When I was first pregnant with Haven, during my 12-week ultrasound the technician found that Haven had a thick nuchal fold. I then saw a high-risk OB who did extensive ultrasounds of her development, focusing heavily on her heart and found nothing. Other than the thick nuchal fold, I had an uneventful pregnancy followed by and induction with an uneventful labor and vaginal birth. Haven had a very difficult time latching causing me to pump and triple-feed her for about a month until she was able to latch. We saw a lactation doctor during this time. When Haven was about 6 weeks old her Grandma noticed that she would only turn her head to the right. Her pediatrician diagnosed her with Torticollis and she started physical therapy weekly by 12 weeks old. Her physical therapist mentioned that Haven was not making progress as quickly as they expected and still experiencing global delays and recommended a developmental pediatrician. The developmental pediatrician recommended Haven see an occupational therapist. She started occupational therapy when she was 7 months old. We were referred to a neurologist when Haven was 7 months old and they did an MRI of her brain, the results of which were normal. At 8 months, Haven diagnosed Haven with plagiocephaly and she wore a cranial helmet for 3 months. For the better part of a year we continued with therapies, pediatrician follow-ups, and neurology follow-ups. Haven made slow but steady progress so everyone seemed optimistic, but it just didn’t feel right. When Haven was 17 months old, her neurologist ordered a genetic test just for, “peace of mind” and that she, “doesn’t look syndrome-y”. Two long months after we took the test her results came back and shattered our world. Haven has denovo Isodicentric 15.
Since receiving Haven’s diagnosis we have worked really hard to focus on her strengths, her loving personality, and her ability to radiate pure joy. We created an amazing Army around Haven consisting of family, friends, therapists, and many different experts. Haven is a beautiful little girl who loves music, the outdoors, cuddling, swinging, and of course, Frozen. Haven has been such a light and blessing to our family. She has taught me how to be more understanding, adaptive, patient, and appreciative. Haven has added so much joy and meaning to my life.
I am forever grateful to be her mom.
– Erin
