Tag: Tori

Q&A Part One: Krabbe Disease, Stem Cells, and Treatment

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We asked our Team Tori followers if they had any questions we could answer for them about Krabbe, Tori, etc. and such great questions were presented! I tried to include as many links to respected resources as I could for the medical questions. I also condensed similar questions to avoid repetition.

As I receive more related questions I will add them here.

Because there were so many questions, I have split them up based on category and made several blog posts out of them. 🙂

Krabbe Disease

This is the information our neurologist gave us when she told us the official diagnosis. It is a great resource about Krabbe. The Hunter’s Hope Foundation also has a great page with information about Krabbe that is very well-written and easy to understand.

  1. What was the process for diagnosing her? What were her initial symptoms? How old was she when she was diagnosed?
    Tori was diagnosed when she was 6.5 months old. She started showing symptoms at 5 months. I detailed the progression of symptoms in this post. Our local paper also wrote about her here.
  2. If my child was born in a state that did not do newborn testing, can I still have her tested?
    Yes! Anyone can be tested through a genetics doctor. You can also purchase a kit and take it to the hospital to be used at birth.
  3. Can you tell if Tori can still hear and see you?
    We know that she can still hear because her startle reflex is still excellent and she will jump at little noises still. We believe that she can still see us but we’re not sure how well. The ophthalmologist believes that her vision is low because of the testing results and the MRI images. She is believed to have Cortical Visual Impairment. However, she will often make eye contact with us, and she definitely can see light (based on how she stares at her giraffe).
  4. How do they determine when she has entered stage 4?
    According to other Krabbe families, loss of body temperature regulation, loss of hearing, increased sleepiness.
  5. Where is she getting treatment?
    Tori is under the care of Dr. Escolar at the NDRD of the Children’s Hospital of Pittsburgh as well as many physicians here in Hershey. Dr. Escolar is one of the leading experts in the disease and has seen over 130 Krabbe babies/children to date. You can read more about the NDRD here.
  6. What does the breast milk help? I know easier digestion, but anything else?
    We chose to keep her on breast milk because of the immunity benefits as well as the nutrition. It doesn’t help the disease in any way, as far as I know, but it has been far easier on Tori’s stomach than the formula they had her on in the hospital. We have been so blessed with donor milk for her!
  7. Can Krabbe cause Failure to Thrive?
    Yes. Krabbe babies have a difficult absorbing fat – Tori included. At diagnosis her body was in the 2nd percentile while her head was in the 97th. We have to fortify her breast milk with MCT oil, which is an easily absorbed fat, to help her gain weight.
  8. I understand the brain will eventually lose control of life sustainable abilities; do they need oxygen later as it progresses?
    Yes, from what we understand.
  9. Is there a national network for Krabbe with a support group?
    There are several that are excellent. Hunter’s Hope and Judson’s Legacy are two major non-profits that help Krabbe families, and there is also a Facebook group for Krabbe Families that has been a tremendous source of support for us.
  10. What is her muscle usage like? Can she move her arms and legs anymore? Will she eventually lose all muscle function?
    Tori doesn’t move much anymore but can still move her neck, arms, and legs.
  11. Do you know if New Zealand screens their Newborns for it?
    I haven’t been able to find a definitive answer…
  12. At what age does Krabbe not affect a child? Or can it come about at anytime throughout life?
    It can start as early as birth and can appear at any point in life, though it is the most rare after age 11. Judson’s Legacy has a great graphic about this here.

Stem Cell Transplant and Treatment

  1. Will Tori have further testing? Do they do more testing once a child is diagnosed?
    When we saw Dr. Escolar in Pittsburgh, she did an MRI, spinal tap, vision tests, and blood tests using her specific Krabbe protocol to properly assess the status of Tori’s case. We aren’t sure if Tori will undergo more testing when we return next month to Pittsburgh.
  2. I know the science with cord blood transfusions is very new but how do they determine the cut off point for when babies are no longer eligible for the treatment? Are they certain that remyelination will not take place? Why are babies no longer eligible for stem cell transplant treatment once they have the onset of symptoms?
    Krabbe damages the myelin in the brain and once it gets to a certain point it is irreversible. The damage has been done. Therefore, doing the stem cell transplant can only stop the progression but cannot reverse anything. In Tori’s case, because of how aggressive her case is, the process of the transplant (including chemo) would actually cause the disease to accelerate. She was therefore not a candidate.

True Selflessness

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Intense love does not measure, it just gives.
– Mother Teresa

I always knew that motherhood would be a selfless endeavor. From the very beginning, your body, your time, your thoughts, everything revolves around, and belongs to, your children. Before I became a mother I had an idea about what it looked like to be selfless and I knew I could handle it with the Lord’s help. After all, a mother’s love is one of the strongest forces on earth, and I was ready for the challenges.

I had no idea just how “selfless” my life would become when Tori became sick.

By the way, I don’t write this (or any other post) to invite pity or sympathy, or even accolades. Rather, I continually strive to be transparent during this journey in hopes that someone will be encouraged or challenged by how the Lord is speaking to our hearts and working in our lives.

Here’s my reality and a glimpse into my daily life with a terminally-ill child.

I haven’t had more than 5 full nights of sleep (defined as 5 straight hours) since Tori was born. To say that I am exhausted is an understatement.

When she was healthy, the sleep deprivation was bearable because she was such a joy, such a delight. I didn’t mind nursing her every two or three hours because she was always so happy, so content. Watching her learn and grow filled my heart with enough energy to endure the sleepless nights (and days). Her smile and laughter would fill my heart with a palpable joy and my heart would overflow with love. That was my reward and it filled me up like nothing (except the Lord) ever has.

When she was healthy, I was still able to do things for myself (like shower and eat a good lunch) because she was content to play with her toys on her own and would nap without being held for 20-30 minutes at a time. I could still take care of our home and do things for myself like shop, read, eat meals, etc.

My view of what selflessness means changed drastically in January 2015.

“For even the Son of Man (Jesus) came not to be served but to serve others and to give his life as a ransom for many.” – Mark 10:45

My days are a blur, much like the lives of those with healthy babies, but there is no tangible “reward” for my selfless service anymore.

My days now revolve around medication and feeding schedules, appointments with specialists and Early Intervention (which is a WONDERFUL program and I am so thankful that our tax dollars go to pay for this), and keeping Tori comfortable, which usually means rocking her in our recliner most of the day.

If I am lucky (or if someone comes over to hold Tori), I can take a five minute shower while Tori stares at her light-up giraffe on her changing table (it has rails and she doesn’t roll, so she is completely safe).

Eating doesn’t always happen – at least not healthy eating.

I rarely leave the house because Tori doesn’t like being in the car and we aren’t sure if she is in pain while in the car seat. Thankfully, I just discovered that our local grocery store will deliver groceries for a nominal fee (and the first 60 days are free). What an amazing blessing this service will be.

Doing simple things for myself usually doesn’t happen at all these days. As much as I want to work on her Project Life album, read my Bible (not on my phone), or even CLEAN MY HOUSE (yes, I actually long to do normal things like that now), they just don’t happen until Brennan is home for the evening, if at all. And even then, I struggle between wanting to clean my house/do things for myself, and wanting to spend time as a family doing other things.

I don’t think about how little I am doing for myself very often, and when I do, it is then that I am overwhelmed by the energy my life currently requires. I went from such an easygoing, low maintenance life (even with a baby) to a life that is so high maintenance that it is overwhelming at times.

I don’t like this, I don’t want this, and I keep praying it’s all a nightmare.

Yet, I don’t think about how hard it is as I am living it – I just do it.

Though my priorities have shifted drastically in the past three months, I know that I have to find a balance because I need to take care of myself while also caring for Tori. Now that her G-Tube surgery is complete and her appointments outside the home are slowing down, I am hoping to have more time to figure out how to accomplish these things.

Through all of this, I am continually learning to praise the Lord in the midst of these difficult and unwanted circumstances because I know that He is using them to refine me and to make me more like Jesus.

Does this mean I like what is happening? No.

Does this mean that I am a perfect Christian mother and entirely unselfish? Ha. Definitely not.

But, I trust that He is redeeming this terrible situation in ways we can’t even imagine. I trust that I will be a more loving and selfless person because of all that we are going through.

It’s a moment by moment process of surrendering my own desires for what is best for Tori. It isn’t easy, I’m not perfect at it, but thankfully we serve a God who showed us what selflessness looks like when He sent His son, Jesus, to our world two thousand years ago, and that same God is just as full of love, grace and mercy today as He was then.

Philippians 2:2-11

2 Is there any encouragement from belonging to Christ? Any comfort from his love? Any fellowship together in the Spirit? Are your hearts tender and compassionate? 2 Then make me truly happy by agreeing wholeheartedly with each other, loving one another, and working together with one mind and purpose.

3 Don’t be selfish; don’t try to impress others. Be humble, thinking of others as better than yourselves. 4 Don’t look out only for your own interests, but take an interest in others, too.

5 You must have the same attitude that Christ Jesus had.

6 Though he was God,[a]
    he did not think of equality with God
    as something to cling to.
7 Instead, he gave up his divine privileges[b];
    he took the humble position of a slave[c]
    and was born as a human being.
When he appeared in human form,[d]
8     he humbled himself in obedience to God
    and died a criminal’s death on a cross.

9 Therefore, God elevated him to the place of highest honor
    and gave him the name above all other names,
10 that at the name of Jesus every knee should bow,
    in heaven and on earth and under the earth,
11 and every tongue declare that Jesus Christ is Lord,
    to the glory of God the Father.

I live my life with my “hands empty, eyes up” and I “do the next thing” (both of those quotes were topics that were discussed at the “Night to Breathe” event and I will be writing more about them in the future). I surrender my exhaustion and my fear to the Lord and He sustains me. Most days, I have no idea how I got through it all, and that is a huge testament to God’s constant presence in our lives.

I don’t know what the future holds for our little family, and I am overwhelmed when I think about what may be coming our way. So I choose to live moment by moment, day by day, and I do whatever I can to serve my daughter as selflessly as I can, knowing that she is suffering more than I can begin to imagine, and knowing that Jesus Himself lived a completely selfless life to redeem us and be our perfect example. It truly is the least that I can do.