Thursday, August 16, 2018

One in a Billion

Thursday morning.

My house feels empty.

Elijah left for college yesterday.

Rob and Aaron are in Philly this morning. 

Aaron has surgery today on his thumb, and I'm sitting here in my little house on the hill feeling sorrow that I am not there with him. It is the first time one of my children has had surgery and I have not been by their side.

Little girl is in school. Just for the morning. We are starting slow. The last week has been a roller coaster of seizures. She had a peaceful night last night. The first in a very long time. We changed some meds around in hopes that it will give her relief. 

She's one in a billion. Mary. We found this out on Tuesday. 

We already knew this before Tuesday. Her seizures are so unique that it is rare that we can find anyone with similar seizures, despite spending tons of hours watching youtube videos, asking in epilepsy groups and researching everywhere we can. We don't even have a good name to describe them. They are a little bit of this and a little bit of that.

We knew she was unique but on Tuesday we found out just how unique she is. Her genetics testing came back. Her results are so unique that there are literally only two tiny articles on-line listing four people in the world who have ever had those results and only two of them have symptoms similar to Mary. Her results are so unique that her doctor found the same two results that we did and had no other leads from where to go from here.

One in a billion.

It means that we can't discuss with other families what does and does not work. It means that we have no idea what her long-term prognosis is. It means that she will be forging the way for families behind us. Our story will help them. We don't have a story to help us. 

One in a billion.

Go figure.

I sit here in my little almost empty house missing my peoples. Praying for Aaron. Worrying over him from afar. Missing Elijah already. Wishing the summer hadn't flown by so fast. Wondering how little girl is doing in school. Realizing that this moment of quiet is the longest I have had in forever. 

Thursday morning.

I think I just might go have myself a quiet cup of tea.

And pray for my sweet boy.


  1. You have a rare treasure, indeed. I am thankful for your tenacity and determination to solve the Mary-Mystery, and expect this new information will be a gigantic clue that will help determine which approach will be best to take with her.

    Your family is truly walking the Wilderness Road alongside of Mary, with newfound discoveries all along the way...and marking the trail and creating maps for others to follow.

    I hope all went well at school today and will continue to go well. Mary Sasha and her brothers look so happy in this picture.

    I also hope Aaron's surgery will go smoothly and healing will be rapid and without complications. Know all will be glad when he's back home again...

    Enjoy your tea and the rare chance to sit down and just breathe and visit with yourself for a little while. Back-to-school lonesomeness is very normal for moms who are used to having a houseful, and it will take a little adjustment to get used to having time to reconnect with yourself.

    Thanks for the updates - glad for the progress in understanding more about Mary's situation.

    Hugs all round again - can't have too many!

    Susan in Kentucky

  2. Dear Julia,

    I was about to comment so many times, but never did. But this time I do it, because "what if?...".

    Little Mary's situation seems (to my layman eyes) so similar to a little boy's case in Hungary (Europe), I learned about a few years ago.

    Little Áron (yes, the same name as your Aaron)started to have epileptic seizures when he was half a year old. By the time he was two, he had hundreds of seizures a day, but his parents were told that all options for medication or therapy had been exhausted, and that the doctors didn't know of any other way to try to help him. That's when the parents started to look for other options themselves, and they found out (with the help of some patients' foundations in the US), that a brain surgery still might be an option.

    They finally opted for a brain surgery in Paris (La Fondation Ophtalmologique Adolphe de Rothschild), the other option would have been near Boston. That's when they went public with their story, in order to fundraise for the operation.

    As far as I understand, the operation meant that the surgeon cut off the connections in his brain, which caused the seizures. The operation was not without risks (the worst case scenario was that Áron would be left paralysed on one side), but it went well (it was in 2013). A few months later, sizures came back, although in a milder form, thus Áron had a second surgery. But this seems to have cured the disease completely.

    Áron started to develop by hoops and leaps from then on. He first learned to stand, then to walk, then to run, then to ride a bike, and everything else he hadn't had time to learn, because of the seizures filling his day.

    Today he's 8 years old, seems to have caught up completely with his peers, and starts school.

    I'm not in any way related to the family, I only know about them because they went public with their story when they were fundraising for the surgery. However, the parents are still posting on Facebook about his everyday life, both in English and in Hungarian:
    (In case links are not allowed, please search "Arons's Friends" or "Áron barátai" on FB.)

    I made this comment in the hope that by contacting the parents, you might find support or even find out some so far unknown options for little Mary.

  3. If your doctor isn't a geneticist (and even if they are, they may not know about this) consider asking them to submit you to a gene match maker service- one of the more popular ones is . Just because other children aren't published doesn't mean they aren't out there. Your doc could also try the testing company (there are about 4 really popular ones so they could try all of them) to see if they would match you with anyone else they've given that result to in hopes for more info!

  4. Hope you had a good cup of tea, dearest Julie! Prayers are with you - I'm glad from so many people. I find myself fighting the "why?" questions but refusing every slander against Abba...
    Though I have no idea about the why's and no idea on the time frame, I am confident that He is walking you through all of these days. He is demonstrating the great worth of your daughter and every child. He alone can sustain your perseverance. Asking for breakthroughs and refusing the lies which leave you stranded "It shouldn't be like this. I shouldn't be this hard. I should be easier/a shorter time frame... May He glorify His Name in and through and before each of you and a watching world!!

  5. Oh Julia! I am so sorry.

    Thanks for sharing and BIG BIG HUG


Loving words from kind people make our hearts glad!