Finding answers for Effie
Donation protected
Hi, our names are Wylie and Debbie. We have two beautiful girls named Eliza and Effie. Eliza came into our lives in 2016. And Effie in 2021. Since Effie came into our lives, we knew she was different. With pregnancy, she was high risk because I had gestational diabetes from the first trimester. That’s really early to get gestational diabetes (we were expecting it since I had it with my pregnancy with Lizzie, but not so early). In my pregnancy with Lizzie, I had gestational diabetes in the third trimester and was able to control it with diet and exercise. With Effie, it was a completely different story. Not only did I get gestational diabetes way early in the first trimester, I wasn’t able to control my fasting numbers. I had to start using insulin and metformin once a day. That, combined with my anemia, made us both very high risk. During third trimester, they started twice weekly stress tests for Effie to make sure she was moving enough. At 38 weeks (luckily full term!), she had to come early because she failed multiple stress tests. They immediately sent me to the hospital and induced me with pitocin. She came out at a healthy 7 pounds 2 ounces. She was jaundiced and tested “positive ” for hyperthyroidism, but those numbers went down after multiple retests. Luckily her numbers were just low enough for jaundice that she didn’t need to do the light. I never could get her to latch, even with the help of a very sweet lactation consultant, so we bottle fed. At around two months, she started losing weight. After many sleepless nights and much crying from our poor Effie, we figured out she was allergic to milk protein and had GERD. She started gaining weight properly with a hypoallergenic formula. It took several months to get out of the 3rd percentile for weight. She never did go above 3rd percentile in height, though. That wasn’t the end of her issues, unfortunately. She had hearing issues and lots of ear infections. Those were both solved with insertions of tubes from our local ENT. She also went to the eye doctor and had terrible vision. (+5 in one eye and +5.5 in the other). While doing all of this, we also noticed she was developmentally delayed (which is to be expected with ear and eye issues). We waited for a couple of months to make sure we weren’t being overly cautious and to give her time to “catch up”, so to speak. At ten months, our doctor referred us to a government program called “Babynet”. It’s our states version of the federal early intervention program. It’s for children with developmental delays, and it’s been a blessing. We have an “early interventionist” that comes to the house once weekly to work with Effie and asses her needs. She’s awesome. She works with Effie on her overall skills, like fine motor; she also gets Effie the other therapies she needs. Now we have a PT and a ST that comes to the home and work with Effie to help her develop her speech and learn to walk. Her PT is the one that noticed low muscle tone, and falling, and suggested a neurologist. We went to the neurologist and she was diagnosed with hypotonia and macrocephaly. Hypotonia is usually caused by either a brain issue or genetics issue. So, we got an MRI and genetics testing. The MRI came back mostly normal. It did show a mild tonsillar ectopia, which is usually part of Chiari Malformation 1. However, they didn’t see Chiari so it was not concerning for now. They will probably redo the MRI at two, when her brain is no longer mylenating to make 100% sure she doesn’t have Chiari and there’s nothing else there. Her genetics came back with a rare genetic deletion of 16p11.2; which includes higher risks for speech issues, autism, Chiari, hypotonia, seizures, eye problems, heart issues and learning disabilities. She will likely struggle with learning and social situations for her whole life. Her hearing is luckily back on track and she will get glasses in two weeks. We’re hoping that will make life a little easier for our sweet girl. And our Lizzie is the best big sister to her special needs sister. Our next steps are to have follow ups with her neurologist and geneticist. We have a swallow study in August because Effie has trouble chewing and swallowing. She often spits out her food and then coughs. So we’re getting it checked out, out of an abundance of caution. We are also currently on an 8 month waiting list for developmental pediatrics. All money will go to past and future medical debt, possible equipment needs (like braces, special shoes, etc) and any other needs. We are so blessed with such good, sweet girls. And that’s why we’re here. To help them struggle less. Please donate what you can and pray for us. Thank you!
Organizer
Debra Shugart
Organizer
Easley, SC