Man, you guys – this is long overdue. Especially considering that my intention was to post this update along with these adorable photos from her Charlie’s 2nd birthday… whiiiiiiich happened in MARCH. Yeah. So basically I’m killin’ it, per usual. If you ever want advice on how to speed up your turn-around time on stuff, I’m definitely the girl to ask. (har har NOT!)
Anywho: it brings me genuine JOY to provide Charlie updates because the fact that people ask about her so often and want to hear how she’s doing literally melts my heart into a giant puddle of heart-goo. So thank you for caring about her.
If you’re new here, Charlie is my baby girl who has a super rare genetic disease called Congenital Disorder of Glycosylation, or CDG-1p (CDG disorder). She is one of less than 15 people who have ever been diagnosed with the disease. Symptoms/presentations include seizures (infantile spasms specifically), low muscle tone, developmental delays – Charlie is 2 years old but developmentally around 3-6 months (not sitting up on her own yet, etc.), being nonverbal, gastrointestinal issues (Charlie has a G-tube for feedings). You can read more about our CDG disorder journey with sweet Charlie babe and discovering her diagnosis HERE, HERE, and HERE.
CHARLIE UPDATE: Living with CDG Disorder
In short, baby girl is doing so well right now. Yahooo!
We are just thanking the Lord and praying that it lasts forever and ever! She has been seizure free since around the beginning of March, which is the biggest relief ever. EVER!! Nothing has been worse than watching her have these infantile spasms, you guys. They’re subtle in appearance, but so, so disconcerting because WE know how neurologically catastrophic they can be and we feel so helpless. It’s gut wrenching. So to have found the medication cocktail that made those subside is such a HUGE blessing that we pray stands the test of time. In best case scenarios, kiddos grow out of having seizures and are able to ween off of seizure meds without having them come back.
She is making slow but steady progress developmentally too. Charlie-babe rolls both directions now, from back to front and from front to back. She has started tucking her little knees under body as well, as if she’s wanting to crawl. Oh heaven help me, if my baby girl could ever crawl – how I would rejoice. That’s what we’re working on a lot with her right now in physical therapy. Crawl baby crawl! Can you even imagine? Overall her motor skills have come such a long way, and we could not be more proud or grateful.
You all remember this video that I posted on Instagram? It depends on the day, but in general she has started babbling like that way more often! Completely slays my heart.
She is also in SCHOOL now! There’s an early intervention program here that she attends four days per week for three hours per day, and it’s been awesome. They do a mixture of physical/occupational therapy stuff and then just playing with the kids – singing time, art work, stuff like that. Every time they give me a piece of art that she created, I literally start bawling, cuz #pregnancyHORMONES, and because it’s Charlie and she makes my heart so, so soft.
We still have no idea what the future holds for our Charlie-babe. People will ask me sometimes what her prognosis is… if she’ll ever talk, or walk… if she has a life expectancy. The truth is that I don’t know the answers to any of those questions. When a disease is this rare, there are few (if any) answers about anything really. And I’m not gonna lie – that part can be really hard. The one UPSIDE is that nobody can tell us what she can or can’t do. Nobody could have told us anyway – we wouldn’t have let them! :).
Thank you for your continued interest and love and prayers for Charlie-girl.
GUYS, one more thing: if you can find room in your prayers occasionally for this unborn baby in my belly, I’d SO SO SO appreciate it. The truth is that there is a high chance this baby will have CDG as well. 🙁 We’re praying very seriously and very earnestly for a miracle right now – no joke. And I believe strongly in the collective power of faith and prayer. So if you can remember to throw a little shout-out upstairs for ‘Unborn Baby Willardson’, it would mean the world to me.
Love you long time! Happy Thursday!
P.S. – don’t forget that Public Access to the Nordstrom Anniversary Sale starts TOMORROW!
That means anyone will be able to shop the sale, not just card holders – finally! Sale opens at midnight PST, so be sure to head back here for my roundup of RESTOCKS, STAPLES, and my tried and true favorites. You can see everything I’ve already posted about the NSale HERE. See you tomorrow!