Noah Smith

First post: 8/2/2017 Latest post: 6 hours ago
We first noticed something wrong with Noah's face when he would cry, around June 5th/6th, 2017. On Wednesday, I contacted our GP (family doctor) to ask if Noah should be seen for it. They weren't sure what could be causing his face to act funny. One of the nurses mentioned Bells Palsy and also asked if he'd been bit by a tick ... ultimately, they said I should talk to a licensed Pediatrician - they recommended I contact Springfield Hospital ER when Jeremy got home from work (because we only have 1 car), to ask an on-call Pediatrician what we should do ... I spoke with their on-call Pediatric nurse, who said it doesn't sound urgent, but that we could bring him in to the ER if he starts acting abnormal or if he's not eating, etc, or we could call in the morning to schedule an appt with them ... I opted to call in the morning ...

On Thursday morning, we got an appt to see a Pediatrician at Springfield. He wasn't sure what was going on, but thought it might be Bells Palsy, which he explained isn't too uncommon in babies, but usually happens due to a traumatic birth (which he didn't have), and can typically go away on its own ... we should have pursued it more but were satisfied with his explanation ... later that day, our Visiting Nurse came and I immediately updated her with the new symptoms ... she looked him over and was concerned that we didn't have any solid answers, and also pointed out a few other physical signs she was concerned about, including that his eyes would "flutter" sporadically - she called it nystagmus ... She thought on it that night and first thing on Friday, she spoke with someone at Dartmouth, and between them, they agreed that Noah should be brought to their ER to escalate his care ... so, that morning, I dropped Jeremy at work and took the kids to the Dartmouth ER ...

We arrived at the Dartmouth ER around 11am ... I didn't expect anything too serious and thought we'd only be there for a couple hours at most ... they determined an MRI scan was appropriate, but they couldn't get him in until 445pm, and we couldn't go anywhere in the meantime ... so, we spent all day in our ER "room" ... Alyssa (3 yrs old) and I couldn't be with him when they did the MRI, so we waited for him in the ER room (she was amazingly good the whole time!) ... the MRI found blood on the brain but no nerve damage ... unfortunately, that meant Noah would be admitted to the PICU (Pediatric ICU) and we'd stay overnight for observation ...

Saturday we got moved out of PICU to the Pediatrics floor ... good news, but still no answers as to why his face was acting funny, or why there was blood on the brain ... unfortunately, because there was "unexplained head trauma," they had to get Child Advocacy involved ...

Sunday they did their "CAP workup" which involved a skeletal survey & xrays to make sure his bones were ok and that there weren't any fractures anywhere ... and based on initial review, they took Child Services "off the table" - they agreed that this wasn't a result from abuse ... unfortunately, being the weekend, there was little staff to help determine what was going on, so we waited for the next day, when someone could look at all of the test results, xrays, ultrasound, blood & urine, etc ...

First thing on Monday, I was brought to a conference room with 5 or 6 people - doctors, intern, student, and social workers ... this is where I got the news ... we have a diagnosis ... they are 99.9% sure that this is "Osteopetrosis" [os-te-oh-pi-TROH-sis] ... it's an extremely rare genetic bone disorder that causes the bones to close up so that the marrow can't grow ... as a result of this condition, the bones become very dense and brittle, and some nerves can be pinched, which could have been the cause for his "facial droop" and nystagmus ...

The only cure for Osteopetrosis is a bone marrow transplant, so Noah was transferred to Boston Children's Hospital on Wednesday, June 14, 2017, where I have been staying with him. Daddy and Big Sister have been at home, trying to live a somewhat "normal" life and coming to visit on the weekends when possible. Noah received his new stem cells on July 26, 2017 and as of August 1, 2017, he has been in ICU due to breathing complications as a result of the mucousitis - a typical side-effect of the Chemotherapy and BMT.

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