Krabbe

Reminders of Krabbe and Choosing to Be Joyful

/ lesabrackbill / 2 Comments

There will always be reminders of Krabbe and its effects on Tori in the least expected places.

The other night, for instance, on The Good Doctor, they had a patient who was unable to smile because her cranial nerves were not working properly.

Just like Krabbe.

This is just one example, of course. These situations always catch us by surprise, and it’s hard to believe that even just four years ago something like this wouldn’t have phased us. We would have enjoyed the episode of the show but it wouldn’t have made us think about anything else.

When times like this happen, we have a choice: focus on what Krabbe stole from her – and us – with sadness, or focus on all that Heaven restored to her with joy.

And, as always, we choose joy.

Her smile was amazing, even though we only saw it for five months. I think we will appreciate her brothers’ smiles far more because of this. Each smile, each expression…such joy.

We remember her smile with such love and eagerly await seeing it again soon – but not yet ❤️

“She was abnormal from birth, you just didn’t know it.”

/ lesabrackbill / 4 Comments

These words have stuck in my mind since meeting yesterday with the neurologist who diagnosed Tori.

The sentence was spoken with the same gentleness she used on diagnosis day, and it came after we discussed the impending arrival of the twins.

I remarked that I couldn’t wait to see them achieve milestones that Tori never did, though those moments might be emotional because she never did.

And that’s when she gently said those words: “She was abnormal from birth, you just didn’t know it.”

I told Brennan that evening what she had said we pondered her words. We were new parents, and there are ranges for each milestone, so we weren’t worried until Krabbe had set in and something was clearly wrong.

But, in hindsight, the neurologist is correct.

Tori never had great head control. She never truly laughed a rich, full belly laugh. Tori never slept well. She hated tummy time. She never ate enough (and threw up much of what she did) and was tiny. Tori only rolled over one time at five months old, right before Krabbe overtook her brain.

It makes us wonder what else was abnormal.

As the boys grow, learn, and develop, I know our joy will be even greater as we watch in wonder at their accomplishments and milestones. We will watch in awe as they learn and develop. It will not make us feel sad for Tori, but rather overjoyed for them because they are HEALTHY. They are Krabbe-free. And they are going to LIVE and grow.

And we can’t wait. ❤️

Completely Different

/ lesabrackbill / 9 Comments

I haven’t changed my phone wallpaper in almost two years.

My dad captured this moment only a couple of days before Tori went to Heaven and it’s the last non-selfie photo I have of me and her together. I have had no desire to change it because it’s comforting to me. I like that it’s always there, easy to find, and that it represents the deep trust she had in me.

I like that it’s the same photo day after day.

This pregnancy has been both similar and different to my pregnancy with Tori. In many ways, though it was still relatively easy, hers was more complicated.

Both pregnancies were/are easy in regards to no morning sickness, little discomfort, no swelling, etc. I do not take it for granted that my body seems to like pregnancy!

But there are some major differences:

  • I had gestational diabetes.
  • I had excess amniotic fluid (because of the GD).
  • I gained over 30 pounds.
  • My hips caused me pain constantly.
  • She would sleep through non-stress tests, triggering multiple ultrasounds each week.
  • I tried to deliver her naturally and ended up having an unplanned c-section.

When we found out that we were having identical twins (mono/di), we immediately assumed that we were in for a rough ride.

And, thus far, we’ve been completely wrong.

  • I passed my glucose test!
  • My fluid levels are normal.
  • I have only gained 20 pounds.
  • My hips only hurt while trying to sleep.
  • We will see about the non-stress tests, which start at 32 weeks 😉
  • Even though I have ultrasounds every other week, everything is going as smoothly as possible! No complications; good, steady growth; very active; healthy boys.
  • This c-section is scheduled, and I am happy about it this time!

I had prayed that God would let us have the easy road this time, and while we’re not in the clear until they are born, so far He has blessed us with a normal pregnancy, and we are beyond grateful. I needed this.

(25 weeks and 29 weeks)

We’ve begun to realize that everything about what’s going to happen in April is completely different than with Tori.

  • Boys, not a girl
  • Two, not one
  • No Krabbe, no genetic issues

And we need these differences, too.

Because it will be completely different, there will be less temptation to compare them to Tori. She has her place in our hearts and they will have theirs. ❤️

We have no reason to fear the future with the twins and yet we are going to be waiting…for the NBS results, for the 5/6 month mark (when Tori’s symptoms surfaced), for them to surpass her life of 19 months and 27 days. I think until we hit that mark we will wonder if the genetic testing was wrong, if the Newborn Screening was wrong, if things are going to be the same as they were with Tori.

The boys are going to learn to crawl, talk, walk, run, play…things we can’t even imagine because Tori was robbed of those opportunities. I can’t wait (and yet I can) until they are mobile and able to get away from us – something Tori never could.

Usually the status quo brings comfort; in this case, the differences are refreshing. And we need them.

I wonder what I will do and how I will feel when the boys are here in regards to my phone wallpaper. I imagine that will be an emotional moment, even if the new photo incorporates Tori in some way, because it will be a reminder that she is in Heaven and not here with her brothers.

But, as we move forward in our new adventure, we know that things are going to change, that change isn’t bad; that things are going to be new and wonderful, even if bittersweet, and we will learn to embrace the change and the joy that these precious boys will bring to our lives.

And we can’t wait. ❤️

Unexpected Emotions

/ lesabrackbill / 1 Comment

I (finally) received my first copy of my published book today!

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As I held it in my hands I was overwhelmed by two emotions: joy and heartache. 

How fitting that the quote I chose for the back of the book talks about that very conflict.

I felt such joy at knowing that my hard work had paid off, that Tori’s story was finally being told in more depth than ever before, and that new people will learn about her and about Krabbe. I’m finding such unexpected joy in being able to say I’m an AUTHOR. 

But, then I was filled with sorrow because I never should have had to write this book in the first place. No one should lose their child, especially to a disease like Krabbe. I would do anything to have Tori back, healthy, running around like an almost-four-year-old would be doing. Anything.

I allowed myself to embrace the tears (likely also caused by pregnancy hormones 😉 ) for a few moments and then I reminded myself of what I know to be true: that all is well. And I focused on the joy that she brought to our lives, the knowledge that she is in Heaven and we will be with her soon (but not quite yet, as Jim Kelly likes to say), and on the fact that God is going to continue to use her – and us – to save lives as we fight on for Newborn Screening for Krabbe. 

As of now, my book is sitting at #1,336 overall on Amazon. That sounds far from #1, but it’s far higher than 8,000,000 (the number of books for sale on Amazon). It’s also the #1 new release in the Christian Families category. And we are blown away. While we don’t yet know how this translates into numbers of books sold, we’re humbled at these stats.

Numbers matter because Tori matters, because increased awareness is based on the number of people who know about Krabbe, and because numbers will generate revenue for us to donate to Hunter’s Hope. 

So, if you haven’t picked up a copy (or several), please do. It would mean so much to us.

Here’s the Amazon link!

It’s Not About The Money

/ lesabrackbill / 2 Comments

Cover_lNow that my book is available for pre-order, it feels slightly weird to promote it. I worked for nearly three years on this project, and yet I am hesitant to post about it.

Most of us are raised to be humble, to not ever come across as self-promoting or a braggart. We’ve somehow received the message that you can’t talk about the things you’ve done. The problem with this is that there’s a difference between arrogant bragging and joyful accomplishment. 

One of my favorite authors, Jon Acuff, has talked about this many times. To paraphrase him, if I don’t share about my book/work, WHO WILL? 

One of the aspects that makes it far easier to share about my book is this: I am making hardly anything off of it. Does that surprise you? Most authors make around 10-20% from the purchases of their books. Brennan and I will make less than $2 per book before taxes, AND we’re donating a portion of that $2 directly to Hunter’s Hope Foundation. 

For us, it’s not about the money – it’s about the mission.

The mission is to make Krabbe known by any means possible, to hopefully increase awareness and multiply the Newborn Screening states (currently only SIX screen), and to provide as much money to Hunter’s Hope Foundation as possible as they advocate for Newborn Screening and support leukodystrophy families.

And, of course, to tell Tori’s story in hopes of encouraging others.

That’s why I wrote this. 

It’s not about the money (though we wouldn’t complain, of course! 😉 ) – it’s about awareness.

So, if you’d like to purchase Even So, Joy you can do so directly through the publisher (for now) or through Amazon.

You may see me posting about this often, and that’s simply because of the algorithms of Facebook and other platforms. Some see all my posts, some see none. By posting often, I hope most will see it at least once!

Please help us spread the word and #MakeKrabbeKnown and leave book reviews on Amazon, Barnes & Noble, GoodReads, etc. once it’s available!

Use the hashtag #EvenSoJoy if you share on social media!

Our IVF Journey: The Results

/ lesabrackbill / 10 Comments

As I type this, I am halfway through the first trimester already – so, our IVF was successful! However, it didn’t go as we had anticipated.

On September 1, we drove to Towson, MD for the transfer. The entire process lasted about ten minutes but the transfer itself was about one second! We were given a picture of our two precious embryos as they were hatching from their shells.

Right before the embryo transfer – #4 is the boy and #6 is the girl

We put in two embryos because we really wanted twins, but we also did it just in case only one made it. Financially it was necessary because this transfer was already paid for but subsequent ones will cost around $4,000 each. We needed this one to work.

The transfer was quick but the waiting was long.  Thankfully we were both distracted by the happenings in our lives and didn’t have much time to wonder if I was pregnant. The pregnancy test wasn’t until September 14, but while I was visiting family in California I took a test and it was positive. It was a super faint line, but there was a line!

On September 14, I had blood drawn and received the call that afternoon that I was indeed pregnant and that my HCG numbers were great – 971! They said it was too early to know if there were twins in there based on the number. More blood was drawn a few days later and my HCG was close to 6,000.

We had our first ultrasound on September 25 – also Brennan’s birthday. At first we were only seeing one baby and our hearts fell. The technician then said, “you’re having identical twins!”

Six Weeks

To say that news was shocking is an understatement, as it’s actually quite rare – even in IVF – for embryos to split. We’re talking less than 2% chance. We were both shocked and saddened at the same time because this means that we lost an embryo.

The funniest part of all of this is that we now have no idea what we’re having! We knew when we put in the boy and the girl…but now we don’t know which embryo split! God has such a sense of humor! We will be happy no matter what we’re having, but we’re hoping these are boys simply because it’s our only shot at boys – our remaining frozen embryo is a girl.

Seven Weeks

Both babies have strong heartbeats (141 at the seven week ultrasound) and are growing right on schedule. I feel fine and have no pregnancy symptoms aside from being a little more tired. My pregnancy with Tori was easy with no morning sickness so I’m praying for the same with the twins!

I have 1-2 more weeks of being seen at Shady Grove Fertility before I transfer to my doctor in Hershey. I cannot recommend Shady Grove highly enough – they are the best at what they do and have been so good to us!

It has been quite the adventure. It hasn’t always been easy and I’m growing weary of the nightly progesterone shots (and the side effects that brings). But, it’s beyond worth it to know that I’m carrying precious Krabbe-free twins (they aren’t even carriers!)!

Thank you all for continuing to pray for us and support us. Please keep praying for the twins – specifically that they are in their own sacs – and for an uneventful and full-term pregnancy. My goal is to carry them until at least 36 weeks, and preferably beyond that. ❤

God is so good and we are so thankful that He has made this possible.

Hunter’s Hope Symposium 2017 – Day Two

/ lesabrackbill / 1 Comment

Today we heard updates from several hospitals that are working toward becoming Leukodystrophy Centers of Excellence in order to better care for these children and their complex needs, and we also heard research updates.

I'm going to jump right to the research updates because this was incredibly exciting.

First, we were told that Dr. Escolar has a paper that will be published the first week of September (a week AFTER the next NBS Advisory Panel meeting in PA) and this paper could very well get Krabbe onto the federal RUSP because it answers questions that previously weren't as clear. Why does the RUSP matter? Many states will only screen for diseases that are added to the Federal RUSP; once Krabbe is added, many states will automatically test for it!

As you probably remember, one of the things we (and many other families) have been told as we advocate is that they need published data. We've all been waiting and waiting for something to be published to help our case for adding Krabbe and this will apparently be it!

Second, and THE most exciting part: they are so close to a cure for Krabbe. The doctors didn't say it like that but it was apparent that is what they meant. Dr. Escolar and others have been treating twitcher mice with Krabbe successfully using the bone marrow transplant AND gene therapy together and the outcomes have been unbelievable!

This chart shows the life span of mice who were untreated, treated with bone marrow transplant only, and a combination of the two. The combination therapy is the top blue line. The mice who had the combination therapy in 2015 are STILL LIVING and show no signs of the disease!

The FDA has approved the idea but it won't go to clinical trial for 3-5 years unfortunately. In the meantime, our hearts are so hopeful because this is incredible news.

Thirdly, they discussed the improvement in the NBS test itself and the near-elimination of false positives using two factors and not just one (low GAL-C activity and high psychosine levels) and by using a computer algorithm to sort the data that has proven to accurately predict the form of the disease (early or late onset).

I tried to simplify all of this the best I could. To sum it up, research has made leaps and bounds in just the last two years and they are closer to a cure than ever before!

Dr. Kurtzberg from Duke also reported on the success they are seeing in stem-cell treatments of Cerebral Palsy and Autism. Stem cells from cord blood are incredible tools and doctors are doing amazing things with them.

Hunter's Hope does such an amazing job of not only funding research but also coordinating the dialogue and cooperation between scientists who are all working toward the same end. If you would like to support them, you can click here! Our goal is to raise $3,000 for them before Friday's walk!