NNPDF Conference 2014

Last week Josh, Kelly and I attended the 22nd annual National Niemann-Pick Disease Foundation (NNPDF) family conference. We have wanted to attend since Jake was diagnosed with Niemann-Pick Disease in 2011; unfortunately, timing, declining health, and travel to the East Coast just weren't in our favor. Thankfully, a mere three weeks from my due date, we were fortunate that the conference took place in the San Francisco Bay Area (a short hour drive from us), so that we could attend. The conference happened to fall amidst Josh's birthday and although we knew it wouldn't exactly be the most joyous of occasions, we felt a strong desire to be present and represent the type A kiddos. Jakey and all the other NPA affected children need us to continue to be the advocates for treatments and a cure, so that other children/families don't have to experience what we have gone through.

I honestly cannot say that I was excited to attend the conference, but I knew in my heart it was where we needed to be. That said, I was most certainly anticipating the opportunity to finally meet in-person many of the families that we've mostly only connected with via social media, especially the Laffoon family (Wylder's parents and little brother). The Laffoon family has created the Wylder Nation Foundation, which aims to "accelerate the discovery and treatment options for children with lysosomal storage disorders." We had been waiting to hear more about the amazing efforts they're putting forth in honor of their son. We also met the Hopkin family, whose son Garrett has NPA. It was actually the first I had heard about Garrett, so I think I speak for both Josh and I when I say that we were really taken back to meet another adorable boy affected by this disease. Kelly, being a one-year-old, was quite taken with Garrett's Mickey Mouse attire and enjoyed chasing him around.

Before the conference, we had only ever met one family/child affected by Niemann-Pick - Amber Jelsma and her parents. Given the rarity and severity of the disease, it's an extremely rare occurrence for two NPA children to meet in person. To our knowledge, there are currently only four children in the world (yes, world) living with NPA; two in the United States, one in Russia, and one in Portugal. 

Frankly, this type of conference isn't one that any parent or family member would have the desire to attend. It's not the typical parental connection that most people are familiar with, like PTA meetings, little league, or park play dates. Our connections are much deeper, rooted in the care of our children who have been devastatingly affected by a horrible disease that we all hate! These families have offered us a level of emotional support that few others have been able to, because they understand firsthand what we've gone through and will continue to live with for the rest of our lives. It's hard to describe, but it was a very fulfilling experience to connect with other families and be able to talk so openly about our experiences, as well as share memories of our children. For us, this was the most beneficial reason for attending.

The more scientific and medically-based focus of the conference was also helpful, as was the opportunity to speak with physician specialists. We also heard from representatives from the FDA and Genzyme, one of the world's leading biotech companies. There are clinical trials underway for enzyme replacement therapy to treat Acid Sphingomyelinase Deficiency (ASMD), which is what many of us more commonly refer to as Niemann-Pick type A and B. There is a disease spectrum that presents itself in variable forms, with rapid, progressive, neurologic decline in the most severe forms of the disease [the form Jake had] to less-severe/moderate forms of the disease that affect those during childhood with little-to-no neurologic decline. We met adults with the disease who are currently in the trial at Mount Sinai in NY, where we took Jake to be evaluated. At this time, the focus really seems to be on the treatment of non-neurologically impacted adult patients with pediatric trials to start in 2015. Initial feedback is very positive, but official trial results have not yet been published. There remains the issue of crossing the blood brain barrier, so those with neurologic decline are excluded from the trials at this time. While it's great to know that progress is being made in the right direction, it's simultaneously frustrating and disappointing to hear that there still is no option for children like Jake who are suffering more from the neurologic decline of the disease. There is most certainly a need for continued research and development for NPD. That said, we are even more encouraged by the efforts of Wylder Nation Foundation that are helping to drive focus and resources toward accelerating treatment options for ASMD.

Hopkin, Laffoon and Brooks Families.
Photo cred: Levi Gershkowitz ~ his Living in the Light of Rare and Orphan Diseases project is truly inspiring. He was kind enough to take a group shot of our families, as part of the photo documentation of the annual conference.

Candle lighting ceremony in memory of all those who have earned their angel wings over the past year. Incredibly emotional, but signifies the exact reason we all need to be together in support of each other and a cure for NPD.

Two very special NPA angels honored during the candle ceremony ~ Amber Jelsma and Quinn Linzer.

Kelly rockin' her superhero tutu and picture frame that she made in the childcare room. During the conference, family members volunteer to help watch children while parents attend the various conference events. We didn't plan to leave Kelly, but they had an amazing set-up and 1:1 care. She spent a couple hours playing each day and LOVED it! It allowed Josh and I to be together to connect with other parents and listen to disease related presentations.

Rainbow babies Kelly Joy and Koa (Wylder's little bro). Kelly spent quite a bit of time checking out "baby" Koa. He's quite a handsome little guy.

We went to dinner with the Hopkin and Laffoon families. Of course, Josh brought his magic along with him and Garrett was pretty impressed.

Here's Shannon showing off her magic skills for little miss Kelly.

An extra sweet birthday treat for Josh from a special angel named Wylder. Can you believe he didn't even share any with his preggo wife? It was obviously very delicious.

On the last night of the conference, there was a dinner and dancing celebration for all the families. We got a group shot of many of the children at the NNPDF conference, as well as the awesome childcare volunteers. There was a superhero theme, so many of the kiddos were dressed accordingly with superhero shirts, capes, and tutus.

Kelly dancing the night away with her new friend Kalia, who was super sweet and helped us round miss Kelly up quite a few times. Kalia has NPD type B and we met her parents during the conference.

Overall, we are so very glad we had the opportunity to attend the annual NNPDF Conference and plan to attend in future years. We feel we owe this to Jake and ourselves to remain active participants in the NPD community, so that we can help support other families and more importantly, support the continuation of research & development for NPD treatments and one-day a cure.

Memory Quilt Made With Love

I've been so excited to share something very, very special that I have been working on for many months with a LOT of help from my Grams. The "lot" is bolded and underlined because I truly could not have completed this project without her guidance and crafty hands. I will preface this blog by saying this 'project' --  more a labor of love, is something that I have wanted to do since Jakey earned his angel wings, but something that took me over a year to finally start because -- I just wasn't ready. After scouring Pinterest boards, purchasing books and Google searches galore, I realized that I wasn't prepared to part with the pieces of Jake that would soon be put to a better purpose. Shortly after the first of the year I decided that with a baby on the way, it was important to complete this project so that I could have something that was more tangible than a picture to hold onto when I was missing my baby so much and something meaningful to share with our kiddos. With that said, here it is...Jacob's Memory Quilt.

We LOVE it!! Every fabric chosen has a memory attached to it. Every cut and every stitch was filled with love.

I took pictures throughout the memory quilt making process because I thought it would be nice to share with other families who might be considering making a quilt of their own in memory of a loved one. Creating a quilt like this is a true labor of love and for me, it was filled with a tremendous amount of emotions. Part of the reason I waited so long to start the quilt was because Jakey's clothes still smelled like him - something I could not bare to part with. The irony is that the scent that lingered longest was actually from permanent stains in his clothes where his g-tube had leaked onto his PJ's and blankets during overnight feeds, which happened nearly every night when his body had started to slowly shut down. We adjusted feed amounts to deter that from happening, but it was just a part of his NPA progression. Crazy that a thing like that was something I felt the need to hold onto. 

Picking out shirts. I had gone through all of Jake's clothes well over a year ago and selected some of the outfits that held the most special memories or significance. Our "little man" loved music and strumming the guitar with his grandpas. He was also a big Niner fan (and Raider fan too - Josh made sure of that).

Some of the border fabric that I chose...music notes, because he loved music.

Gasp...1st cut into the shirts. It was VERY difficult for me to cut the shirts up. We cut the backs and arms off each shirt as a first step to prepare the fabric to be cut into squares.

My grandma Sharon (a.k.a. "Grams") teaching me how to measure and cut out the squares of fabric to be pieced together for the quilt. This part took a looooong time. With a one-year old racing around the house we also had to be careful to hide the rotary blade from slicing off little fingers, eh, who am I kidding...I had to make sure I didn't cut off my own fingers!

Jaker's favorite cartoon - SpongeBob Squarepants. Jake's Great-Grandma Jeanne brought these jammies for him on one of her trips to visit. I don't think she even knew how much he loved his SpongeBob. This also happens to be Kelly's newest obsession, so it's by far her favorite part of the quilt.

Since I couldn't iron and take a picture, I'll just tell you that all the shirt pieces were ironed onto a special paper to reduce the amount of stretch/flex in the fabric. We then laid them out on a giant piece of felt on the wall to give us an idea of how we wanted to design and piece it together...by "we", I mean my Grams. She did all the sewing. I'm just not very good on the sewing machine and this wasn't the type of project you re-learn how to sew on. Not much room for mistakes, so I let the master crafter take over. She's been making quilts for years, not to mention sewing, knitting, painting, crafting...you name it, she does it!

Here's the quilt blocks pieced together with all the fabrics and borders We still moved things around a bit after this because we weren't quite committed to the layout. The outside border was a fun checkered pattern, which I chose because Jake used to rock checkered Vans and he liked watching NASCAR with his Grandpa Dennis (hence the Jeff Gordon #24 shirt). We then sent it off  to the quilter - the woman who did the quilting (sewing together of the layers of fabric) used a really neat heart design throughout the entire quilt and hand quilted around certain parts, like the monkey to make the different pieces more pronounced.

Ta-da!!! Had to get a picture of me and my Grams holding this amazing labor of our love. Countless hours went into the making of this treasure, filled with so many special touches. A friend of my Grams even embroidered Jacob's name onto the top in blue, super sweet!

Little sis' Kelly Joy checking out the quilt and admiring her favorite "Bob-bob" (her pronunciation for SpongeBob)

Josh was so excited! He wouldn't let me show him anything throughout the entire process because he wanted to be surprised with the end product. He did help me decide on the fabric for the back. I had spent hours searching for a fabric for the back and narrowed it down to a top 3 list. He liked the elephants the best because it reminded us both of Jacob's favorite stuffed animal, his elephant "Ele."

A closer look at the soft flannel elephant fabric. I especially love how the elephants are snuggled up like we used to with Jake.

One of my favorite parts - a little ladybug love scattered around the edges. These spotted love bugs were my Grams idea because I couldn't find a masculine looking ladybug fabric. She had no idea how many she would do or where she would put them, but ended up with six. I know it's not a coincidence because there were six known children with Niemann-Pick type A living in the U.S. at the time of Jacob's diagnosis.

For the record, every Bay Area football and baseball team is equally represented as Jake was a big sports fan. In fact, the Giants World Series win in 2010 sparked the mustache craze that unbenownst to us would provide some great pics for the Mo'vember fundraiser that was held just a short two years later when Jakey earned his angel wings {mustache shirt proudly represented}. I included a couple pics because I just love seeing my little man with a mustache.

A couple other favorites on the quilt are...

• Jake's 1st birthday shirt and super studly tie, which he wore for his cake smash!
• Jakey's Beatles onesie, which reminds us of his song 'Here Comes the Sun'
• A "teeny weeny kiwi", which we took off an outfit gifted to Jake by Amber Jelsma's (another sweet NPA angel) family when they visited from New Zealand.

Jaker's birthday suit : )

Raider jammies, which were cut into little squares to include in the quilt.

The real superhero in our lives.

The only picture I have of Jake sucking his thumb because it was the only time I ever saw him do this.

And here's why we have the guitars and music well represented on the quilt. Strumming the guitar with Grandpa Dennis

See...Jake couldn't get enough music. Here he is with his Grandpa Paul

First visit to the Zoo in his little monkey outfit

Running for Rare

We're still feeling the love from our incredibly special time spent with friends last weekend. Several months ago one of my best girlfriends, Jen asked me if I'd be interested in running a half marathon in San Francisco. I've run several endurance races in the past and even ran a half-marathon in New Orleans when I was a couple months pregnant with Jake. However, the timing wasn't right and I used my old knee injury as an excuse for not being able to run, knowing that my real reason for not running was because I would be 7 months pregnant by race day. Baby Brooks #3 was still a secret at the time.

Well, a couple months ago it turned into much more than 'just a race'. Jen had gotten together a group of our friends and other Jacob supporters to run in memory of our little angel. She even designed special running tanks with Jacob's picture that say "I'm running for a Rare ANGEL," complete with ladybugs and the words PERSEVERE ~ NPA on the back. Of course, the minute I found out, I broke out into happy tears because I was so honored that my friends would be willing to pursue a challenge of this magnitude fueled by the love they have for our little man. If you've ever run 13.1 miles, then you know it's not an easy task. There were many miles of training runs, sweat, blisters, and happy tears that went into this race.

Needless to say, I knew that even if I couldn't run the race, our family would 100% be there to cheer everyone on as they crossed the finish line! I even managed to squeeze my baby bump into one of the running tanks, because you know I'll be proudly sporting it post baby and pushing a double stroller. Josh and I wanted to support these amazing ladies just as we've felt supported throughout our journey with and without Jacob. Truth be told...we had a great time cheering on all the runners and felt nothing but JOY watching each of our friends race towards the finish line. Several of us even got a chance to share about Jake with people who inquired about our shirts, which always offers an opportunity to raise awareness.

6:00 AM pre-race photo with all the beautiful runners with hearts of gold!

 

A beautiful sunrise to greet the runners and perfect weather! Photo cred goes to Linda, as we were watching the race from our hotel room window when the race started. Kelly needed her rest :)

At the starting line: Tara, Jennifer, Jen, and Shelly

Team Jacob!! Josh stayed up super late making this sign for the race.

Some of our awesome cheering squad. You can always use more cow bell!! Grace and Ela were so proud of their momma!

Jen running towards the finish and setting her own personal best record. Way to PR girlie!!

Post race hugs with a couple of my besties. Kelly's even sporting her cute ladybug dress for the occasion

Look at that enthusiasm! Linda and Shanohn rocked their first half!

One of my favorite moments of the day was when Jen's daughter, Grace grabbed a hold of our friend Linda's hand to run the last mad dash of the race to cross the finish line together. Melt my heart moment!!

These ladies were elated to complete their first half-marathon and I was just on cloud 9 just from watching all my friends achieve their personal goals all in memory of our little angel.

Last Sunday was a day filled with such wonderful memories and loving emotions. Josh and I are so touched that our friends (new found friends too) would push their bodies to the limits and run a race in honor of Jakey. I know they all felt the love surrounding them with each step as our angel was with each and every one of them. I'll say it again...we are beyond blessed to have such amazing friends in our lives, lifting us up and helping to carry us through an often indescribable journey.

Tickled Pink

I had my 20 week ultrasound yesterday and am just 'tickled pink' to share that our family will be expecting a healthy baby GIRL!!! Our little miss is already quite the mover and shaker, so it took the tech a while to catch a clear glimpse. Baby girl Brooks is looking good and measuring right on track! Yay! Yay! Yay!

We're really excited that Kelly will have a little sister so close in age and know they will grow up to be the best of friends. Growing up with three younger brothers, I never got to experience having a sister, so I am thrilled to see what it's going to be like having a house full of girls. I know we've got plenty of girlie clothes and pretty bows just waiting for her arrival. Josh is going to be a bit outnumbered, but if she's anything like her sister, I know our little girl-on-the-way will have Daddy wrapped around her little fingers in no time.
 

Amidst the happy news, I have been overcome with a lot of emotions. Yesterday, it felt like a culmination of thoughts and feelings that I've been holding onto for a long time, finally surfaced. Mostly, I was incredibly sad knowing that Jake is not here with us to share in the excitement. I am devastated once again to know that he will not get to grow up with his little sisters. In my heart, I have always wanted three children and feel like this baby should complete our family, but I know our family will NEVER be complete without our little man Jacob. I can remember being a bit relieved when we found out Kelly was a girl. Deep down I was worried that having a boy might somehow replace my feelings of loss for Jacob, when the time came that he would no longer physically be with us here, even though I knew you can never replace a child. I have some of the same feelings now.


We would like the baby to have her own room, but Josh and I are both struggling with knowing that making space for our new baby will mean removing pieces of Jakey. I am so scared to change anything in his room because I can't fathom taking any more of 'him' away and honestly don't know if I can. 


My heart breaks a little bit more each time someone asks me how many children I have - I hate that question, but moreover, I hate having to answer it. And if one more person tells me how much harder it is to have two children...I honestly might scream!! Do you know how "hard" it is to care for a terminally ill child, knowing there is nothing within your power that you can do to save their life? Our family is blessed beyond measure to have another baby on the way and I am taken back every time I hear such thoughtless comments. I wish more than anything that I already had two children to care for and that I could hold my firstborn every day instead of grieving for him. As life goes on and our family grows, Josh and I will continue to share our memories of Jacob with our girls and make certain that their big brother remains a part of their lives.


Just so many thoughts going on in my mind, it has been overwhelming. Looking forward to our 2nd rainbow baby ~ a double rainbow for our family!

"Rainbow Babies" is the understanding that the beauty of a rainbow

does not negate the ravages of the storm.

When a rainbow appears,

it doesn't mean the storm never happened or that the family

is not still dealing with its aftermath.

What it means is that something beautiful and full of light has appeared

in the midst of darkness and clouds.

Storm clouds may still hover,

but the rainbow provides a counterbalance of color, energy and hope.

Watch Our Love Grow

It's been a while since I've posted and I can assure you that this blog post was worth the wait. We've had a lot going on over the past few months and have some exciting changes underway. With that, we are beyond thrilled to announce...

That's right folks, you read that correctly! Kelly is going to be a BIG SIS!! Our family will welcome a new little bundle of JOY sometime towards the end of August. The best news is that we've completed all the appropriate genetic testing and confirmed that our newest addition does not have Niemann-Pick Disease! We are so unbelievably happy and feel incredibly blessed to welcome another baby into our family. Little Miss Kelly Joy (so appropriately named) has brought such an abundance of joy and laughter into our lives; reaffirming our belief in God's perfect timing and giving us a reason to smile every day. We are so excited to watch our love grow even more.

I'm just over 15 weeks pregnant and feeling great! You might be wondering...Pink or Blue? Well, we decided to wait a bit longer to find out. Since we completed extensive genetic testing, my doctors already know the baby's gender, but we wanted it to be a little bit more special than an anticlimactic phone call revealing the results. Truth be told, all I ever need to know is that our baby is healthy! I wanted to wait until the baby is born, but between the 'planner-side' of me and a hubby/daddy who needs to know, we have ultimately decided to find out at our 20-week ultrasound. Meanwhile, Kelly responds very excitedly with the word "Yeah," when we ask if she's going to be a big sister. In fact, she is already working on mastering two new words: "bro-thurrr" (brother) and "siss-terrr" (sister). For now, guess we'll all have to wait and see what gender Brooks Baby # 3 will be!

Thankful for Family and Flag Football!

Thanksgiving has always been my most favorite holiday -- not because the table is filled with mounds of mashed potatoes and gravy (my fave), but because the table is filled {insert sappy comment} by those we love most! It is truly a day to count our blessings and be thankful for all that we have, as well as all of the life experiences that have made us who we are. 

I feel it goes without saying that we will never be more thankful than we are for being Jacob's parents. Jacob taught us what is truly important in life ~ Love & Family! Jake was such an amazing little boy, who filled our hearts with love and brought joy into our lives that has forever bonded our families. There is no greater gift than what Jacob gave all of us.

In honor of Jacob, we kicked off (literally) the day with an early morning flag football game at the park near our house. Josh's brother, Glenn organized the fun-filled game and we had quite the crowd of people turn out to play, as well as cheer on the teams. We even had special shirts for the occasion - grey pirates for the Raiders and red miners for Niners. I could think of no better way to spend Thanksgiving day, than being surrounded by those you love engaged in a 'friendly' game of flag (with a tiny bit of tackle) football. Our morning was filled with coffee, breakfast snacks, a couple of land mines (dog poo), a few stitches, and lots of laughs. It was the perfect way to bring us all together and honor Jacob.

 

Team Jacob

The shirts

 

Prepping the field (a.k.a. picking up doggie doo)

Pre-game practice throws
 

Picking teams...I want you "tall guy", "fast guy", "kid", "old guy"

Some of the 'red team' - go Niners!

Gearing up...putting on flags

Chase sporting his game flags

Josh and Glenn (official Jacob flag football game coordinator)

Let the game begin!

Auntie Hope and Kelly Joy

I'm pretty sure there is some tackle football going on in this pic, but I'm no referee

 

 

Great-Grandma Sharon in her festive feathered head attire

 

 

 

 

 

Kelly sitting at Jakey's bench with Grandpa Dennis

 

 

The absolute best part of the day was when a little ladybug flew onto Kelly (on the top of her hat) ~ incredibly special!
We knew that Jacob was with us all.

Our hearts (and tummies) are filled because of our amazing and supportive family, as well as our closest friends who truly are an extension of the Brooks/Kelly/Cotruvo/Strand fam! Thanks to all of our family and friends for all of your unconditional love and support. We love you all so very much!

2014 conditioning begins now...see you all on the field next year!!