Monday, October 14, 2013


Oh, you guys. I am SO overwhelmed with the kindness, the love, the concern you've shown for Amelia and our family. I have a list of people to contact (making a spreadsheet--gotta keep it organized!), and I've made some fantastic connections and gotten great information that I will most definitely use.  Please…keep sharing. I appreciate each and every comment, suggestion, and email more than you even know. Thank you, thank you, thank you!

I think I got a little click-happy and posted/shared without giving enough details about Amelia's story--I was just so excited by the thought of finding some connections that I wasn't thinking clearly. clarify, here is what we know about my girl:

* We were told at 22 weeks gestation that, based on her brain and heart on ultrasound, she likely had Trisomy 18, which is a fatal chromosomal issue. We were told not to expect her to live to birth. Fortunately, our first geneticist was at the hospital on the day that they were born, and told us that she definitely didn’t have Trisomy 18. She was still screened for it, and of course the test came back negative. She was 1 pound, 1 ounce at birth, and was in the NICU for 99 days just learning to eat and to gain enough weight to keep up her body temperature.

* She had a PDA that didn’t close with medication, which caused her to be on oxygen for the first seven months of her life.  She had the hole surgically closed (she was too small for a catheter closure procedure) and came through that procedure fabulously. She continues to be followed by a cardiologist, just to be sure all is well.

* She has Dandy-Walker Variant, which is less severe than Dandy-Walker Malformation. She has enlarged ventricles (can't remember offhand which ones are enlarged; it’s been awhile since we’ve even talked about this with a doctor), and she’s actually missing a part of her brain right at the stem because during her in-utero development, the fluid from the enlarged ventricles collected where her brain should’ve been growing.  Fortunately at this point, her cognitive development doesn’t seem to be impaired. In fact, she’s a pretty bright little girl, and that’s hard for me to say because as an elementary teacher, I have high standards. J She knows all of her letters and sounds, some sight words, colors, numbers through 12, shapes, etc.  We are followed by a neurologist who sees her yearly just to check in and see how she is doing. One of the potential complications of  DWV is hydrocephalus

* She has echogenic kidneys. This means that her very tiny little kidneys don’t work at 100%. She’s followed by a nephrologist who keeps a pretty good eye on things through blood draws, urine samples, and kidney ultrasounds every six months. So far, they’ve not gotten any worse, so we just watch and wait and hope for the best.

* She does NOT, according to three blood samples and two endocrinologists, have a growth hormone issue. Three blood draws at two different hospitals indicate that her levels are very normal. Our endocrinologist followed her for about a year and a half and dismissed us this past summer.

* She does NOT, according to two geneticists, have Russell-Silver Syndrome. I really thought that was our answer; she really looks like a child with RSS and has some of the characteristics. However, both geneticists agree she doesn’t have all of the hallmarks, and that she is in fact too small for that diagnosis. We continue to see a geneticist in Cincinnati.

That’s Amelia’s life, in a nutshell.  She is also a very feisty, spunky girl who loves to learn, loves Minnie Mouse and Doc McStuffins, has an amazing imagination, and makes us smile every single day. She’s our miracle baby, and we just want to pursue a diagnosis. We realize that we may never get any real answers, but I would, quite honestly, feel like a failure as a parent if I didn’t continue to at least try.  We've never spoken to or seen any real experts in the field, so that's where I feel like we need to go next.  Our geneticists have admittedly not seen anyone quite like her, but I just can't shake the feeling that someone else might have. Gotta keep on keeping on.

Thank you, again, for all of the advice, comments, everything. I feel so undeserving of it all—it’s surreal. I’m going back to my regular, snarky, silly blog posts, but I’ll definitely update as I get return emails from all of my requests, so I’d love it if you’d check back in and see how we progress!

Sending all kinds of love through the interwebs to you all.

1 comment:

  1. I'm involved in a support group for a rare pregnancy condition I have and we have members all over the world. I thought that due to some of the health conditions we face that some might have some insight. I'm hearing the most about Johns Hopkins and Nemours. I know the latter was already on your "possible"list. I hope you get answers. I feel like we moms are driven by a need to know why. <3