We originally created this blog to keep family and friends updated about our little man Jacob, who was diagnosed in the summer of 2011 with a rare, life-limiting genetic disease called Niemann-Pick (type A/B). Jacob earned his angel wings on November 15, 2012, but remains our daily inspiration and constant reminder that we must live in the moment and fill each day with JOY, LAUGHTER and an abundance of LOVE.

Wednesday, July 25, 2012

Smiley Boy!!

Just had to share the sweetest smile that I captured on camera tonight. Jake was pretty fussy after his dinner tonight, but was in a much better mood after his Grandma Sheila and Grandpa Paul stopped by for a visit. When I took him upstairs to give him a bath, I was singing "Happy Birthday" (since it is his Grandpa's birthday) and he let out a great big belly laugh and smiled bunches. I always try to have my camera nearby to snap a pic and capture wonderful moments like this! These are the moments that make our days brighter!!

"So keep your head high, keep your chin up,
and most importantly, keep smiling,
because life's a beautiful thing
and there's so much to smile about."

- Marilyn Monroe

Tuesday, July 24, 2012

A HUGE Thank you!!!

Thank you sooooooooo much to everyone who helped support our fundraiser for Jacob and the National Niemann-Pick Foundation! The jewelry fundraiser was a HUGE success and we're still collecting the last of the catalog orders, which are due tomorrow. I took Jake with me to the fundraiser, as I knew there were many people who were anxious to meet our little man. It was a little overwhelming for Jake at first because he doesn't like being around a lot of people or noise. Fortunately, our amazing nieces helped entertain Jake so I could mingle a bit, which allowed me the wonderful opportunity to chat with some of the people who have been supporting our family with well-wishes, prayers, and more! We are so grateful to those who have opened their hearts to our family and especially to Jacob. It truly means the world to us to know that our little man is making such an impact on the lives of others.

Jake and his cousins Helena and Kayla. He loves the girls!!

Jakers and Cousin Hailey - LOVE, LOVE, LOVE this pic!

Again, a very special thank you to Jacob's wonderful Grandma Sheila for coordinating the fundraiser and to Sue Brown for so graciously offering to donate a percentage of all sales to such a wonderful cause!! Our family is so very appreciative!!!

Saturday, July 21, 2012

A True Warrior

Our deepest and most heartfelt sympathies go out to the Laffoon Family, whose sweet little boy Wylder (also known as the "Warrior") passed away in the loving care of his parents yesterday morning. The Warrior was just 3 years old, but lived a life full of love and touched the lives of so, so many!!

A wonderful smiley pic of the Warrior --  I know how special & priceless these moments are.

When we first started researching Niemann-Pick Disease after Jacob's diagnosis, the Wylder Nation website was one of the best and informative places we found to learn about this horrible disease. I've been following Wylder's blog since Jacob was first diagnosed (about a year now). Similar to Kaitlyn's blog, I have learned an abundance of information about the progression of this disease and have been inspired, encouraged, and even strengthened to know that we're not fighting this battle alone. It took several months for me to finally reach out to Wylder's parents Shannon and Steven, but once I did they have been so supportive and wonderful! Recently, they even offered to give Jacob one of Wylder's pieces of adaptive equipment -- a gesture far beyond thoughtful.

I was devastated when I heard about the Warrior's passing and cried off and on throughout the day. As I've mentioned before, it is absolutely heartbreaking each time we lose another one of our Niemann-Pick friends and it reminds us of the harsh reality that our own family faces. Yesterday, I chose to spend the evening snuggling Jacob and enjoyed every precious minute with him as he drifted off to sleep, all the while thinking of something Shannon said in her last blog post -- "NO REGRETS!" The dishes, the laundry, the bills and the e-mails can all wait...

I never imagined that these amazing kiddos and their families would have such a dramatic impact on our lives, but they have all earned a most special place in our hearts.

Jake celebrating the Warrior's very special "UP" themed 3rd birthday from afar!

Please keep the Laffoon family in your thoughts and prayers, as they both mourn and celebrate the life of their amazingly strong little boy ~ a true WARRIOR!! Visit the blog to read more about this inspiring family.

Thursday, July 12, 2012

Jewelry Fundraiser - July 19th!!

Jacob's grandma Sheila is hosting a jewelry party fundraiser to benefit Jacob and the National Niemann-Pick Disease Foundation.

Date: Thursday, July 19th
Time: 6:00 p.m.
Location: 15 Stugun Court, Pleasant Hill, CA
R.S.V.P. cotruvo2@att.net

We know that everyone is busy and many of you who follow this blog live out of the area, so if you're not able to attend, please let me know if you're interested in seeing the catalog. You can e-mail me your address and I can have a catalog sent to you ASAP. Cut off day for orders in Monday, July 23rd. I've already perused the catalog and there are LOTS of really nice and fashionable pieces. The best part is...you're new sparkly, shiny jewelry purchase will help benefit a great cause that is near and dear to our hearts!!

Special thanks to Sue Brown for generously offering to donate 25% of the proceeds to such a special cause and to Sheila for helping to put this fundraiser together!

Wednesday, July 11, 2012

Breathing Easy

On Monday, Jake had an appointment with his pulmonolgist to review the results of his sleep study. I have to say, it was one of the best appointments that we've been to in a while!! We received good news that his sleep study actually revealed fairly good results! Yay! Yay!!!

He does have slight apnea (suspension of breathing) and abnormal hyponea (episodes of overly shallow breathing or an abnormally low respiratory rate) while he sleeps. In fact, Jake had 33 instances of hyponea the night of his study, however his oxygen saturation levels remain in the high 90's for the most part and his carbon dioxide level are within normal range. This basically means he's not being deprived of oxygen, which is what we feared. His muscle weakness has caused his throat muscles to relax more over time, which is why his air exchange is irregular -- it also explains his loud lumberjack snoring! The apnea/hyponea causes Jake to wake up quite a bit while he's sleeping, but at this time his doctor does not feel the need to start him on any oxygen since his oxygen saturation is so good. Again, YAYYYYYY!!

We discussed Jacob's difficulty with the altitude when traveling to Lake Tahoe and his doctor advised that we take precautions when traveling to higher altitudes. He recommended that we spend a night or two at a mid-point elevation before moving to higher elevations. The doctor also advised that we not take Jake on airplane rides since he would likely experience the same altitude sickness and it's too risky to be that far away from medical care when in flight.

We were planning to travel to Tennessee in August for the annual Niemann-Pick Disease Family Conference, but given Jake's current health we had already made the decision not to attend. I REALLY wanted to attend the conference to learn more about the disease and meet some of the other families, but we know it's just not feasible to travel with Jake that far (8+ hour travel time). Our Tahoe experience coupled with the doctor's recommendation not to fly with Jake only re-affirms that we made the right decision. For now, we are just so very thankful that Jacob is breathing well enough on his own!

Blurry, but I caught a half-smile on camera : )

Monday, July 9, 2012

Fireworks and Fun at the Lake

We had a great 4th of July celebrating with family up in Winters, CA! It's a small town, but they put on a great fireworks display that we can watch from Auntie Kate and Uncle Darsen's backyard. To top it all off, we get to swim in the pool and eat loads of summer picnic food all day long. Jake especially loves the water and just enjoys kicking back while we hold him. He also really enjoyed the fireworks and stayed up late to watch the entire show!

Watching the fireworks with Momma

Ooooh! Ahhhh! Our favorite fireworks are the sparkly ones that look like fairy dust

The next day we left for a mini-vacation up to Lake Tahoe, which is one of our favorite places! We were super excited to have a fun couple of days with the little man lounging by the lake and soaking up the sun. The trip started off a bit rocky because Jake was really whiny and cried a lot on the way up, so we had to pull over several times to let him stretch out and relax. During our trip Jake was pretty fussy and on Friday night he didn't sleep much. In fact, he cried off and on most of the night and threw up all of his meals the next morning. By early afternoon, Jake seemed okay and didn't have a fever so we went to Baldwin Beach (one of our faves), but he continued to throw up anything we gave him and was very lethargic. At this point, we were concerned that Jake had altitude sickness and were really worried that he might not be getting enough oxygen since his breathing was really shallow, so we decided to take him to the local Emergency Room.

Once at the ER, the medical staff checked his vitals, which were actually really good -- oxygen saturation was 95% (good for such high elevation), good blood pressure, sugar levels good, no fever. They also had an x-ray taken in case Jake's g-tube had slipped out -- nope, it was still in. They decided to give Jake anti-nausea meds and we administered a bolus feeding to ensure he could keep his food down, which he did. By the end of the visit, the physician determined that Jake likely had altitude sickness and advised us to take him to a lower elevation. We agreed that a trip that night would be too much on him, so we brought him back to the hotel to have a good night's sleep and left for home the next day.

Although it was a bit of a rocky adventure, we still got to enjoy the lake and soak up the sun, so it was worth the trip. We squeezed in as much fun as we could and are now better prepared for our next adventure!

At the top of Harrah's overlooking the mountains
Our cousin Rosie is visiting from Scotland and went with us to Tahoe. I snapped this super cute pic of her enjoying a little snuggle time with Jakers

Chillin' in our new beach tent

Toes in the water...testing it out (yep, it's cold!)

Checking out the view of the Lake

Looking at the fish from the inside of Taylor Creek Stream Chamber

This beautiful butterfly followed us on our way back along the creek trail -- it reminded us of little miss Kaitlyn : )

A little girl gave this to Jake when we were in the ER. Her dad was in the room next to us with a bad cut on his leg and she thought Jake would like this book. Incredibly sweet!!!

Josh and I have always wanted to do an old west photo together and we think it turned out pretty cute (baby bump and all). I couldn't pull off the serious face as well as Josh and Jake

Lessons learned: 1.) No more long car rides for Jake and 2.) avoid high elevation trips. That said, we'll be looking into RV rentals so Jake can travel more comfortably and seeking out suggestions for lower elevation spots to travel to.

Tuesday, July 3, 2012

Big Boy Bed

Yay!! Jake's big boy bed got delivered yesterday! 
Stretching out and kicking around
As soon as we set him down to test out his comfy new bed he had several great big smiles. We decided to get Jake a trundle bed, so that Josh and I have the ability to sleep right next to him if needed. Currently, Jake wakes up at least once a night and at some point we always end up moving him into our bed. Jake loves to be snuggled and usually just wakes up so that he can be next to us. We love our snuggle time, but it's a pain in the middle of the night having to move him and the feeding pump. We felt the extra bed in his room would be a good alternative and will probably be helpful in the future as Jake's health needs change. For now, we're just wondering...where can we find some cute sheets for kids (nothing too crazy, but more fun than just plain green)??
Wondering why Momma is taking so many pictures...
Jake's crib is being passed down to his baby sister-to-be and has already been moved into the baby's room. Josh and I spent all weekend clearing out the extra room (a.k.a. Josh's "Man Cave") and re-organizing things in the office too. Jake was such a good boy all weekend and played quite a bit on his own while watching us scramble around. We even had a bit of fun hiding Jake under his stuffed animals -- doesn't he look thrilled?? Ha! Ha!

His face is priceless in this one!

Sunday, July 1, 2012

Splish, Splash...

...Jake was taking a bath! It's been about a month since Jake got his fancy new bath chair and I thought I'd post a couple pics of his bath time fun!

Naked boy! You can see his G-tube in this pic
Jake absolutely LOVES his baths and has since day 1 when we brought him home from the hospital. He especially loves having his hair shampooed. If Jake was having a bit of a fussy evening, a little splishing and a splashing' in the tub easily brought about lots of smiles and has always been one of the best parts of our bedtime routine. Over the past several months it has become very difficult to bathe Jacob because he's lost a lot of his core strength and is no longer able to hold his body or head up very well. It became a bit of a hazard trying to hold Jacob up with both hands while trying to wash him up, so we worked with his doctors to put in a request to our insurance to purchase a special bath chair for the little man. Our insurance originally denied our request because the bath chair was considered a "comfort item". What!?! I am still annoyed at this!

For anyone who has ever had to buy any sort of adaptive equipment, you probably know that it's not cheap. The bath chair cost close to $700!!! You might think that it would be covered in gold at that price, but nope…just a bit of plastic and mesh fabric. We wanted to see if we had other options to get the chair faster than appealing with the insurance company (which could take several months) and considered buying it ourselves, but also didn’t want to break the bank. A special thanks to Chrissy, Jake's case manager at the Regional Center for the East Bay for all of her hard work in getting this special equipment approved for funding. We had the bath chair within a couple weeks!

Now that Jacob has his fancy new bath chair, it is sooooo much safer and easier to give him a bath. We’ve tried bathing him in the big tub and also used the shower hose in our big shower. Either way, he still loves his bath time fun!

Pretty please momma...can I take a bath??
This baby bath wash works great when the little man has a cold
Our little prince charming drying off in his favorite froggy towel

I should also add that Jake is over his summer cold. Yippee!! We were able to kick this bug to the curb within about 8 days, which is really good because Jake’s colds tend to linger for 2-3 weeks. The little man also has two new teeth – a big bottom molar (thanks to his oral procedure) and another new top molar that just made its appearance.

Colds and teething aside, we're looking forward to a fun week ahead!