They collected blood (which was always a nightmare with Grace) and urine. The neurologist evaluated her and she got a head CT scan. We went upstairs to the pediatric floor and Grace was admitted. At that time the neurologist was suspicious that Grace was having infantile spasms. At the time this was very scary but treatable. Grace then underwent over two days of testing including 48 hours of video monitoring and continuous EEG, a head CT scan, and blood and urine tests. It was an exhausting experience but Grace kept “passing” all of her tests much to our relief. As result after result came back negative we’d tell her what a good girl she was and how proud we were.
By this point the neurologist was on his way to ruling out infantile spasms and told us how encouraged he was by Grace’s results. The only two tests that were left were the head MRI and spinal tap. After discussing it we said that we wanted to avoid the spinal tap unless it was absolutely necessary. We all agreed and Grace went off to get her head MRI.
Alysia and I were in the hospital room when the anesthesiologist came in and told us that Grace’s MRI was “not normal” and that we would need to get a spinal tap to learn more. Alysia and I were stunned. We were told that Grace had decreased white matter in the brain. Alysia and I went outside and sat on a bench while Grace went for the spinal tap wondering what the results could mean.
That night we were all finally back together and had to wait for the test results. Grace was very groggy and had a hard time recovering from the anesthesia. The results from her spinal tap came back and indicated that she had elevated protein in her CSF (cerebral spinal fluid). That would mean that she would need a spinal MRI and abdominal CT scan. We kissed her and she was wheeled off to her next round of tests.
The spinal MRI and abdominal CT came back negative and Alysia and I were confused but cautiously optimistic. We began to hope that if they couldn’t find anything wrong, maybe Grace would outgrow her symptoms and this experience would just be another story like ones we had heard of unexplained illness. We were discharged and scheduled to come back in a few days for more blood work and a GI consult.
When we were home things were still not right. Grace continued to cry for seemingly no reason and was more and more difficult to console. Her feeding difficulties also worsened and it seemed that our whole day surrounded either soothing Grace or trying to feed her. The neurologist called and said that the next disease he would be testing for was called Krabbe’s disease. I had never heard of it before and immediately did an internet search. I was stunned by what I found. Everything I read described a truly horrible disease that would mean certain death for my baby girl. I was in denial and swore she didn’t have it. Alysia then looked online and found a website about a little boy named Liam who had died from Krabbe. She saw the similarities in the stories and was petrified and devastated; she knew she had found the answer.
A few days after our first hospital visit Alysia and her mother took Grace back to the hospital for the Krabbe’s test blood work. Another awful experience. It took numerous tries and staff to collect the blood needed. The few days between hospital visits and waiting for the Krabbe’s blood results to come back were excruciatingly long. We started to grieve while praying we were wrong. We looked at our baby girl with beautiful blue eyes and the hair of a two year-old and couldn’t believe this was happening. We were scared and wondered how we were going to take care of her. We also asked each other how this could be happening to us again. I had lost my mother to cancer when I was seventeen and Alysia’s brother had been killed in a car accident just five years earlier. We pleaded, “It just can’t be. Please, it can’t be. Please.” Grace was our new joy to help us move beyond our previous grief. She was our reason to smile, laugh, and live again. What did we do to deserve this?
We went back into the hospital for the GI consult and temporary NG tube placement, to supplement Grace’s bottle-feeding to ensure she was getting enough calories. We were told that we might learn the results of the Krabbe test while we were there. Grace got her NG tube placed and we learned about feeding her with the tube. We read all that we could about Krabbe disease and waited.
We sat in that room playing with Grace knowing in our hearts what we were going to be told but still holding out hope. When the neurologist walked into the room I don’t think I even looked up. He said, “There’s no easy way to say this, the test came back positive for Krabbe.” I was surprised how little I actually felt when he said that. Some weeks later it dawned on me how ridiculous it is that in this country, in the 21 st century a doctor would walk into you room and tell essentially that your child is terminally ill, there is no treatment and that the best you can do is to go home and make them comfortable. It was totally unacceptable to me but I could do nothing about it.
We were shown a research article about experimental treatments involving stem cell transplants for children with Krabbe and encouraged to try and enroll Grace. The study described did not seem promising. More than half of the subjects died within 90 days from the chemotherapy required to transplant the new stem cells. Of the remaining subjects, the ones who fared the best were transplanted within the first two weeks of life. We soon learned that those were children whose parents had already lost a child to Krabbe disease and knew to screen their future newborns. Although Krabbe disease is very rare: 1 in 100,000 births, two parents who are carriers have a 25% chance of reliving this nightmare with each pregnancy.
We were discharged, encouraged to contact the transplant team at Duke University, and told to keep Grace as comfortable as possible. Unfortunately, we were not told anything about what to expect as Grace’s condition progressed. We were not given any suggestions about how to keep Grace comfortable. We were not offered any prescription medicines to remedy Grace’s current or future symptoms. We raced home in the pouring rain to receive the feeding pump that we didn’t know how to use, as the last delivery of the night.