Physical and Occupational Therapy for Joubert – 6 months to 13 months

Learning to bear weight
on my legs!

My apologies in advance the for the lenght of the blog - I'm wrapping up 7 months of physical therapy and assessments all in one. Lots of people have been asking what Physical Therapy is like, how helpful it is, how Ethan has progressed. This blog will be really informational around what happens in Physical Therapy, and really getting to see an apples to apples comparison on how much Ethan improves every quarter from his first Physical Therapy assessment at almost 6 months old to his last one at 13 months. Enjoy!

Ethan began his first day of Physical Therapy  August 26^th, 2013 and his first day of Occupational Therapy 2 days later at South Coast Therapy in Cypress.  

What’s it like?

Let me prepare you for what Physical Therapy may be like if you go to a place like ours. It will be busy! It will be a fun, bright place filled with all kinds of amazing things for kids to walk across, jump on, run on, jump into, climb over, swing on, and so on. It’s covered in big pads, so kids can feel safe to try and try again. There are so many toys. There are mini obstacle courses. Stairs and slides. There are rooms with treadmills and bicycles. And there are so many kids! If you go the same time every week, you really get to delight in these other children’s successes as you watch them run for the first time, climb better than they did last week, complete an obstacle course for the first time. And trust me, it will be loud. It will be filled with laughter, with instruction, with tears (sometimes Ethan’s), and with parents chatting on about how well their child did between sessions… ok, that’s mostly me chatting – I can’t help it! J

Does Ethan like PT/OT?

Ball work is so much
fun!

Overall, honestly, I would not say it is his favorite thing in the world. It’s a lot of hard work and he is challenged quite a bit. Ethan, like his mother, doesn’t like to be forced into doing things. So even though some of the play he would otherwise find fine, when being forced to do it he gets a little crabby. I would say 50% of the time he enjoys it and finds the play time fun, and the other 50% though – he cries, fusses, refuses to play, etc.

We just keep working through it, trying new things, pushing through the tears. The important thing is not to get discouraged – if your baby needs PT or OT, they will get through the hard times. Over time some of the things that used to make him cry he now finds really fun… although some are definitely still not. Like tummy time. He hates tummy time!

Assessment 1: August 26, 2013 - almost 6 months old

They assessed Ethan doing the Alberta Infant Motor Skills (AIMS) assessment, meant for babies 0-18 months old. The AIMS is a measure of motor development for infants at risk for motor delay. The assessment consists of 58 items for which the PT or OT either marks the items as “Observed”.  There are four main categories and then different movements are grouped into each category.

Here were his scores:

• Prone (reaching, holding up head, crawling, etc.): 1 out of 21 possible movements
• Supine (Roll over, play with feet, etc.): 3 out of 9 possible movements
• Sit (Getting into sit position, putting out hand to prevent falling, twisting and reaching, etc): 2 out 12 possible movements
• Stand (standing up, cruising, walking, etc.): 1 out of 16 possible movements

On our fun swing!

Do the math - out of the 58 possible items Ethan was “observed” as completing only 7 of them. 7 out of 58! Now, the test goes through 18 months and he was only almost 6 months at the time, so he would never have gotten all 58... but 7??!! He was below the 5th percentile for his age. While he was 6 months old at the time he was the equivalent of about a 2 month old. Yikes!!!

Ethan was given 4 goals to complete within 3 months time:

1. Sit up for at least 30 seconds
2. Lift his head up more than 45 degrees during tummy time
3. Roll from supine to prone with minimal assistance
4. Bear weight through his legs for 30 second

Occupational Therapy

The Occupational Therapy assessment was part of the AIMS assessment above. If you remember from a previous post, Ethan was 90% delayed in fine motor skills based on the Stramski assessment. At 5 months old he was the equivalent of a 1 month old. This would not do! Ethan was given 4 OT goals as well to complete in 3 months:

1. Reach across his midline and grasp a block, passing it between both hands
2. Grasp a slow moving object with 75% success rate
3. Bang two objects together
4. Feed himself puffs using his fingers

I love goals!

Assessment 2: November 1, 2013 - 8 months

Physical Therapy New Scores:

• Prone: 6 out of 21 possible movements – 5 point improvement
• Supine: 7 out of 9 possible movements – 4 point improvement
• Sit: 4 out 12 possible movements – 2 point improvement 
• Stand: 1 out of 16 possible movements – no improvement :-(

I love playing with my
 beads!

He went from being able to complete 7 of the 58 items to 18! He more than doubled his abilities. Beaming, proud mom! At 8 months old this still put him at the equivalent of a 4.5 month old and still below the 5th percentile.  However, he had met 3 out of his 4 goals! The only one he really couldn’t do was to bear weight in his legs… he flat out refused to do it. I knew my mission!

New Goals:
1. Sit independently for 2+ minutes while manipulating a toy
2. Protect himself from falling by extending his arm
3. Roll from supine to prone with no assistance
4. Be able to be on all 4 fours for at least 30 seconds
5. Bear weight through his legs for at least 30 seconds

As for Occupational Therapy
He made significant progress towards each of his goals. The two goals he fell a little short on were reaching across his midline for a toy, and grasping a slow moving object. This last one is especially hard because of the OMA. Children with OMA can’t track moving objects well – so it had to be moving really slow. He only had one additional Goal:
1. Pull pegs from a board

3^rd Assessment (last one to date): April 8, 2014 - 13 months old

There was a bit of a time lag for this one since our insurance restarted in January the need to assess and request additional PT was not needed until April.

I’m going to do this in reverse now – Occupation Therapy:

He graduated! In January of 2014 it was agreed upon by both parties that Ethan had met all of his goals. He was going great – picking things up, banging them together, feeding himself, opening/closing toys, reaching for toys. Great job my little man!

Physical Therapy – New Scores:

• Prone: 10 out of 21 possible movements – 4 point improvement
• Supine: 9 out of 9 possible movements – 2 point improvement
• Sit: 9 out 12 possible movements – 5 point improvement
• Stand: 3 out of 16 possible movements – 2 point improvement

The ball pit!!

He now totaled 31 points! From 7 points to 31 points in 7 months… I’ll take it! He is now rated a 7.5 month old – he seems to trail about half his age. Really it comes down to him detesting tummy time. If we could only get him to tolerate it and build upon it we’d finally break the 5 ^th percentile. Oh well – he may just end up walking first and crawling later. He did meet 3 of his 5 goals completely – and 2 he met partially: protecting himself from falling and getting on his hands and knees for 30 seconds (he could only do this for 10).

Ethan can do other things not necessarily called out in the report, like pulling himself up to stand and walking with minimal assistance using a weighted toy push cart.

So What's Next?

Well – as you can see below we have a ton of work to do, so we upped his physical therapy to twice a week. Check out Ethan’s new goals for July…

1. When seating protect himself from falling
2. Independently get on all fours and crawl up foam stairs
3. Independently transition from laying prone to sitting up
4. Walk 10 feet by himself pushing the weighted toy cart
5. Cruise 2 feet along a table
6. Demonstrate independent floor mobility – rolling, combat crawling, or scooting

We have a lot of work to do - Wish us luck!!

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.)

*****

• Conversation started April 14
• 

  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

• 
  
• 
  

Ethan Turns One and hits the 10,000 Mile Mark!

Opening presents with
Grandma and Grandpa

It is one year to the day that my life was completely flipped inside out, turned upside down and spun on around its axis.  It has truly been a whirlwind of a year and while there may be things I would change if I could – I would not change the road I took to get here and the place in which we as a little family unit are right now.

This day one year ago was the best and worst day of my entire life. This was the day I almost lost my son forever (see August's blog post - "What Happened During Delivery..."), the day I finally got to hold him in my arms – the day I embarked on a journey the particulars of which I would never have been able to prepare for.

My little wonder boy Ethan has really endured so much -  in just 12 short months on this beautiful planet he has had the following:

• CPR
• 2 MRIs (the second of which required sedation)
• Cat Scan
• Spinal Tap
• Chest X-ray
• Blood drawn
• IVs in both of his hands and both of his feet 
• Daily nebulizations and inhalers 
• One 2am ER visit due to respiratory issues
• DNA swabs
• Ultra sounds on his kidney and liver 
• 6 assessments and reassessments on his gross/fine motor skills, cognitive ability, ability to communicate, and behavioral aptitude
• And a circumcision to boot! 

Happy Birthday to Me!

When you have a son with a neurological disorder it takes an army to ensure he’s as healthy as can be. Ethan has the following throng of specialists in his arsenal:

• Two pediatricians (we go so often we bounce back and forth between two women that we love)
• Neurologist
• Ophthalmologist
• Pulmonologist
• Geneticist
• Two physical therapists
• Occupational Therapist
• Site Therapist 

1 year photo shoot!

To say the least – we have been busy! But there have been so many wonderful things this year as well! Like the travel for instance. Ethan has traveled to so many places.  In one year - counting only vacations, not daily trips around town – Ethan has traveled 9,500 miles. And as I write this blog we are driving North for his one year birthday party – on our return trip he will have made it over the 10,000 mile mark.  Where on Earth has Ethan been traveling to, you may wonder?

• Road trip home to NorCal for Bisnonna Nedda’s funeral
• Road trip up the coast to meet our cousin Gavin, then up to NorCal again for Auntie Colleen’s college graduation
• Drove all the way to the Trinity Mountains for our family vacation
• Flew to Salt Lake City for Shuli’s wedding
• Drove to Temecula for beer tasting trip
• Flew to NorCal for annual Santa Cruz trip with the ladies to meet our buddy William 
• Drove to San Luis Obispo for Great Grandparents 60th wedding anniversary
• Flew to Denver for Great Grandmother Helen’s funeral 
• Drove to NorCal twice for the Thanksgiving and Christmas
• Driving to NorCal as we speak to celebrate one year of awesomeness!

Where shall we go
next?

What an adventure my son – and as Helen Keller said, “Life is a great adventure, or it is nothing.”  I look forward to the many adventures in the coming year – maybe a little less drama – but definitely an inspiring journey.

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. :-)