.NIH.

In January, we had the opportunity to go to the National Institute of Health in Bethesda, MD {outside Washington DC} for a research study on Joubert Syndrome. They are currently studying the scope and spectrum of Joubert Syndrome and it's effects on other organs in the body.

First thing I saw when we landed. I LOVE me some Dunkin Donuts coffee. Best. Ever.

Joubert Syndrome is caused by a genetic mutation from both the mother and father's side and results in an underdevelopment of the cerebellum and brainstem. This malformation most commonly causes decreased muscle tone, difficulties with coordination, abnormal eye movements, abnornal breathing patterns & cognitive impairments. However, it can also result in retina deterioration, kidney failure, liver failure, and a series of other more complex issues.

Parker is most affected by his low muscle tone and the delay in milestones as a result. He does have nystagmus {abnormal eye movements} but it has improved significantly and is continuing to improve. Since he was diagnosed, we have been seeing specialits related to all these areas of the body. And so far, we have been extremely blessed to hear that Parker has a clean bill of health and they do not foresee any of these organ issues in the future.

Waiting for his echocardiogram.

Our trip to NIH, was a chance to see some of the top doctors in the whole world who really understand Joubert Syndrome and really take a close look at Parker.

We were flown out on a Monday morning and stayed through Saturday. Each day was packed with meetings and appointments. We were lucky enough to have my mom and Nick's mom fly out with us and spend the week going to appointments and even doing a little sight seeing with us. Our families have been our rock as we have walked this road and it was great to have them there with us.

Riding the metro to go see Washington DC

The first day we registered and got our schedule for the week. It was much less stressful and open than I thought, and I was pleasantly surprised that they kept time open for naps and lunch. We started at about 8:00am and were finished by 2 or 3pm every day. Parker got an echocardiogram to check out his heart, an EEG to check on his brain waves and activity, an ultrasound on his entire abdomen, an eye exam with dialated pupils to check the health of his eyes, blood draws, urine samples, nutrition appointments, etc.

I was extremely nervous before we went and wasnt sure how Parker or I was going to do with all this invasive testing. As a mother, you NEVER want your child to have to go through any of that, and I was worried about what they might find.

However, the entire experience was so positive and I actually really enjoyed the whole experience and finding out as much information as I could. The doctors and the team were amazing. They were so positive about everything and really walked us through each step, letting us know that we are not alone. They actually made us feel normal for having to go through this.

My boys sleeping after a long day of testing

Normal is not a word I would typically use to describe this journey we have been on, but the doctors didn't even bat an eye as I explained things to them and were so knowledgable that it felt so right talking with them.

This picture breaks my heart but is reality for us a lot. Nick had to hold his chin/neck because he was so upset and moving too much during the blood draw. They took 10 viles of blood!

Being a trooper...much happier after the blood draw was over.

We met with the team of doctors on Friday to discuss the results and what the future looks like. We were very pleased to learn that his eyes look great, his eye sight is actually slightly above normal for his age and they do not see any signs of retina deterioration. His kidneys and liver look great with no abnormalities on them. His heart was in perfect condition with no murmurs or defects. And all the blood work looked great, except for needing to be on a vitamin D supplement {which is no big surprise as we live in the land of no sun}. The conclusion was that Parker will eventually learn to walk, they expect that to happen at around age 3-4 and he will talk as well, he just will be delayed in meeting these milestones. None of that was big news to us, as that is what we are working on in Physical and Education therapy every week. They think Parker's future looks very bright and there is a lot of opportunity and hope for him.

During the EEG. He did GREAT! Just talked and smiled the whole time.

It was so great to hear such a positive outcome, as we are usually used to having to process much harder news. We were able to take some time each night and do some sight seeing and shopping. We ate at some great restaurants and take in the history that is all over the East Coast. I seriously fell in love with the East Coast and am dying to go back and travel all over.



Nick and PD walking towards the Washington Monument



Washington Monument

Lincoln Memorial

We also spent a lot of time talking about future kids and what that means for us. Because both Nick and I carry a mutation of the gene that caused Joubert in Parker, our future kids have a 1 in 4 chance {25%} of having Joubert as well. Our options for having more children are: pre-diagnosis implantation-where they would grow the embryo in the lab and then test for the affected gene and if the embryo was clear they would then do IVF and place the embryo in me; genetic testing at 10 weeks-where they would do an amniotesis and test the baby to see if they are affected and if the baby is, then they would abort the baby or if was was not affected, then they would let the baby continue to grow; use a sperm donor since the chance of the sperm donor having the affected gene is very small; adoption; or chance it and get pregnant hoping for the best and accepting the result either way.

Riding the metro back to the Children's Inn from our parents hotel.

Obviously if you know anything about me, most of these options are not actually options for us. The two we have considered are adoption and chancing it. Since before Nick and I got married we really wanted a big family, and one of the most difficult things to deal with regarding this journey has been this issue surrounding future children and our family. After our meeting with the doctors, we decided we would wait until the end of this year/beginning of next to start talking about what we wanted to do regarding future kids.

BUT....little did we know....a little miracle was already in the making....

.crawling.

Yesterday Parker hit a HUGE milestone. We were cleaning out the car and playing around while Dad was cleaning the garage and Parker got into the crawling stance. I had to help him bring his legs around but then he just propped his arms up and got on his knees! I couldn't believe it!! He then stayed there for quite some time and even pushed himself backwards a few times.

To say that I was proud is an understatement. I was beaming all night. So proud of this little guy. Something that seems so easy for other kids is extremely difficult for him, yet he did it anyways!! Cannot wait to continue to see what he does :)

Parker, I am SO proud to be your mama. You amaze me every day!!

.one year.

**I wrote this post about a month ago in the midst of some really tough days. I struggled with whether or not to post it, but I want this blog to be a place where I can look back and remember the good, the bad, and the ugly as we walk through this journey**

Just a few weeks ago marked the 1 year anniversary of Parker's diagnosis of Joubert Syndrome.

One year.

Part of me feels like it was just yesterday and then again it feels like it was years ago.

I decided to read through the blog post I wrote shortly after Parker was diagnosed. I didn't think it was going to be so hard for me to get through it. The wounds are still so fresh. And although I have grown significantly in the last year and have learned that this is our new normal, it still hurts.

It hurts so deep.

I was trying to reflect on what God has taught me over the last year, but I'm not sure I even can understand what He has been trying to teach me through this all.

I have learned complete and utter dependence, I have learned what it's like to be at your absolute breaking point, to experience the greatest blessing I could have ever imagined and at the same time greater pain than I could ever have imagined.

I have learned that it's all a process and I am definitley still a work in progress. It seems like over the past year I have been to the point where I think this is all I can handle, and then I am pushed farther.

Over and over again.

I'm trying to cling to His promises that He is good and will never give us more than we can bear, but

to be honest...

To be honest, there are days when I can't say that I believe it. I'm exhausted, tired, pushed to my limit and trying to be the best mom and wife I can be. They say that no one can understand what it's like to be a special needs parent until you experience it. And I whole heartedly agree. No one can explain the emotional roller coaster you are constantly on. How emotionally exhausting it is.

 That I have a hard time just sitting and playing with my son or enjoying spending time with him because I think about all the things I need to be working on with him. The physical therapy exercises we should be doing, the education and speech exercises I need to be teaching him.

I deal with the Mommy guilt of being a working mom. But not just the fact that I am away from home and he has to go to daycare, but I have constant guilt that maybe Parker would be farther along in his development, speech, and milestones if I was home working with him all day long. I can't help but think in the back of my mind that it's my fault he is so far behind and not making progress the way he should.

I get discouraged that I teach him the same things over and over and over again and it doesn't seem to make a difference. That he has a harder time grasping certain concepts, and I think that maybe if I was around more he would understand. That he has massive fits and cannot communicate why or what he wants.

I have to play the guessing game and try and calm down his 25 pound body and he squirms and fights me. And I feel so bad for him that he cannot tell us. Like he is trapped within his own body because he cannot communicate. I sometimes wonder if it will ever get any easier. Will Parker always have to struggle so hard? Watching your child struggle to do even the most basic things is excruciatingly difficult.

Will we finally walk through this dark valley and see the beautiful view waiting for us at end? It's a daily battle of survival for me a lot of days, and I wonder if my desperate prayers, nights of crying out on my knees will be heard and how God is using this for His glory.

Don't get me wrong, I love being Parker's mom and think that he is the most amazing thing to ever happen to us. I would do it all over again and I honestly hurt so bad because I love him with my entire being.

People always ask us how Parker is doing, and we generally answer with "great"... Because he is. His smile lights up an entire room, people are drawn to this little guy, and he continues to make slow but steady progress. But deep down its hard for me to even scratch the surface of what that means.

It's been quite a year, the highest of highs and the absolute lowest of lows.

For now, I will continue to depend on the Lord for my strength because I have most definitley learned I cannot do it on my own and pray that He keeps walking through this dark valley with us.

One thing is for sure though, Parker Derek Dietzen you have our hearts and we have forever been changed by your life!!!

.standing.

Parker has been working really hard on his leg strength and standing. He is getting stronger everyday and it's so fun to see the progress. He can now stand on his own unassisted while holding onto the table, or couch, or chair. Here's a quick video I shot of him playing with a drawer.

.hope.

I often find myself in awe of the progress that Parker has made. I look at him sitting independently, feeding himself, constantly jabbering and I am so proud of all the hard work he has done to get to where he is now.

But I also have times of panic

When I think about sending him to school or when signups for sports teams come around. What will that be like for us? Where will Parker be at in his progress and what will he be able to or not be able to participate in.

And then there are times that I think about the far off future.

When someone jokes about when our kids go to college or get married.

At times like that I feel like I have been punched in the stomach.

I put on a smile and laugh along with the joke,

but inside I am thinking..

Parker may never get to go to college, and he may never get married.

And it hurts to think that the things that I enjoy so much, may not be reality for my son.

But thinking so far down the road is too overwhelming for me so I just have to take things day by day in order to function. We celebrate the little things.

When Parker reaches his hands to the sky when we say "SO BIG"

Or when he figures out how to drink out of a straw.

We celebrate big when he starts sitting independently.

And when he picks up a toy phone and says "Hi" and jabbers on.

And I have hope that he will continue to develop and progress and enjoy life to its fullest.

I have been reading Kelle Hampton's blog for a while now and I love reading how she has processed dealing with her daughters down syndrome diagnosis.

That these things happen, that it may not be what we expected, but it's okay. That we refuse to let our children be defined by a "diagnosis" and refuse to accept what stigma's and limitations that society has placed on any child with "special needs".

Today she posted THIS video...

I haven't stopped crying since I watched it.

Regardless of your religious beliefs, the principle behind the event is amazing.

Some of society's most outcased people become the stars for the evening.

They SHINE.

This gives me hope. Hope for Parker and hope for our world.

THIS is what Jesus came to do and this is what I am going to do. Love those who society says are unworthy.

Because I know from personal experience that they are most worthy of being loved. That Parker is more than worthy of being loved and accepted.

It breaks my heart to think that there are so many special needs adults that are just forgotten about. Never given the change to attend a Prom, or feel special.

And I want to change that.

Not only for Parker, but for all those people out there who deserve to feel special, who deserve to feel loved. And to know that we aren't so different after all.

At the core of every person is the desire to be accepted and loved, regardless of anything.

I am excited and hopeful that there are many great things to come and I plan on taking the words of Jesus very seriously when he said:

Jesus replied: “‘Love the Lord your God with all your heart and with all your soul and with all your mind.’^{[c] 38} This is the first and greatest commandment. ³⁹ And the second is like it: ‘Love your neighbor as yourself.

{Matthew 22:37-39}

Loving your neighbor, special needs or not.

And that my friends, is some hope!

.updates.

Whew! January turned out to be even more crazy than December....how is that even possible?!? It's been a few months of ups and downs but so far 2012 is looking up for the Dietzen clan! Hopefully the below will help explain why I have been MIA the past few months.

The first week of November my mom came and stayed with us to watch Parker while his daycare was closed. It also just so happened that Nick had to be out of town for an audit so I was able to spend a kit if time {when I wasnt working} with just my mom and Parker :) It's so fun to get to spend time with my mom. I have a whole new appreciation for my parents after having a child and its really neat to see them with their grandson.

The next week, Nick's mom came and spent the week with us as Parker had ear tube surgery and his adenoids removed. He has snored extremely loud since he was born and had almost 10 ear infections, so this surgery was a must. Mishal was a lifesaver and stayed home with him while I had to go back to work and made sure he got his medicine on time, slept well, and got lots of love!! My dad also happened to be up here the day of his surgery for work, so he came to the hospital and hung out with us while he recovered. The surgery was still a little nerve wracking for me eventhough it is a pretty routine surgery. It's hard to see him go under anesthesia and he has been through so much already, I hate to see him have to do another thing. BUT, it hs been amazing!! No more ear infections and his snoring has almost completely stopped. He is such a trooper!!

SOOO Big!

For Thanksgiving we headed down to California to my parents house for a week. They had just moved into a beautiful new home so it was fun to see their house and spend a week with family in the beautiful sunshine! I love being able to go visit home every couple months and I hadnt been home since May, so it was a much needed trip to CA!!

December started off with our 4 year wedding anniversary {woo hoo!}, and then we had Nick's work holiday party. And between holiday parties, crafting, decorating, and Q4 at work, it as Christmas before we knew it. We spent 10 days in Spokane with Nick's family for Christmas and New Years. I was excited for 10 days off work and relaxing and hanging with family...however, it didn't turn out to be the relaxing week I thought. Right before we left, Parker came down with strep throat so he was on antibiotics and was definitley off. So that allowed for little sleep and sanity for mom and dad. Then about 5 days into his antibiotics Parker came down with a nasty case of the stomach flu and we ended up in Urgent care and he ended up getting an anti nasea shot. Nick then came down with the flu that same night and I got it the next day. So we were one sick family :( We enjoyed being around family but wish we could have all been healthy!

Loving the Christmas Tree!

January started off Nick's busy season and we both jumped right back into work after our break. Parker still wasnt doing very well and was waking up at night quite a lot. We ended up taking him to the doctor again and he had strep still because he never finished his first round of antibiotics due to the stomach flu. This made for very stressed and sleepy parents as it had been about a month since Parker had slept through the night...but we were on the mend. Then "snowpocolypse 2012" hit the Seattle area right at the same time of our 3 day national sales meetings. We got a considerable amount of snow and ice and it pretty much shut the city down. So I ended up having to spend 3 nights in downtown Seattle at a hotel for the meetings. So Nick was playing Mr. Mom all while trying to get the billable hours he needed for tax season and navigate the snow and ice. It was fun and crazy and stressful all at the same time! Then on Saturday night we had my holiday party at the Paramount theatre in downtown Seattle which was really fun! And then that Monday we left for a week to Washington DC!

Snowpocolypse 2010...the beginning!

Holiday Party

We participated in a study at the National Institutes of Health on Joubert Syndrome. They flew us out to Washington DC to study Parker and other children with Joubert Syndrome to follow the different conditions that can go along with that. They were more specifically looking for kidney and liver issues as well as retinal deterioration. I will do a whole separate post on this trip because it was amazing and so interesting, but the good news is that Parker's test came back great and they dont foresee any isssues in the future with his organs or eyes :)

At the Lincoln Monument

Riding the Metro

During the EEG

Now here we are in Febuary! CRAZY!! I am started a new position at work {woo hoo} and Nick is full fledged into busy season with the long hours and weekend working. Parker was doing great for a few weeks and was sleeping through the night, but the past few nights have been challenging with little sleep. And so goes the juggling act of our lives!

Random thoughts and upcoming blog posts: Holidays; NIH; Balancing Act; Future Babies, etc.

Hope that has peaked your interest for future posts :)

.welcome to holland.

My friend Lindsay sent this to me the other day and every word of it rang true for me. And at this point in our journey I am happy to say that I love being in Holland and think it's amazing...but there are still days that I wish we went to Italy instead.

WELCOME TO HOLLAND

by

Emily Perl Kingsley.

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.

But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.