Holding My Breath
This post has nothing to do with waiting on a hurricane. The East Coast is certainly holding its breath right now and I pray that it won't come our way. But for me, since the beginning of August, I have been holding my emotional breath, waiting to hear the results of my son's genetic testing. I was told at that visit that he probably did not have mitochondrial disease because he was doing so well compared to what he should be doing; simply put, his previous degenerative diagnosis was wrong. And genetic testing has progressed exponentially in the past 10 years, so an update was due.
After three months, no answer. After four months, I decided to call. No news is good news is not the case when waiting on results like these. As it turns out the report had just come across the doctor's desk which I had mistakenly called directly and so got to hear the results firsthand.
My 21 year old son with development delay, significant speech deficit, digital arthrogryposis (contractures of hands and feet), seizures, and hypotonia, that son, his test showed something--mind you, genetic testing at birth suggested distal arthrogryposis, genetic testing at age 10 showed a non-specified neuromuscular disorder from a mitochondrial malfunction in his 2nd and 3rd protein along with an MRI showing cerebellar atrophy--but this test, this test shows something that will provide "good information" the doctor explained tentatively. Another visit is needed to confirm, but his NACLN gene has a mutation and he appears to have CLIFAHDD syndrome. After 21 years, we have a name for the non-specified neuromuscular disease, for PART of what makes Dylan, D. We have a name for that difficult part, the part that has caused much grief over the years at its obstinacy, its control, its crippling.
Not the part that says thank you after you give him a bath.
Not the part that hugs me when he is so happy.
Not the part that says, "'ight" when he wants me to turn off the light so we can both go back to sleep.
Not the part that smiles with his eyes whenever I try to be funny.
Not the part that claps when anyone sings and the song speaks to him.
Not the part that yells, "Yay!" when he hears talk of God's love, heaven, or Jesus dying on the cross in his place.
Not the part that reaches out his hand to connect as he meets someone new or says hi to someone most would pass over.
Not the part that calls for his brothers to come to family worship.
Not the part that asks hopefully, "Durch?" on Wednesday and Sunday mornings when he first wakes up.
Not the part that yells out "Uh-OH!" whenever someone drops something, no matter where we are.
Not the part that shouted out "Ih-IH-W'LL" in response to the MercyMe song I was blasting in the car earlier this week:
Or maybe it is a name for that part of him. Maybe those things are poignant because he can't speak because he has the syndrome. No, no, I think they are poignant because they happen in spite of it. D is D because of his spirit. He loves to laugh. He loves to be around people. He loves to be in the sanctuary. He loves music of all kinds, especially live music. D loves well.
No, this name, this syndrome, merely names the part that has made him unlike most of my friends' children, that has made our experiences as a family unlike the experience of the so-called typical family unit, but has made him belong to a small, unique group. CLIFAHDD, caused by a rare mutation on the NACLN gene, was only discovered in 2015. And the Facebook group that I have joined has enabled me to read of experiences that mirror our own. Similarities pop up in almost every post as does gratitude that we are not alone mingled with sorrow that someone else is encountering similar difficulties. D is older than most in the group, so we have "been there, done that" in most cases. It makes me grateful that he has had the interventions he has had along his journey. Without even knowing what his diagnosis was, we were led to the most helpful treatments, therapies, and wonderful therapists by God's gracious providence. He has been taking a vitamin cocktail for 10 years that is just what those who know what they have are taking. And either due to his various therapies and treatments or the degree of aberration in his gene, his case appears to be mild. We will know more after our visit in mid-October, but until then, here's Dylan, D, Big D, Jimmy D, Dill Pickle, and the D-man who happens to have CLIFAHDD syndrome. (And a link to MercyMe's "Even If" if you want to sing-along.)
After three months, no answer. After four months, I decided to call. No news is good news is not the case when waiting on results like these. As it turns out the report had just come across the doctor's desk which I had mistakenly called directly and so got to hear the results firsthand.
My 21 year old son with development delay, significant speech deficit, digital arthrogryposis (contractures of hands and feet), seizures, and hypotonia, that son, his test showed something--mind you, genetic testing at birth suggested distal arthrogryposis, genetic testing at age 10 showed a non-specified neuromuscular disorder from a mitochondrial malfunction in his 2nd and 3rd protein along with an MRI showing cerebellar atrophy--but this test, this test shows something that will provide "good information" the doctor explained tentatively. Another visit is needed to confirm, but his NACLN gene has a mutation and he appears to have CLIFAHDD syndrome. After 21 years, we have a name for the non-specified neuromuscular disease, for PART of what makes Dylan, D. We have a name for that difficult part, the part that has caused much grief over the years at its obstinacy, its control, its crippling.
Not the part that says thank you after you give him a bath.
Not the part that hugs me when he is so happy.
Not the part that says, "'ight" when he wants me to turn off the light so we can both go back to sleep.
Not the part that smiles with his eyes whenever I try to be funny.
Not the part that claps when anyone sings and the song speaks to him.
Not the part that yells, "Yay!" when he hears talk of God's love, heaven, or Jesus dying on the cross in his place.
Not the part that reaches out his hand to connect as he meets someone new or says hi to someone most would pass over.
Not the part that calls for his brothers to come to family worship.
Not the part that asks hopefully, "Durch?" on Wednesday and Sunday mornings when he first wakes up.
Not the part that yells out "Uh-OH!" whenever someone drops something, no matter where we are.
Not the part that shouted out "Ih-IH-W'LL" in response to the MercyMe song I was blasting in the car earlier this week:
"But God, when You choose
To leave mountains unmovable
Oh give me the strength to be able to sing
It is well with my soul"
And then looked at me with joy in his eyes because he understood AND could say emphatically, "It is well."To leave mountains unmovable
Oh give me the strength to be able to sing
It is well with my soul"
Or maybe it is a name for that part of him. Maybe those things are poignant because he can't speak because he has the syndrome. No, no, I think they are poignant because they happen in spite of it. D is D because of his spirit. He loves to laugh. He loves to be around people. He loves to be in the sanctuary. He loves music of all kinds, especially live music. D loves well.
No, this name, this syndrome, merely names the part that has made him unlike most of my friends' children, that has made our experiences as a family unlike the experience of the so-called typical family unit, but has made him belong to a small, unique group. CLIFAHDD, caused by a rare mutation on the NACLN gene, was only discovered in 2015. And the Facebook group that I have joined has enabled me to read of experiences that mirror our own. Similarities pop up in almost every post as does gratitude that we are not alone mingled with sorrow that someone else is encountering similar difficulties. D is older than most in the group, so we have "been there, done that" in most cases. It makes me grateful that he has had the interventions he has had along his journey. Without even knowing what his diagnosis was, we were led to the most helpful treatments, therapies, and wonderful therapists by God's gracious providence. He has been taking a vitamin cocktail for 10 years that is just what those who know what they have are taking. And either due to his various therapies and treatments or the degree of aberration in his gene, his case appears to be mild. We will know more after our visit in mid-October, but until then, here's Dylan, D, Big D, Jimmy D, Dill Pickle, and the D-man who happens to have CLIFAHDD syndrome. (And a link to MercyMe's "Even If" if you want to sing-along.)
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