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.

Monday, February 25, 2013

7,000 Bracelets for Hope

Some time ago (before I got pregnant with Kelly), I had connected with a genetic counselor who was very interested in hearing about our family's experience caring for a child with a rare disease. The counselor had been conducting some research for the Global Genes Project, which is a wonderful non-profit organization providing patient advocacy for people/families affected by rare and genetic disease diseases. FYI - If you've been following the blog, you've probably heard me mention this organization before. Well, after speaking with this genetic counselor, I got in touch with the organization to learn more about it. From that point, I was inspired to share Jacob's story in an effort to raise awareness and support for Niemann-Pick Disease, in hopes that it will somehow/someway lead to a cure. That was nearly one year ago, on Rare Disease Day.

One of the awareness efforts that the Global Genes Project is currently running, is the 7,000 Bracelets for Hope campaign. The number 7,000 represents the 7,000 different rare diseases that impact approximately 30 million Americans, including our little angel Jacob. People from all over the United States donate beautiful handmade blue bracelets, which are then gifted to those affected by a rare disease. The blue color comes from the connection to blue jeans; sort of a play on words with "genes", since most rare diseases are caused by faulty genes. We submitted a request to receive bracelets and just happened to get our bracelets in the mail just in time to wear them at Jacob's Family & Friends fundraiser back in September. The bracelets are such a special and meaningful gift that connects us to a very important cause, while at the same time raising awareness. I wear my bracelet for hope along with my Joy of Jacob wristband and other bracelets that I've been gifted -- a simple way to show support for those afflicted with rare diseases and most importantly, to serve as a visual token of my love for my little angel Jakey.

I should also add that I connected with the designer (donor) of this bracelet via e-mail shortly after Jacob passed, just to thank her and let her know how much her small act of kindness meant to me. In return, I received the most thoughtful e-mail response from her...thanking ME?? She had spent over an hour and a half on Jacob's blog reading about our journey with Niemann-Pick. I later found out that she had made a donation in Jacob's memory to the Niemann-Pick Disease Foundation -- so incredible! The kindness and generosity we have experienced through everything with Jacob has taught us many things...
  • Sometimes it's the little things, that mean the most
  • No act of kindness (no matter how small), is ever wasted
  • Never underestimate the kindness of strangers
My beautiful bracelet for HOPE, complete with a little angel and reminder to keep the faith.

The Global Genes Project promotes that "Unity creates HOPE," so I encourage you to visit their website, 'friend' them on Facebook, and if you're super crafty, perhaps you can even donate a special bracelet or two to those affected by rare diseases.

** Reminder: Don't forget to WEAR THAT YOU CARE this Thursday, February 28th. Rock those jeans and sport your Joy of Jacob wristbands to help raise awareness for Niemann-Pick Disease and other rare diseases. **

Monday, February 18, 2013

Wear That You Care

We need your help!! On Thursday, February 28th, we'd like to ask that all of our friends, family and Jacob supporters join us in observing Rare Disease Day.

World Rare Disease Day is an annual observance held on the last day of February (February 28th or February 29th in a Leap Year -- a rare day) to raise awareness for rare diseases and improve access to treatments and medical representation for individuals with rare and genetic diseases and their families.

For those of you who have followed Jacob's blog, you probably already know that Niemann-Pick Disease is among one of the 7,000 rare diseases that exist. Jake was one of only four children in the United States living with Niemann-Pick type A before this horrid disease took him from us. The National Institutes of Health estimates that 50% of people affected by rare diseases are children, making rare diseases one of the most deadly and debilitating for children worldwide. Let's raise some awareness so that we don't have to read awful statistics like this. Better yet, let's raise some awareness so that some day children like Jacob will no longer have to suffer from rare disease because there will be better genetic testing, more research, actual treatments, and CURES!!

So, what can you do to show your support??
  • Post Jacob's picture on your Facebook page. Heck, use it as your profile picture for even more exposure! Make sure to tag @GlobalGenes in all your pictures
  • Wear your blue Joy of Jacob PERSEVERE wristband(s) and post pics to my/your Facebook page wearing them along with messages of support for Rare Disease Day. Send me an e-mail ASAP if you need a wristband...we still have a few left.

  • Join the Global Gene's Project's Wear That You Care movement and wear your favorite pair of blue jeans in support of rare and genetic disease awareness.
  • If you're so inclined, make a donation to the National Niemann-Pick Disease Foundation in memory of our little angel Jacob. Donate here: National Niemann-Pick Disease Foundation
"Be the change you wish to see in the world." - Ghandi

Thursday, February 14, 2013

All You Need Is Love

Exactly three years ago today on Valentine's Day, we shared the most wonderful surprise with our families...we were going to have a baby!!! About 7 months later, we welcomed our sweet baby boy Jacob into the world. Jacob opened up our hearts to a love that knew no limits and filled our lives with an insurmountable amount of joy. He taught us what it feels like to love unconditionally.

"I'll love you forever,
I'll like you for always,
As long as I'm living,
my baby you'll be."
                                           - Robet Munsch
We went to visit Jake today and found a wonderful Snoopy mailbox filled with love notes -- so much love for our little man! It always makes our hearts happy to know that others are thinking of our Jakey. But what's even better...is to get signs from our little angel letting us know he's thinking of us. Our special Valentine's Day treat came in the form of a song, as 'Amazing Grace' chimed over the cemetery, echoeing between the rolling green hills on this beautiful sunny day. We visit Jake all the time and this is this very first time we've heard music play through the cemetary. Our little angel never ceases to amaze me. It was a beautiful moment in time spent with the three loves of my life; Josh, Jake and Kelly.

Filled with little love notes - so sweet!
Wishing all of our family and friends a wonderful Valentine's Day filled with happy moments spent with those you love most!

Love you Forever Jakey Boy!

Wednesday, February 13, 2013

The Best Therapy of All

When Jake was about 4 months old, his pediatrician noticed that his head had some mild flattening on one side, which was due to a condition called positional plagiocephaly. We met with a neurosurgeon to have him evaluated and had an ultrasound of his head done to rule out hydrocephalus. So many scary thoughts went through our minds during that time. Although Jake did have a higher amount of cerebrospinal fluid, they ruled out hydrocephalus and our minds were put at ease. We were told to focus on "tummy time" and head positioning, so that he didn't spend so much time on his back. If we did not work quickly to reverse the flattening, we were told that Jake would require a helmet (temporarily) to help re-shape his head. At that time, we felt that was so incredibly awful...our child would have to wear a helmet!?! What were people going to think...what mean things would they say about our sweet boy?

If only we knew then how silly it was to worry about something so trivial as a helmet. Do you know what we would have given for a helmet to be our biggest worry?

From that point, we began taking Jake to physical therapy at Children's Hospital Oakland in order to help us with positioning Jake and working with him to improve his tolerance for tummy time, which he absolutely HATED! After several sessions, it became apparent that Jake had low muscle tone, so we also began focusing on other exercises to help with his head control (e.g. holding his head up straight) and strengthening to help with getting him to bare weight on his legs, as well as focus on sitting. We spent MANY, MANY hours at home working with Jake, which were filled with MANY, MANY tears from Jake who hated doing all the exercises and being pushed to do things he didn't like. We also encountered barriers to getting therapy approved since Jake didn't have any sort of diagnosis that would require therapy, so like most of his health care needs...we had to fight for it!

It wasn't until we received his Niemann-Pick diagnosis that we realized why these skills were so difficult for Jake. Jacob's low tone was part of his disease. Our hearts sank when we realized that many of these tummy time exercises were probably uncomfortable for him due to his enlarged liver and spleen. It's no wonder that he cried at every physical therapy appointment. In fact, it got to the point where we didn't even want to take him to therapy because it was so exhausting and tear filled; basically a giant waste of time! We had to bring him out of the house; drive 45 minutes (each way); feed him before his appointments, so he was content; carry him over to the main hospital through germ filled areas; all that -- just to endure 5 minutes of actual quality therapy that we could do ourselves at home. Yet, we knew Jake needed to continue on with therapy to ensure he gained new skills and progressed developmentally. Did I mention the scheduling difficulty due to lack of pediatric physical therapists?? It was so discouraging!

Right around that time, we were working with the Regional Center of the East Bay to initiate services for Jacob to better meet his specific needs. We were approved for in-home infant development therapy, which meant a certified occupational therapist would come to our home to work with Jake...no more messing with Jake's schedule, dragging him to appointments he hated and risking exposing him to other kid's germs. This was great news!!

Shortly before Jake's 1st birthday, Jake's amazing therapist Christina walked into our front door and turned things around! From day one, we knew she was the perfect fit for our little man. Tear filled sessions turned into smile filled play-time with Christina -- Jake just loved her and so did we! Christina came to visit twice a week for over a year and was patient, kind, understanding, and loving to our family. She worked with us to find different and fun ways to engage Jacob in play that would help his overall development; from physical skills to communication skills. She came up with different ways to help Jake with tummy time, which included a giant therapy ball, a Bosu ball, mirrors, boppy pillows, rolled up blankets...you name it, we tried it!

This is "Rody", an inflated rocking horse used to help with balance and coordination. He was more commonly known in our house as "Crazy Rody" or the "donkey on crack". Let's be honest...it is not a good looking toy, but Jakey loved bouncing on him and it helped a lot with his balance.

Jake never was able to talk, so Christina worked with us to better focus in on ways that he WAS ABLE to communicate with us, such as kicking his legs in excitement when he like things and wanted us to do something "again" (one of our words that we used for queuing an activity). I know Christina is probably reading this now with a great big smile remembering all of our happy moments playing peek-a-boo with Jakey : )

Christina got Jake this awesome blue chair to offer an alternate way to keep him off the floor, while supporting him.  He loved sitting in his chair and banging away on his xylophone during his therapy sessions.
Jake using his Z-vibe, which helped with oral stimulation. We realized he had some oral sensory issues that caused him to gag, so we used the Z-vibe to help. He ended up LOVING this thing!

It wasn't all fun and games -- therapy did require a lot of work from Jake and us. We had to practice these various learning opportunities and recommendations every day/several times a day! Each visit, Christina would write down the things we needed to try and focus on. Jacob went through periods of great progress and then we would see periods of skill regression, which was always so hard to see. However, Christina would always adjust the routines and we'd come up with new ways to engage Jake in play. She was also the first person we asked to help us navigate through selecting adaptive equipment that Jake needed, such as a bath chair and wrist splints.

Christina brought Jake a bunch of balloons for his 2nd birthday! You can see his favorite switch toy in this pic...yet another fun idea to engage Jake with super touch sensitive toys that came in handy as Jake's disease progressed.
Jake wasn't too thrilled about his wrist splints, but they helped with the muscle tightening and wrist curvature that worsened as Jake's disease progressed.

I've wanted to write a post about Jacob's therapy for quite some time, since his infant development therapy was an integral part of our daily routine for most of Jake's life; during the course of which, Christina became a dear friend -- an extended member of our family. In fact, just yesterday she came for a visit to meet the newest member of our family, miss Kelly Joy!

Our favorite therapist Christina playing with Kelly. We are so bummed that we don't even have one picture of Jake and Christina together. Josh would be there for a lot of Jake's therapy visits since I worked during the day, so Christina would often text me pictures and updates. I'm glad we at least got pictures of him trying out the many different approaches to play and development that Christina came up with.

This blog post is more of a 'thank you' to Christina, who opened her heart to Jacob and our family. We are so very grateful that she came into our lives! We have met some incredibly wonderful and loving people that helped support us through our journey with Jacob and Christina is at the very top of that list. She was by our side with every new milestone, cheering Jake on, as well as with every struggle and set-back...still persevering along with us and cheering Jake on!

If you're ever in need of a good therapist...the pediatric occupational kind, not the 'sit on the couch with a box of Kleenex kind' -- Christina is AMAZING!! Sorry, shameless plug for Christina because she is so wonderful and she recently started her own independent practice.

Child's Play Occupational Therapy Services

Tuesday, February 5, 2013

Sweet Quinn

I'd like to introduce you to one of our most special little friends, miss Quinn Linzer.

Isn't she a cutie-pa-tootie!?!
Like Jacob, Quinn also has Niemann-Pick Disease type A and is one of only three children in the United States currently living with the disease. Although we have never met, we are closely tied to Quinn and her family because of this horrid disease. The only good thing to come from Niemann-Pick is the unbelievable amount of love and support that each of these families offers one another, a true extension of our own families.

We were connected with the Linzer family late last summer and have been following Quinn's blog since day one -- Linzer Party of Five. Quinn's parents started an amazing bucket list of 'to do's' for their little cutie to ensure that she lives a "wonderFULL" life -- read about Quinn's list. It is such an amazing idea! In fact, our own little man Jacob had a role in helping Quinn accomplish one of  her 'to do's' just this last weekend...a trip to FAO Schwarz, which is something we did with Jacob when we traveled to New York to visit the specialist at Mount Sinai. I had tears of JOY reading that blog over the weekend. Josh and I were so incredibly touched to hear what great memories the Linzer family made that day, knowing how special our memories are with Jakey. It was also so good to hear that Quinn was doing so well after her recent G-tube surgery. Well, things took a bit of a turn this week and Quinn is in need of some good thoughts and prayers as she's currently in the hospital after experiencing some serious complications.

This little sweetie has a lot more wonderFULL things to accomplish on her 'list' and the Linzer family deserves a lot more time to love, snuggle, and enjoy their precious daughter. Please send good thoughts, well-wishes and prayers to miss Quinn and the Linzer family. Thank you!!!!

Saturday, February 2, 2013

Faithful Fan

Are you ready for some football!?!

Jakey playing with his nerf football...true football fan!

Tomorrow is what we (me especially) consider to be one of the most amazing and wonderful days of sports...the day the 49ers are back in the Super Bowl for their 6th WIN!! Coming from a family with three generations full of Forty Niner Faithfuls, going to Super Bowl XLVII is something that brings a great deal of joy. It's also something that has brought about a lot of emotions for me the last couple of weeks, as I am missing my little Niner fan something fierce! Of course, Josh will claim that Jake was more of a Raiders fan, but I write the blog soooo...

During football season, Sunday's were always a day that we cuddled up with our little split team fan and rooted on our favorite teams. We often had battles over which team Jake would be representing that day and I can tell you that Josh was never so eager to change a diaper in hopes that he could beat me to dressing Jakey up in some Raider duds -- pun intended!

In honor of this momentous occasion, I thought I'd post some pics of our little angel proudly sporting his Niner gear!
Jake's 1st football Sunday at home with Momma and Grandpa D. Celebrating a 4th generation of 49er Faithfuls

Snuggled up with his favorite blanket

One of Jake's many 49er outfits over the years

Silly Daddy trying to take off Jakey's Niner jersey, but Momma's smart and dressed him in layers

Okay, Daddy obviously dressed him this day!

Sitting in his special chair watching the game

We visited Jakey yesterday and brought him his special football for good luck! As you can see, someone beat us to the punch and one-upped us with a great 49er shaped football balloon. We'll be cheering on the Niners to victory tomorrow knowing our little angel is with his great-grandparents up in Heaven cheering...Go NINERS!!!

Baby sis Kelly holding Jake's favorite football