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. 🙂
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.
- 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.
- 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.
- 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).
- 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.
- 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.
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!
- 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.
- 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.
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.
- 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.
- Do you know if New Zealand screens their Newborns for it?
I haven’t been able to find a definitive answer…
- 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
- 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.
- 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.