Adalynn Carlee Cox was born on December 12th, 2014 and weighed 6lbs 12oz.
She had 10 plexus cyst in her brain while in the womb and her 3rd ventricle was a little swollen. We went to specialist who said they believed she had Trisomy 18 or Down Syndrome and suggested me to have her amniotic fluid tested. I declined. Her cyst started going away and swelling was going down some before birth. Around 7 months pregnant I started going into labor and had it stopped 3x in a month’s time. At 34 weeks and 6 days pregnant I woke up at 1:30 am to my water breaking and her placenta erupted, so blood was everywhere and I was rushed via ambulance to the hospital where we found she was fine, but coming whether we was ready or not!
13 hours of labor and she was born. Adalynn’s doctor got mixed up by the hospital, so she never got her ultrasound on her head to check the cysts. At her 2 week checkup, she had lost weight and was going to be sent back to the hospital if she lost another pound. She was now at 4lbs 8oz. She started finally gaining a small amount of weight but stayed so bony looking till around 9 months old (hypotonia). I knew something was wrong because she wasn’t like her older brother and sister and meeting her milestones. I addressed her doctor who just assured me that some baby’s take their time.
Around 9 months, she started to sit up by herself even though she could not keep her balance well. At 11 1/2 months, she started to pick up food and put it in her mouth but was still choking on everything. At 13 months she began to crawl, at 15 months she took her first steps and didn’t quite get it till around 20 months. She would fall so much and I was really concerned so I contacted early intervention myself. At her 18 month checkup, she failed her milestone test but her doctor said she would see how her 2 year checkup went before she made any diagnosis. At her 2 year checkup, Adalynn failed yet again, they came in and went over the answers with me again to make sure I comprehended and done the test 1 more time. After her 2 year checkup up she was referred to the autism center here even though her doctor would not tell me what was wrong. A month later, she had a grand mal seizure in her sleep. We took her to the hospital the next day because her doctor was not in a rush to see her and we had no clue as to what to do. At the hospital, they call LeBonheur Children’s Hospital and rushed an ambulance to pick us up. We spent 3 days at LeBonheur with doctors in and out asking questions, doing tests and an MRI and an EEG. The EEG showed to be fine but had abnormalities and showed a developmental delay. Her MRI showed a narrow aca in her brain and it was duplicated and had a vessel that leads to nowhere and tapers off. They found nystagmus in 1 eye and suspected autism, so they ordered blood work for genetics. I signed a paper to donate any leftover blood for research. We were finally sent home with Adalynn still clueless and very upset with the instructions and understanding that we would be doing this every 3 months.
We started therapies in the mean time for speech and occupational therapy. Her doctor still didn’t want to help so I called and got her in with another doctor. This doctor helped with referrals mostly and got her instructions with Jackson’s Batson neurology. We went to Batson and was told to get a bigger folder for her paperwork and told that they would love to take her as a patient. Adalynn started pushing away from all her close family at this time; she wasn’t acting like our Ady anymore.
Finally we got the call to come in for results on her tests and we were so nervous. We got to the room and they handed me 3 sheets of paper and said dup15q and further testing would need to be done on me and her father. Everything wasn’t sinking in because I still had no clue what dup15q was! We went and did our blood work and went home. At home I Googled and cried and called my mom. Our next appointment came for Ady’s 3 day video EEG and results on my blood was in and clear but not on her father’s yet. Her EEG showed the same thing and was normal for dup15q. She was now also diagnosed with separation anxiety and anxiety. We went for her autism diagnosis and it was confirmed from 2 different places that she was on the spectrum. Finally we got her father’s results that showed he has the same condition but is not affected much at all. Her speech was regressing and she was losing words. She is on 10 month old level and still terrified of everyone but immediate family. Her next EEG came up and still the same but a home video was confirmed to show seizure activity. She was put on sleep medication to help her sleep at this time but started getting sick before taking it. We started having to take her to the doctor more and more. We found out she has a smaller than normal small intestine, but it does not seem to be bothering her at this point and lactose intolerance. She cannot communicate so she couldn’t tell us what was wrong, Ady suffered from middle ear infections a lot as baby and tubes seemed to help, until they fell out. She started getting double ear infections and had another set put in, but still the infections came. After so many constant antibiotics her stomach started messing up and she started losing weight.
Adalynn is such a bright child, even with her setbacks she still manages to steal people’s hearts. We pray, hope and believe she will be the best she can be because we will not give up on her! She has paternal dup15q with the following side effects from it: global developmental delay, autism, sensory processing disorder, speech delay, speech regression, nystagmus, mild hypotonia, 2 confirmed seizures, high roof palate, facial features and anxiety. Her brain condition isn’t connected as far as I know nor was her plexus cyst or the swollen 3rd ventricle she had inside the womb. She might not be able to do things typical kids can but that doesn’t stop her from trying. She loves to dance, puppies and her momma like crazy! We cherish everything now she and her her older brother and sister do. Adalynn has taught us and many others to do so! She has made our life complete!