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| Little sleeping NICU Baby |
As you know Ethan spent his first 7 days in the NICU. He was initially admitted due the respiratory failure at birth and his inability to maintain proper oxygen levels. Shortly thereafter he had a swelling in his fontanel which was concerning to our attending NICU physician. It was due to this swelling that he received the overwhelming majority of his tests: MRI, CT Scan, and Spinal Tap. All of these reports came back negative. And then, on its own, the fontanel went back down to normal. During all of this he was having trouble eating and he was extremely fussy. I chalked the fussiness up to all of the tests that were being run on him, but I guess even despite the plethora of painful procedures and tests, his fussiness and lack of eating was more unusual than most NICU babies. So, needless to say the Doctor was having a hard time accepting this combination of symptoms without having any explanation.
This long introduction is to give the back story for this letter to our NICU doctor, who just knew something was wrong. Who just knew Ethan was different. Who didn’t have that one vital piece of information. I don’t know if many NICU doctors ever get to find out what became of their patients. If this doctor is anything like me, the ones that leave with no explanation would be a hard thing to accept. So this letter serves several purposes – it serves to make an apology for my obvious frustration, it serves to acknowledge her good judgment and to provide her with information that may assist with any future patients who have similar diagnosis. (I left our her name for confidentiality.)
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- Conversation started April 14
Katrina McCullough
Good Evening!
I hope this letter finds you well. I don’t know if you will remember us – our son Ethan Jay McCullough-Byrne was born March 8, 2013. He was admitted to the NICU having been resuscitated minutes after delivery. Shortly after being admitted his fontanel began to swell. Ethan was also noted as being abnormally irritable and having difficulty eating.
He was given a number of tests, including an MRI, a CT Scan, and a spinal tap. All of which came back negative for the purposes of their specific tests. This was a relief to us and I know a cause of concern to you, as with no explanation his problems were impossible to accurately diagnose and therefore impossible to treat.
By the 7th day he was eating his quota of 40ml every 3 hours and had otherwise returned to a normal healthy state. I could sense as we were being discharged that you were uneasy about us leaving without ever having determined what caused the apnea, the swelling, the irritability. At that point I was ready to chalk it up to “one of those things” and move on. But this letter is to acknowledge you for your instinct that something was just not quite right about our little man, Ethan.
Before I go further let me assure you Ethan is alive and thriving. And we are so grateful to your team for that! As time went on I too began to feel like something was inherently wrong with my son. It wasn’t until he was between 6 and 7 months old that we received the final diagnosis, Joubert Syndrome. In fact, it was the same MRI taken during his 2nd day of life that we sent to a Joubert study being conducted at the University of Washington that confirmed this diagnosis. We did have a 2nd MRI completed at the Children’s Hospital when Ethan was 8 months old to double confirm and the results should be on file.
We know Joubert Syndrome is incredibly rare, from what I’ve seen less than 1,000 documented cases worldwide. Its very rare for us to find a doctor that has had a patient with Joubert other than Ethan. So we’re somewhat on our own with this. In hindsight, Joubert can be linked in some way to every one of Ethan’s issues during his first short 7 days of life. The apnea, the fontanel swelling, the irritability and even trouble eating.
In conjunction with Joubert, Ethan has Ocular Motor Apraxia and a mild case of Hypotonia. He also has respiratory issues and we have him on a daily dose of montelukast.
Ethan does Physical and Occupational Therapy a combined 3 times per week. He seems to have a mild case of this rare disorder and we did catch it so early– so we’re hoping that even though life is never going to be “easy” for our little trooper, we can afford him the same experiences as other kids and adults as he grows older.
The point of this letter is to first and foremost thank you for your earnest care of our son and to apologize for not trusting your judgment when you felt that something seemed off. The second is to provide information on this rare disorder that may help to both close the loop on Ethan’s strange sequence of events, as well as to potentially serve future families should another similar case ever happen. Even though Joubert is quite rare, it has recently been connected to a whole group of neurological disorders known now as Ciliopathies - so we're hoping it continues to garner more attention, more funding and hopefully more treatments.
Thank you again from the bottom of our hearts!
All Our Best,
Katrina McCullough, Terry Byrne and Ethan Jay McCullough-Byrne
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