The Journey Continues...With Lots of Medical Jargon

In the months since Vivian's birth and the initial diagnosis of her congenital heart defect, we've been discovering other health issues. It turns out her heart, eyes, ears, development and more are all affected by a rare and complex genetic syndrome called CHARGE. We've recently received this official clinical diagnosis from our geneticist.

I've known about CHARGE since accidentally stumbling across the information on the internet last fall. It was one of those moments when I just knew. And it sent me into a not-so-pretty tailspin. It would be a couple of months, however, before we heard the words CHARGE uttered by a doctor. And even after that, Vivian's diagnosis was pending as we continued to see specialists and put the pieces if the puzzle together. All the while, my mamaheart knew, and was ready to hear the words when the geneticist spoke them.

It's been a road - one that I've been writing about and will probably share bits and pieces of- but, overall, we're in a good place right now.

Healthwise, here's what we know:
+ We all know about Vivian's heart. That's been corrected - she'll need valves replaced in the next 10-20 years, but that's minor compared to December's surgery.
+ She has a coloboma of the eye (the retina didn't close all the way during development in utero), but we know she can see. When she's older, we'll know the extent to which the coloboma affects her vision.
+ She has hearing loss, and we're still waiting to know the extent of that hearing loss. Her recent re-test (after the botched test last fall) was postponed because she had a little fluid in her ears.
+ She has a unilateral choanal atresia, which means that one of her nasal passageways is blocked by boney cartilage. So, she's been breathing through one nostril her whole life, which contributes to her adorable snorts and tiring out during feedings. This will be corrected with surgery this fall.
+ We know about Vivian's developmental delays and the huge strides she's made in the past few months. We will be finding out more about the extent to which her physical body makeup affects her balance and gross motor skills.
+She will have a blood test to determine if there is a mutation on the gene CHD7. This mutation was discovered by researchers four years ago, and wouldn't change her diagnosis or prognosis, but will just be additional information.

Over the months, we've established an amazing team of doctors and therapists to follow and support Miss Viv. Seeing them all keeps us very busy! I am so, so thankful for warm-hearted, gentle and caring people who also happen to be experts in their respective fields. We are in good hands.

I am really open about Vivian and her diagnosis. Please don't ever hesitate to ask questions about CHARGE Syndrome or Vivian.

To find out more about CHARGE syndrome, you can visit the CHARGE Foundation's website.

In a good place