And no, she didn’t have a seizure.
But even still it was a good and successful trip. Which is weird considering she didn’t have a seizure…the whole point of our hospital admittance.
I’ll explain, but I think it’s good to give a quick background:
Jill is a twin, and was Baby B. While I ended up with an emergency c-section, it was Lucy (Baby A) stuck in the birth canal that was having trouble breathing and came out more gray than pink. Jill on the other hand, had apgar scores of 9/9.
But within 36 hours of birth, Jill was shivering. We (nurses included) assumed she was cold and kept layering warm blankets on her…but still shivering. She was transferred to the NICU at another hospital, and so began our whirlwind journey filled with more questions than answers.
It was clear she had severe developmental delays pretty immediately. While her twin sister rolled over and sat up and all the things babies do even in the earliest days, sweet Jill just laid there and shivered. And smiled. The best smiles.
And suddenly, without warning, she had her first seizure 2 weeks before her first birthday. We had no idea that was even a possibility. I had no experience with seizures beyond the flailing and twisting shown in movies. Her seizures were (and are) a quiet limp rag doll. Unresponsive. And long. Much much longer than anything anyone had ever experienced.
But we did and do our best. She’s never quite fit any molds. Not the standard “epilepsy” case. The tremulousness of her body and limbs not even standard of the Cerebral Palsy diagnosis she also bore. The label on her medical charts announcing brain injury due to birth trauma leaving this mama shaking her head in confusion. Sure, my birth story was dramatic, but not for Baby B way up high near my rib cage hanging out minding her own business. But what do I know? If they see brain injury, they see brain injury. Even if I have contended for five years that I don’t understand how that could have happened during labor and delivery. Perhaps it happened during the pregnancy? Doctors said it was unlikely. During the birth was when it probably happened. Okay…I didn’t go to med school. I can’t read MRIs. If you say so.
So down to UCLA we went and sat. And sat. And sat. Waiting for a seizure as we weaned her off life saving meds and sleep deprived her for 9 days. The hope was that we could capture a seizure while she was hooked up to a 24 hour video EEG so that doctors could learn more about where a seizure starts and how it spreads inside that blonde head of hers. After all, they had only seen one other epilepsy case with seizures that lasted hours each time. They needed data to even begin to figure out what the right course of action would be.
So Jill, Queen of Sheba, laid in bed and watch unlimited cartoons, as food was brought to her to eat in bed, every meal topped off with a dessert. Sometimes two. Every visitor bearing gifts of toys and always cupcakes.
I, the mama, laid on the uncomfortable sofa that was also my bed, and watched an exorbitant amount of Netflix (OMG House of Cards!!!). On the one hand, it was easier than the laundry and dishes and refereeing of squabbles back home. Except that it wasn’t Home.
As we sat and watched paint dry, her team of doctors reviewed her old files…the ones filled with information from her previous stay at UCLA. The same process and yet no seizure. Upon closer inspection of her 2.5 year old MRI did they see that the gray matter in her brain wasn’t brain injury at all…but instead brain malformation.
GAME CHANGER.
An injury is an injury. A broken arm you deal with and try to fix. But a malformation means something bigger. It means that’s just how you developed. The question now becomes WHY.
Jill’s brain shows heterotopia. The simple, layman’s explanation of that is that there are perfectly normal and fully developed brain cells…they’re just in the wrong damn place. In Jill’s case, there is a row/cluster of normal brain cells nearer the center of her brain…except that they actually belong along the outside of her brain. I learned that your brain grows outward as you develop in utero (kinda like blowing up a balloon…except totally not like that at all). So this small area that should have been pushed outward, wasn’t. Instead, it hung out in the center and more brain matter grew around it. MALFORMATION. Not injury. Oy vey.
The team is pretty confident that Jill doesn’t “just” have epilepsy. Or “just” have cerebral palsy. Instead, they believe that her seizures, developmental delays, and her tremors are part of a larger underlying condition. Like people with Down Syndrome often have heart problems…you don’t typically start off with the heart condition…it’s the Down Syndrome that in a sense caused the heart problems. The thought is that Jill has some kind of genetic or chromosomal condition…which includes a seizure disorder, global delays, and tremors.
They just don’t know which one.
The team saw that it was unlikely she was anywhere near having a seizure based on the information they were getting back from the EEG…but more importantly, they realized we were now headed on a completely different path. A host of genetic tests, chromosomal mircroarrays, and mitochondrial panels were ordered. They said that the few disorders/conditions they could think of weren’t quite right for her, so it would be up to the testing to come back. Jill’s entire condition could be a result of something passed down from either me or Andy (or both?), or it could have been a chance thing that just happened as she formed in my tummy. It could be in her genes, or even in her very DNA.
It could be that she’s the first ever.
But the fact that this is not a brain injury at all changes the entire way we look at things and how we approach her care.
Why does it matter? Is this a good thing? A bad thing?
It could be a nothing. It could change nothing in how we do things…we just continue trying to manage her seizures and give her the therapies she needs to adapt and succeed. It would just have a name.
It could be a good thing in that if others have walked this path before us, they could give us the case studies to know how to best help her. Rather than grasping at straws, we would have others to work from.
It could be something that affects her siblings and their future children. Something they will have to discuss with future spouses. That’s probably the hardest part to think about. So I won’t for now. For now I will ignore that elephant in the room and pretend I don’t see it. For now.
Our path will now likely include geneticists, testing, and more testing. In the meantime, we will continue to manage her seizures the best we can and continue with therapies. We will cross any bridges of change as we come to them.
So for that seizure we never captured? Of course they would still have loved to capture one. The more information, the better. Always. But the consensus was that we have bigger questions to answer. And if THOSE questions are answered….it could unlock many more answers for her and us. Including the best management of her seizures.
I’m cautiously excited. Excited for answers…but cautious because I know that sometimes answers aren’t always good ones. Sometimes answers are downright awful.
So that’s where we’re at. The genetic and DNA panels won’t be back from the lab for a couple of months. So for now we wait. And watch more paint dry.
At home.
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I have been reading your blog for a long time now. I have never commented before. I love reading about your family. I am really praying for you and hoping that there are answers. Praying for the best.
Wow, what a huge twist! (I never knew Jill was a twin.) I’m glad that the hospitalization was fruitful in pointing you in the right direction to find some answers. Prayers that you will find them, and that they will be workable.
Wow, this is indeed a game changer. I will continue to pray as you seek answers and the best ways to keep Jill whole and healthy. God bless you on this journey!!! Thank you for keeping us in the loop, and thank you, Miss Jilly for being so inspirational and courageous.
You have a beautiful and brave little (and you mama are beautiful and brave as well) and my mama heart keeps your family in my prayers.
Wow wow! That’s so much to digest. But at least more answers and hopefully a better way to guide her treatment.
I promise next time you’re down here, I’ll be the one bringing you cupcakes. I missed you by a day!
I’ve been praying for you guys & trying to follow your story! I will continue to pray for some answers for you guys!! Thanks for sharing with us!
WOW!!!! I can’t even how much you are processing right now. But I can’t help but feel that you weren’t supposed to know this until now…can’t wait til God reveals why. So glad the stay was shorter and yielded a major knowledge bomb that will help Miss Jilly!!! <3 and prayers to you as ALWAYS.
wow – lots of info for you to absorb
Praying for your family and the medical team working out the best way forward.
Thanks for the update,
Love and best wishes from N Ireland
wow! What a huge twist!! Praying for peace, patience and future answers. Hugs to you all!
Many, many prayers for peace for you and your family Janele!
quite the twist and a mixed bag – but trusting and knowing God is good always no matter what – right!? Praying for clarity in the results and a clear answer for what’s next!
Sending you a hug friend – glad you are home!
xo
My daughter is one. The ONLY one with her particular thing. She gets it from me. I was 35 and had three kids before they told me I shouldn’t have kids. Great. But if you told me I could change it all to make her “normal”, I am not sure I would. I love her to the moon for exactly how she is and who she is. My normal is not. But I love my normal. The very, very best to you…”And God looked at all He had made, and indeed it was very good.” Genesis 1:31.
Big hugs mama. You did good, I know this wasn’t easy. Here is to hoping for answers to questions and keys to unlock doors. Thinking of you guys.
As a medical student (almost doctor – three more months!) I can read between the lines, and I think you are so very brave for the way you are dealing with this! I have been praying for Miss Jilly since she was admitted this time and I will continue to do so. God is good. Always. No matter what. I’m so thankful that you and Jilly taught me that.
Well. Those were not the answers we thought we wanted, but we prayed for the answers that were needed to help Jillybug.
Sounds like we got’em.
Waiting us gonna stink..but we’ll be hanging out here with you gyys praying… Always praying.
Big hugs, mama.
Well. Those were not the answers we thought we wanted, but we prayed for the answers that were needed to help Jillybug.
Sounds like we got’em.
Waiting is gonna stink..but we’ll be hanging out here with you gyys praying… Always praying.
Big hugs, mama.
Well. Those were not the answers we thought we wanted, but we prayed for the answers that were needed to help Jillybug.
Sounds like we got’em.
Waiting is gonna stink..but we’ll be hanging out here with you guys praying… Always praying.
Big hugs, mama.
WOW. Praise God for initial answers. I’m so glad it sounds like you guys and the medical team are on the way to finding information to better care for Jill. I’m just in awe of how God clearly answered so many people’s prayers for you guys, and so grateful that the doctors discovered that.
So glad you got some answers and will pray for more answers and how to treat Jilly. And SPRINKLES!!!!
I am so encouraged by you and wish we were friends in real life! I am a fellow special needs mommy. My daughter, almost 3, has a rare genetic condition called Cohen Syndrome. While we have no experience with seizures, I will say we have been there in terms of the developmental delays and never-ending genetic testing to search for an answer. But we found the answer for all of her issues! We received the genetic results at age 18 months (we knew she was not a typically developing child as early as 4 months). It was hard to digest for sure, but also such a blessing to just know the cause and put a name to all of her struggles. I will be praying for you guys for sure. You are such an inspiration to me as a mommy in general, but especially in the area of special needs. :)
hi, I have followed your blog for some time now . My granddaughter has sub cortical band Heterotopia . She is three and has many of the same symptoms as Jill. I live very near you in Atascadero. You may email me if you like. I have done a lot of research on brain Heterotopia and I can also point you to some groups for support .
wow. WOW. So many of us prayed you would get answers there, but no one expected this answer! So much to process. You are an incredible mama. Will continue to pray as you move forward with all of this new information. XOXO
Wow, big news. I hope it ends up being helpful information for Jill and your family.
Praying for you. Jilly is right where God wants her to be. You are the best mama. Although different situations, I went through a time in the hospital (when our son was 9) that left us with many unanswered questions, too, so I can relate to that feeling. Continuing to pray for you. Thankful for the doctors’ wisdom…got to be a slew of answered prayers here since so many were being lifted up for you guys. Thanks for sharing your story.
I’m a mother of three beautiful boys. Due to complications at birth my middle son has a mild form of cerebral palsey and has occasional seizures. I came across your blog about a month ago and as a mother your daughter’s situation breaks my heart.
The longest my son has seized was about 40 min and that was the longest 40 min of my life. I cannot imagine what you go thru every time she seizes. Thank the Lord for His peace. I am praying for you and your family
I keep you and Jilly in my heart and prayers. My daughter is 42 with lots of problems. I know how a mother’s heart can feel.
My sweet former neighbor,
I’m so sorry about all that’s going on with Jilly. I hope the doctors will come up with some answers for you soon. I think about you guys often, and wonder how you’re all doing. I miss the sounds of your beautiful babies laughing next door.
Xo, L.