Monday, April 28, 2014

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!

Monday, April 21, 2014

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

Friday, April 18, 2014

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 26th, 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

3rd 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!!

Monday, April 14, 2014

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
  • Katrina McCullough
    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