Joubert Syndrome – Finding Silver Linings

After my last blog – this being my own form of achieving catharsis – it was brought to my attention that it made some people worry about me a little. It makes sense, as my mom tells me, it would appear that I am going the though the 5 stages of grieving:

1. Denial: For me it was not denying that he had Joubert, but denying that it could be as bad as it may be; hoping that at any given moment a switch would flip and he would just catch up.
2. Anger/Sadness: I have been here a lot
3. Bargaining: All the “If Onlys”… We didn’t have too many of these. Given the knowledge we had at the time there was no way we could have prepared for or prevented this. 
4. Depression: Oh yea – no stranger to this lately…
5. And finally Acceptance: I would say I am dipping my toe into acceptance – but I’m not 100% sure I am there yet. 

However… !

In an attempt to move further into acceptance I spent some time focusing on some of the uniquely good parts that come as a result of Joubert. Here are few things that are tiny sliver linings to Joubert…

• Cuddle time: Ethan does not have the capability as of yet to get up, crawl, run around – he is quite

  

  My little cuddle bunny
  at 4 months old!

  content to sit on my lap and play with my hair, my necklaces, sing songs, etc. He will lie next to me playing Peek-a-Boo. We can curl up and watch Baby Einstein or Disney movies together. If he could, he would sit happily in our laps for hours. It’s his favorite place to be. We are lucky that our baby cuddle time with Ethan will last quite a bit longer than normal. 
• I can get things done: Due to Ethan’s condition his world is very (very) small right now. It exists only in those things that immediately surround him. Because of this, I can sit him safely on a blanket surrounded by toys within his reach and then I can complete some tasks. It’s not just that he can’t move around, but he is truly content to sit and play with his toys for an extremely long amount of time. (I’ve heard this to be quite common in kids with Ocular Motor Apraxia and Joubert).  And I don’t have to worry about him because he isn’t able to go anywhere just yet. If I hustle – I can get half a day’s chores done while he’s still stacking his little blocks.
• Baby Proofing: I have done no baby proofing to date. No need…
• Clean House: Because the baby plays in such small spaces – the only mess in the house is mine and Terry’s.  And let me tell you - we rise to the occasion… it looks like 5 small children live in this house, not one who can’t even make a mess yet!
• When he does walk he’ll have common sense: It will take a year or two for Ethan to walk 100% on his own and maybe even longer before he can run… so the upside to that is by the time he does finally cruise around on his own he will have the common sense of an older toddler. He will still be clumsy I’m sure… but at least he’ll know more about staying out of trouble than a 10 month old.

Baby's first pumpkin patch -
6 months old!

There you have it. It’s not the world’s longest list – but those first two silver linings are enough in and of themselves! Of course I want him to walk, crawl, run, scoot, shimmy and shake! But I know when he does I will miss the time he was content to just in my lap sing with me, and I know I will be so grateful we had that time for as long as we did. 

My Son and Joubert Syndrome – Accepting What Is

Family Christmas in
San Francisco

I have been having a really hard time writing this blog lately – and I thought it was because I was busy. Busy with my beautiful son, busy getting Terry into college, busy with my extremely fast paced job, and busy with other things – birthday parties, travel, properties and trying to catch up with friends. But no – that’s not really it. I keep crazy hours and there is always time to write if I am motivated. No – the truth is I have never really come to terms with what is. I feel like I have pigged out on the smorgasbord of emotions, but up until just tonight I have not really accepted that “what is” cannot be changed. And I have to learn to not only accept it, but to continue to thrive in the wake of all we have been through and all we may have yet to face.

It’s interesting that this epiphany comes to me after a week of a deep depression, and the depression coming just weeks before Ethan’s first birthday. I have a colleague who had a baby just a month after Ethan was born. We were chatting it up at the water cooler and he told me what a trip his daughter is, how she walks into the bathroom with them in the morning and watches he and his wife get ready. She stares in the mirror alongside them and tries to mimic them. This was for all intents and purposes a super sweet and simple story. 

But it broke my heart. 

A big head makes
tummy time hard!

It broke my heart because Ethan isn’t even close to that. Ethan can’t walk, he can’t crawl, he won’t even roll over yet! He can’t focus his eyes enough to watch us, to look at what we’re doing. He can’t control his body enough yet to mimic our movements – more than clapping hands or banging on a table. He’s basically a 6 month old – but in a one year olds body.  I can’t get him to understand that he can roll over and crawl to whatever he wants. If something is out of reach for him he just cries. And I feel like every month the gap between where he should be and where he is gets wider and wider.  I solve problems – that’s what I do for a living. And I can’t solve this and its really, really hard on me. For Joubert – for Ethan, it’s just a little work every day, every day, every day. It’s patience. It’s persistence. It’s little rewards and a lot of labor.  I just wish I could pop into the future to when Ethan is 5 years old and see what his prognosis is - then I can just know and stop worrying about the unknown. But I cannot do this... I have to learn to be comfortable with uncertainty. 

The more I read about Joubert Syndrome the more awful I realize this condition is. For what we know now we lucked out with his condition being mild but I don’t consider us lucky. Joubert is one awful thing. In some cases Joubert is fatal due to kidney failure, liver failure, kids failing to eat, and/or respiratory issues. Some kids are fully mentally retarded. Some kids get fluid in the brain that has to be removed surgically. We will have to monitor Ethan constantly should one of any of those issues above rear its ugly head. And with Hypotonia he’s still mostly sedentary. And with Ocular Motor Apraxia his little head shakes when he’s trying to focus his eyes on something.  

And I look at my friends and family, who have so many kids between them and I can’t help but to feel so confused. I have spent years delighting in their children’s achievements and successes. Sharpening my mothering skills on their expertise. Waiting for the time that I could finally delight in a child of my own. And as I look back on this first year, I feel like I have been dragged across the coals. My joy hampered by fear. My excitement hampered by stress. My pride hampered by my embarrassment. Yes, embarrassment. It’s hard not to be a little embarrassed when you’re trying to explain to other mommies at nursery school why their younger child is already moving to the “Wobblers” section and yours won’t be there for a long time to come. It’s hard in a one minute exchange to say, “My son has this rare genetic disorder called Joubert Syndrome that affects the part of the brain that controls balance and coordination. He’ll get there eventually.”

My Christmas
Charmer

But – when I think about what has hampered my love… well, my love was hampered by nothing. I love my son so very much. And I don’t just love him because he’s mine. I love him for who he is. He’s charming. And he’s funny. He’s inquisitive. And he does mimic us as best he can and he loves it when we mimic him. He enjoys other people and other kids. He’s actually built relationships with some of the other babies at school – genuinely happy to see them when they’re there. He likes learning new things. I can't help but wonder sometimes what Ethan would be like without that one stupid mutated gene - but that is a fruitless thought and I am reminded to be in the now and focus on the what is. And overall - I think he’s going to be a pretty awesome little dude. 

So here I am alone on Friday night because Terry is working and I’m watching “Steel Magnolias”… don’t judge. And I know what’s going to happen – Julia Robert’s character is going to die. And I think about Sally Field’s character – having to say goodbye to her daughter and I’m a total wreck. And I think to myself how utterly shattered I would be if anything ever happened to Ethan – and suddenly my depression is gone and I realize I just have to accept what is. I have to learn to live with fear and turn it into an action plan, I have to manage the stress and I have to get over the embarrassment. I can’t wait to see who this little man grows into. Ethan doesn’t know anything is wrong with him and I owe it to him and to myself and my family to make sure that I work on not letting things hamper my joy, my excitement and my pride.  He requires more work than the average baby – but hard work has always been my modus operandi. 

I love my little
joyful character!

So there you have it. It won’t be easy – I know I will get stressed, embarrassed and fearful again. But I will just have to try and get back to this moment – here watching Steel Magnolias – remembering Dolly Parton’s line - “Laughter through tears is my favorite emotion.”

I aim to be able to listen to those water cooler stories and be genuinely happy for other parents and their children’s successes. Because when I am truly happy and feel blessed for having Ethan in my life, I am able to be truly happy for everyone. And that is a good place to be. 

Ethan May Have Joubert Syndrome

Ethan about to go to
school!

So... remember a few posts back when I said we were waiting on the MRI results for Joubert? Remember how I said we really, really did not want Ethan to have Joubert? Well, we sort of got the results back.

What does "sort of" mean?

There is one key element they look for in an MRI called the Molar Tooth indicator, which is the final verdirct in Joubert testing. Unfortunately, several doctors reviewed it and his MRI (which was taken when he was 2 days old) was unclear. Therefore, they cannot definitively give us a yes or no answer.

Not Ethan's MRI, this was a sample
taken to show how they check for JS

However - there are several of other abnormalities in the brain that Ethan has that are linked to a Joubert
diagnosis. For those who geek out, this is the medical jargon sent to us that we're still piecing together: He does have cerebellar vermis hypoplasia, dysplasia (abnormal shape of the top of his cerebellum), and an abnormal configuration of his 4^th ventricle consistent with abnormal orientation of his superior cerebellar peduncles.  These findings are all seen in patients with Joubert syndrome.

At this point we have been advised to begin treating Ethan as though he does have Joubert Syndrome, which essentially mostly means Physical and Occupational therapy, which Ethan is already in.

What the heck is Joubert Syndrome?!

According to the Joubert Syndrom and Related Disorders Foundation, "Individuals diagnosed with JS have an absence or underdevelopment of part of the brain called the cerebellar vermis which controls balance and coordination."

What does Joubert affect?

Like Autism, Joubert has a spectrum ranging from mild to severe. Here are some of the things we can expect if Ethan truly has Joubert:

• Hypotonia - check, we know about this
• Eye movement issues - check, we know about OMA
• Impaired coordination
• Intellectual disabilities which can range from mild to moderate are pretty typical, but intellectual abilities can range from normal to severely disabled
• Failure for the body to properly flush the kidneys and the liver

See the complete Fact Sheet:
http://www.jsrdf.org/PDF/Joubert_Syndrome_Fact_Sheet_06-03-13.pdf

What are the next steps for Ethan?

1. We have begun the paperwork to get Ethan tested by a geneticist, because of the range its important to know which specific genes were mutated, causing the JS. Note: The unfortunate thing about genetics testing is that it takes a long time, AND its not 100%. If he received negative results, that may mean the test didn't take and not necessarily that he doesn't have anything. However, my understanding is that positive results are accurate. Go figure... 
2. We are enrolling Ethan in the University of Washington Joubert Syndrom Study. These are the folks that are reading his current MRI and suggested we get a new one. Here is their link: http://depts.washington.edu/joubert/joubertsyndrome.php
3. We will schedule another MRI for Ethan, which scares me because they have to sedate him
4. We will get his liver and kidneys tested

What are the next steps for Terry and I?

Ethan playing in his
jumper after eating 

1. Cry, freak out, be sad, be angry, throw a pity party for ourselves and our son; mourn the loss once again of the vision of what we thought having a child would be like. 

After that...

1. Terry and I will get tested by a geneticist to see if we are affected or unaffected carriers of the gene; we both have to have the recessive gene but the level in which we have it will make a difference in the likelihood future children will have this as well. At this point the likelihood could be as high as 1 in 4... eeks..
2. Just continue to be strong for our beautiful son and for each other

And we have to remember - he may not have JS afterall. The chances are just really, really high right now. And if he does have it, he may have a mild case. I am sad also because I thought we were close to having everything figured out, but we're not - we're far from it. The journey continues.

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. :-)

Is something wrong with Ethan?

Or... Why is Ethan always looking to the right and to the left?

Baby Ethan* - 1 month photos

People always ask me, how is Ethan? And I usually respond, “He’s amazing. He’s doing great. Getting bigger every day. He’s such a love. We’re super happy.” 

However, what I wanted to say was, “I don’t know! I’m freaking out! He won’t look at us. He won’t reach for toys. He can’t really do much of anything. He’s like a blob. And everyone is telling me he’ll grow out of it and he’s fine – but he’s not fine. Not compared to other babies. I know he’s not fine and it’s terrifying me!”

I talked about my fears only to a small subset of people. Some of them told me there was nothing to worry about. Some of them agreed it may be time to get Ethan assessed. Terry and I agreed, which was ultimately the most important thing. It scared us both. This whole crazy plan to have a baby sort of took off in spite of us, which led us to believe this was all “meant to be”. But if it was meant to be, why was it feeling so broken? 

At Ethan’s 4 month doctor’s appointment his pediatrician finally wrote prescriptions to have his eyes checked and to have him assessed by a pediatric developmental center. 

Diagnosis # 1

Baby Ethan  with OMA -
looking to the right

We took Ethan to see a Pediatric Ophthalmologist. There was good news and there was bad news. Ethan has good vision. That was the good news. The bad news, Ethan has Ocular Motor Apraxia (OMA), which essentially means he cannot control his voluntary eye movement. 

Ok, this may not be such a bad thing… right?

What are the short term affects?

• Ethan will soon develop head thrusts, this will be his attempt to begin controlling his eye movement and this will continue for anywhere from 2- 10 years. (Please let it stop before Jr. High)
• Physical delays are extremely common. On average children with OMA begin crawling at 1 year and walking closer to 2 years. 
• Some children experience speech delays as well, though this isn’t directly related to OMA, but rather another shared symptom of what may have caused OMA in the first place
• Reading comprehension can be delayed 
• Some children experience learning difficulties 

What are the long term affects?

• In school Ethan may need longer to take tests, especially reading comprehension tests. Overall, he should NOT need special education type classes. His intellect itself should not be affected, just the time it takes to finish reading. 
• Ethan may have difficulty with sports such as soccer or football, where there is a lot of action happening on all sides. Children with OMA tend to do better at very linear sports such as baseball, swimming, wrestling, etc. As long as we can go hiking with him!
• Children with OMA tend to gravitate towards computers games and reading on the screen because reading the fixed width on the screen is easier for their eyes. 
• By the time Ethan is an adult he will have adjusted to his condition, and lead an otherwise normal life. Again, computers will be a good career for him because of the ease in working on the screen.  He will be able to drive, go to college, get a job, etc. 

How did Ethan get OMA?

We don’t know this for sure. We found out recently that Terry’s sister had OMA when she was a baby, but she seems completely fine now. She may have had a mild case. Because of the connection to Ethan’s immediate family we feel it may be genetic, however it can also be caused by a number of different factors. And it could even be genes triggered by outside forces. 

Is there a cure for OMA?

Nope. It’s so rare that it doesn’t even have the attention or funding. And I sort of understand that. OMA is livable whereas other conditions can be life threatening. However, it does mean life is going to be a little bit more challenging than we had otherwise anticipated.

Diagnosis #2

Ethan and I at Disneyland,
he's looking right again

The day Ethan turned 5 months old we had him assessed by the Stramski Developmental Center. He was diagnosed with severe Hypotonia. Hypotonia means decreased muscle tone. Even at rest, most people have tone, or tension, in their muscles. Basically, it means Ethan is all squishy and floppy, and he has trouble holding his head up (which he might have anyway because his head is huge!). 

Note: This is not the same as having decreased strength – as Ethan is actually quite strong. Low tone means a lessened ability to contract or co-contract muscles. Reaching up or reaching for toys, holding on to toys, pushing himself up, etc. are all very difficult for Ethan. 

We had him assessed using the common Bayley III assessment method. It was somewhat painful to watch. For fine motor he's 80% delayed, for gross motor he's 47% delayed and for receptive language he's 90% delayed. Thankfully, cognitively he was only a few weeks behind, which was a relief. 

Is there a cure for this at least?!

From what I have read the cures are largely dependent on the underlying cause of the Hypotonia. However, from all the message boards, chat rooms, blogs, and Facebook pages I have joined – most parents said that with early intervention their children’s score improved incredibly quickly. 

In fact, the woman who did Ethan’s assessment gave us a set of exercises to do at home with him. Terry and I make sure he does all of them 2 -3 times per day.  In just two weeks he’s sitting up better in my lap, beginning to reach for toys, holding his head up stronger, and he’s able to roll over from his stomach to his back now!

So what’s next?

Taking Ethan to the
Geneticist!

1. After we had Ethan assessed we made an appointment with a Geneticist  to have all of us evaluated. That was a very positive meeting. They definitely confirmed OMA and Hypotonia, but didn’t feel the need at this point to do further genetics testing.
2. We sent Ethan’s MRI to the University of Washington’s Joubert Study.  Joubert Syndrome is a super rare genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination. In some cases Joubert can cause liver and kidney disease and children with Joubert can also be severely mentally delayed. We DO NOT want Ethan to test positive for Joubert.  If Ethan does indeed have Joubert, we will go back to the Geneticist for additional testing to find out where Ethan is on the spectrum. Luckily, the Geneticists did not feel like Ethan had Joubert based on his cognitive abilities and the advancement in just two weeks of the home therapy Terry and I were doing.
3. Ethan begins a rigorous twice weekly Pediatric Physical and Occupational Therapy regiment beginning next week.   Early intervention is key! We will repeat the Bayley III Assessment at 11 months of age to see how he is improving. 
4. We will go back in 6 months to see the Ophthalmologist, have him repeat the Bayley III Assessment, and re-review with the Geneticist.
5. When Ethan is Kindergarten we will likely begin therapy for his eyes as well. This will not be to cure the OMA but to help him with simple workarounds to make life easier.

What is the difference between Pediatric Physical and Occupational Therapy?

Working on our tummy time!

(Only because a few people asked me this and at first I didn't know how to answer). Both disciplines look at muscle tone, strength and flexibility, but in different ways. For OT they focus on fine motor skills, using hands and fingers. They also deal with thinking skills and sensory skills, such as emotional and behavioral reactions.  PT focuses on mobility and gross motor skills – so more crawling, standing, tummy time, etc. Both are very important for a little lad as behind as Ethan. 

Outstanding Diagnoses’

There are several additional diagnoses’ for which we are either waiting for feedback or waiting to perform the diagnosis based on age:

• The results of the Joubert Syndrome MRI review – fingers crossed that he doesn’t have it
• The Geneticist did recommend we do an ultrasound to check Ethan’s kidneys – although at this point he’s fairly confident that they will be ok.  
• Cerebral Palsy test in a few months – though we don’t think he has this anymore because kids with CP are more rigid and he’s just floppy
• Autism test at 12 months. We’re feeling ok about this because Ethan does laugh, babble, anticipate his bottle and food. He does interact with us. He doesn’t look at us well – but that’s most likely a result of the OMA. 

Whole family at Disneyland, Ethan
looking to the right again!

So – that’s where we are in a nutshell. I will talk more about how this has really affected us in the next blog post. I know I just threw a lot of facts and information at you in this blog – but here’s a taste of what we’ve been sifting through ourselves these past few months. I won’t lie – it’s been really hard. But like I handle all things in life, I’m taking this just one little step a time. Thank goodness for Terry!

*Picture courtesy of Sandee Lynn Photography

7 Days in the NICU

Our tough journey did not end for Ethan after he began breathing again in the delivery room… it remained challenging for several days.

Day 1 – Oxygen Levels up

Terry with Ethan - Day 1 of
the  NICU

During the first 24 hours Ethan was having trouble keeping his blood oxygen levels in a safe range – they had him hooked up to oxygen monitors and oxygen. He had an IV to keep his fluid levels up and to administer antibiotics in case it was a bacterial infection that had caused his low oxygen levels. He was given a little colostrum so he would start getting the nutrients he needed. He was in a high risk room with babies having breathing troubles.

Day 2 – Swelling in his head

Holding Baby Ethan -
Day 2

It was during day 2 that the doctor noticed that Ethan’s fontanel had swelling in it. She told us this could be any number of things, from a bacterial infection to a virus, to fluid in his brain. So the tests began. He was already being tested for a bacterial infection, so the next was to check for fluid in the brain. He was scheduled for a CT Scan. The CT Scan was negative. He was scheduled for an MRI. The MRI showed no fluid in his brain.

His Oxygen levels steadied and remained in the safe range for long enough to remove his oxygen.  I was told in the NICU they woke, changed and fed him every three hours 24 hours a day. I was there most of the day anyway. Even at the midnight, 3am and 6am feeding… I didn’t miss one!

Day 3 – Spinal Tap

Poor little NICU baby - so many
tests!

The last thing to test for, since the CT Scan, the MRI and the bacteria tests all came back negative was for a virus. This was hard for me, but we signed off on the Spinal Tap. To this day I don’t know if that was a good decision or not. The Spinal Tap came back negative.

Ethan was the fussiest baby in the NICU – he cried unless he was being held and rocked. Between the CPR, the swelling in his head, and the IVs, et al… I’d be fussy too! Apparently this was another “Cause for concern.” The doctor decided she needed to bring in an Occupational Therapist to assess him.

At the end of day 3, suddenly, just like that, the swelling started going down. Ethan was moved to a slightly lower risk room of the NICU, which essentially meant less nurses per baby. For me it meant a step in the right direction. We were given a goal – to feed Ethan 5ml and then to raise it by 5 ml every three hours until we got to 40. You know how I love goals… apparently Ethan does too. :-)

Day 4 – No more tests

Sleeping NICU baby

At this point Terry and I started feeling like Ethan was really getting better. He was eating better and better. I was really starting to feel pretty confident we’d be going home soon.  The Doctor was concerned because there was no “cause” for his ailments. At the time I didn’t really care – he was getting better. Now I think I care a little more… but I’ll talk more about that in Post #4.

They moved Ethan to the “Healthy Baby” NICU… the place where most of the babies go right before they’re discharged. We loved this NICU – we had a little section all to ourselves. Ethan was given a new goal – eat 40ml every 3 hours. Has anyone ever tried to make a newborn do exactly what you want him to do? This goal was attainable, but frustrating! Sometimes he would eat like a rockstar, and sometimes he would barely get through 10 ml. It sounds silly now, but it was so incredibly nerve racking. Our ability to take our son home was completely 100% based on his ability to complete this task.

And then someone from Social Services came to talk to us, which we were told was just procedure. I’m sure Terry and I were one of her better visits that day. We may be unconventional but we’re pretty darn normal. Still, it was unnerving – having someone who has the ability to exert control over decisions regarding your family asking such personal questions.

Little man doing better...
just want to take him home!

At this point I was getting kind of annoyed – he was doing so well, I just wanted to take him home. I was tired of sticking to this schedule, I was tired of asking permission to take my son out of his pod, I was tired of being told how to feed him, change him, rock him… I was tired of being under the microscope. I was ready to start feeling like a “mom”…

To make matters worse, this was the day the Occupational therapist came to assess Ethan’s “mood”, if you will. (How does a 4 day old have a mood?!) However, she came just 20 minutes after they moved his IV for the third time! Now he’d had his IV moved from one hand to the other, and since he was out of hands they moved it to his foot! He was a basket case, fussy and crying. The Occupational Therapist began writing up her report and I lost it. I told her it was completely unreasonable to assess my son on his behavior such a short time after enduring more pain. She agreed to come and do a follow-up assessment later that afternoon. She did, and as luck would have it he was as pleasant as pie. Finally I had a win!

I was discharged myself this day, which freaked me out to be going home and leaving Ethan, but we were able to stay for 2 additional nights in the Children’s Hospital overnight rooms for families.

Day 5 – New NICU, New Challenges

Little sleeping baby boy!

Ethan would sometimes do well and sometimes miss the mark on his 40ml per 3 hour feeding schedule which again was frustrating. Plus, while all the nurses were wonderful, they were all different! One would tell us it would be better if we let the nurses do the feedings. Another told us we wouldn’t be able to take him home if we couldn’t do it ourselves. One told us we should use a smaller nipple size for the bottles. Then we found out we couldn’t take him home if he wasn’t eating out of the bigger nipple size bottle. One nurse told us we could take him out of the pod ourselves. Another told us not to touch anything. We felt a little whiplashed!

JUST TELL ME WHAT TO DO! I’LL DO IT. I JUST WANT TO TAKE MY SON HOME!!

And then Ethan had his circumcision… well guess what this meant? He was fussy, in pain and didn’t feel like eating. They told us it would be at the minimum another 24 hours because he hadn’t met his quotas.

But – Ethan’s IVs were finally removed and he was given an open Pod to sleep in. We were so close!

Little Luminescent Eyes! Already he had endured so much!

I think this was the night I finally let the pain, fear, joy, anger, frustration and lack of sleep take its toll on me. I had a nervous breakdown in our little family room and bless Terry’s heart – he just held me while I cried. This is sort of how I operate… I run myself past the point of exhaustion, I completely fall apart, and then I’m all better – ready to hit it again. Terry, as usual, was my rock!

Day 6 - Smooth Sailing

Midnight feeding - so close
to going home!

This was the day I knew everything was going to be ok. The Occupational Therapist came to visit Ethan
again and he was just a doll. He ate like a champion. He slept great. We finally got to dress him in his baby clothes… but everything was sooo big on him!! He was just a little tiny thing weighing only 6lbs 7oz.

Unfortunately we weren’t able to stay in the hospital for anymore nights… we had to spend the night at home. It was so hard. But actually, finally sleeping in my own bed was just what the doctor ordered.

Day 7 – Ethan Comes Home!

Dressed and ready to go!

I spent this entire morning treading carefully on eggshells… I didn’t want to say or do one tiny thing that might make the doctor feel that Ethan needed to stay for more time. She was hesitant to let him come home because we never did find out what caused both the low oxygen levels and the swelling in his head. Like I said, at the time I was content to accept it as “one of those things” and just get him home!

We watched a video on infant CPR and the Heimlich. We took a test and passed. We dressed our son. We filled out many, many forms. We held our breaths. We shook hands and gave hugs.

We went home and started our life together!

GOING HOME!!

One special Thank You

I do need to give a very special thank you to my mother and my stepfather, John. They spent the entire week at our condo, taking care of the dog, cleaning as needed, and bringing us food. We didn’t give one thought to what was going on back home… Terry and I had so much on our plates at that time I don’t know what we would have done if we had to think about the homestead as well. Thank you so much!! We love you!!

Next Blog - #3 So What About Terry and I?!

Future Blog Posts- Stay Tuned

#4 Why are Ethan's eyes always looking to the right or left?

What happened during delivery and how come I didn’t announce Ethan on my blog?

Hello Everyone! My my my - how long it has been! Most of my close friends and family know all of the recent goings on:

• Terry and I are still a couple 
• We had a baby boy, Ethan Jay McCullough-Byrne, born March 8, 2013, 6lbs 13oz, 19.5 inches long
• He was in the NICU for 7 days (although most don’t know exactly why)
• We’re all home now building our life together
• I went back to work at 3.5 months, and Ethan spends half his days with Terry and half at a daycare

So – why the need for a blog?!

I’m going to unveil the reasons for both taking a 5 months hiatus and the reasons I feel the need to start writing this blog now more than ever. However, I’m going to unveil it over the next four blog posts. (Four seems to be my lucky number!)

Blog Post #1 – What happened during delivery and how come I didn’t announce Ethan on my blog?

All smiles about to get
my surgery!

This is to answer some of the questions I received about why we didn’t have that big beautiful announcement plastered all over our blog. I don’t think I’ve ever been shaken to the fundamental core of my being as I was during March 8, 2013 at 8:05am. Here is the story of Ethan’s birth.

I had a cesarean. Ethan came out and was fine for about 10 seconds and then stopped breathing. We’re not entirely certain why… he coughed and then he basically went into shock and just gave-up. I figured this was normal at first – and then the whole energy in the room changed. The nurse, who had been so happy-go-lucky during pre-op switched her persona. She got very serious and made a phone call. I heard her say, “We need you down here right now.” Ethan wasn’t crying. I was completely silent – just waiting for everything to click and be ok. It didn’t. Suddenly I heard the nurse say, “Oh shit.”

At that point I completely lost it. I started crying – asking what was going on. No one answered me. I could see my Ob-Gyn’s face. He looked worried, panicked even. Then I started yelling, asking what was going on. The nurse started performing CPR. I just heard her repeating, “1 and 2 and 3 and…”. I started praying. The nurse made another phone call, “I mean I need you right now.” At this point I was hysterical. I knew what was going on… my son was being resuscitated. I was crying, praying and just saying over and over again, “please breathe baby, please breathe.” A team of people came pouring in. I don’t know what they were doing. I couldn’t see anything but there was commotion – the very specific dance of highly trained professionals working to save a very little human being.

 It’s hard to paint a picture of the scene accurately. I was still being operated on so I couldn’t see what was going on. Terry was holding my hand. He could see the operation in progress on one side and his son potentially dying on the other. No one was talking to us. No one was telling us it was going to be ok. No one was speaking at all, except for me and the nurse. She was just repeating, “1 and 2 and 3…” and I was just repeating, “Please breathe baby, please breathe.”

This lasted almost 3 full minutes. This was an eternity. It was so long, I had actually begun to mentally prepare myself for the worst. I was preparing to be told there was nothing that could be done. I was preparing myself to go back to postpartum without my son. I was preparing to walk into our nursery at home and cry alone. I was preparing to have to tell everyone that I had lost my son just minutes after he was born.

And then he breathes...

Our little son right after CPR...
but alive!

And then he started to cry. And it was like the room, which had felt like it was spinning out of control,

stopped and righted itself. It was like my heart was able to beat again. Terry muttered through stifled cries, “He’s alive, he’s breathing.” I started laughing, the only way I could release the fear which had threaded its way into every fiber of my person. And then Ethan cried louder. They wrapped him up and brought him over to us. He was so pale… he looked like a little bug. I have never been happier in entire life.

His breath was weak, so they had to take him to the NICU. Terry and I were alone while the doctor finished sewing me up. We were wheeled into recovery. They finally told us we could go to the NICU, but not me, because they couldn’t fit the gurney in there and since I had had an operation I could not get up, not even to be in a wheelchair. I told Terry to go, to be with our son. I was alone.

Wheeled by my little son,
but unable to hold him yet!

On the way to Post-partum they allowed me to be wheeled passed my son. I could not touch him or hold him yet. This was so incredibly hard for me. I was told I’d have to wait for about 8 hours and I had to be able to complete certain tasks before they would let me get up and get into a wheelchair to see my son. I told her, “If you need to me to run a marathon right now I will do it. Just tell me what to do – I have to get to the NICU.” 8 hours to the minute I was wheeled in to finally hold my amazing little man.

I will talk more about the whole NICU experience in the next post.

Finally - 8 hours later, holding
my son for the 1st time

Remembering….

Terry and I didn’t talk about what happened with Ethan for a few days. We had a new focus, making sure our son was healthy and getting him out of the NICU. But when we finally had the courage to re-group and share our individual experiences they were very much the same. It’s easy when looking back to think, it wasn’t that bad, we over-exaggerated it. But we did not. In the days following we spoke with both the nurse who saved our sons life and my Ob-Gyn – both of whom had shared that what they experienced with Ethan was very rare and incredibly frightening. Sure, some babies stop breathing when they’re born. Usually they are given oxygen, their airways clear, and they’re back breathing within seconds. We were told this was different. He flat-lined and was out of for so long. Just another minute or two and Ethan would not have made it. They would have called it.

After that, I couldn’t really think about it. I couldn’t talk about it. The faintest memory would make me cry. I pray no one has to experience their child getting CPR. So I folded up the blog. I didn’t have the energy. I posted on Facebook and I send texts to my close group of friends and family with pictures and updates. I highlighted the positive and tried to keep as much of the negative private.

And now, in true Katrina fashion I bare all – the good, the bad, the ugly, the beautiful and reality of everything we’ve faced since then. Unfortunately, like the beginning our road has continued to be filled with some pretty significant ups and downs.

Ethan's First Video!!

Next Blog Post – Blog Post #2: In the NICU and out of the NICU

Future Posts - Stay Tuned!

#3 – What About Terry and I?

#4 – Why are Ethan’s eyes always looking to the right or the left?