Well actually it's more like one in 70,000. I can't believe that it's been 9 months to the day since my initial post about Olivia's health. So much has changed since then!
At the beginning of October they finally called to tell us that they had confirmed the diagnosis. Olivia has been through months of tests to reach this point. They've done 3 different skin biopsies, echo cardiograms, liver ultrasounds, we've collected countless urine and blood samples. They've sent off these samples to places in Alabama, New Mexico and South Carolina. Olivia's DNA has been completely mapped. We thank God that our insurance company has covered the thousands and thousands of dollars that these tests cost. Part of the reason it took so long to get a complete, confirmed diagnosis is because of the complicated nature of Olivia's condition. That and everything has been checked, and then double checked, and then checked again and confirmed in a different way. Mike and I both left work early and met up at the doctor's office to hear the news. Olivia does have a storage disorder, a type of Mucopolysaccharidoses, MPS III subtype B also known as Sanfilippo Syndrome to be exact. This occurs in approximately 1 in 70,000 kids. We sat there in a cramped doctor's office in an army hospital and heard that there was no possible treatment for Sanfilippo Syndrome and that typical life expectancy was "into the 2nd decade". And as if that wasn't enough of a blow Sanfilippo Syndrome is genetically inherited which means that both Mike and I are carriers of this recessive trait which means that any future children of ours have a one in four chance of also having Sanfilippo Syndrome (I was 8 months pregnant when we were hearing this news).
Olivia's diagnosis has completely changed our lives in so many ways. Mike and I are much closer. The diagnosis took our relationship to a whole new level, no one else will ever understand what I'm going through like he does. No one loves Olivia as much as he does We've learned more about supporting and respecting each other. We decided that I would quit my job after Peter was born. At the same time a lot of things are the same, Olivia is still doing well in speech, right now she's still a normal 2 year old.
Initially I wanted to tell everyone I knew about Olivia and Mike didn't want to tell anyone. I'm so glad that I listed to Mike and we didn't discuss it with people right away. We took our time talking about it with each other, praying about it. We focused on getting ready to welcome Peter into the family. Eventually we decided to tell our parents.
When Mike was in the field last month I happened to find a few random articles about how doctors at Duke University Medical Center were treating Sanfilippo Syndrome with cord blood transfusions. I actually found a clinical trial currently accepting patients at Duke. I gave the information to her doctor and he looked it over and is contacting the doctor running the clinical trial at Duke. Things continued and after several letters from various doctors and plenty of long phone calls with our insurance company we were able to get the insurance company to approve our request for Olivia to be evaluated by doctors at Duke University and at the University of North Carolina-Chapel Hill to see if she is an ideal candidate for the clinical trial going on here. We're actually in North Carolina now for those evaluations.
I've decided to share this info with our friends and family who read our blog because at this point I think that we need all the prayers and positive thoughts that we can get! We'll let you know how things go! We know that there are plenty of ways that you can help as we move forward but the best thing that you can do for our family right now is to keep us in your prayers.
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