I, like so many of you, have prayed relentlessly for answers since 2010. First for our sweet Addison, and then you were with us as it happened again, with the birth of little Audrina. I dont choose the word 'relentless' lightly - I specifically love the word because it describes so much of our journey.
The definition of relentless, as it pertains to a pace or intensity, is "Steady and Persistent". I think that so accurately describes our lives since Addison's birth, both in the good and the bad. Our pain has been steady and persistent, certainly. There have been so many bad days. Days of anguish, of frustration. But slowly, there began to be days of peace, days of understanding, and most importantly, days of hope. I found these days became more frequent as my faith grew - from an unsteady foundation, tested by an emergent obstacle - to a mustard seed of true belief - to an explosion of love and a renewed trust in God. And now, now... my faith is steady and persistent as well. My passion for believing He has a plan for the girls is RELENTLESS, too!
The best part of it: There's no room for fear in a heart with relentless faith.
Adam and I have some incredibly promising and equally difficult news to share tonight. My absence on the blog the past few days was a chance for us to digest the information we've recently learned and make plans toward the next steps. Now we are ready to share it with our blog family.
Many of you know, Addison underwent Mitochondrial Disease testing and bloodwork for a gene called POLG1 and we have been waiting on results for several weeks. That is not uncommon when you get to these types of blood tests - they typically take up to 8 weeks or more. The 8 weeks passed and I called the geneticist to see if they had heard anything about when they might expect results. Normally, the genetic counselor who we love, is diligent about quickly returning my phone calls. So when a couple days passed without her returning my voicemail I started to worry a bit.
After a few days, she called and started out by saying the POLG1 was back and it was normal. I am used to hearing this, so I just said, "Okay, what is our next step?" Then unexpectedly, she explained how this test works and that it also detects problems near or related to the gene being tested. She said the test actually found another abnormality, a chromosomal deletion on another gene - and this deletion is well known as a disease-causing one, specifically a couple different types of Mitochondrial Disease. The reason they took so long to call me is because they were calling other hospitals and specialists, trying to figure out if this deletion was truly the answer. They still are unsure, but recommended we continue with muscle biopsy testing.
All the while, we have been researching Mitochondrial Disease and one name continues to leap out at us from everyone we talk to. Dr. Fran Kendall is her name, and she is considered one of the leading experts in the world on Mitochondrial Disease and other 'tricky' to diagnose diseases. I knew I wouldn't feel comfortable proceeding to the biopsy without someone making sense of all the confusion surrounding the genetic findings, and I feel very confident in her abilities.
After a long talk, they scheduled both girls to be seen together on October 30 in Atlanta, GA. Our insurance may not cover most of the appointments, but at this point we feel like she would be such an asset to us when we are possibly on the verge of a diagnosis. Dr. Kendall believes she may have enough information to diagnose them without the biopsy.... which of course we would love to avoid with Addison's history of regression.
So the kids, and Adam and I, will travel to Atlanta in a few weeks, I will post more updates about our trip as they become available. We appreciate your thoughts and prayers throughout whatever lies ahead. Can you believe we might finally get our answers? Our search will continue to be RELENTLESS until we finally know we have done everything we possibly can.
Hope you are all enjoying a beautiful weekend. Tomorrow, I will post an update about our fundraising efforts for this trip, we had a garage & bake sale the past couple of days to begin the newly established Chasing Zebras Fund. So blessed to have the support of our friends and family!