THE JOURNEY TO RARE DISEASE
It feels like years and mere moments ago, all at the same time, that we learned our sweet Willa has a very rare genetic disease called Adenolysuccinate Lyase (ADSL). When we began trying to make sense of new challenges, like a shortened life expectancy, psychomotor retardation, chronic seizures, and other critical life hurdles. When we learned that Willa is one of approximately only 30 known living cases of ADSL in the world today (6 in the U.S), and one of only 90 cases in total in the disease’s brief history. When we had to come to grips with there being very little we could do to combat it. No proven cures, treatments, or therapies. And yet here we are.
We have been writing about this journey quite extensively over the past few months. About the lessons you don’t want to learn from something like this. Things like...
How we often wait for tragedy to hit us like a Mack truck before we begin to re-evaluate everything. Like how wake up calls hurt. Tremendously. Or that expectations are man-made and meant to be broken. And the ways in which we allocate our resources, particularly our time, are disproportionately inverted from our stated priorities. Embarrassingly so. How our busyness is a form of laziness. How faith and hope are easy words to say but much harder to feel. And perhaps most importantly, that joy comes from unexpected places, even in the darkness.
You can follow along @ Lessons Learned from a Brain-Injured Child . For a deeper dive into Willa’s story, I would suggest checking out Re-Evaluate Everything , Talking about an Early Exit , and Broken Expectations. You can also find an introduction of sorts to this campaign at These Genes Fit Just Right.
Stated briefly, our journey began 14 months ago with a five-month old who we thought might be blind. Over the months that followed, the countless doctors’ visits, the gauntlet of speacialists, our anxiety grew to unpalatable levels with each missed developmental milestone. She couldn’t rollover. Couldn’t sit up on her own. Her body tone was extremely stiff. She couldn’t reach for her toys, or hold her food or her bottle, much less bring them to her mouth. She never crawled, stood, or walked. She was overly sensitive and stimulated to sound and began sleeping less and less.
So when we received a diagnosis, for a brief moment in time, there was relief. It vanished almost instantly. Replaced by new unknowns. New fears. A new kind of pain.
Unfortunately ADSL has created needs for our family that we did not know existed before. Things that were not a part of our plan. To that end, there are knowns and there are unknowns before us. Some needs are financial in nature and others less so. Asking for help is hard. The natural reflex is to say, “this is my burden, not yours.” To coil up and forge a path on your own with whatever resources you may have. To be honest, pride most likely drives such a response. Many of our close friends have advised against this approach, however. Through our blog and now this These Genes Fit Just Right campaign, we are attempting to set our pride aside and ask for your support. Support through the tangible and intangible alike.
The immediate tangible needs:
Daily therapy for the rest of Willa’s life – We are blessed to have an outstanding organization in our community called Hope Landing that provides Willa’s therapy. Within a few short weeks of Willa beginning three discrete therapy sessions per day, several days per week, however, we quickly recognized that we’d never be capable of paying for the therapy she is receiving. Hardly a faction of it. So a significant portion of all funds raised through this campaign will go to Hope Landing in Willa’s name.
Extensive equipment needs to try to learn to sit, stand, or walk – Thankfully Arkansas has some unique programs in place to provide coverage for much of the equipment Willa will need to learn basic life functions. But these programs don’t cover everything.
Regular visits to the geneticist, neurologist, ophthalmologist, and pediatric physiatrist, all of which are an overnight stay away – Given where we live in south Arkansas, there are numerous road trips in our future to Little Rock, Houston, and other parts of the country as Willa’s needs evolve.
It starts to feel like death by 1,000 financial cuts, I suppose.
The intangible needs are seemingly simple but no less important:
Prayers - We are a family of believers. We believe in the power of prayer. And we ask for yours with bold sincerity. For Willa to live a full life. For her bother to learn something valuable about the fragility of life through this. For strength for her parents to be everything she needs and to not lose sight of the ways in which God is working through her life. And lastly, for joy through the journey.
Love - We want to share Willa with you. We know that she is loved by so many. If nothing else, we have experienced the power and energy filled in such expressions of grace and love over the past few months. We are full of gratitude. Our simple hope is that time does nothing to erode that.
There are a number of unknowns and future opportunities as well that will certainly require support over time:
Participation in ADSL Research – Much of the advanced research on ADSL is being conducted in Europe. There is very little. And much of it has fizzled in recent years. However, we recently learned of a Doctor/Professor in Italy that has some things going. We plan to explore participation in these studies, which of course may require additional travel. Participation or not though, we expect to be an active financial supporter of the work. We ask for your help in doing so.
The Institutes for the Achievement of Human Potential – We also learned recently of an organization in Philadelphia that works wonders for children like Willa. Their programs are intense and include extensive training and education for parents dealing with brain-injured children. It’s unclear whether something like this would be feasible for us, but we are opening ourselves to the possibility.
Additional Care – This is perhaps the greatest unknown. As Willa continues to grow into her precious self, whatever stage of development that becomes, the need for additional care inside and outside of the home will become increasingly probable.
A significant portion of the funds raised from this campaign will therefore be set aside to support ADSL globally and to prepare for these unknowns.
This part of the process is unexpectedly difficult. The aspirational side of me—that fiber within each of us that lies somewhere suppressed in the depths of our being, that still believes in the power of humanity
—wishes to raise $1 Million for ADSL research, setting aside a mere fragment of that for some of Willa’s more immediate needs. The realist in me, however, suggests a more reasonable (read: reachable) trajectory of $30,000. Whatever the outcome, whether my aspirationalism or realism wins the day, Sarah and I will be eternally grateful.
With all the love we can muster, we thank you in advance. For everything. Now and to come.
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