New School, New Achievements

I cannot believe my last blog entry was in June. We have just been doing so much traveling! But now, as we hit the end of August I find myself with my first free afternoon in months. I put Ethan down for a nap, took a brief nap myself, and now I am finally back to this blog that I missed oh so much!!  (P.S. I forgot how amazing naps actually are…)

Ethan's 16 Month Photo shoot

Well – I am bubbling over with excitement to write this blog entry as Ethan has just made leaps and bounds over the past two months. He is doing so well that I can even say in some areas he’s doing well for toddlers his own age… not just well for being a child with Joubert. Here are the highlights:

Physical Achievements

• Ethan walked from the backdoor to the front door with his little V-Tech Walker all by himself! I

  

  Ethan on the Treadmill!

  was there hovering in case he fell, which he does, but he’s learned to fall to his knees rather than flat on his face. Trust me, that in and of itself is a big deal!
• Ethan can pull himself up from the floor to the coffee table by himself!
• Ethan has learned to hold the coffee table and reach down to pick up a toy. This is also big because for months he would throw a toy on the ground, then just cry because he had no way of picking it up again. 
• Ethan can now push himself from being on all 4s to sitting up. Again – for a year now if he was on his stomach he basically just laid there and cried. 
• Ethan is eating with a fork! Not completely by himself… but he’s getting there. This was an additional requirement for him to move to the Toddlers section in school

Words Ethan Says: 

Walking with my cart!

Thank you, Love you, Daddy, Hi, Doggie, Yum Yum, Moo, and Who Who for owl sounds. (No Mama – Ethan still refuses to say Mama!! I’m trying not to take it personally!)

The reason this is so important to us is because many children with Joubert don’t begin speaking until much later and most with the help of Speech Therapy. There are some adults with Joubert who still don’t speak well, if at all. So this is no small concern of ours. Every word Ethan says with contextual accuracy is a giant leap for us!

Cognitive Updates

I’ll save the cognitive updates for another blog post when I receive his evaluation from the Harbor Regional Center. They gave him a whole host of cognitive development tests and he did very well!

Ethan’s New School Updates

Pensive little man!

So – to be honest for the first three weeks he was at his new school I thought I had made a terrible mistake. It was very far away and much more money per month – so to justify this I really needed it to be a remarkable difference. At first – I was underwhelmed. During the day there was really nothing that was cluing me in that he was doing any more and/or any better here than at his old school. And Ethan starting crying when we dropped him off – he NEVER did that at his old school. I was so stressed during this time I began getting tension headaches. I finally told myself to stand back, wait one full month without calling his old school, without looking for alternatives - just taking a break.

I had one saving grace, his therapist from Jr. Blind of America visits him once a week at this school to do exercises. I asked her honestly what she thought of this school, and she said overall she thought it was a better fit. This was the first step in trying to be more realistic and objective. Ethan definitely went through a period of adjustment, but just two weeks into that month I was giving myself, I noticed that he was doing better. A bit more focused. Stronger. They really work him out at this new school. And they separate the different age groups so the infant center is calmer. Overtime I was able to get there in time to watch them really engage in activities with him.

It’s still more money and farther away… but by the end of the month we felt that overall it was worth it so the tension headaches are finally gone! Phew!

Next Post

Up and down the slide!

So that’s us in a nutshell… a large, fast paced, wild and crazy nutshell. In the next couple of blog posts I’m going to write about his evaluations in PT and the Harbor Regional Center, but I’m also going to do a post about Joubert in general: what it is, the genetic aspect of it, how bad the extreme cases can be, where Ethan falls in that spectrum and what we’re planning on doing for our second child. :-)

Thank you to everyone for reading and commenting. You have helped get me through some rough patches. We’re definitely in a period of highs and high-fives!

Ethan Starts a New School

I love my daycare!

This Monday June 16th I had to move Ethan to a new daycare. This was a really difficult decision for me.  Ethan was already in a good daycare. They loved Ethan and he absolutely loved his teachers, but Ethan is in a really precarious stage of his little delayed development. He is cognitively not very behind his peers. In fact, I’m not even sure he is that behind at all – but is hindered by his lack of gross motor skills. I’m sure kids develop quicker when they can directly influence their environment.

“The door was open and then I closed it. The pile was neatly stacked and then I knocked it over. The floor was dry and then I poured my milk over it.” And I’m sure they develop quicker when they can feel consequences, “I touched this sharp object and it hurt. I knocked over that pile and mom got upset.”

Ethan has not had the opportunity to do either of the above – influence his environment or feel direct consequences in doing so.  He has simply maintained in his cushy life contently surrounded by the age appropriate items we put in his direct circumference. We try as often as we can to afford him experiences that other children have, things like walkers, push carts, etc. have been instrumental in his growth.

Ethan's little scooter - pulling
Mommy's cards down

He will also need speech therapy, so he may appear to be more cognitively delayed because he cannot communicate the same way that a child his age normally would. He makes cute, and sometimes not so cute, sounds. He babbles endlessly.

The point of all this supposition is that I really need to Ethan to be constantly surrounded by age appropriate activities – coloring, reading, blocks, shapes, baby puzzles, colors, etc. I need to him be standing as often as possible, cruising around, pulling things down, wreaking havoc and expanding his mini sphere of influence. This kid has no fear, I want to take advantage of that and throw as many challenges his way as possible.

So – what does this have to do with this daycare?

In Ethan’s current daycare there are two sections: Infant and Wobblers. Infants are babies 6 weeks to one year. After one year and once they can walk well, they transition to the Wobblers section, where they stay until 2 years old.  In the infant section there are many of the developmentally appropriate toys for babies – they spin, light up, make sounds, etc. However, in the Wobbler section they color, read books, have more buildings block type toys.

Time for a change

As we all know Ethan can’t walk – far from it. I pushed and pushed for Ethan to be moved to the Wobblers side. And then one day I simply went over during reading hour and set him right down on the floor to participate with the other kids. What I saw broke my heart, and kind of scared me – they all descended on him like a fun new toy. They saw him as a “baby” and they wanted to touch him, hold him, push him a little, “handle” him. Within seconds he was overwhelmed and started to cry. The teacher immediately picked him up, put him on her lap and kept reading. Then he was fine. But I knew we needed to make a change. He needed more mental stimulation than the infant section, where he spent a great deal of time playing with infant type toys by himself. But he was clearly too delayed for the Wobbler section, where others kids saw him as a baby even though some were right in his age group.

Where’s he going?

He started at a Montessori school that has a more tiered structure: Infants section until 14 months, Wobblers from 14-18 months, and Toddlers from 18 months -3 years. This school has clear goals to meet before any one kid is allowed to transition. They must be able to:

1. Walk on their own
2. Eat with a spoon (Ethan is actually getting much better at this)
3. Drink from a sippy cup (we’re about to make that transition soon)

Other things I like about this school:

Evening walk with my
parents and doggie!

• They will also teach Ethan sign language and of course, assist in potty training.
• It’s Montessori they will work directly within Ethan’s range of development, continuing to push him
• What I like most about this school is that because the goals are so defined, they work with each child to help them achieve those goals so they can move on to the next age group.

He is still starting in the infant section, and there is a chance Ethan may never be a wobbler – there is a chance by the time he walks, talks and eat with a spoon he’ll be over 18 months, even over 20 months, and will move straight to the Toddlers section.

Managing My Own Expectations

My boys walking
together

I’m nervous mostly because I’m afraid that I will put so much faith in this place that I will just expect to pick him up from school one day next month and he’ll come running over to me on his own two legs and shout “Mommy, I had such a wonderful day in class today – we read a book about airplanes!” And when he doesn’t I’ll be disappointed.

This place is obviously not a cure. But I do believe that every little bit helps. And while I loved his old school and would recommend them to anyone with a non-developmentally challenged child, I am counting on the individualized attention at this new school to help him increase his sphere of influence, challenge him and finally unleash the little troublemaker that I know is in there.

Ethan's May Milestones

I love horses now!

May was a great month for mommy and daddy – Ethan continues to engage with us more and more. It feels so, so, so good!

May Milestones

• Waves hi and bye – we’ve only been actually trying this for a month or so, he picked this up pretty quickly :-)

  

  I can reach!

• Reaching over his head with both hands – we’ve  been working on this since the start of physical therapy. This has always been particularly hard for Ethan.
• Reaching out for Mom and Dad specifically – We’ve been working on this since he was born!
• Successfully put shape blocks into the corresponding cutout  - at least 4 months of dedicated weekly work
• Cruised all around the coffee table by himself – 8 months of physical therapy
• He spins himself around while sitting - this is huge for us because any time that Ethan learns he can control his own direction to reach toys around him he becomes more motivated to work harder. See the video below! 
• Successfully eating with a spoon and putting the spoon back onto the plate (he can’t scoop his own food just yet) – we’ve been working on this for a few months now.
• He rode a horse! This was random and fun – he loved it. We’ll definitely get him up on a horse when he’s older
• And my personal favorite – he gives hugs now!!!!! We weren’t even practicing this per se, just one day I was hugging him as I always do and he hugged me back. Swoon!

Thanks for horsey ride Jr. Blind!

Thank you to our wonderful physical therapists and to the director of our preschool who keeps trying to keep him engaged during the day.  And thank you to Terry – who keeps me sane during all of this!

Owning the Milestones

Family fun day
at the Jr. Blind camp

It is a parent’s God-given right, neigh, duty to watch, record, celebrate, and unfortunately fret over their children’s milestones as they grow. Some little ones are right on schedule – a parent will read in a book that their baby should start babbling on a given week, and presto! The baby starts babbling. Sometimes kids are little behind and sometimes they shoot out ahead of the pack. In the end, they basically all are able to walk, talk, use a potty, stack blocks, drink out of a sippy cup and eat with a spoon.

Unless… you have a special needs child. First off you can just throw the existing milestone chart right out the window. Adios! Those are no good to you now. You have to create your own sets of milestones now – some are created by your PT, some are created by your own research and seeing what other kids with similar diagnosis can do, and some just by getting to know your baby and knowing what he or she can accomplish and when.

Now the normal milestones are not forced upon a child, they are generated based on the idea that all things being equal most children will accomplish these tasks during this range of time. It’s a little different with a special needs child. The milestones, while not “forced” per se, are definitely pushed ahead by loads of hands on exercise and instruction. That’s how I coined the term – “Own (or co-own) the Milestones”. As a parent of a special needs child, you co-own every milestone that your child meets.

I want to state that I am in no way taking away the important influence that parents have over so-called “normal” children. When your child hits those milestones it’s definitely in great part due to the environment you’ve created, the practice you've done, the love you give, and, of course, the genes you’ve bestowed on your little one.

With a special needs child however, there are usually hundreds of hours of work and multiple people behind getting your child to accomplish just one of the tasks on that milestone list – usually months and months after other kids in his age range. Here are some examples:

• Ethan couldn’t sit up without falling over until he was over 10 months old – 5 months of physical therapy
• Ethan couldn’t reach out his arms fully extended until he was 14 months old – 9 months of physical therapy
• Ethan didn’t begin cruising on his own until he was 13 months old – 8 months of physical therapy
• Ethan has not yet taken a single step without the aid of a push cart or a person. Just to get him to take a single step with a push cart took 8 months of physical therapy.
• Ethan has not crawled one single crawl on his own ever… we’re at 10 months of physical therapy and he just flat refuses to do it.
• Ethan cannot transition from one movement to another – sitting to kneeling, kneeling to crawling, kneeling to standing, standing to sitting (he just falls backwards), kneeling back to sitting. He needs to be physically moved from one to the other – 10 months of physical therapy and counting....

Congratulation to
us all!

So – when Ethan meets one of these milestones, I not only celebrate his achievement, I congratulate myself and I congratulate Terry on our achievement.  I also thank our parents, I thank his teachers and mostly I thank his Physical Therapists. It’s not a milestone Ethan has met, it’s a milestone we all busted our buns to meet together. We co-own it.

Because of this I am now going to do a monthly blog called Ethan’s Monthly Milestones, outlining the milestone achieved, the amount of time we’ve been working on it, the normal milestone date, the date we were aiming for, and the date accomplished. Also, we will give the appropriate thank yous to everyone who helped him accomplish his milestones.

And to end this I will thank everyone who keeps reading these blogs. You give me my own set of milestones to achieve! J

Ethan Turns a Corner

Who can resist this
smile?!

I have a list of on-going potential blog posts, and one of them was going to be called, “What I Miss the Most.” It was going to talk about all of the things I see my friends beautiful babies doing that I felt I was missing out on. What kinds of things you may ask?

Most things centralized around connecting and the necessity of engagement. The physical delays we had made peace with and we were working through. But I was not prepared for the emotional disconnection. Ethan wouldn’t make eye contact, he wouldn’t smile or reach for us, he wouldn’t respond to his name, he wouldn’t repeat sounds, or high five, or blow a kiss, or a reach for his nose. He wouldn’t hand toys back and forth, or hand us a book or really engage us in any other activity other than feeding him. He wasn’t interested in toys out of his reach, or really even seem to understand that all he had to do was roll, crawl, reach, etc. He was content alone in his small, precise world. He was so Zen he was almost transcendent.

And I was sad. Terry and I began to fear that there was more to this saga. Maybe Ethan had Autism. Maybe he was more cognitively delayed than we had otherwise believed.  But I kept repeating the games over and over. I kept pointing to my nose, offering my hand in high five, showing him how to get that which was out of his reach; we kept reading him books, singing him songs, and chatting away with him. We started him in music class and signed up for another day of physical therapy every week. 

The director of our physical therapist office gave us an analogy – she said kids are like water pumps. You pump, and pump, and pump and nothing seems to be happening. But behind the scenes, the water is rising and rising. Then, all of a sudden, it comes rushing out! Well, I’m happy to report Ethan’s cup runneth over!

It was literally like someone walked passed him and said, “Hey, someone forgot to the flip this kid's “On”

Ethan moving and grooving
in Physical Therapy

switch.” He went from being some Buddhist monk to a playful little boy. He suddenly did everything all at once – he high-fived and reached for my nose. He smiled and reached for Terry and I. He would pass toys back and forth, even rolling a back and forth to me. He would repeat some sounds (not a lot… but some!). He started getting very particular about games he wanted to play or toys he wanted to play with. He started walking in his walker and having a clear sense of where he wanted to go. He began exploring – opening and closing cabinet doors, pulling towels from racks, completely torturing the dog by following him around in his obnoxious car-shaped walker.  Don’t get me wrong, the kid is still far more content and Zen than just about any other baby I know – but now he’s scrupulous, curious and animated… 

I was right here all
along, Mom!

It’s like a giant clamp just released itself from my heart. It’s like I can finally breathe.  My son is in there. And I can see he’s been in there and now he’s forcing this giant personality of his out. 

So this is a message not just for parents of special needs kids, but all parents. Keep priming the pump. Repetition. Persistence. Patience. Love...   Rinse, lather, repeat… 

Being a Working Mom with a Special Needs Child

Snuggling with my baby
after work

Being a mom is just plain hard. Being a full time working mom with a special needs kid is really hard. But being the bread-winning working mom with a special needs kid is insane.I don’t want to send the wrong message with this blog post, this is not to throw a pity party or attempt to impress – this is just to try and give a voice to all moms of special needs kids (and really all moms), what we do is hard... really hard and we all deserve love, credit and kudos!

As for my job - I'm in a demanding role. I run a multi-million dollar digital catalog for a high profile department of one of the largest automotive manufacturers in the world. It’s a stressful job and I have very little margin for error. Just as I was finally getting the diagnosis of OMA, and then Hypotonia, and finally Joubert, we were launching two of our flagship products. I had to compartmentalize. I had to bring my A-Game regardless of how much I was falling apart inside. I would have to hide and cry in the bathroom, pull myself together, and then be back in a meeting 10 minutes later (blaming my allergies). 

And Dads... I don't want to discount Dads! Terry was bartending at two different venues and going to school full time during all of this craziness. He managed to get into all of the four colleges he applied to, while working, sometimes up to 7 nights per week, and dealing with his son’s diagnosis as well.

Ethan on a
rocking horse

Terry working nights was a blessing on the one hand, but its been hard on us too. Some weeks we were like ships passing in the night. He would be with the baby half the day, then drop him at daycare and go to work until midnight. I would work all day, pick the baby up from daycare and then do the night routine.

So what’s a day in the life like? This is our life a couple of days a week - I'm sure you can relate!

• At about 6:00am Terry and I both get up with the baby and split the morning routine: changing, feeding, dressing, packing, and walking the dog
• I leave at 7:30 and take Ethan to Physical therapy from 8 – 9am; Terry goes to class
• Take Ethan to daycare and get to work around 10am
• Work through lunch to make up for arriving late, then leave work at around 5:15p; Terry heads to work after school
• Pick up the baby from daycare at 5:55pm, get home at 6:15pm
• Walk the dog with the Ethan, feed him his dinner and give him his asthma medicine
• Do exercises with him for 40 minutes – not just exercises but problem solving, fine motor skills, drawing, music, etc. Anything to make sure we close the gap on his delays!
• Give him a bath and let him free play while I cook dinner
• Feed Ethan his night night bottle, nebulize him with Albuterol (on nights when he’s raspy) and put him to bed
• Eat my own dinner and watch TV for 1 hour
• Work for an hour (either work on job related stuff, or budgets, or paying bills, or organizing receipts, or this blog, etc.)
• Clean the house (dishes, baby bottles/sippy cups, toys, mail/files, etc.) and prep for the next day (lunches, daycare necessities, etc.)
• Read for 30 minutes and sleep (by now it’s about midnight)
• Terry gets home

49ers Win!

Not every day is this hard – sometimes it’s easier…  and sometimes it’s even harder. I mean, just his doctors appointments alone! Our son’s file at the pediatrician is literally 2.5 inches thick already. I think I was 10 years old before mine was that thick! Do you know how many different doctor’s appointments and referrals you need to get a file that thick?!

 But these days go at the speed of light and you don’t even time to think – you just look back at the end of the week or month and think, "Sheesh – thank goodness breathing is involuntary or I might not have had time to take a single breath!”

So again,  to all moms, working moms, breadwinning moms, and working moms (and dads!) of special needs kids – I feel you! I empathize. I understand. You are all my heroes and my mentors. I toast to all of you!

Response from the NICU Doctor

Thank you to everyone
at the Children's Hospital!

This will be a super short blog - we heard back from the NICU Doctor!

She thanked us and asked us if she could pass the letter around to her team members at the NICU. Of course we said yes! I was just very happy the letter was well received and we could close the loop on that crazy first chapter of Ethan's little life.

****

Hi!

I would be elated for you to share this with the health team. We loved everyone who worked with us during that time. In the grand scheme Ethan's stay in the NICU was so short, but to us it felt pretty long and stressful. However, we learned so much from your team - certainly more than we would have if we had just brought Ethan home a day or two after he was born. Considering it was our first, we were pretty prepared by the time we brought him home. Not necessarily prepared for Joubert, but for feeding, fussiness and changing we definitely had a leg up.

Thank you again!

~Katrina

The Blog Gets a New Voice

Ethan's SoCal Birthday!

Hello to everyone who reads this blog - you mean the world to me. You help to give me an outlet for a lot of emotion that may otherwise remain unprocessed. You give me motivation to organize these emotions and really turn them into action plans. It seems silly that a blog would be responsible for all that – but it’s true. Because I’ve made this journey so very public I feel the need to maintain composure, a positive attitude and clear forward direction. And because I feel the need to do it – I actually get it done. So thank you – truly, I thank you!

So – now it was time to put the old voice of the blog to bed. This is no longer “The Story of How My Ex Agreed to Get Me Pregnant.” It’s now a story of how Ethan is going kick Joubert’s butt! It’s now a story about overcoming some pretty unique obstacles… and some fairly common obstacles too!  Really – it’s a story about motivation, perseverance, triumph and love.

Plus, it’s kind of weird when you meet someone who also has a special needs kid and they’re like, “Oh – what’s your blogs name?!” And you pause before having to explain the reason the name of the blog means nothing about Joubert, or specials needs…

So the blog gets a new name… and new description and new URL!

URL Change

First the URL – changing it from "bestfriendandbabydaddy.blogspot.com”  to “ethanconquersjoubert.blogspot.com”. I feel like that this is a pretty self-explanatory change.

Updated Description

Ethan's NorCal Party

Next – I changed the description. This is now “The story of how a thirty-something single gal entered into a co-parenting agreement to have a baby with her ex-boyfriend, and then they got back together, and then had a baby with Joubert Syndrome, an incredibly rare neurological genetic disorder. Between being a new couple, new parents, and all that comes with a special needs baby, see how they're coping today!” Again – pretty self-explanatory.

New Name 

So now we need a new name. Yikes – so many good names were already taken! How to sum up not just Ethan and Joubert, but the journey of Terry and I as well. As rare as Joubert is, so is the arc of how all of us ended up a family. I was pondering names, thinking of quotes, reviewing other blogs, searching for inspiration and I remembered a song I wrote some years back – before Terry and I even became a couple the first time. The chorus goes: There’s laughter in the learning | as you choose where to go | and learning is accepting | there’s no straight and simple road. | Take hindsight for what it is | adjust and realign | Take life as it comes | and take your time.

Terry and I are on our much
needed weekend getaway

And suddenly it hit me – No Straight and Simple Road

I ran it by Terry and he agreed – it encompasses all that Ethan has gone through and will overcome, as well as everything Terry and I have been through and will overcome. So there you have it. There are long roads, windy roads, fun roads, painful roads, fast roads, beautiful roads, and crazy roads… but for me, for Terry and for Ethan – there is no straight and simple road.

We love you for continuing on in this next leg of our journey. Thank you – we love you!

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.