ginormous miracle spread out over the course of two years. It's hard to understand why we've been given so much, and then there are other people who don't get their miracles. That is what truly hurts the most. We're so grateful, and have been so humbled by all that we have been given. 

We know that this doesn't really change anything. We still have a long road of physical therapy and doctor appointments ahead of us. This is something that we're going to be working through for the rest of our lives, but tonight, we're happy, and we're celebrating. Thank you for the prayers and encouragement through all of this. Having so many loving people supporting us through our journey the last two years has been amazing. We love you all. 
Yum

11 comments:

  1. You're an amazing Momma and you have an amazing little girl! I am so happy for you to have this tender mercy + miracle!

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  2. So happy for your new diagnosis for Em! Here is to all the best possibilities and milestones your sweet girl will reach in 2016...Em is a little slice of heaven! Blessings for your entire family! Susan:)

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  3. You continue to amaze me! I'm so happy you got the results you were hoping for! Em is such a rock star! :) This definitely deserves a night of celebrating!

    http://elementsofellis.com/

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  4. Such happy news! Praying for your precious little family!

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  5. Congrats. Your blog is beautiful.

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  6. cute pics! love them!

    http://www.alovelystyle.com/?p=4682

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  7. I am so, so glad you got the best news possible (given the situation)!

    xx Kelly
    Sparkles and Shoes

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  8. Hi, just found your blog. My name is lacey and I have a 15 month old with syntelencephaly, and he is a twin. I wold love to connect with you. Morrislacey@hotmail.com ☺

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  9. Hi, just found your blog. My name is lacey and I have a 15 month old with syntelencephaly, and he is a twin. I wold love to connect with you. Morrislacey@hotmail.com ☺

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  10. I just found your blog and I love your positivity. Thank you so much for sharing! Your family is adorable and your strength is inspiring.

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