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.

Sunday, April 29, 2012

What a Week!?!

We're happy to report that Jake is finally over his cold...not so happy to report that we spent most of the weekend at Children's Hospital. So, let's re-cap the week from beginning to end.

By Monday Jake's cold was completely gone! Yay! The absolute best part was that we got some great big smiles and laughs that night. A little smile goes a long way and let's us know our little man is feeling better!!

On Tuesday...the "official" announcement was made that Uncle Joe and Auntie Jenee are going to have a baby!! We already knew a few weeks before, but couldn't quite share. Jake is sooooo excited to have another new cousin!! Due somewhere around November 3rd.

On Wednesday, Grandpa Beaver (Josh's Dad) came by to visit and played guitar for Jacob. He always lets Jake strum along and he LOVES it! Grandpa Beaver has been in Hawaii the last several months helping out his parents who also live there (the same one's we were supposed to visit back in February), so he's missed his Grandpa.

Jake strumming the guitar with Grandpa Beaver

On Thursday, Jacob had his first appointment with his pulmonologist, Dr. Zee and it was very informative. We learned that Jacob has paradoxical ("seesaw") breathing. Jake's lungs inflate during inspiration and balloons out during expiration; the opposite of normal chest motion. This is common for people with diseases like Jacob has to have and affects his ability to move air efficiently, which is part of the reason why he has such difficulty fighting off colds. We also found out that due to Jacob's low muscle tone, he will have a harder time being able to cough and will experience looser throat muscles, which cause the piggy snorting sounds that Jake often has. Dr. Zee gave us some good tips on how to assist Jacob when he gets colds. We were happy to hear that Jake does not need oxygen at this time, but Dr. Zee does want Jacob to have a sleep study done in about a month in order to see how he breathes at night. We have some concerns about whether he has apnea (periods of time where there is no exchange of air in his lungs), so the sleep study will confirm if he is having this problem. All in all, it was a helpful visit that reassured that we're doing everything we can for Jake right now.

On Friday, Jake slept the entire night on Thursday...what!?! Jake NEVER sleeps through the night. We thought it was because of his busy day Thursday, but turns out he spent most of the day being very lethargic and even threw up once before eating, which is very unlike him. He was in bed by 6:00 pm and didn't wake until 6:30 the next morning -- this absolutely unheard of for Jakers to do this!

Oh Saturday...longggggg day!!! By Saturday morning, we were worried! It's not like Jake to sleep for such long periods of time and even more worrisome was to see him not eating. He also hadn't had a bowel movement in 3 days -- also very unlike him, but probably because of his iron intake. I called Jake's pediatrician's office and they recommended going to the emergency room since he was going to need to have some diagnostic labs and tests done to figure out what was going on. After his last hospitalization, we didn't want to take any chances. Upon arrival we were brought back very quickly and about 10 minutes into the visit, Jake threw up on Momma and had a tough time keeping anything down most of the day. After several labs (4 needle sticks -- poor little man) and a chest x-ray, results showed that his liver enzymes were high, but actually better than they had been. Other than that, everything looked good and/or better than prior labs! Great news, but baffling as to why Jake was so lethargic and not eating. In the meantime, they started Jake on IV fluids and after 9 hours in the ER, we were admitted to the floor. I won't go into details here other than to say...it was very stressful and we did not want to stay overnight and risk exposing Jake to more germs, but we ended up staying the night to ensure he was properly hydrated. Jake was quite alert most of the night and even gave Momma a big smile when she tried to coax him back to sleep for the umpteenth time. Guess the fluids helped.

A gigantic arm splint (for IV) doesn't stop bunny snuggles
By Sunday, Jake was back to normal. Still not quite sure whether or not Jacob was fighting off something before it grabbed a hold or whether he was just backed up from all the iron supplements that he's been taking. Regardless, we pushed for an early discharge and we were home by 9:15 a.m. In fact, Jacob was doing so well that we all joined Josh's family for a nice lunch and got to hang with the whole fam! A nice end to a very busy and eventful week!

Saturday, April 21, 2012

Delay in the Game(Plan)

Jake caught another cold right after Easter, so we've had to postpone his surgery. It started off with a little sniffle, but he developed a cough with a junky sound in his upper airway and harsh respiratory sounds. The congestion often causes him to vomit, so it's a struggle to keep his food down. We began administering albuterol treatments several times a day to help with his breathing and started him on a perscription to hopefully fend off any ear infection or pneumonia that might be lurking. We're trying to be as proactive as possible to fight this thing off fast. We have no idea where his cold came from since we haven't really taken him out of the house. It's very apparent that he is incredibly susceptible to germies floating around.

As of today, we feel he's doing better (cold wise), however his energy level is still pretty low. And is if Jake weren't already dealing with enough...he is cutting a molar and has been really fussy. His gum literally split open and was bleeding last night, but he finally found comfort in a cold washcloth on his gums ~ thank goodness! Jake is one tough little man!!

Our goal right now is to get him through this cold and keep him healthy so that he can finally get his feeding tube. Jake needs more strength to fend off these colds and we'll keep fighting this uphill battle if we can't get him the nutrition that he needs.

New surgery date: May 10th. Jake will have a pre-op appointment a few days before his scheduled surgery date to ensure things go smoothly with the anesthesia.

Due to his recents colds, his respiratory issues also have us worried and we really wonder if he is in need of supplemental oxygen . He has an appointment with a pulonologist next week, so hopefully we'll get some clarity on what we can do to help him when he's having labored breathing.

Given the hot weather (87 degrees!), we decided it was time to break out the kiddie pool and give the little man some time to splash around. It was just what Jake needed to cool down and relax after being couped up in the house sick for almost two weeks. Josh leaned him back at one point and he was kicking his feet while babbling up a storm. It was soooooo good to see him happy!! Of course, he never wants to smile for momma's camera -- oh well, he's still a handsome little fella!

Jake sportin' his cool new froggy sun hat

If you have the time, please say a little prayer and send good thoughts to a special little "warrior" named Wylder. He is another little boy with Niemann-Pick disease type A and is currently in the hospital fighting off pneumonia. We've been thinking about the Warrior and his family a lot this week and hoping for a speedy recovery, so he can celebrate his upcoming 3rd birthday!! His parents have very fun things planned for him!

Monday, April 9, 2012

Some"bunny" Special

We had another wonderful Easter! It was so incredibly special to spend time with our families. We enjoyed lots of laughs and ate plenty of good food! Due to Jacob's lengthy recovery after his hospitalization in February, it has literally been months since we have seen most of our extended family members. Jacob got lots of snuggles and lovin' from all of his grandparents, aunties, uncles and cousins. Jake was a little overdue for his afternoon nap, so we missed out on the annual Kelly Family softball game, but we heard all about it when the fam came back from the park ready for our traditional Easter feast!

Now that Jacob's older, we were able to enjoy a few more Easter activities too, including coloring Easter eggs and eating marshmallow PEEPS (courtesy of Jake's godparents)!  Here are a few pics from the past couple of days...
Uncle Joe and Auntie Nay hopped on by to deliver a special Easter basket.
Jake even got some quality time with his favorite little pup Lola (seen here reading with Jake).

Jake was so happy he was grinning from ear to ear (bunny ears)

PEEP this! He looks like he ate a Smurf!!
Coloring eggs with Daddy
Daddy snapped this shot right as the little man reached in to grab the egg from the colored dye mixture...oh joy!!

Snuggled up on the couch with some of his cousins
~ Hailey, Kayla, Millie, Abby and Jake~

Checking out the goodies from the Easter Bunny

Wednesday, April 4, 2012


I know what you're thinking and it's not Mickey, as in the mouse. A Mic-Key button is actually a type of feeding tube that is placed through the abdomen to deliver nutrition directly into the stomach. In case you missed the previous posts, feeding tubes provide an alternative way to eat and are used by people whose digestive system "work" but who can't get enough, or any, nourishment by mouth. Although Jacob's eating has gotten significantly better, his occasional post-meal vomiting is still an issue. Despite our best efforts and sometimes battle session feedings, the small amounts of table food that Jake consumes, combined with his Pediasure bottle feedings are simply not an adequate amount of nutrition for our little man. A Mic-Key button would allow us to continue feeding Jake by mouth, but offer us a back-up option to give him the proper nutrition he needs to grow.

Snuggled up to his Ele after a long day of tests. He loves to snuggle!

We met with a surgeon at Children's Hospital last week to discuss having the Mic-Key button placed for Jacob. We've already done our background research and hear he is a great surgeon. Jacob also had another diagnostic imaging study done to show how his stomach was emptying. It was a tough one for the little man and he cried for nearly an entire hour while they completed the study. The results of the test came back on Thursday and there was a slight delay with his stomach's ability to empty, but it was within normal limits. Josh and I have had a very difficult time making the decision to pursue a feeding tube for Jacob. It has been such a tough recovery from his last hospitalization and we have concerns as to whether or not a surgery will set him back further, but in our hearts we know that he needs a feeding tube in order to get proper nutrition and hopefully regain more of his strength. After multiple discussions with Jacob's doctors, we decided that it is time for the Mic-Key button. Jacob's surgery is scheduled for Thursday, April 26th.  

Surgery aside...we're happy to report that Jacob has been doing a lot better these last two weeks. This is part of the reason we've struggled so much with the feeding tube decision. The iron supplement is definitely helping him regain some of his strength and energy. In fact, we received the results from his recent blood work to find that his iron level had already improved and his liver enzymes had improved as well! Yay!!! We're also seeing a lot more smiles and more engagement in activities that he loves (e.g. peek-a-boo, banging on his xylophone, and tickles). These are all good signs and we're hoping that the Mic-Key button is the "key" to bringing back the belly laughs and happy leg kicking that we miss oh so much!!!

Uncle Mike hopped by on Sunday to deliver a very soft and special bunny for Jacob. He loved it!!