This weekend, family and precious friends took it upon themselves to usher refreshment into my life in ways I frankly didn’t think were possible. They poured out love and joy and blessing of all kinds on me, easing my pain, participating in it through their acknowledgment of it. Because of them, I was able to divert my attention from the heartbreak of Friday’s appointments, if just for a moment, and my heart is still, in many ways, sustained by their kindness. Strengthened by them, we are ready to share the news we received less than 72 hours ago, though it somehow feels both like the blow was just dealt yet a year has passed simultaneously.
Gabriel’s genetic results show two mutations in gene AARS and one mutation of the MAP1B gene. The doctors think the AARS mutations are the likely causes of what his body is experiencing. He’s, in a way, still in an unknown, “league of his own” scenario. They think he has distal hereditary motor neuropathy type II of the AARS gene, which is a cousin of Charcot-Marie-Tooth (CMT) disease. This is relatively newly discovered, and he’s an anomaly for the current definition, which states the age of onset is 6-54 years old. The condition could be progressive, or it could not. We don’t know. Even among multiple siblings in the same family, all of whom have CMT, in some it progresses and in others it doesn’t. We don’t know if this type will function like CMT or not, but they are considered “cousin” conditions.
In addition, we learned that both of the AARS mutations come from me, so I am at risk for later onset of the condition. I will need to undergo a nerve conduction study and EMG like they did for Gabe earlier this year. If I come back with abnormal findings, it will give us more evidence that this condition is what Gabe has. There is a chance that I could start to show symptoms someday…or not. We don’t know.
So, the next steps are the nerve tests for me, a genetic test for Owen to see if he has the mutations and continued serial casting for Gabe. He is crawling in his casts which is wonderful and lifts my soul above the fray on an hourly basis.
Before Friday, our framework did not include the possibility of Gabriel having a potentially progressive condition. All of our definitions have imploded (again), expanding, though we beg them to stay stagnant. The answers only bring about more questions, questions with answers we aren’t sure we want to hear, with no promises of when they will be revealed, much less how.
The sharing and bearing of burdens I experienced this weekend tasted like the kingdom, with one critical difference. Someday, though I may struggle to believe it, we will no longer need to share our burdens. We will only, beautifully, eternally share our joys in the Healer, in the One whose bearing of burdens and participation in our pain extracts the presence and sting of our suffering entirely. I’m desperate for that day.
We are so thankful for each of you who pray for us, who love us in word and deed. Please pray for Gabriel’s healing. Please pray for strength of heart, perseverance, belief for all of us, whether the Lord chooses to remove this thorn or not. Please pray for us to steward this story of our son and our family well, to exalt the Lord higher and greater as life drives us lower and deeper. We are confused by Him, our categories are too small for Him, we behold Him as in a mirror, darkly, and say, “to Whom shall we go if not with You, Lord? We believe. Help our unbelief.”
We cling to the hope of the day where the darkness will be as light, the night shining like the day. And until that day comes, we grab hands with each of you who have offered them so graciously, so strong in their grip as ours tremble. You are His body, the Church, reminding us of His goodness when we don’t know what that word means anymore. You are showing us what it means, far beyond any written definition, and we will never be able to thank you enough.