Wow! It has been a LONG time since I blogged. Since this started as a blog about Ashton and our family's journey dealing with Cystic Fibrosis, I tend to wait until I have something to report. Typically, nothing exciting is GOOD. Today we have exciting and good news though.
First, Ashton is doing GREAT! We have left monthly appointments behind and moved to quarterly appointments. This includes one "big" appointment per year in which we do all of the testing we did in the beginning, again. We did that on Feb 17th. We got xrays, stool elastase, cough culture (we do that one everytime) and blood work. The results were GREAT. They had NOTHING to report to us! One of the coolest parts is that even with not being able to get her to dring her nasty cf vitamin for several months, she showed NO vitamin deficiency. Bye bye nasty vitamin:)
When she is 18 months old, they will measure her for a vest, which will do the chest physical therapy for her, ie., NO MORE BOP BOP! Let me hear and AMEN! However, our next appt falls at 17 months, so we will have to wait until the next one, 20 months, to get measured. You also have to be 18 inches around the chest, which I am not sure she will be at that point.
If you haven't heard, we have a team walking in Ashton's honor at Great Strides, the Cystic Fibrosis Foundation's largest fundraiser. "Ashton's Army" has 12 team members and has already done a really good job of fundraising. I want to give a huge shout out to all the team members, I can't wait to see you guys on May 15th! (If you want to donate in Ashton's honor, go here http://www.cff.org/Great_Strides/FaithStewart and make a secure online donation in seconds.)
Now, the most exciting part EVER. For background on Ashton's specific mutations read previous posts if you haven't already. It might help you understand this one. Aaron and I both randomly search the internet for information on the very rare mutation that Ashton has. If you'll recall, at the time Ashton was diagnosed, she was only the second person in the WORLD documented to have this specific mutation. When they tested Aaron, the lab told us that he and Ashton were the only two people in their ENTIRE SYSTEM to have been found to have it. (Aaron is only a carrier, and the other person diagnosed was over seas, so wouldn't have used this lab.) Our searches never turned up much, just the same stuff we had already seen. The data bases still only reported the one case, Ashton had not hit their radar yet. No new info on prognosis, no extensive testing on this rare mutation, nothing. Until yesterday.
Yesterday I had an unexplainable urge to search again. Randomly? Maybe. Do I believe that? No. God speaks to me, I know that. I've shared some of it here. I will share more soon. So, I searched. Nothing new at first. I have the hits memorized. Then I saw a new article. I could only see the abstract, but it was enough. It was published around the time we left Wynne it looked like. It came from researchers in Memphis about a case at Lebohner where a baby had this same rare mutation. Some of you may not know, but this in only about 45 minutes from WYNNE! Anyway, I won't bore you will all of the details, but the situations are eerily similar, with a few notable differences. The coolest part is these doctors did IN DEPTH research of this rare mutation. The did research at the molecular level, discovered just how efficient (or ineffiecient) it is, and determined... are you ready for this? They determined there are drugs in the pipeline right now that can correct the inefficiencies in the specific mutation!!!!!! Remember, you only need one chromosome that works correctly for the gene to function correctly. This was INCREDIBLE news. We have been in contact with our dr at Children's, and with those involved in the research at Lebohnner. I will update as this story unfolds, but for now, say it with me, GOD IS GOOD!