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, September 30, 2012

Amazing Day!!!

If we were to pick one word to describe our Family & Friends Fundraiser yesterday, it would be...AMAZING!!! Close to 200 of our closest family members and friends came out to support our little man. It was a fun-filled day that included a balloon-making clown, face painting, live music by our talented family members, tons of food, and even some magic! Most of all, the day was filled with an abundance of love and support for our family!

Jake had a really rough day yesterday and wasn't feeling well, so he spent most of the day snuggled up in the arms of various family members. Despite not feeling well, Jake held out until the end of the event and even mustered up a smile for his Aunt Cathe, which made us very happy! Our little man is the poster-child for what it means to persevere!

A HUGE THANK YOU to each and every one of our loved ones who came out to support our little man Jacob. It is simply impossible to put into words how incredibly special this day was and how humbled we are with the outpouring of love for our little man. We raised a nice amount of money to support Jacob's ongoing medical expenses and helped raise awareness for Niemann-Pick Disease. In fact, even a few passersby walked by the event and dropped money into the donation box. A very special thanks to Jacob's grandparents Sheila and Paul Cotruvo, who helped organize the event and to all the rest of our AMAZING family and friends who helped with the AMAZING food, AMAZING entertainment, donated AMAZING raffle prizes, as well as helped out in various different ways to make it an AMAZING day!!

Here are a few pics that captured some of the joyous moments of the day:

Jake's banner

Everyone had fun clowning around. Check out all those crazy balloon hats!!

The face painting/temporary tattoo booth was busy ALL DAY!! Practically everyone left with some party of their body painted.

"Grill Master" Uncle Jeff  and Grandpa D helping out too

It was a dog friendly event too...at least six or more pups joined in on the fun, but this was (by far) the biggest!!

Best raffle ticket sellers ever! Jake's cousins got the words "Persevere", "Joy of" and "Jacob" painted on their faces. Melts my heart!!

Grandpa Paul and Toni singing. Even Grammie Kathy got on the mic

Grandpa Beav and Diana singing a few songs

Some friendly faces : )

A little magic...how'd he do that??

Even the littlest of kids enjoy magic!

Magic show..."I'm looking for a volunteer."

And of course...the Great J-Bini (a.k.a. Josh) had to do a little of his own magic

Surrounded with love from his parents, grandparents and a few cousins too

We love you all so very much!!!

Wednesday, September 26, 2012

Sleep Issues and Seizures

As you've heard me mention before, Jake's been having sleeping issues for quite a while now and over the past two months it hasn't really improved. Our evening strolls helped for a bit, but then things kind of reverted back. Jake has a very difficult time settling down at night and despite our best efforts to snuggle, sing, rock and pat his tooshie to sleep...it still takes about two hours of restless whining for him to drift off to sleep. He has also been waking up several times each night, so Josh and I have been taking turns "on duty" to put him back to sleep. It came to the point where we realized that Jake probably needed something to help him sleep. We made it almost two full years without the regular use of any medication and were reluctant to start him on anything that would alter our little man's personality or make him super groggy, but we know it is better than him not getting the sleep he needs. That said, we started Jake on a very low dose of Clonodine (a blood pressure medication) about two weeks ago and so far it has helped with the restlessness, while allowing him to sleep better through the night.

Not even his favorite bedtime friend Ele could convince him to go to sleep

What most of you haven't heard about is Jacob's seizures. We've been hesitant to share this information until we got final confirmation about Jacob's "episodes", but last week I had a long late-night conversation with his neurologist that confirmed Jacob has indeed been having seizures. Shortly after Jacob had his bout with RSV (early February), he began having these very startled responses where his eyes would get very wide, he'd clench his teeth, and his arms would extend out at his sides. It was as if we had frightened the heck out of him and believe me, it frighted the heck out of us!! At first, we thought we had accidentally scared him. We soon became disheartened to know that some of Jake's favorite activities, like waving a blanket over him to play peek-a-boo, were actually triggering the startled responses, so we were VERY careful not to do anything that might startle him. We also started telling Jake when we were going to pick him up, so that he wouldn't be caught off guard since we had also witnessed the same response when suddenly lifting him out of the tub or from his changing table.

It wasn't until my Mom (a nurse) was over one evening, while Jake was eating dinner and he had a very bad startle reaction, that we realized his responses were probably seizures. I immediately called his doctor and she indicated that they might be myocolonic seizures, but since they weren't occurring too frequently, she suggested monitoring the seizure-like episodes for a while. We began keeping a record of these seizure-like responses and discussed things with Jake's doctor in August. At the time, she thought maybe Jake was just having exaggerated startle responses. Josh and I were okay with that explanation since his activity hadn't been too bad and they only seemed to bother him for a moment. Unfortunately, two days later I witnessed two very different types of episodes:

  • After his nap he was a little whiny, so I put him on a blanket to play and he began crying. I then noticed irregular eye movements -  his eyes were gazing in different directions off to the side, but his eyes were open. I got close down to him to hold him, but he kept crying and his eyes continued the weird gazing for several more seconds. This occurrence seemed to bother him a lot! 

  • After Jake's bath one evening, I was drying him off and he all of the sudden got a huge smile on his face and began giggling and laughing out loud. He had not giggled in 6+months! At first I was very excited to see his reaction, but then I noticed his eyes were gazing in different directions, almost as if he wasn't really present in the moment. I cried that night knowing that things were changing and worsening way too quickly!

  • At this point, I was convinced he was having seizures! I may not have a medical degree, but I know my son better than anybody. I phoned his neurologist the following day and also contacted Dr. Wasserstein at Mt. Sinai in New York to seek her advice. As follow-up, we were going to schedule Jake for an EEG, but after speaking with his neurologist determined that it would be very hard to pinpoint the seizure activity since they did not occur on a regular basis. Based on what I had described, Jake's neurologist was now convinced that he is in fact, having seizures. Unfortunately, over the past few weeks we have noticed that his seizures have picked up in frequency (now daily) and we feel they are affecting his overall quality of life, since he becomes pretty agitated and upset for a while after having a seizure. We have also witnessed Jake having seizures at night, which cause him to wake up from his sleep. We put two-and-two together and realized that these seizures could also be the exact reason why he is having so much difficulty sleeping.

    As of Monday, Jacob is now taking anti-seizure medicine (a generic form of Keppra) twice a day via his G-tube. It is a very commonly prescribed medication to those with certain types of seizures and has very few side-effects. In fact, I just spoke with another NPD momma the other day and she spoke very highly of the benefits that this medication had on her son Wylder. We are very hopeful that this medicine will help Jacob avoid having frequent seizures and we want to do everything we can to keep him comfortable and pain free. It is so very difficult to know how the seizures truly affect him, but we know prevention is key in this case. Right now we're in an adjustment phase as his body gets used to the new meds and he's been waking up several times each night. Please keep your fingers crossed that this medication helps!

    Jake's new meds and a new part of his (our) daily routine

    Monday, September 24, 2012

    Party Time!!

    We had a wonderful time celebrating Jakers 2nd birthday!! On Thursday (his actual birthday), Josh took the night off from work and we took Jake out to dinner -- well, more like dessert. Jake's most favorite dessert is creme brulee, so we took him to a nearby Italian restaurant to get his special treat. Once we got home, we opened some of his presents and let him play with the balloons his therapist brought him earlier in the day. He loved seeing all of his gifts, but [like most kids] he especially loved the tissue paper. Apparently, crinkly paper sounds are quite entertaining and we got a few great big laughs!

    Sunday was Jake's big birthday bash! We had a cookie monster themed party and of course, there were plenty of COOKIES!!! Despite being a bit on the sleepy side, Jake actually did very well with a crowded house filled with our closest family and he enjoyed his special day. Jakers got lots of great presents, including tons of new clothes to complete his Fall/Winter wardrobe. We even welcomed the newest addition to Jake's toy collection...a giant stuffed lion!!

    Here are a few pics from the party:
    The invitation: Apparently, more than a few people were a little confused with the invite, which said the party was at "The Cookie Factory" and listed our address. Nobody seemed to know where it was...probably because it didn't exist. The party was at our house! We had quite a few laughs at all the confusion.

    I warned you that Momma got crafty for the occasion

    Cookie monster cupcakes

    Cookie Bar - Mmmmm!

    A little taste of frosting

    Jake's new lion photo bombed our family pic

    One of Jake's  most favorite toys, which he got for his 1st birthday. This cookie monster even eats cookies!

    Oooh, new Niner gear!!! Yes!!!

    Hanging out with Great Grandma Sharon and Great Grandpa Jim

    Lovin' all the attention from his cousins Kayla, Abby and Hailey

    As if there weren't enough cookies, we sent everyone home with a cookie favor too!
    As cookie monster would say, "Om! Nom! Nom!"

    Wednesday, September 19, 2012

    Birthday Wishes

    "On the night you were born, the world smiled with such wonder that the stars peeked into see you and the night wind whispered 'Life will never be the same.'

    Because there had never been anyone like you...ever in the world"

    - Nancy Tillman

    Tomorrow is a very, very special day...it's Jacob's 2nd BIRTHDAY!!! Exactly two years ago today, we were in the delivery room anxiously awaiting the arrival of our very first baby, while some of our closest family members sat in the nearby waiting room fighting to stay awake into the wee hours of the night. After 30 hours (yep, 30) of labor, we finally got to meet our little bundle of boy! Despite being 3 weeks early, he was a healthy 7 pounds, 5 ounces and 20 1/2 inches long...absolutely perfect! It was love at first sight!

    Jacob Lee Brooks

    First family photo

    It's so hard to believe that our little man is already 2 years old! These last two years have been the most wonderful years of our lives, filled with an immense amount of love that we never imagined could be devoted to one single person. Even despite the the difficult health challenges we have faced with Jacob over the past year or so, we have persevered and managed to find joy in every single day -- that JOY comes from our Jacob. Even the smallest smile from Jake can brighten up our entire day.

    We will be celebrating this momentous occasion with a cookie monster themed birthday party this weekend along with our immediate family. It'll be hard to top last year's storybook themed birthday party, when we celebrated with 100 of our closest family members and friends, but it will be just as special! I've been getting crafty every night (thanks to Pinterest) after Jake goes to sleep and we're super excited for Sunday to arrive. I promise to post pics : )

    Digging into his 1st birthday cake

    Post-story time with Mother Goose last year - most of the kiddos got in the picture
    With Jacob's disease it is impossible to predict what this next year will bring, but we promise to fill each day with all the love our hearts can possibly give. Our special birthday wish for Jacob is to continue to provide him with as much of a 'normal' life as possible, whatever that may be. We look forward to him being a big brother and can't wait to go on new adventures!

    Happy birthday to our pride and joy! Momma and Daddy LOVE you sooooooooo, sooooo, very much!!!


    Sunday, September 16, 2012

    TRI'ing to Raise Awareness

    One week from today, Jacob's Auntie "Cake" (Kate) will be racing in the Virgin Active London Triathlon Olympic Distance in honor of Jacob. She has been using Facebook and an online fundraiser page to help raise awareness for this devastating disease, while also raising funds for the Niemann-Pick Foundation in the UK. Kate told us about her event several months ago and we were so touched to know that she would be racing this event for our little man. It makes our hearts happy to know that Jake is inspiring others to take on such personal challenges in support of a cause so near and dear to us.
    As we celebrate Jake's 2nd birthday this weekend with close family, Auntie Kate will be partaking in the triathlon and raising awareness every stroke, pedal and step of the way...we couldn't think of a better gift!

    If you are interested in donating to a wonderful cause, please visit her fundraiser page: http://www.justgiving.com/justforjake

    and if you'd like to leave her an encouraging message feel free to leave a comment on the blog, so she can read about all those supporting her, Jake and a future cure for Niemann-Pick Disease!
    Auntie Cake holding Jake on his very 1st Christmas

    Sunday, September 9, 2012

    Save the Date: Family & Friends Fundraiser

    Please SAVE THE DATE...We will be holding a fundraiser for Jacob on the afternoon of Saturday, September 29th, with a percentage of donations going to the National Niemann-Pick Disease Foundation. All of our family and close friends will be invited to share in a special day filled with food, music, kids activities, raffle prizes and fun! We will be following up with an evite later this week, which will have all the event details. Looking forward to a special day in honor of the little man we love so much!!

    Wednesday, September 5, 2012

    We've Got a 22 Pounder!!

    Yippee!! We took Jake in for his routine check-up with his GI doc last week and were pleasantly surprised to hear that he weighed in at a whopping 22 pounds! It may be towards the bottom percentile of the growth chart, but he's still on the chart and he's gaining weight! This is a huge feat and something we have been working so diligently to achieve. After Jake's bout with RSV he lost a significant amount of weight and has been lingering between 20-21 pounds for months! With the G-tube he has finally gained weight!! Better yet, his vomiting has been virtually non-existent for weeks and once we switched to Pediasure with fiber his GI system seems to be working just fine...if you know what I mean.

    Right now, Jake's on a 40 ml/hour overnight feed rate for 10 hours. He basically gets close to 2 full Pediasure bottles at night. Jake also still gets his two sit down meals a day that consist of all pureed food. He drinks much less from the bottle during the day, but that has helped his vomiting issues so he's getting more of the nutrition and we get less clean up. We are starting to do small bolus feedings during the day to help add a few extra calories and increase his water intake. Aside from that, his doctor was impressed with how well Jake is doing. It feels so good to know he's getting the proper nutrition.

    Aside from gaining weight, Jake's actually growing all-around. In fact, he outgrew his G-tube so we had to order him a larger size to go deeper into his tummy. We were having issues the past few weeks with his G-tube leaking at night and it was not a fun mess to clean up in the morning -- gunky shirts and wet sheets from the fluid leaking. I think I went through an entire bottle of stain remover! Needless to say, his GI doc took some measurements and sure enough...he needed the next size up on the G-tube. Josh took Jake in today to have his new G-tube placed (simple office procedure - pull one out and plop the other in), but to err on the side of caution, we let the expert do it.

    Post bath photo shoot - love that little tummy
    The only bummer is that Jake's GI doctor is closing his practice and moving to Dubai to start up a new GI clinic. We are super sad to see him go because he has taken such good care of Jake over the past year. Dr. Haddad helped us to get Jake's disease diagnosis and spent countless hours researching/contacting specialists across the country to ensure he was providing Jake with the best care he could. We have greatly appreciated his support and will miss him. In the meantime, we've already connected Jake with another GI doc at Children's Hospital and are hopeful that she'll take good care of our little man too.

    New G-tube - it's a little red because the stoma site has been leaking at night

    Tuesday, September 4, 2012

    Big Trees & Sea Adventures

    Over the 3-day weekend we decided to take the little man on an adventure to see the redwoods in the Santa Cruz Mountains and have a little seaside fun down in Capitola, CA. Good times!!! Jake has always loved trees and really enjoys just looking at them. We're not exactly sure why, but trees just seem to captivate Jake's attention and we thought it would be a fun for him to see some BIG trees. We originally wanted to take Jake for a train-ride through the Santa Cruz mountains on the Roaring Camp Railroad steam train, but decided the hour plus open-car ride might be too overwhelming for him. Alternatively, we decided to take a nice walk through the Henry Cowell Redwoods State Park. Jake LOVED it!!! He was totally enthralled walking through the forest and laughed out load a few times. We also got a chance to watch the steam trains while stopping by the Roaring Camp Railroad area (right next to the state park). For anyone with little kiddos, I would highly recommend this weekend adventure.

    Ba -- na-- na--SLUG! We found a fake banana slug in the visitor center, so we posed him with Jake.

    Jake and Momma checking out the trees

    Jake and Daddy standing by the BIGGEST tree in the Henry Cowell Redwood State Park

    Checking out the view from below

    Daddy insisted on having a caricature picture drawn of Jake by the "fastest draw in the West"

    On Saturday evening, we headed out for dinner at the Santa Cruz Wharf and saw a mother otter with her little pup snuggled up on her chest just floating along. It was soooo cute and reminded me of snuggle time with the little man! After dinner, we enjoyed a nighttime walk along the Santa Cruz beach boardwalk. Okay, I admit it...Jake's baby sister-to-be really wanted a caramel apple (hehe)!! Even though it was well-past Jakers bedtime, he was wide-awake and kicking his legs in the stroller as we walked past all of the bright lights and enjoyed the sounds of the whizzing rides. We were amazed at how well he did with such a long day of fun!

    Boardwalk at night with a nice bright full moon

    The next day we took off for Capitola, which was wayyyyy overcrowded because of the 3-day weekend and the Begonia Festival. Jake was pretty fussy in the car, so we pulled over to feed him and switched up our game plan a bit. Thanks to the iPhone, we found out that New Brighton State Beach was only a few miles away and headed there. The weather was fantastic! Josh scoped out the beach and found a nice spot to set up our beach tent. Special thanks to a kind man named Henry who helped set up our (not so easy to assemble) tent. Once we settled into our cozy beach tent, I guess Jake felt pretty relaxed because he pretty much snoozed the entire time we were there. The long beach snooze helped a bit with the longggg ride home and fortunately, our new beach pal gave us some tips for a beautiful scenic shortcut that helped us bypass a couple extra hours of weekend traffic! Jake definitely has a difficult time riding in the car, but we have just learned to make several stops along the way to ensure that he is as comfortable as possible. As soon as we got home that night, he was instantly put at ease and was all smiley...home sweet home.

    Overall, another great adventure!