Senators Orrin Hatch (R-UT) and Amy Klobuchar (D-MN) introduce the Orphan Product Extensions Now Accelerating Cures & Treatments, or the OPEN ACT. Supported by more than 150 rare disease patient advocacy organizations, this bipartisan legislation promises to rapidly bring hundreds of safe, effective, and affordable medicines to rare disease patients by incentivizing drug makers to “repurpose” approved drugs for the treatment of life-threatening rare diseases and pediatric cancers. Learn more.
A New Set of Eyes
It’s taken me a while to hunker down and write a new post. Life as we know it is changing, fast. Each time we adjust, change happens and we have to adjust again. We are living in a stark reality that there is a timeline on my son’s life… it isn’t assumed, it is a fact. And the fact is that it’s too short. Or at least that is how I’ve always thought, my brain never thinking there was another way to operate. We are supposed to live long, die old, getting to experience great things! Titus should be able play in his first soccer game, graduate, get married and be a dad! That is really living! Right?
This disease has stolen a lot from us in a short time. I find myself in tears over the “lasts” we’ve experienced that I didn’t even know were “lasts”. The last time I would hear my son proudly state that his name is “TITUS!”, the last time I would see him run to the park up ahead of me, the last time I would know for a fact that he saw me smile at him, the last time I would hear him say “love you”. As this change has happened, I’ve had to figure out how to relate to my son in a new way. His vision is almost gone. How do I help him still see? What does that even mean? He is going to go the rest of his days blind, so does that mean he has to miss out on the beauty this life offers?
And then I read this out of One Thousand Gifts, by Ann Voskamp. “The only place we need to see before we die is this place of seeing God, here and now.”
My son doesn’t have to score a goal to fully live. He doesn’t have to live to be 92 with grandkids and great grandkids to fully live. My son doesn’t have to be able to see everything around him to fully live. My son is fully living here and now and I know this because I see his spirit. I see his joy. Joy does not have a physical prerequisite to be able to experience it. We do not have to physically see God to know he’s here and working… We see him through our spirit.
This aha moment had given me new eyes too. No longer do I walk blindly through the day doing my momma thing only to have my eyes opened by some majestic landscape or some huge miraculous happening. My eyes are always open. And so are Titus’s. We breathe in the daily beauty, the smiles, cuddles, hugs, encouraging words from others, the times we play fetch with Sunny, the times when we go outside on a walk, when we simply lay still, and through all of that and more, I find reasons to be thankful. And out of thankfulness for all God has done and continues to do, I find joy.
We aren’t operating in bucket list mode anymore. I don’t think to myself, “someday when we can do this again, we’ll really be living”. That is a dark path for me to walk right now. No, instead I choose to see life through the eyes of joy in the here and now. Through the eyes of thankfulness in the here and now. We don’t ever completely grasp what God has done and is doing until we learn how to live in this way. How to see through new eyes.
So today, I saw my son’s spirit as he pursed his lips and spit, egging me on to do a giant raspberry on his tummy. And I will see his spirit in the way he calms as I hold him. And in the way he pounds his arms up and down to feel his world and how he still laughs at his brother because he just knows what Ely is doing. And when my son can no longer show any of this through his physical body, I will still pick him up and dance with him, I will still sing to him, pray with him, hold him. I know that he will still see God even through the limitations set out for him. Today, I choose thankfulness and joy, here and now and for that I see through new eyes.
Read more on Bekah’s blog, Can’t Steal my Joy.
Learn more about Batten disease.
Beyond Batten Disease Foundation has become a participating organization of The Research Acceleration and Innovation Network (TRAIN), a program of FasterCures, bringing the total number of venture philanthropies in TRAIN to 80.
FasterCures established TRAIN in 2005 to connect disruptive innovators in the disease research space with the vital resources, tools and relationships to catalyze development of new therapies and cures. Through the network, innovation in one disease area is translated to another in order to achieve treatment breakthroughs for all.
Read press release.
In April’s issue of NonProfit Pro, Annette Bakker, President and Chief Scientific Officer of the Children’s Tumor Foundation, shares how they are taking a non-traditional approach to expedite finding treatments and a cure. At Beyond Batten Disease Foundation, we share many of these same beliefs and this is why we can envision wholeheartedly a world beyond Batten.
Uprooting the Foundation: Innovation and Collaboration are the Only Way to Success
A lot of phrases—some positive, some negative—are being bandied about these days as those of us who work in the nonprofit medical research sector seek to actualize our missions. Well-meaning commentators needlessly snipe back and forth while espousing their analyses of the pros and cons of either the traditional nonprofit model or those more aligned with a business-oriented approach.
Often, the heart of the matter is lost during this war of words. Medical research foundations, especially those specializing in rare disease research, are focused on ensuring that safe and effective treatments and cures reach those living with the disease. These patients and their families seek answers to their problems now—not 20 years from now, but today.
The steps a foundation takes to achieve its goals are likely to be as individualized as the diseases and disorders each confronts. Rare diseases and disorders, for example, are at a disadvantage when it comes to receiving high levels of federal funding or strong interest from the pharmaceutical industry. With a perception of less public demand, it is all too easy for research into rare diseases to become a low priority. A low priority to everyone, that is, except those who are affected.
At Children’s Tumor Foundation, we work to find cures for the approximately one in 3,000 people living with neurofibromatosis (NF), a title that encompasses three distinct genetic disorders (NF1, NF2 and schwannomatosis). NF can cause tumors to grow along various types of nerves and, in addition, can affect the development of non-nervous tissues such as bones and skin. It can cause tumors to grow on or in the body, and it manifests itself differently in every single patient—from blindness in one, to deafness in another, to intense pain or even possibly cancer.
We have realized that the traditional funding model—one that rather passively hands out grants to promising scientists—simply was not resulting in expedient effective treatments. Too many institutional barriers were in place, too many limitations existed, and we simply could not sit around hoping someone else would tear those barriers down. We turned our funding model inside-out in order to build new mechanisms, create strategic partnerships, and foster a spirit of collaboration between the many different stakeholders inside and even outside the NF landscape: patients, researchers, clinicians, pharmaceutical companies and the biotechnology sector. And while we continue to provide grants to promising scientists for interesting research, we have rebuilt our foundation to realize optimal results. All of these choices were made with one goal in mind: to not merely activate the drug development process, but to set in motion a process that promises to get treatments (and one day a cure) into the hands of our patients.
What does this look like? It looks like tearing down barriers for all of our stakeholders in order to make the search for treatments faster, easier and more effective. We are inviting people from all sectors to collaborate, to share resources and to work together rather than separately find solutions. We are doing whatever it takes to facilitate cross-institutional data sharing. This means providing open access to animal and cellular models, and creating a tissue biobank with open access for all scientists who agree to share their research with others. (This open-source model, while it may sound just like common sense, is quite revolutionary in our world of litigious and overprotective entities.) It involves building and growing a patient registry, an anonymized patient-entered database that can be used to match willing patients to clinical trials. We now offer full drug research and development services, compound scouting services, and even the support of a patent attorney for those who need it. We simply cannot hear excuses anymore.
We have also redefined the very landscape of NF research by enhancing collaboration in a deeply meaningful way, by building teams of multidisciplinary scientists from world-class labs into consortia that we call synodos. These multiyear, multimillion-dollar collaborations are redefining the way research is done. In fact, we chose the word synodos because it is derived from the ancient Greek, and it means “to be on the same path together.” And this is what the NF synodos team is about—not just about competition, but about attracting courageous researchers across disease disciplines who are willing to share their unpublished data and information with others, in order to accelerate the drug discovery process.
In doing this, we envision a future where the roadblocks to drug discovery are removed. First and foremost, a world where patients are properly diagnosed and receive good treatment options. A world where industry is open to clinical trials for even smaller disease areas, but people have access to the tools they need to make their work efficient. And a world where researchers don’t feel restrained by contracts and publishing deadlines, and are willing to share their discoveries with others, early and often.
Let’s face it: Effective medical research nonprofits must continuously strive for innovation. We must constantly review methodologies and find areas for improvement—just like any nonprofit. Above all, in our specific field, we must find ways to put treatments into the hands of those who need them. Commentators can call it what they want; we call it effective drug development success.
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