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Kathleen Smith: Lily was developing normally, she was moving her limbs, she had pretty good head control. At about 4 ½ months, we started noticing that she was getting very stiff. I was breastfeeding at the time, so I started eliminating things from my diet, thinking that it was tummy issues. And then, we noticed that her head really was getting floppy.
So we had taken her to the doctor for her four-month development checkup, and it was at that time that I had to do a developmental milestone checklist and I noticed that she could no longer do some of the things that she could have done the month prior. That was shocking to the doctor as well, and he encouraged us to see a developmental pediatrician.
When her cry changed — she started with a really, really high-pitched cry. We went right to the ER. We were met by a neurologist who took us back and we did a CAT scan and we had results showing there was white matter on the brain. Something I’ll never forget hearing. That evening, we were given the diagnosis of Krabbe. We were told to spend as much time as we could, take as many pictures, because we had about seven months left with her.
Benjamin Smith: What we didn’t know at the time, was this Dr. [Maria] Escolar was performing all kinds of research right here in Pittsburgh, which was not very far from where we live. She had about five different research projects ongoing. This is her specialty, rare diseases are her specialty. She let us know that it was time-critical that we get up here as soon as possible. Every minute that we wasted, the disease was taking something else from our daughter.
Kathleen: We came to Pittsburgh with just that and hope, you know, that Dr. Escolar would be able to keep her the most comfortable and obtain the most information from her to use for future children. We had done a little bit of research and knowing that there is a cord-blood transplant that they will do that will allow the enzyme to be made. So she is missing a very specific enzyme that creates demyelinization in the brain, which makes it so that she can’t control her arms, her legs. She can’t travel from the brain all the way down here, this is what has been injured.
What was already lost cannot be regained, but we could preserve what she hadn’t yet lost. Dr. Escolar was giving us hope. Cognitive ability isn’t really affected, so if we could preserve all of that, she could have a decent quality of life.
Everyone was so caring and so loving and so understanding to me as the mom that was totally stressing out.
Benjamin: When we found Pittsburgh, Children’s Hospital of Pittsburgh, it was life-changing.
Kathleen: This place is amazing. They make miracles.
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh One Children’s Hospital Way 4401 Penn Ave. Pittsburgh, PA 15224
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
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