What we found out. Trying to condense a very difficult to understand paper, Lila's autophagy (or autophagocytosis) process is compromised. Autophagy, if properly works, ensures synthesis, degradation and recycling of cellular components. Meaning that Lila's cells can not get rid of dysfunctional cellular components. Since toxic debris can not be taken out of her cells her body doesn't function the way it should. Also, their hypothesis is that, since this process wasn't working since her embryonic stage her brain, eyes, muscles and other organs did not form correctly causing severe and irreparable damage. The gene responsible for this is EPG5 located on the 18th chromosome.
Their abstract is as follows:
Vici syndrome is a recessively inherited multisystem disorder characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. To investigate the molecular basis of Vici syndrome, we carried out exome and Sanger sequence analysis in a cohort of 8 affected individuals. We identified recessive mutations in EPG5 (previously KIAA1632), indicating a causative role in Vici syndrome. EPG5 is the human homolog of the metazoan- specific autophagy gene epg-5, encoding a key autophagy regulator (ectopic P-granules autophagy protein 5) implicated in the formation of autolysosomes. Further studies showed a severe block in autophagosomal clearance in muscle and fibroblasts from individuals with mutant EPG5, resulting in the accumulation of autophagic cargo in autophagosomes. These findings position Vici syndrome as a paradigm of human multisystem disorders associated with defective autophagy and suggest a fundamental role of the autophagy pathway in the immune system and the anatomical and functional formation of organs such as the brain and heart.
Another interesting part of the paper was finding out who Lila's peers are. As of now their are 18 accounted cases of Vici syndrome. European (n = 11), Arab (n = 3), Turkish (n = 2), Japanese (n = 1) and British- Asian origin (n = 1) The oldest living is a little girl who is 10! Although my excitement that there was a living ten year old was a bit dashed when I read that she was never genetically confirmed. She may just have some of the same symptoms of Vici and not carry the mutation. But hey, we will take the hope that Lila may live past the age of ten. As of now there are nine living children in the world with Vici. I wish that I could somehow find them and hug all of them!
This is all very interesting and while it is extremely nice to better understand why my daughter is the way she is it is also heartbreaking. We cherish every moment with Lila. But it is time that is literally killing her. As her cells keep filling up with toxic debris there is no way that her little body will be able to handle it. Soon her organs will not be able to continue supporting her body and they will start to shut down.
But I am trying to focus on the fact that I know more about my angel and can understand more of what is going on in her body. I am so grateful for dedicated physicians who did all they could to get answers for their patients and their families. Dr. Jungbluth, who I have had personal contact with and has always been more than gracious, had a vici child under his care who he wanted to get answers for the family. Even after the child's death he researched and studied hard until the gene responsible for vici was found. This paper was dedicated to the memory of his first Vici patient. I am so grateful that he found the gene. Grateful that we have an answer, grateful to finally put unrealistic goal to bed, grateful to know what Lilas future holds and grateful to finally put the guilt down that maybe I had somehow caused my daughter to be this way.