After months of waiting and wondering, the results of Joy’s whole exome sequencing (genetics) test came back and we finally have answers!! 

Joy has craniofrontonasal dysplasia (CFND). She’s 1 in 120,000.🤯 Her EFNB1 gene spontaneously mutated, meaning this was not inherited by me or Daniel. I’ll spare you all a lot of scientific jargon (you’re welcome to Google and read about it) but it basically boils down to this: this diagnosis explains every single abnormality we have discovered in Joy, and there isn’t anything new that would arise later in her life that we would need to watch out for. What we already know is what we’re going to get- which is an answer to prayer! There is a strange relief, almost a comfort that I can’t quite describe, in finally getting the answers we’ve been seeking since March. It’s been a long time coming. 

“When you hear hoofbeats, think horses, not zebras.” That’s a phrase taught to medical students to focus on the most likely diagnosis first. However, the rare disease community has flipped the meaning of the quote to encourage doctors to look for the uncommon, or "zebra". As a result, the zebra is the official mascot for rare disease patients and zebra stripes have become a symbol of awareness for the rare disease community. So if you ever see me refer to Joy as my little zebra, that’s why.❤️🦓 

In other news- Joy has kept her feeding tube out for 2.5 weeks now and is still going strong! We had our appt with GI on Monday and the doctor I met with (not the doctor we’ve met before who was pushing for a G tube) gave us the green light to officially discontinue use of the tube! We’ll keep a few of the supplies on hand just in case, since we are still working on improving Joy’s feeding skills and getting her to eat for anyone besides me, but it feels so great to finally be done officially!! 

Speaking of feeding skills, we did have our first feeding therapy session yesterday which went great. Joy is a big fan of the bubblegum flavored gloves!! 😂 

Today we had a follow up with cardiology to take a look at her heart after her SVT episode last month and her EKG was normal! The cardiologist does not have any concerns at this time and believes it was a one-off event spurred on by the stress of her surgery. 

So much good news this week! We are praising God for good reports on all accounts and for answers to questions we’ve been asking for so long. 

Thank you for the continued prayers and support! Merry Christmas and God bless you all!!