Wednesday, February 27, 2013

We're published!

The doctors over in the UK finally published the paper on Vici syndrome. It was published in Animal Genetics an online medical journal. We are so grateful to Dr. Heinz Jungbluth, Thomas Cullup and all of the other participating doctors who spent so much time and effort on finding out more about this disease.
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. 


Barb said...

Your last words just broke my heart. I'm so glad you are able to let that guilt go now. This was such an interesting update, thank you for sharing it.

Jett Powered Foundation said...

Wow...that is so amazing that this information is finally published. You guys have worked so hard toward this and now this information will be available for years to come. You will help many more families in the future who are looking for answers! Way to go!!

As you know, Lila will have a perfectly functioning body someday! She (and Jett) were sent here to teach us some really important things and also PUSH us to be more than we ever thought we could be. If you think about it, you have already done so much already. You have started a rare disease foundation and now have helped publish some really important information about Vici Syndrome. I hope you never feel should feel proud of what you have accomplished so far!!

w and w said...

Yay, yay yay!!!!! Sooooooo excited to read this!!!! How comforting this all is to you I can only imagine. I can't tell you how big I'm smiling right now! Kris, love you all to pieces! We emailed the lawyer a couple days ago and hope to get thing s moving along. So many good things coming your way!

Chez said...

Thank you so much for the summary. Our five year old is currently being tested for Vici Syndrome (among a few other things).

With best wishes.

- Cheryl