Category: Krabbe

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

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.

“Do you ever tell God that you are angry at him?”

We are asked fairly often if we are angry at God or frustrated with Him.

We can honestly say no. We are not.

Are we curious to know why this is happening? Of course.

Do we have our moments of sorrow and frustration at our circumstances? Definitely.

But anger at God has not been and is not currently something we are experiencing.

God is God and we are not.

“My thoughts are nothing like your thoughts,” says the LORD. “And my ways are far beyond anything you could imagine.” Isaiah 55:8

As I wrote before, we trust God completely and, even though we don’t like what is happening, we know that we will eventually (even if in Heaven) understand why this happened. We know beyond any doubt that He is trustworthy, faithful, and loving.

We know that He will be glorified through her life no matter how long we have her here on earth.

This doesn’t mean that we are “okay” with Tori’s situation, blindly accepting it without emotion. But, it does mean that it’s “okay” in the sense that we know that God is in control, we know that He loves us – and her – and we know that He has an amazing plan for all of our lives. We are unable to comprehend His plan at this moment, but we trust that He has one.

We are filled with His peace that exceeds all that we understand. There is no earthly reason for us to be so at peace with all of this – it is absolutely from God. Being at peace doesn’t mean that we are okay with any of this, but it means that we trust the One who knows all and created all. We trust Him fully with our precious Tori and know that He loves her even more than we do. We know that He eventually uses all things for the good of those who love Him (Romans 8:28).

It is a moment-by-moment process of surrendering all of this to Him and choosing to not worry, to not be angry, and to continue to hope that He will choose to heal her here on earth. He is more than able, and nothing is impossible for Him (Luke 1:37)!

The daily reading for today is from Psalm 66, and it is so fitting for our situation, and for this question:

Psalm 66

Shout joyful praises to God, all the earth!
    Sing about the glory of his name!
    Tell the world how glorious he is.
Say to God, “How awesome are your deeds!
    Your enemies cringe before your mighty power.
Everything on earth will worship you;
    they will sing your praises,
    shouting your name in glorious songs.” 

Come and see what our God has done,
    what awesome miracles he performs for people!
He made a dry path through the Red Sea,[a]
    and his people went across on foot.
    There we rejoiced in him.
For by his great power he rules forever.
    He watches every movement of the nations;
    let no rebel rise in defiance. Interlude

Let the whole world bless our God
    and loudly sing his praises.
Our lives are in his hands,
    and he keeps our feet from stumbling.
10 You have tested us, O God;
    you have purified us like silver.
11 You captured us in your net
    and laid the burden of slavery on our backs.
12 Then you put a leader over us.[b]
    We went through fire and flood,
    but you brought us to a place of great abundance.

13 Now I come to your Temple with burnt offerings
    to fulfill the vows I made to you—
14 yes, the sacred vows that I made
    when I was in deep trouble.
15 That is why I am sacrificing burnt offerings to you—
    the best of my rams as a pleasing aroma,
    and a sacrifice of bulls and male goats. Interlude

16 Come and listen, all you who fear God,
    and I will tell you what he did for me.
17 For I cried out to him for help,
    praising him as I spoke.
18 If I had not confessed the sin in my heart,
    the Lord would not have listened.
19 But God did listen!
    He paid attention to my prayer.
20 Praise God, who did not ignore my prayer
    or withdraw his unfailing love from me.

Praise God who does not ignore our prayers or withdraw His unfailing love from us.

What NOT to Say…

When we made Tori’s story public we expected to hear from people genuinely trying to help save her life. We have greatly appreciated the time and energy people have put into trying to help her, and us!

However, we have also received messages and comments from people who clearly haven’t researched Krabbe and are merely trying to push their own beliefs and platforms on us. There is a huge difference between the two, and it is always obvious which camp the person commenting is in.

Below is an email we received yesterday from a woman who claims to be a health and wellness coach on her Facebook page. She has stated in the past that she believes that things like ranch dressing cause cancer, to give you an idea of her beliefs. She is part of a Facebook community that I am also involved in, and that is how she heard about Tori. She doesn’t like to be confronted and always deletes comments from people questioning her “facts” with actual research. She strongly believes what she preaches but is apparently very insecure when questioned.

This is an example of what NOT to say to a family that has a dying child. I included my responses as well to paint the entire picture.

NOTE: this post is not to stir up a debate about vaccines. Please do not comment with your opinion about them as it is completely irrelevant to Krabbe and it isn’t the point of this post at all. 🙂

Hi Lesa,

I’ve been thinking of you and your family. How is Tori doing? And yourself?

I wanted to get in touch with you as I find out the resource I had for you never got in touch with you. I am sorry.

When I first read of Tori’s story I immediately sensed why she had the reaction she did. To confirm, she had these problems right after vaccinations, correct?

The toxins that are in the vaccines include aborted fetuses, heavy metals, and a host of other things that God never intended our bodies to have. Vaccine injury is very real and to date the US gov has paid out over $3 Billion to families.

Here are some resources to get you started in the healing process of Tori and your family:

I highly recommend that you start a vaccine detox with Tori to help her body get rid of the toxins. 
(Links omitted)

Please let me know what questions you have and how I can support you in Tori’s healing and in discovering the truth. 

It is apparent that this woman has not actually been following Tori’s story or diagnosis at all. So, the fact that she wrote to us with those suggestions was not helpful or welcomed. But, I decided to still answer with grace.

I kindly responded to her email:

Thank you for sharing your thoughts and resources! 

Unfortunately, Tori has Krabbe Leukodystrophy – a genetic disease. Brennan and I both carry a recessive gene for the disease (we now know) and unfortunately Tori inherited both recessive genes. 

Krabbe destroys the central and peripheral nervous systems because the body doesn’t produce the GALC enzyme. 

I wish it were as simple as a vaccine. We are pro-vaccinations and believe they do more good than harm. Her shots had nothing to do with her genetic makeup, so without a miraculous healing from God Himself, she isn’t going to live past the age of 2 years. 

For more information on this terrible disease you can see http://www.huntershope.orgor 

Thank you for your concern! If you want to keep up with Tori, I have been blogging extensively about it at and her Facebook page is

Her only response?

Even though they contain aborted babies?

 I thought for a long while about how to reply because I wanted to be kind:

With all due respect, I have never seen a legitimate source write about vaccines containing aborted fetuses. And, if it is true, it’s not like they aborted the babies just to make the vaccines. If anything, that aborted fetus is saving lives by being in that vaccine, which takes a horrible act and brings good from it in a way…if it is even true.

But, that isn’t what this is all about. Our baby is dying (and suffering in the process) and right now I honestly couldn’t care less about the vaccine debate. What I care about is getting legislation passed in each state to ensure that every newborn is tested at birth for Krabbe so that no more babies lose their lives to this horrific disease.
If the issue had been left there, I wouldn’t have minded. However, she posted the following status on her PUBLIC page not long after this conversation happened:
IMG_9894I was stunned when I saw this. The timing of it made it impossible to believe that it could be about anything – or anyone – else. I commented on her status asking if she was writing in reference to me, and she promptly deleted my comment (and the ones from other friends of mine who saw the post) and then deleted the post and blocked all of us.
The whole situation made me laugh, honestly. Yes, I was annoyed when I saw her status about us. How anyone could say something like that, claiming that we aren’t doing everything we can to save our child’s life, is unbelievable. But, more than anything, I feel sorry for this woman. She is so misguided and her Facebook page is filled with ridiculous health claims. She doesn’t appear to have any credentials or health education, yet she is offering health claims and advice to the public as a business. Sigh.
Krabbe is genetic. Nothing we did caused it. Vaccines sure didn’t. In fact, vaccines are highly recommended for Krabbe babies.
Moral of the story: Don’t say that parents of a dying child are not trying to save their child’s life. Don’t offer advice without researching the disease. It isn’t helpful, it hurts feelings, and it wastes precious time.

Our First Bump in the Road of Parenting…

This is likely going to be long, but it is mostly for our benefit anyway because I want to remember everything that has happened thus far in case we need to recount it later.

The first five months of Tori’s life were so joyful, despite her hatred of sleep for the first three months and my accompanying sleep deprivation. She was rarely fussy – only when super tired – and she smiled and talked all the time. She was meeting and even exceeding expectations in terms of milestones. I posted photos and videos frequently because she just kept getting cuter and cuter.


In the middle of January I began to notice a change in her demeanor. She was extra fussy and had gone back to not sleeping much at all. She was clingy and I couldn’t put her down for more than a couple of minutes, if that. She had also started to have “volcanoes” again after eating – where she would throw everything back up all over me.

I was admittedly frustrated with it all because I couldn’t shower, cook, eat, or anything else without her crying because I wasn’t holding her. I didn’t think about the possibility that she wasn’t feeling well. This has been my first experience with feeling “mommy guilt” because I had no idea that she was not feeling well.

There are ranges for each milestone and I hadn’t worried about the fact that she wasn’t even trying to meet some of them yet. But when I started to see friends post photos and videos of their babies, close in age to Tori and some younger than her, achieving milestones that she hadn’t yet even attempted, I started to wonder.

One day I realized that I hadn’t seen her smile or heard her talk in about two weeks. I joked with Brennan that we must not be funny anymore because she just wasn’t laughing or smiling.

I looked back through my videos and the last one of her talking and smiling was on December 29th. I read online that babies will often stop talking when they are working on another milestone or when teething, so I didn’t think much about it during those two weeks. But, combined with her other behavior changes, it was time to call the doctor.

Brennan and I had just been talking about how she felt heavier and we were so thrilled to see her growing since she had been so petite thus far. So, when the nurse came to weigh her at our appointment and she had only gained two ounces the month prior, I started to be afraid. My five month old only weighed 11lbs 9 oz.

The doctor reweighed her to verify the unbelievable number on the scale, and it was accurate. He did the rest of the measurements and found that her head had continued to grow – meaning that her brain was getting the nutrients it needed – even though the body growth had slowed. Her body was now in the 2nd percentile and her head was in the 97th.

As I described her behavior and symptoms, he suggested that we try reflux medicine as everything pointed to an acid reflux issue. It appeared that she was only eating enough to get the hunger pains to go away, explaining the lack of weight gain and her frequent feedings. It also explained the rest of the behavior changes so well.

He wrote a prescription for baby Zantac. He said it could take 7- 10 days to take effect and up to two weeks to see a change in behavior. He said if the meds didn’t work, he wanted to have an MRI of her head done to address the lack of development and the regression of talking and smiling.

I left the appointment feeling encouraged because the diagnosis made sense, but I still had doubts and found myself worrying that something else was wrong.

The next day, she had an upper G.I. study at the hospital and everything looked good.


I am not a worrier or a fearful person at all. But, around day 7 of the medicine, with no changes or improvement in behavior, fear began to take over. My brain kept thinking about the what-ifs, the worst possible scenarios. I found myself in tears at one point thinking about losing her to whatever this could be. I had to pray and pray to fight the fearful thoughts in my mind.

One thing that has surprised me about motherhood is the depth of my emotions in regards to and love for Tori. It has driven me to prayer more than anything ever has. I combatted the fear with prayer and with truth – that God is sovereign and in control – but also knew I needed to take action.

Around day 8, I really started to question the effectiveness of the medicine because she still seemed to be miserable. I also continued to sense that something more was going on. But, since she was sleeping a bit better and had been slightly less fussy since we started the meds, I waited it out.

By day 13, I knew I had to make another appointment because she seemed to be in real pain now, and the sound of her cry had changed. She was also waking up with a cry that sounded like she was either having a nightmare or in extreme pain.

This brings us to yesterday. I took her in to the doctor and she was crying when the doctor came into the room.

As he listened to her, he said she definitely was in pain. He did her measurements again and found that she had only gained an ounce in two weeks, despite the fact that we had started to introduce solid food at his suggestion.

After listening to my observations and listening to Tori, he is now convinced that she is indeed in pain, and he thinks that it’s from migraine-like headaches that are possibly being caused from fluid on the skull. This would explain her getting mad and then throwing up, too, because she is feeling nauseated. And who wants to learn or try new things with a migraine?

The doctor said that this all makes sense with the jump in her head size that happened at two months. We had an ultrasound of her head then to check the fluid levels and everything was fine.

He also said that there is part of her soft spot that is a strange shape which usually indicates a fluid issue. He said this doesn’t normally show up until 6 to 9 months, which would explain this so suddenly occurring as well. He said this would also explain not eating very much because she’s in pain, as well as missing the milestones lately.

We have an appointment with a neuroscientist on Tuesday to hopefully get an MRI – for which she will have to be sedated. This is our way of getting around the ridiculous wait time to have one done at Hershey Med (May 6!).

I didn’t think to ask what the next step would be if the doctor is right, which I now think was wise. I have stayed away from Google and refuse to look this up. I am not thinking about anything except for bringing comfort to Tori as we wait.

I feel so much more at peace now, even though I should probably be freaking out. I am so thankful for the Holy Spirit nudging me and helping me see that I needed to pursue testing and treatment for her. Of course, once we know the results and the course of action to be taken, I may freak out. But, for now, “it is well with my soul.”

We are choosing to trust God in all of this and praying for relief for our precious baby. We know that she is being prayed for by hundreds of people and we feel so supported by our church. They are bringing us meals for the next week to ease the burden of cooking during this troubling time. ❤️ Such a wonderful and humbling blessing.

We are also thankful that it seems like she has only been in pain for one month and not six.

Please pray with us and for us. Pray for quick answers, for healing, for comfort for Tori, for wisdom for Brennan and me, and for the Lord’s leading in all of this.

This parenting gig is not for sissies.