The Final Post... Thank You for the Amazing Journey

First – I want to start by thanking everyone. This little blog of mine has had almost 15,000 page views. It was very therapeutic to share my story with the world. Those who know me know I am not a private person anyway – In fact, I’m what you call an “over-sharer”. I’ve tried to tone it down over the years, but I am who I am.


Right now I'm just working on making up the lost time - when I look back I feel like I never really got to just enjoy Ethan being a baby. There was always so much to do, so much to overcome, so much to be worried about, so many unknowns and fears, and I was so very depressed. All of that has virtually vanished - especially since his 2nd birthday.  I feel like I have lost 100 pounds of pure stress. I feel like that moment when you open the curtains in a dark room to finally let in the light, crack the windows let in the fresh air. I feel like for the first time I can just delight in my son, enjoy him wholly for who he is.

So – where do we go from here?

1. Ethan is almost completely phased out of Physical Therapy. He completed his most recent Harbor Regional Center assessment so successfully they actually began testing him at the 3 and 4 year old level. What is very exciting is that what is next for Ethan is comprised all of those normal "Nexts"-  all the things that all the kids his age will do next. Potty training. Swimming. Toddler Soccer. Music and dance classes.  Arts and crafts. Learning to read. 
2. Terry will graduate college with his degree in Graphic Design next Spring. Remember when I started this whole blog he was still in Jr. College applying to 4-year universities? Well he selected Cal State Long Beach, has been taking as many classes as he can, maintaining an awesome GPA and will graduate this time next year! So proud of my man!
3. I have a new consulting job very close to home and potentially plan on starting my own Project Management Consulting company someday (in the future). In the meantime, I’ve got several ventures going right now –  I'm creating a bachelorette party card game!  I may also be writing a book soon with one of my most favorite people... Lots of fun on the horizon!
4. Lastly, we’re going to be Foster Parents! We are in the lengthy process now – but we have completed our 6-Week PS-MAPP class. Terry was actually the star of the class! Foster parenting is ALWAYS something I have wanted to do. We have the house now. We have the space. We have the yard. We have the income. We’re ready and we are so excited. We’re open to Fostering and Adopting. We’re going to stick with the little, little kids for now because of Ethan.

Thank you everyone for this amazing adventure. Of course the blog will stay up for as long as Blogger lets it stay up, but this is my last official blog post until something new and amazing happens. I feel like I need a poignant ending to this – some sentence to serve as a bow to wrap this whole thing up. But that’s a lot of pressure. So I will end this with a heartfelt thank you and the lyrics to the song I wrote - the one that I used to re-name the blog.

Thank you.     Thank you.         THANK YOU!          Thank you! 

I was always overwhelmed and touched by the responses from everyone through out the years. You helped me through some rough times and I will always be grateful!

“There is laughter in the learning, as we chose to 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.”

I love you!

 

 

What Does This Mean for Baby #2?

Family Pic at Ethan's 2nd
Birthday party

It means a whole lot more than we thought it did. For this blog post I'll just set it up like an FAQs page:

1. Are you pregnant yet?

Ha! No. We are gearing up to start trying again for sure. We have loved being parents - and we have adored being Ethan's parents so we definitely want to have one more. But no, I am not pregnant yet.

2. What are the chances that your next child will have Joubert Syndrome?

Our next child has a 1 in 4 chance of having Joubert Syndrome. It breaks like down like this:

• 25% chance of having an active case of Joubert (like Ethan)
• 50% chance of having an inactive case (like Terry and I who are only carriers)
• 25% chance of having no Joubert Syndrome at all. 

It's funny how the wording of it makes it sound hopeful or dooming: a 1 in 4 chance of next child having Joubert, or a 75% chance of our next child being perfectly fine. We've done a lot of research and honestly it seems to me that most families who have one child with Joubert have multiple children with Joubert, which is disheartening.

3. Are there ways to minimize those percentages?

Yes -  there are several options.

• We can do what's called a "Pre-Implantation Genetic Diagnosis". Essentially it’s in vitro fertilization (IVF) but they test the Embryos for specific genetic mutations prior to implanting them back into the mother. Yes, we are looking into this but it is very costly and we haven't yet identified which of the genes that causes Joubert is mutated, so I am not sure we are even able to do this.
• Sperm Donor - Using an anonymous sperm donor can greatly reduce the risk of Joubert Syndrome. We have thought about this, but honestly this will be a last resort. We want a whole brother for Ethan. We want a complete child of ours.
• Adoption - Some parents choose to adopt if they feel they run a higher than likely chance of having a child with a severe case. 

4. Ethan is doing so well - would it be so bad if you had another child like him?

Ethan's School Photo

Heck no! Obviously we are crazy about Ethan! But do we want to our second child to have Joubert? Definitely not.

Here is what we sadly learned - the severity of one child has little bearing on the severity of any future child diagnosed with Joubert. It's completely dependent on how badly that part of the brain is malformed. We read stories where a family had one child without Joubert, one with just a mild case of Joubert like Ethan, and one with a severe case who died before he turned 3.Yikes...

So, we cannot just use Ethan as our baseline for what Joubert may be for us. His case is uniquely his own.

5. Can you tell if a baby will have Joubert before they are born?

Yes. You can. There are several ways along the way to know if your child is at high risk of having, or in fact does have Joubert in utero.

A. Amniocentesis
15 - 21 weeks gestation
This tests known mutations and Analysis of fetal skin cells
>.5% rate of miscarriage

B. Chorionic Villus Sampling (CVS)
10 - 12 weeks gestation
This can test all of the chromosomal abnormalities and hundreds of genetic disorders
1% rate of miscarriage
The main advantage to this over an Amniocentesis is that you can complete it sooner and it's more accurate, however, there is a higher rate of having a miscarriage

C. Ultrasound
18-22 weeks
This tests for extra fluid in the brain, Kidney cysts, noted brain differences
Note: Ethan was noted as having fluid in his brain which was reported as the high end of normal. It didn't seem to alert anyone too terribly much at the time. Now we know what to look for.

D. Fetal MRI
20 - 22 weeks
This where they detect the definitive Molar Tooth Sign. However, this is obviously very far along. Lots of potentially painful decisions.

6. So what are you and Terry going to do?

Ethan posing with his paper guitar

What you do with this information is pretty tough and definitely personal. I will certainly NOT be blogging my way through this one.

So what are we doing? We're throwing it out to the universe. We know we want one more. We're not sure there's a lot we can do to control the outcomes. So, we're putting our faith in the unknown. If we're not successful we will certainly weigh our options, adoption, sperm donor, et al. But we remain ever hopeful that whatever the Universe has in store for us will be a blessing - just as Ethan is. Wish us luck!

Next Blog Post - Final Post! Where we go from here!

What is Joubert? How Bad Can It Be?

I feel in a way we've almost done a disservice to the families out there also dealing with Joubert Syndrome. I think people can look at Ethan and the progress he's made and think to themselves that Joubert Syndrome is not really that bad. And for that, we are extremely  lucky. Joubert, like any other disorder, has a spectrum. Clearly we're on the mild end of it, but the other end is no joke. Its debilitating, it's painful, and it can be fatal.

So what the heck Joubert Syndrome?

Overview: Joubert syndrome is a rare brain malformation of the brain stem and the cerebellar vermis - an area of the brain that controls balance and coordination.

The most common features of Joubert syndrome include:

• abnormally rapid breathing
• decreased muscle tone
• abnormal eye movements and the inability to coordinate voluntary muscle movements. 
• mild, moderate or severe intellectual disabilities. 

Joubert Syndrome affects multiple other organs, causing decreased respiratory function, liver disease and renal, or kidney, failure. Within the first year these are often fatal. Many children with Joubert suffer from chronic episodes of apnea, or failure to breathe.

Treatment: There is currently no cure. Treatment is for the symptoms only and  consists of infant stimulation, physical, occupational, and speech therapy. Also, annual monitoring of the liver and kidneys, as well as follow-ups with a pulmonologist, neurologist, nephrologist, and ophthalmologist.

Ethan in the NICU - the first
time I held him

Ethan's Apnea: I don't know if you remember my terrifying post when Ethan stopped breathing and needed CPR for 3 minutes right after he was born - we know now this was likely caused by his Joubert. We didn't know it at the time and if we did, he would have had a home breathing monitoring system through the first year of his life. (Blog Post:  http://ethanconquersjoubert.blogspot.com/2013/08/What-happened-during-delivery.html)

How Bad Can It Be? 

You've seen the mild side of Joubert. Sure we had some pretty intense scares, but overall we're doing pretty good. Children on the extreme end of Joubert suffer from truly debilitating symptoms:

• They may never walk, remaining wheelchair bound their entire lives
• They may be severely mentally disabled
• Some are never able to speak, even some who have only moderate cognitive disability are sometimes unable to verbally communicate
• Some never mature past a certain grade level. 
• Some suffer from chronic apnea, where they literally stop breathing multiple times per night. This can be and certainly has been fatal
• Some have liver or kidney failure, requiring organ transplants. This can be and again, certainly has been, fatal
• Some never live past 10 years old. 
• Some never live past a year. 

It can be very very bad.                            

What We Do for Ethan

Other than thank our lucky stars everyday!? We had Ethan in twice weekly PT and OT. He has recently graduated to once per month for monitoring! We do eye tracking therapy with him. We get his liver and kidneys tested annually by both blood tests and ultra-sounds. His last tests were slightly abnormal so we are working with a nephrologist to monitor his levels. His eyes are checked every 6 months. We will do this until he is a teenager. We don't know yet if there is or will be any cognitive delays. There certainly don't seem to be any so we are relentlessly optimistic and yet always on the look-out.

We do know with his Ocular Motor Apraxia (OMA) he will have a harder time doing certain things, like reading a book, taking tests, playing certain sports. OMA is the brains inability to control voluntary eye movement. Basically he has to turn his head to move his eyes. It decreases peripheral vision and definitely affects his balance. When we read we move our eyes right to left - he won't be able to do this. Ethan will have to move his whole head right to left so reading will get tiring for him. Luckily - tablets and computer screens seem to be easier for people with OMA. Thank goodness we're in the technology age!

So, please say a prayer for all those kids and adults out there with Joubert Syndrome. And help to raise awareness if you can! Here are some links to review:

Sites:

• Joubert Syndrome Foundation: http://www.jsrdf.org/
• University of Washington Research Study: https://depts.washington.edu/joubert/joubertsyndrome.php

PDFs:

• This is the most amazing PPT ever - it covers everything: http://www.jsrdf.org/pdf/jsrdf2011conference_whateverygcwantsyoutoknowdanaknutzen.pdf 
• This is an interesting link done by surveying parents of children with Joubert to chart milestones: http://www.jsrdf.org/PDF/Milestones_Survey_Results_06-03-13.pdf

You can see Ethan is doing very well - but you can also see how debilitating this can be

Next Blog Post - Baby #2? 

So, now you're asking - what does this mean if Terry and I want to have more children? It means a lot, so check back for our next post!

Final Blogs Posts - Ethan Turns 2!

Ethan's blows out his candle!

8 long months have come and gone since I wrote my last blog update and so many things have changed, for the better! I have to be honest, when things are going well the inner need to share my plight diminishes exponentially. And lets face it, this just turns into yet another Mommy Blog. So these will be my last four blog posts. I want to bring to closure to this little adventure of mine for those who may have been following, and ultimately for myself.




The next four posts will serve to wrap up where we have been and shed light on where we go next. They will include:

• Changes in our lives and Where Ethan is now - as he turns 2! (This blog)
• What is Joubert Syndrome and how bad can it be?
• What does this mean for Baby #2?
• What's next for us and Thank you!

We have two big changes -

• New House! We bought a house! In all honesty, I think we bought the house for the dog. We were so tired of always having to leave our condo when he needed a pee break. Now Bailey has a yard!

• New (Old) School for Ethan: Ethan went back to his first daycare/preschool. Remember the blog post where I was so excited that Ethan got into this great Montessori preschool... well, not just 5 months later they kicked him out. It was a devastating blow for Terry and I. They had been working so hard with him we thought they were making great strides. They were holding him back in the infant section because he couldn't walk, and then they just told me it wasn't working out. I told them we had a prescription walker and he would be fine in the older kids section. The director responded by saying, "He will be made fun of. And we can't let Ethan use a walker if the other kids don't have one. It won't be good for his self-esteem."  I was floored. I was angry. But I ultimately decided this wasn't my battle to fight. I called his old preschool director and she was elated! We brought him back the following week.  He has prospered there ever since! He has even moved to the 2 year old room after his 2nd birthday. And you know what? The kids don't make fun of him. They knew he needed help walking and they actually supported him. The teachers there just manage it beautifully. The pictures below at his new school show just how well he is doing!

Ethan playing beautifully with 
the kids at school

So, Where is Ethan Now? 

Ethan riding in his first
ride by himself!

That is - where is developmentally. Ethan has blossomed into a full-blown toddler, with the amazing highs and lows that come with growing pains and starting the separation from us, his all-knowing parents. What's most interesting for me during this time is that most parents I know say they want to "pause time, or keep their children little forever". But for us, every month that he turns older he gets one step closer to closing the gap between where he is developmentally and other kids his age. Every month he gets older, we worry less and less about the boy and the man he will become.



What gaps has he closed?!

• Verbally: Ethan is so very verbal. He repeats words constantly and is now beginning to speak in two-three word sentences. "I see airplane."  "Sit down Mommy."  "I want banana." "Wheels go round."  This was key for us because so many kids with Joubert Syndrome are non-verbal or learn to speak much later with the aid of speech therapists.
• Cognitively: Ethan knows his basic colors, shapes, letters and numbers. We are constantly impressed with how quickly he picks things up and how much he learns at daycare too. He knows his animals, different foods, his friend's names, his teacher's names. He knows his Mommy!  
• Physically: Ethan WALKS!!!!!! From the time I started writing this very blog post till the time I published Ethan has learned to walk! It's amazing!!! He can stand up on his own and walk around everywhere. This is huge for us. HUGE!!!! We are so excited about this!  See this adorable video of Ethan just learning to walk! https://www.youtube.com/watch?v=kRp4ulGBOX4
• Socially: Ethan loves people! Loves them! If he can make a person smile, he is elated. He flirts constantly. He wants to make friends with everyone. He loves to play with older kids and to hug the littler ones (though not always gracefully).  He loves to roughhouse. Tickle monsters and tackle monsters are some of his favorite games. 
• Emotionally: Ethan is extremely opinionated and is very clear in what he likes/doesn't like. For the first half of his mini-life Ethan didn't seem to care one way or the other about things. Whatever toy you gave him was perfect. Whoever held him was fine. Wherever you left him he was content. It was easy - but it scared me. It didn't feel "normal" to me. But now - well, now he's just as opinionated as I am. He wants what he wants when we wants it. And we hear "No" all the time. Some people say "Be careful what you wish for." But we're fine with it. Everything he does that's on the spectrum of "normal" - no matter how much of a pain in the butt it may be - we are grateful!

Ethan loving the bounce house at his 2nd
birthday!

Next Blog: What is Joubert anyway? How bad can it be?

I'm writing this blog because even though Ethan appears to have a pretty mild case, Joubert Syndrome itself is no joke. People are always asking me about it - so I figured I would spread the word to help us and help those less fortunate. Please check back tomorrow!

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!