Lila's Diagnosis

Wow this is a long time coming. Where to begin? A few months ago while doing my own research, AKA Googling, I come across an extremely rare genetic syndrome called Vici (pronounced veechee) As I was looking at all the symptoms I became very concerned that Lila might have it. I called our neurologist up at Primary's to ask if we might have already tested for it so I could put my mind at ease. He called back and told me that he had actually never even heard of it and was hoping that I could bring Lila in for an examination. He told me that while Vici is genetic, they actually haven't discovered the gene for it yet so a test is not possible. They know it's genetic because families who have these kids often have other kids with the same syndrome. He examined her and told me that one of the signs is albinism of the retina but that Lila clearly didn't look she had it because of past tests. He said there is a chance though that she could have it, while not physically manifesting it and that you can do a VEP (a test we have done multiple times) to look for it. I was so confused, I thought that if she had it they would have found it already so I kind of pushed it out of my mind. We went on our trips with the families but this question of Vici kept returning to my mind. When we returned home we scheduled the VEP. I think we all thought it was a long shot. Turns out you have to do the VEP a certain way and look for a particular patterns in the brainwaves to see albinism and Lila did indeed have it. Dr. Filloux took this new information and consulted with all the specialists at Primary's and we did some more blood work. We met with him a few weeks ago where he told us that as far as Primary Children's hospital was concerned Lila did in fact have Vici Syndrome.
This has been quite the blow. Vici syndrome is devastating. Children with this syndrome tend to display sever developmental issues much like where Lila is right now, they are constantly sick and most heart wrenching of all, most die before their third birthday. The oldest living Vici child was eight and a half. As you can imagine there have been many many tear filled nights in our home lately. Not only has Lila been delivered a death sentence but since it is genetic and they don't know where the gene is, it is pretty much a death sentence for our future children as well.
We debated whether or not to go to the Mayo clinic, Dr. Filloux is pretty convinced that this is Lila's diagnosis and up until this point he has been extremely cautious. In the end we decided to go for a second opinion and had hopes that maybe they might find reasons why she might not have it. Unfortunately the opposite happened. When re-looking at Lila's MRI they thought that they saw even more signs of Vici, her cerebellum was small, her ventricles were very large and the ridges of her brain were not the same shape as each other. Some grew larger than others, another sign of Vici. They also think that Lila is having far more seizures than we think and just not manifesting them physically. Since they can't give a positive yes or no answer (since there is no test) they told us that Vici is the most likely reason for Lila's condition.
There is some hope on the horizon. After Primary's told us of their decision I searched for more families that might have kids with Vici. Turns out it is even more rare than we realized. With no more than Fifty documented cases. In the whole world, 50! Somehow I found a wonderful mother in Colorado who lost her son to Vici a year ago. (sadly he looked like Lila's twin) we have been corresponding and she got us in touch with some researchers in the U.K who are studying Vici. Our doctor has talked to them several times and it turns our the may be on the cusp of discovering the gene and they want Lila's DNA. They will test her and want her to be a part of their study. Good news but sad because they are saying that she sounds like their Vici kids. Hopefully we can get a clear cut answer if she has it and then also know the gene for genetic selection with future children.
Lila is so special. We have always known this. During these past 13 months I have been panicking over every suggestion as to why Lila is the way she is. When we were told that Lila has Vici I can't explain the peace that came over me. I literally felt as if arms were wrapped around me holding my heart together not letting it shatter. I am more convinced now more than ever that Lila is the most amazing angel, a literal angel is abiding in my home. I believe that Heavenly Father has given her to me for a small moment to teach me unconditional love, humility, gratitude, faith, patience, what is important, and many many more attributes. What a gift she is. She has brought me to my knees more than any other experience in my life and she has brought me more joy than I thought possible. I think Quinn described it well when he said she is like winning the lottery. We had a 50 into over 6 billion chance of having her, how lucky are we?
With this news we are definitely not giving up hope, we will continue to do therapy, and hope that she will break all expectations for children with Vici. We will love her everyday with our whole hearts for as long as we are lucky enough to have her with us on this Earth.
We want to thank everyone who has prayed for us, thought about us and have supported us through this trial. We love you all.