Letter to our NICU Doctor - Who was right!

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
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  4/14, 9:56pm
  

  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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How the Diagnosis of OMA affected Terry and I

Receiving the diagnosis of OMA (Ocular Motor Apraxia) was wrought with very mixed emotions. Prior to the diagnosis I knew something was wrong. Ethan wasn’t engaging with us – he wasn’t reaching for toys, he wasn’t looking at us or looking at other people.  I hate to admit this, but I began fearing going out in public with him. People can be horrifically abrasive and judgmental – I literally had strangers AND good friends alike wave their hands in his face, snap their fingers in his face, clap their hands in his face, all in vain attempts to get his attention. I was embarrassed because it was only further confirming my fears and I was angry that people would be so unremittingly rude.

I was also afraid to hang out with close friends who had kids themselves because I felt like with Ethan’s obvious delays, especially when sitting (or laying) next to my friends’ fat and happy babies, it was more like a giant neon sign pointing out my son’s condition. And that really only made me feel so much worse. I needed companionship and support, but I started really becoming more of a recluse for a while. 

And then I started back to work, which was devastating for me. Terry stays home with our son part time and part time we have him in a lovely, lovely daycare.  At work people were gushing, asking for pictures, asking me all about it… but I could barely talk about him.  I wanted to say all positive things about him, but it was clouded over by how scared I was that things were really, really bad.

Our whole family -
doggie included

It really wasn’t until I received the diagnosis that I could catch my breath a little. At least I had something that felt tangible. There was a picture to look at it. There were milestones to meet. There were steps to follow. Don’t get me wrong – I cried for about 2 solid days and buried my brain in online research… for better or for worse. I read forum posts, blog posts, research papers, and I joined a Facebook group for people or parents of people with OMA. Some of what I read made me feel truly inspired, and some made my heart break so profoundly. The long and short of it is that OMA and Hypotonia are certainly not the worst things in the world, but they’re not nothing. They’re challenging. It’s going to be hard.

So how do I feel now?

Honestly, I am pissed off.  I am angry. First off, I am angry for myself. Everyone around me has been having kids like crazy, as if a memo to procreate was sent out to everyone and somehow missed my inbox. All the babies around me are happy, healthy and it is so hard to be one person whose precious little guy has challenges. I am the only one who has to take my son to a geneticist. I am the only one who has to take my son to physical and occupational therapy. I am the only whose son won’t look us in the face or reach to be picked up…  and it makes me mad because that is all that I have wanted for so, so long. And I know life isn’t fair, but really… this was the one time it should have been.

And I’m angry for Ethan. I’m mad that life is going to be challenging for him. I’m mad that reading may prove to be tiring for him. I’m mad that he’s going to have to work harder than other people around him to do the same basic things. I’m mad that he may get bullied (and I will turn into one crazy Mama Bear if I ever see that happening…). I’m mad that he may not be able to play all the sports he wants to play. I want everything in life to be amazing for my son, and I’m mad that I can’t make it be easier for him.


But you know how else I feel? Joyous. Grateful. In love. In awe. And Charmed… Ethan is one of the most charming lovable babies I have ever known. Everyone who meets him takes an immediate shine to him, and everyone who knows what he’s going through asks how they can help. He is going to have a way with people, I can tell. He is a Pisces after all… He is so quick to learn new things, and he loves to absorb, to discover and to try. I am so proud of him every day. Wherever we end up after all this craziness, I know I am going to be so proud of the man he is going to become.

Ethan's 6 Month Photos - He's a Charmer! :-)

How does Terry feel?

I have never been able to sit down and get him to write for this blog... but I will say this about Terry - he's an absorber. He absorbs all that is going on around him. He's not quick to react. He doesn't blow up or fall apart. He doesn't brush things off. He lets me run through my range of emotions as he waits for game-plan we'll eventually put together. He's so smart and so kind. He does let me be the sort of front-runner, the planner and the researcher. I think mostly he trusts that I will keep the ball moving forward and in the right direction. But I don't actually do anything without thinking it all through with him. We're a team. And, quite frankly, we're a good team.


So – we’re going to be ok. Ethan going to grow and develop at his own pace. And Terry and I are going to do everything we can to be there for him; to remove all the obstacles within our control; to encourage him and always make sure he feels secure, confident and loved.

Our unique little family

Lastly, I want to make sure I don’t get caught up meeting the milestones and miss the moments. Before all this, I really had one month of just enjoying my baby. If you think about the timeline: he almost died at birth, he was in the NICU for 7 days and by his 6th week I already had the feeling something was wrong.  On top of the developmental delays Ethan was so fussy, he was really underweight and on reflux medication – it felt like I could never catch a break with him. I rarely just sat and played him, basking in his baby company. Because of that I completely missed out on just enjoying my little tiny man get bigger and bigger. I know every parent goes through this on some level… but now that I have a sort of “handle” on things – I am going to work hard to enjoy all the little moments. It’ll go quickly – whether I’m paying close attention or not. Might as well be as present as possible. :-)