We had originally planned to just stay inside the hotel since they hadn’t scheduled anything for us today. Given the temperature outside, that was desirable. However, they were unable to do some of the evaluations yesterday so we came back today.
The morning started with a meeting with Dr. Escolar, where she went over the MRI findings as well as the genetics behind this disease. She is a wonderful teacher and definitely an expert in this disease.
Their website is here: http://www.chp.edu/CHP/neurodevelopment+in+rare+disorders
Starting with the genetics, Brennan and I basically had the same odds as winning the lottery in giving these specific gene mutations to Tori. Maybe we should buy a ticket (kidding).
Essentially, she is almost certain (before we even do our blood testing) that we both carry a recessive gene mutation that came together when Tori was being formed. Our full siblings are almost guaranteed to have the same mutation. Just because babies don’t show symptoms doesn’t mean they won’t end up with late or adult onset. Of course, there is a 25% chance of our babies being born perfectly healthy and a 25% chance that they will be a carrier of the gene.
She recommended that our family members be tested before having children.
Then she told us what she saw on the MRI and the spinal tap. Tori is beginning stage 3 (of 4) of Early-Infantile Onset Krabbe. Stage 4 will begin in months, not years. She explained what will start to happen, but I can’t remember everything that she said. It was a lot to take in.
Tori is not a stem cell transplant candidate because of how advanced the disease is already. Dr. Escolar said that the process of the transplant (chemo, etc.) would actually accelerate the disease.
In short, only an act of God Himself can save Tori.
From this point on, we will be trying to make her as comfortable as possible while the disease takes its toll.
In the afternoon, she repeated the visual tracking testing and did well. They said she seems to still be able to see things.
Tomorrow she we will have three tests to determine the severity of the damage, and then we head back to Harrisburg on Saturday morning.
Please continue to plead with God for her full restoration! We believe that He can! We will continue to hope until the very end that He will choose to heal her here on earth. And if He doesn’t, we will trust Him in that as well.