Friday, September 16, 2011

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.

17 comments:

nikki said...

You have all been on my mind constantly since you told me the news. I know how devastating it feels to hear similar words but at the same time, also feel grateful to finally put a name with the disease.

I agree with Quinn's comment. We should always remember how lucky we are to have these amazing kids. They teach us how to love in a way that is unique to those experience living with these choice children.

I am also happy to hear that you have been communicating with another mom that knows about Vicci Syndrome. That is invaluable. I didn't know a think about it until I started reading up on it but I hope you always know that I am here for you as well and I would love to help in any way that I can. Let's get together when you get back and settled.

nikki said...

Don't mind all my typos!!!

Barb @ getupandplay said...

I'm so sorry. I'm glad that you are feeling some peace with this new information. Lila is a blessing.

Kelli said...

We love you three SO much! And we feel so blessed to have Lila in our lives too!!

Brandon said...

Kristi,

You all are so incredible and have been so amazing through all of the challenges your little family has had to face. I can't imagine what you must be feeling, but please know that our prayers have been and continue always to be with you.

Love, Brandon and Lindsey

Kriss said...

My name is Kriss Ricord. I am Jory and Kathy's neighbor. Kathy has told me all about your amazing Lila since she was born. I hope you don't mind, but I have read your blog to follow your incredible journey. I can't get your family out of my mind. I have prayed for your family and hope you know that you are an absolute inspiration to me. I hope you continue to find peace and cherish every second with your beautiful daughter. She truly is an angel!

bigsmallittle.blogspot.com said...

Kristi, you are an amazing woman. Jack and I are in constant awe of your strength. You have always been in our prayers. WE love your little girl. You and Quinn are an incredible, strong, and spiritual couple. We look up to your always constant example. Let me know if there is anything I can do. We are not too far away and I would love to get together.

Robbie and Margot said...

Kristi- You really did win the lottery with Lila, and she really won the lottery with you as parents. What an amazing girl, she is an inspiration to me. To be honest, you and Quinn are an inspiration to me. Your strength and love for each other and for Lila is a true example of what we all need to be trying to achieve with our own families. If you ever need anything, please let me know. -Margot

Anya said...

she is truly an angel is so lucky to have you two as parents. You are so inspirational and im lucky to have as a friend. Love you

ann said...

Kristi,

I just want you to know what an inspiration you, quinn and sweet lila are to us. We think of you often and are
in our prayers constantly. We love you all!

Love, Ann & Mike Ericksen

amanda said...

Thank you so much for sharing. You are amazing. And so is Lila. I'm so glad I got to see you a few weeks ago. I've been wanting to know how your trip went to the Mayo Clinic. Please know that we will continue to pray for you and your family. I can see what a blessing Lila is for both of you, and what a blessing you both are for Lila. You have a beautiful family.

Lindsey and Tommy said...

Love you all! I'm home now... I'll call ya this week to get together!

Addi said...

Hi Kristi, it was so nice to get a comment from you on my blog. I was just telling Blake that we need to try and see you and your family while we're visiting over Thanksgiving. We would love to see you and meet sweet Lila--what a beautiful girl! You are a very, very good mom and I love reading your blog because you are so genuine and full of love. We are praying for you, Quinn, and Lila.

blythe said...

im thinking of you kristi! lila is such a sweetheart. i wish i could meet and hold her. we are praying for you guys.

love the kimball family pics. lila looks beautiful in that grey dress!

Parvin said...

Hi Kristi,
I just finished watching Lila's clip on Vimeo, and would like to tell you how much I've cried...You truly have an angel! Lila is a beautiful angel and a gift of god!
My friend has a son with ACC(Corpus Callosum) and I was searching for some info that I came up with your blog...
I can't say how much love I feel about Lila, your beautiful angel.
My friend has a blog, but not in English.
Please let me know If you can write something for her.
Thanks

MallaviaMom said...

Our son was diagnosed with VICI today after being hospitalized for seizure and infant spasms. This is the 3rd time he has been hospitalized and he is 10 months old, we are in Phx az

MallaviaMom said...

Our 10 month old was diagnosed with VICI this morning while being hospitalized for seizures, this is the third time he has been hospitalized since birth since his cataract repairs were done out patient. We are in phoenix az