Status quo continued. Life seemed to be back on course with the wins sometimes more common than the defeats. Something remained, though, and I had no idea what it was.
What was it that I required? Who could know, but it seemed that I had both short- and long-term ideas. I needed to stay healthy, active and independent. Beyond that was a wild card. I had spent nearly 15 years figuring out who I was, all the while insulating myself from the community of people stricken by X-ALD. Was that denial? I do not expect it was. Truth be told, most of the people that I met did little for me. Hearing the same stories about how bad it will get, or learning just how useless a crippled carpenter feels did not sit well with me. So, I continued my battle alone. It was a one-man battle.
And I have failed here; I did not put in the work. I might have argued that my own survival was the priority. I do not know, seems like a weak excuse. Finally, though I was beginning to feel the slightest need to do something, but did not know where to take it. Still, an attitude change was afoot. The only thing that I knew, was, it would need to include a cure. Visions are pretty easy; execution is where it gets tricky.
There were complications. In 2010, I attended a Multiple Sclerosis (MS) meeting put on by the by Race to Erase MS foundation[1]. Looked like they had found the money.
Sadly, I did not get the proper ticket: the $1,000 per plate gala the night before. Tommy Hilfiger, Paris Hilton, Dr. Phil had somehow gotten invitations. American Airlines was the lead sponsor, and Heart played Barracuda as they auctioned off a Lamborghini. Capitalism was certainly alive and well, even in the non-profit space. Amazing. The lineup for the scientific session that I attended was well-stocked with high-caliber researchers. Yes, it appeared that they had the wind at their back.
Nonetheless, where was their cure? Now, I have had those in the know tell me that MS is a complex, multi-faceted and tricky beast- I suppose that I have no business comparing it to X-ALD. Maybe so, but it was still disheartening as I looked at all that had been done with MS and still no viable solution. Comparing that to what we had at the time for X-ALD research made me feel pretty neglected.
I was not broken, I was not ready to give up, but I was a bit battered and not feeling overly optimistic. This was bad. I had always considered myself optimistic, but somehow, my fight had softened.
I focused a bit, looking for that kernel of hope. Sure enough, there was a little something going on. For years, I had heard Dr. Moser speak about another of his dreams: newborn screening. He envisioned testing every child at birth for X-ALD. This is the one where they poke the child’s heel and collect blood on blotter paper. There are 4 little circles that are filled with blood, if I recall. The idea would be to add a 5th circle, incorporating the X-ALD test. I did not give it much thought. He kept at it. At some point, I heard that the test was ready for validation.
Postscript: I am told that inclusion of the screening in the test panel would be adopted state-by-state: New York was the first to include it in their panel[2]. This was something.
And that was more than 10 years ago. I am not clear on how widespread newborn testing is, but from what I understand, it is pretty common, discovering new cases at a rapid rate. It is this early diagnosis that is giving new patients a fighting chance. Finally, some progress. Bravo.
So far as myself, as a man a bit down the road, I was late to this party. Nonetheless, through my recent discovery of ALD Connect, I have found a community of people sharing what used to be my very own private disease. It somehow brings me comfort to hear their stories, to know that what I thought was my solitary struggle is shared by many. I am hopeful that these interactions bring comfort to the younger, freshly diagnosed patients and their caregivers.
Things are evolving. AMN is far from being eradicated, but it is in a better place.
Walking the Rails 
Reblogged this on Survivors Blog Here Mental Health Collaborative and commented:
Been gone a while, thinking and working. I hope that you all are well. Here is a continuation of the story that I began to share with you months ago.
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