by Michelle Stevens
Avery was born 12/31/10 at 36 weeks. I had a normal, uneventful pregnancy. The night before New year’s eve, I had premature rupture of membranes and was admitted into the hospital to have our precious baby girl. However, nothing happened…with no progression they attempted to induce labor and kept pumping me with medication. I was having contractions off the chart with no progress at all. After 22 hours, I had a scan done and Avery was not even in the birth canal. I was rushed into an emergency cesarean section. I was ready! Scared, but at that point just ready to hold my baby. Little did I know, that holding her for the first time would be on hold for a few days, when she was off feeding tubes, oxygen, and the vent. She did have to have the umbilical cord taken from around her neck and she was in respiratory distress. She spent her first week in the NICU. Once home,we settled in and got comfortable and at 2 weeks old she became sick and was again admitted, this time for the flu. After a couple days some routine test were done and the doctor came in and told me she had a UTI along with the flu, that this was worrisome and they didn’t have the needed equipment to investigate the reason for her infection. She was in an ambulance within an hour headed to Mississippi’s Children’s Hospital.
Avery was diagnosed with vesicouretal urinary reflux. Her urine was flowing the wrong way, toward her kidneys. Fast-foward to her next scan it had spread from refluxing into one kidney to both. She got antibiotics once daily to prevent infection. Before her first birthday, her next scan was clear. It had resolved itself with growth. Around the same time her challenges included a diagnoses of torticollis at 7 months and developmental delay. She began physical therapy until it resolved around the time she began walking at 17 months.
To this day out of habit she still tilts her head. At age 2, things were smooth, she was a happy baby girl, though very socially reserved. Between two and five she would only let certain family have anything to do with her. By age 3 her pediatrician saw "red flags" we went for an evaluation and were told no autism. She did however, see a hand tremor and noted the developmental delay. Due to the tremor we were sent to neurology. Around the same time-frame Avery began speech difficulties that mimicked seizure activity or apraxia…eye rolling, screaming, clenching her fist and awful stuttering and blocking.
She cleared her EEG and MRI and by age 4 all those strange speech related issues vanished into simple childhood stuttering.. At that point we backed away from everything she was put back into PT for her delays that she resumes still today at age six. We have since had two more evals and one saw the "red flags" the other said no. Behavior became an issue at age 4 and we go to behavior therapy periodically. Up to this point she has become way more social, she has begun occupational therapy to coincide with her physical therapy and she is making progress by leaps and bounds. We have had no seizures. It was her behavior issues and "weak hips/legs" diagnoses from the pediatric development eval that lead us right back to neurology just this past summer. There we did labs and a nerve conduction study ( which was normal) however, blood work not so much.
Age 5 we were informed of dup15q syndrome. Avery has Interstitial dup15q11.2-13.1. Our Genetic counselor knows so little of it that he gave me false peace of mind. I am so thankful that I called the Dup15q Alliance and to be honest this group has been my lifeline the past few months. Avery has got this and I will walk every step of the way with her!