Noah's Story
Chapter 2: Diagnosis & The Beginning of a Long Journey
Per our visiting nurse’s recommendation, we took Noah to the Emergency Room at Dartmouth. We arrived around 11am. They initially couldn’t tell what was going on with him, so they decided to get an MRI. Unfortunately, they couldn’t get him in until around 4pm, so we had to wait in our ER bay until that time.
The MRI found that Noah had blood on the brain, but we didn’t know why. Unfortunately, that meant Noah would be admitted to the PICU (Pediatric ICU) and we'd stay overnight for observation.
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Saturday involved a lot of tests, including bloodwork, a spinal tap and an eye exam. One of the bloodwork test results showed that Noah’s Calcium was very low. This was alarming because, low Calcium (hypocalcemia) can cause seizures, which can potentially be fatal.
Later that day, Noah was moved out of the PICU to the general Pediatrics floor. This was good news, but we still had no answers as to why his face was acting strange, or why there was blood on the brain. Unfortunately, because of the "unexplained head trauma," they had to get Child Advocacy involved and the Hospital was required to do a full CAP workup (Child Advocacy & Protection) to ensure there were no other broken bones or reasons for concern. It was very stressful, but ultimately it’s what lead the doctors to a diagnosis.
​The CAP workup (including full skeletal survey), lead the doctors to a diagnosis of Osteopetrosis, a very rare genetic bone condition (1 in 250,000) that can be fatal within the first 10 years of life. Currently, the only known cure is a bone marrow transplant. Once they had a diagnosis, the staff at Dartmouth immediately started looking for a potential marrow donor, and began working to get Noah transferred via ambulance to Boston Children’s Hospital.
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We had ourselves tested to see if we could be Noah's donor, but unfortunately none of us were a match. (Big Sister would have been the most likely candidate, because she carries DNA from both parents.) The next step was to look for a donor with the registry at Be The Match. We're thankful that they found a match quickly, and thankful that the donor was very quick to respond to the call for help.