Evangeline's Story written by her Mom, Heather
Evangeline (Vani) was born March 22nd, 2007. We had had some abnormal ultrasounds, but ultimately the doctors gave us the "all-clear" to have a healthy, normal delivery. At birth, nothing abnormal was detected, however over the first couple weeks, it became clear that she had a very weak suck while nursing. Because of this, she wasn't gaining the weight she needed. So, at 2 weeks of age, I started using a Supplemental Nursing System at every feed. I did that for the next 5 weeks straight.
When she was 7 weeks old, on Mother's Day, she had her first seizure. She would have 3 more that day, the last of which we caught on camera and took to the ER with us. She was admitted immediately and we would spend the next 11 days in the hospital trying to figure out what was going on with our "healthy" baby. At one point during this stay, we ended up in the PICU with Evangeline. We would later find out that she was having a horrible reaction to a UTI (caused by poor hospital practices) combined with the seizure meds they were trying. During this time, the Intensivist (the PICU doctor who literally introduced himself by saying he was the doctor who we didn't want to ever have to see, and that he would only come in if things were really bad- otherwise he would just watch from a distance) came in and told me that he didn't know what was going on with Vani, but that anytime he had seen such strange things, the future wasn't very hopeful. So he basically told us to be ready for some very hard and awful things. I remember looking at the sweet little girl in my arms after he left, and knowing beyond a shadow of a doubt that I would do anything for her. Even though our dreams for her life were crashing down around us, nothing could change the fact that she was exactly the little girl I had dreamed of and hoped for. We were eventually discharged from the hospital on daily seizure medication, with an official diagnosis of "idiopathic seizure disorder."
Fast forward about a month. Evangeline had been sick with the flu for a few weeks. I had been in and out of the doctors office with her multiple times, only to be told to go home and give it another week. After week three of this, while at the doctors office meeting with a P.A. who also wanted to send us home, I saw her doctor out in the hall and demanded to talk to her. She came in and after listening to Vani decided we should check in to the hospital for possible pneumonia. I felt relieved that, at least, someone was taking this seriously. After numerous tests at the hospital and suspicious whispering between the nurses and doctors, a pediatric cardiologist (the same one who had given us the all-clear when I was pregnant) came in with grave and shocking news. He told me that Evangeline was in heart failure, and had something called Dilated Cardiomyopathy. He ejection fraction was dangerously low, and her prognosis was not good. If she survived, she may need a heart transplant, or at best just be on medication the rest of her life. We had to be rushed to the PICU again, and more testing was done. My heart broke a thousand times into a thousand pieces as she had to endure test after painful test, all the while looking into my eyes as I lied to her that it would be ok. I can think of nothing worse in this life than watching your child suffer.
During this stay in the PICU, she would develop a life threatening intasusseption of her bowels. After gruesome measures to get this to resolve outside of surgery, she had to be rushed to the OR to save her life. I stayed on my knees the entire surgery, praying I'd get to see my girl alive again. The surgeon came out and said she made it.
After weeks in the hospital, with a medication regimen that would make anyone's head spin, we were finally able to take her back home. Evangeline's medical status seemed to only get more and more complicated, and although the doctors tried to find an over-arching diagnosis to make it all tie together, they came back stumped with every test. All we really knew was that our daughter was extremely fragile and I'll. Over the next year, we would focus simply on keeping her alive and giving her the best life possible. There were many weeks where I fed her by dripping milk into her mouth, 1cc at a time. She was simply too weak to suck.
Fast forward many hospital and doctor visits and milestones missed, and at 10 months old Evangeline stopped eating all together. All of my tricks and tools for getting her to take just one more calorie and medicatiton would not work anymore. I'll never forget the moment she simply refused to open her mouth, and the sweet little compassionate look she gave me that said, "I love you mommy, but it's just not worth the effort anymore." If it weren't for the gtube placement surgery that happened shortly thereafter, I know we would have lost her.
The gtube was a literal lifesaver, and within 3 weeks, my precious girl had gained 3 pounds! This gave her some much needed strength, and she started sitting up for short amounts of time around 11 months. Around her first birthday she started rolling from her back to tummy! We were so thankful for the small but meaningful gains and improvements, and truly in awe to be celebrating her first birthday.
Over the years, she's reached some milestones in her own time, some have yet to come, and some will never be. But that only enhances the celebrations when they come, and we love all of the valient ways that she compensates! She learned (after intensive daily therapy) to bring food to her mouth before her 2nd birthday. She started crawling at 2. She started using a walker when she was 3, and by 4 she was bravely walking on her own. She is nonverbal, but that doesn't mean she doesn't have a LOT to say! She communicates in a variety of ways, and it's hard for her to find a person who she can't make her point to!
For the sake of time, suffice it to say that her roller-coaster-ride-of-a-life hasn't slowed down. She is 10 now! She has brought us more joy than I knew was possible to have on this earth, and our hearts have been expanded and broken more times that I knew we could sustain. The Lord has truly shown us His faithfulness and goodness despite terrible circumstances. We continue to have more trips to the doctor in a year than we want to count, and they know us pretty well at the hospital and ER as well. She has picked up many more diagnoses, including severe PTSD (from all the medical trauma), Ulcerative Colitis, Intractable Epilepsy, Esotropia, Nystagmus, Dyspraxia, and Sensory Processing Disorder- just to name a few!
It wasn't until she was 6 years old that we would finally get the diagnosis that put it all together- 1p36 Deletion Syndrome. Up until that point we joked that our daughter would surely have a syndrome named after her! Finding the 1p36 family has been incredibly life changing and eye opening. It's hard to express how invaluable it is to be connected to a whole community with the same or similar circumstances.
We were able to attend our first 1p36 DSA conference last year in San Diego. Not only is the community of families wonderful, but the 1p36 DSA organization itself it truly run with passion, dedication, and professionalism. We're so thankful for all those who make it possible.