It has been a while since I posted but wanted to share the process with our sons avm treatment.
Our son also has an inoperable and extensive avm in his back which also affects the spinal cord. 3years back, we had a while exome sequencing done of a biopsy from the area. It showed a mutation in mitogen activated protein kinase kinase 1 (MAP2K1), the gene that encodes MAP-extracellular signal-regulated kinase 1 (MEK1). He is now on a MEK inhibitor drug called mekinist, just 1mg a day, and the results are incredible. The reduction of blood flow through the avm of ~70%. In addition, part of his avm is in the spinal cord and doctors were very concerned about operating on it. The amazing results from our latest angiogram shows that, of the 2 feeder vessels to the avm, one of them now has no flow and the other is only a trickle. Really encouraging and might now make operating on the spinal avm viable.
He’s had no significant negative effects from the medication - only some fungal infections of his feet which we could treat and are no longer there.
I’d encourage all of you to see if you can have exome sequencing done on your avm - via blood based or ideally a biopsy of the affected area - our sons mutation only showed in the biopsy as the doctors suspect the avm is not genetic and formed while in the womb.
Hope it helps some people out there.