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.

The Mayo Clinic

The Clinic was pretty beautiful.
Downtown Rochester. Literally this picture pretty much is downtown Rochester. It's kind of a weird little town, tiny except for like three blocks. (The Mayo building is right in the middle)
Delta lost Bob (our beloved stroller) they sent it to Denver then to Salt Lake before making it back to Rochester. In the meantime they found us a wheelchair shop in Rochester which had to tide us over till we got Bob back. It was the tiniest wheelchair I had ever seen. It was pretty uncomfy for her and it generated a lot of stares, actually it was kinda depressing seeing her in it. We were so happy to see Bob once they found him!
I adore blown glass! This is in the Mayo clinic's lobby.
lots and lots of cuddling!
EEG
First Airplane ride!
Now this is kinda a weird picture to add to our trip but Quinn was pretty excited about his Peanut Butter, Bacon Burger. Disgusting. He loved it.

We went to the Mayo Clinic in Rochester Minnesota this week. We were desperate for a second opinion. We saw the pediatric neurologist, the geneticist and a muscle specialist. We took blood, froze DNA, did an EMG and an EEG.
As always Lila was a little trooper. She took all the poking and prodding in stride. Even giving the doctors a few smiles, something she doesn't always do for strangers.
We were so sad we had to do an EMG. It's a muscle test where they stick tiny needles into the muscles then give them little shocks to see how the information is transferred between the nerves. Luckily she was sedated. When she was coming out of sedation her heart rate was really high. The nurse told me sometimes all they need is mommy and put Lila in my arms. Immediately her little heart rate started to slow and then stabilized. This just touched me so much because sometimes I wonder if Lila even knows who I am. It made me so happy to know she finds comfort in my presence.
I think that Rochester was really great, not that we learned a ton of new information (I'll explain later) , but that we know we have covered all our bases and that multiple specialists are in agreement as to what is going on with Lila. It was also nice for Quinn and I to have a few days away to process through this new Diagnosis and have long hard talks about what this means for us and for our future family.

Sweet Lila

medical records

I've been getting Lila's medical records in order. No one year old should have that much paper work...
At least she will have the cutest medical records!

The End of an Era.

One of my Favorite picture of them

Wednesday was my last day with the Johnson children. I have been their nanny for NINE years!!! I can't believe it. It so surreal.
We had a great last day (which I took pictures of but they wont download for some reason) we went to our favorite restaurant, Spaghetti Factory, played games and read books snuggled together on Williams bed. When Sara came home we were all sobbing, giving hugs and telling each other how much we meant to one another. It was pretty heart wrenching.
These kids have seen me through so much. Starting College, a bad first marriage, a divorce, going back to school, finding the love of my life, a wedding, apprenticing, getting my cosmetology license, our first home, going back to school -again-. two bachelor degrees, a beautiful baby girl of my own, her illness and subsequent heart break. They have been my little constants. It will be weird to go through life without seeing them on a regular basis.
I sure do love you guys! You are amazing. I know that I will still see you lots!

look who learned how to cry....

For those of you who have never seen Lila cry (which is most people) here are the cutest Pictures. Is it bad that I think she looks so cute when she cries? But it is also a little bit heartbreaking. Lila has discovered Crying, about the same time she forgot how to sleep, and she has been going at it with gusto, making up for lost time. She can cry for hours, who knew? I guess we are now getting the "normal" new parent experiences.

Lila's first drawing

our Vision therapist brought an ipad fro therapy this week. With a little help from mom Lila drew her first picture.