Chances are, before you met Evan or stumbled across this blog, you had never heard of MSUD. We hadn't either, and it's not surprising, as it's what is considered a rare disease. Current statistics estimated that only 1 in 180,000 babies are born with MSUD.
Living with a rare disease is difficult. There is very little understanding, both from the general public and the medical community. Imagine having to explain your disorder and it's effects several times a day, every day, for the rest of your life.
Global Genes, through the RARE project, is working to bring awareness to rare diseases. They have declared February 29th World Rare Disease Day.
This is 30 days from now, and the number 30 is significant - 30% of children with rare disease die by their 5th birthday.
More statistics:
An estimated 350 million people are affected by rare diseases worldwide.
1 in 10 Americans is affected by rare disease. That's over 30 million people. 30 million Americans is more than the total number of people living worldwide with cancer (28 million according to the Livestrong Foundation).
There are more than 7000 rare diseases with some affecting less than 100 people. 75% of rare diseases affect children.
Almost 80% of rare diseases are genetic in origin.
These rare diseases are chronic, life threatening, and FATAL. Only 5% of these diseases have any kind of treatment.
Over 50% of rare diseases have no foundations, advocacy groups, or community support.
Surprising statistics, aren't they?
But you can take action!
Help Unite 1 Million For Rare on the Global Genes Project Facebook page so that we can increase awareness to the rare disease community.
Wear That You Care (using jeans to call attention to genes that can cause rare disease) on World Rare Disease Day and encourage others to do so too. Include your schools, sports teams, places of worship, friends, family, and coworkers! Share your photos and Facebook and tag Global Genes Project.
Donate a bracelet to the 7000 Bracelets for Hope campaign and bring hope to a child/family living with rare diseases.
Are you living with rare? Sign up to receive one of the 7000 Bracelets via the Global Genes website and also join the R.A.R.E network.
I also ask that you support the other bloggers who are blogging today to raise awareness of World Rare Disease.
Evan in park
Sunday, January 29, 2012
Friday, January 20, 2012
Status 1B
Got an email this afternoon.
Evan is officially listed at Status 1B. Hopefully we don't have much longer to wait until Evan gets his new liver! Now the real waiting has begun. I keep looking at my phone like it should do something. I am sure that from here on our every time the phone rings I will jump.
Evan is officially listed at Status 1B. Hopefully we don't have much longer to wait until Evan gets his new liver! Now the real waiting has begun. I keep looking at my phone like it should do something. I am sure that from here on our every time the phone rings I will jump.
Thursday, January 19, 2012
Is this really happening?
Each day the reality that Evan's transplant could actually happen gets closer and closer! Today I spoke with the insurance and got the name and phone number of the air transportation company that is going to transport us when we get "the call". Of course, as any mother would do I called them to get my questions answered (finally)!
Will both parents be able to be transported with Evan?
How do we get his carseat to Cali?
How much luggage can we bring?
How long will we have to get to the airport?
Where will be meet the air plane?
What kind of plane will it be?
SO MANY QUESTIONS!
Here are the answers I got...most likely, both parents will be able to go, but that will mean no luggage. (That's okay...I'd rather have my whole family together than my clothes anyway!)
Evan's carseat will be strapped to a stretcher and that's where he will sit for the flight.
We will most likely have about an hour and half to two hours to get to the airport.
We will meet the plane at the private fueling area of the airport. They will give us an exact address and phone number when we get the call.
It will most likely be a leer jet that picks us up.
Honestly..I am just relieved that we will most likely NOT have to worry about getting one parent a commercial ticket to fly out to California. That was my biggest fear..that we would not all go to California together. That one of us (most likely me) would have to sit alone in a waiting room while Evan was transplanted while the other was trying to make his/her way there.
Tomorrow Evan's status should be changed to 1B which is only below children who are nearest to death. That means that this is really happening and it will be sooner rather than later. This means the wait is getting shorter. By how long...who knows.
We are still waiting and the waiting is anxiety ridden and frustrating. The phone rings and all I do is wonder..is it? When will it be? How many more rings before it's the one?
Will both parents be able to be transported with Evan?
How do we get his carseat to Cali?
How much luggage can we bring?
How long will we have to get to the airport?
Where will be meet the air plane?
What kind of plane will it be?
SO MANY QUESTIONS!
Here are the answers I got...most likely, both parents will be able to go, but that will mean no luggage. (That's okay...I'd rather have my whole family together than my clothes anyway!)
Evan's carseat will be strapped to a stretcher and that's where he will sit for the flight.
We will most likely have about an hour and half to two hours to get to the airport.
We will meet the plane at the private fueling area of the airport. They will give us an exact address and phone number when we get the call.
It will most likely be a leer jet that picks us up.
Honestly..I am just relieved that we will most likely NOT have to worry about getting one parent a commercial ticket to fly out to California. That was my biggest fear..that we would not all go to California together. That one of us (most likely me) would have to sit alone in a waiting room while Evan was transplanted while the other was trying to make his/her way there.
Tomorrow Evan's status should be changed to 1B which is only below children who are nearest to death. That means that this is really happening and it will be sooner rather than later. This means the wait is getting shorter. By how long...who knows.
We are still waiting and the waiting is anxiety ridden and frustrating. The phone rings and all I do is wonder..is it? When will it be? How many more rings before it's the one?
Wednesday, January 18, 2012
Getting ready...
It's been a crazy week since family left. We have been getting things in order so that when we get "the call" we aren't scrambling to make sure things are taken care of. Bags are almost packed and directions have been given to those who will watch the house and the dog. Sadly...we still don't know which company has been contracted for our transportation. We know it's been approved, but we don't know who it's going to be which makes it difficult to figure out if we are all traveling together or if one parent will have to travel commercially (We are PRAYING that is not the case).
Evan had more labs drawn on Monday and along with that his current weight (8.97 kilo) and height (72.7 cm) have been sent of to Stanford so that his transplant list status can be moved up to 1B this Friday. I can't believe it's been almost a month since Evan was placed on the list for a new liver. Man, the time sure does fly! We are hoping the call won't come too long after the status change. The wait is going to be killer!
We had a tiny glimpse into what it will feel like the moment we get "the call". On Monday morning at 2:45 am our home phone rang. Of course it woke us out of deep sleep and I jumped when my brain thought of Evan and his transplant. I kept thinking we weren't ready because he's not supposed to be eligible yet because of his immunizations. Once I answered the phone and realized who it was I relaxed for a moment. It was JR's work calling because they had a real world mission and needed him to go into work. An autistic teen had gone missing while hiking with family in White Sands NM. He had been missing for more than 12 hours at this point and ground and air searches had been unsuccessful to that point. By the time Gary's crew had arrived the teen had been missing for several hours longer. However, an hour and a half into their search, they spotted the boy, who was in remarkably good shape. He was carrying a red sled (for sand sledding on the dunes). That is how they saw him. Because the boy was in such good shape, they were able to return him to his mother rather than take him to the local hospital.
I am so proud of my husband and his crew for a job well done!
Evan had more labs drawn on Monday and along with that his current weight (8.97 kilo) and height (72.7 cm) have been sent of to Stanford so that his transplant list status can be moved up to 1B this Friday. I can't believe it's been almost a month since Evan was placed on the list for a new liver. Man, the time sure does fly! We are hoping the call won't come too long after the status change. The wait is going to be killer!
We had a tiny glimpse into what it will feel like the moment we get "the call". On Monday morning at 2:45 am our home phone rang. Of course it woke us out of deep sleep and I jumped when my brain thought of Evan and his transplant. I kept thinking we weren't ready because he's not supposed to be eligible yet because of his immunizations. Once I answered the phone and realized who it was I relaxed for a moment. It was JR's work calling because they had a real world mission and needed him to go into work. An autistic teen had gone missing while hiking with family in White Sands NM. He had been missing for more than 12 hours at this point and ground and air searches had been unsuccessful to that point. By the time Gary's crew had arrived the teen had been missing for several hours longer. However, an hour and a half into their search, they spotted the boy, who was in remarkably good shape. He was carrying a red sled (for sand sledding on the dunes). That is how they saw him. Because the boy was in such good shape, they were able to return him to his mother rather than take him to the local hospital.
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| Here is a picture of the rescue crew and Angelo (the teen they rescued) |
Thursday, January 12, 2012
Evan's Baptism Weekend
This past weekend was wonderful! We had quite a bit of family come to help us celebrate Evan's baptism! It was wonderful to see so many family members together since we haven't seen family for quite a while.
Friday family came into town, so we just had a spaghetti dinner at the house to enjoy some time together.
Saturday was Evan's baptism day! What a beautiful day it was! We had a total of around 35 friends and family come to the church and then to lunch to help us celebrate! Thank you to each and every one of you for being a part of this special day for us. The Baptism was beautiful. Evan cried a bit when he was submerged in the water in the baptismal font. You will see in one of the pictures that he actually held on to the table in front of him as if to say "don't put me in there again". (For those of you that don't know, in an Orthodox baptism, a child is submerged into the holy water 3 times).
After the baptism, we went to lunch at a local Greek restaurant, Yanni's. The food was FANTASTIC as was the service! I could not have been happier with how things turned out!
Friday family came into town, so we just had a spaghetti dinner at the house to enjoy some time together.
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| Great Aunt Bessie meets Evan for the first time! |
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| Evan meets mommy's cousins Alex and Lauren for the first time. |
Saturday was Evan's baptism day! What a beautiful day it was! We had a total of around 35 friends and family come to the church and then to lunch to help us celebrate! Thank you to each and every one of you for being a part of this special day for us. The Baptism was beautiful. Evan cried a bit when he was submerged in the water in the baptismal font. You will see in one of the pictures that he actually held on to the table in front of him as if to say "don't put me in there again". (For those of you that don't know, in an Orthodox baptism, a child is submerged into the holy water 3 times).
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| Praying before Evan is baptized |
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| Evan is baptized! Can you see he's not too happy? |
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| Being annointed with holy oil. |
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| Being changed into his new clean garments. |
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| Very dapper! |
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| Evan and Yiayia (my mom) |
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| Even being confirmed |
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| Evan and his Nouno (Godfather) |
Father Conan was wonderful and really shared the baptismal process with our friends and family. He explained the meaning behind everything and really did a great job making sure that we all understood what we had just witnessed.
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| Father Conan teaching us all about the meaning behind Orthodox baptism |
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| Evan listening intently to Father's speech |
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| Evan and his Daddy! |
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| Evan's beautiful cake (c/o Sam's Club) |
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| Members of our Military Family The Poes, Chases, and Franzes |
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| The Sacks and the Ostroskis |
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| The Frieszes and the Willinghams |
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| Yiayia, Great Aunt Mary, Great Aunt Bessie, Great Grandparents, Alex, and Lauren |
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| Father and Prevytera Conan with their son Nikolaus |
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| Thea Georgia |
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| Dad and Kristy |
What a blessed day we had for Evan! :)
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