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, August 10, 2014

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.