Happy Monday dear friends. Hope you all had the most wonderful Mothers Day!
(ok, deep breaths Shannon) Bear with me here you guys. Again, these posts never feel easy to write. I’m also pressed for time at the moment so I’m sure this will be severely lacking in eloquence or feeling and it may be too short to warrant the subject matter. Forgive me for all of that.
If you’ve been following our daughter Charlotte’s story and if you read this post, then you know that a series of health concerns early in her life has lead to months and months and months of tests and doctor’s visits and poking and prodding in an attempt to find the cause of these health issues. In total it has been almost 10 months now of this.
I wanted to share with all of you today that we finally have a confirmed diagnosis. Charlotte has an incredibly rare genetic disease called CDG-1p (or more specifically ALG11-1p). CDG stands for congenital disorder of glycosylation. Here’s a small description of CDG (full text can be found here):
Congenital disorder of glycosylation (CDG) is an umbrella term for a rapidly expanding group of rare genetic, metabolic disorders due to defects in complex chemical process known as glycosylation. Glycosylation is the process by which sugar ‘trees’ (glycans) are created, altered and chemically attached to certain proteins or fats (lipids). When these sugar molecules are attached to proteins, they form glycoproteins; when they are attached to lipids, they form glycolipids. Glycoproteins and glycolipids have numerous important functions in all tissues and organs. Glycosylation involves many different genes, encoding many different proteins such as enzymes. A deficiency or lack of one of these enzymes can lead to a variety of symptoms potentially affecting multiple organ systems, and in short
So what does this all mean? Well, to be honest we don’t really know. We’re still figuring it out. But here’s what we do know…
The Good News:
- We have a diagnosis. That in and of itself is a tremendous, tremendous blessing. In my last post about Charlie I mentioned that no diagnosis was scarier to me than a confirmed diagnosis, so we feel incredibly fortunate to know for sure what we’re dealing with here.
- A confirmed diagnosis means that we’ll be able to do IVF for all of our future children, in which they can test for the genetic mutation of the congenital disorder before implantation and hopefully prevent us from having any other children who inherit the disease. Modern medicine is such a miracle.
The Bad News:
- Currently there is no treatment for her type of congenital disorder. Ugh… gut wrench. Learning this was honestly the hardest thing of all. As you can imagine with it being such a rare disease, there aren’t exactly teams of doctors plugging away at finding cures. However, there are a couple of doctors/researchers who have dedicated their life’s work to Congenital Disorder of Glycosylation. One of them lives in the U.S. and we have been fortunate to have connected with him and are currently working with him on Charlotte’s case. He is the doctor that confirmed her diagnosis, in fact. We are hoping and praying that they’ll be able to develop a treatment for the disease, albeit at this time there isn’t one.
- Because the disease is so rare, we basically still have no idea what it means for little Charlie girl’s future. Will she ever walk, or talk? Does she have a life expectancy? Will there be other issues down the road as a result of her having this disease? Honestly we have no idea, and no doctor will give me even a fraction of prognosis. That part has been hard.
So there it is. Today Chase and I are actually headed to Sacramento where we will be meeting Dr. Hudson Freeze (the doctor who has been working on her case) and a few other parents of Congenital Disorder of Glycosylation children to petition the California legislature to make May 16 national ‘CDG Awareness Day’. I’ll be honest, I have little to no idea exactly what we’ll be doing to try to achieve that, but I’ll try to document some of it on Insta stories so you can follow along there if you’re interested.
Why am I telling you this?
- Obviously as a follow up to this post and others where we’ve documented this journey…
- But more than anything because as I’ve chosen to be vulnerable and open instead of isolated and closed, I’ve discovered incredible solace and uplift — and it’s come in the form of your support. YOURS, you guys. Truly. The response we got on our last post gave me wings. It made me feel like there were so many people rooting for our baby girl, and that we can do this. Thank you, thank you for that support. Thank you for caring. Thank you for being here, with us through all of this. It is yucky and the worst kind of hard and I wish it were all so, so different if I’m being honest, but feeling like I’m not going at it alone makes all the difference in the world. So THANK YOU.
- Lastly, and perhaps most importantly, I’m sharing this because there may be others out there who need this information. Obviously, this is our situation now, so it’s going to be a regular part of our dialogue. In the coming weeks and months I may be sharing a bit more detail about what lead us to our initial hospital visit with Charlie and what we experienced along the way. When we were at the beginning of all this, our impetus for getting things checked out was watching a few random videos online that looked similar to how Charlie had been behaving. It’s how we first learned about infantile spasms (which Charlotte was in fact having) and the driver for us going to the hospital initially… all of which lead us to where we are now. And as exhausting and yucky as that journey was, I’m so grateful to have an answer and to now know what I’m fighting for/praying for/dealing with. In case our story can be helpful to anyone in any way, I feel like it’s my duty to put it out there.
Again you guys, please forgive the lack of emotion in this post. We’re headed out the door in just minutes to go to Sacramento. Please follow along if you’d like, let me know if you have any questions about Congenital Disorder of Glycosylation (although I’m not sure I’ll be able to answer any of them), and as always, THANK YOU so very very much for your ongoing care and support of our baby girl and our family. It means so much more than you could ever know.
WE LOVE YOU LONG TIME.