Story submitted - 2020
Harvey was born full term at 39 weeks after a healthy pregnancy with healthy ultrasounds. He was very small at 5lbs 1oz and 17” long. When we first saw Harvey we were instantly in love, but knew there was something different about him. He is the youngest of 6 and looked nothing like my other babies as well as the fact he was so small and my others were all on the bigger side. Harvey had 1 undescended testicle, bilateral inguinal hernias and an umbilical hernia. He also didn’t pass his hearing test. He was otherwise a healthy baby though. The pediatrician agreed that something didn’t quite look right with Harvey and wanted to send us to a geneticist.
Harvey was born full term at 39 weeks after a healthy pregnancy with healthy ultrasounds. He was very small at 5lbs 1oz and 17” long. When we first saw Harvey we were instantly in love, but knew there was something different about him. He is the youngest of 6 and looked nothing like my other babies as well as the fact he was so small and my others were all on the bigger side. Harvey had 1 undescended testicle, bilateral inguinal hernias and an umbilical hernia. He also didn’t pass his hearing test. He was otherwise a healthy baby though. The pediatrician agreed that something didn’t quite look right with Harvey and wanted to send us to a geneticist.
After meeting with the geneticist over a few months and doing some blood testing Harvey received the diagnosis of Nicolaides-Baraitser Syndrome at about 7 months old.
During these months we were also referred to a dietitian as Harvey wasn't gaining weight like he needed to. He breastfed well but would not drink from a bottle. When he was old enough to start baby food he did not do well with that either. He was diagnosed with failure to thrive and at about 8 months he had surgery to place a G-tube, as well as fix the hernias and insert ear tubes. The G-tube was so helpful as we now could know that he was getting all of his calorie needs and we continued to breastfeed as well. This helped Harvey to gain the weight he needed. Although he stayed very small he was on his own curve and doing well.
During these months we were also referred to a dietitian as Harvey wasn't gaining weight like he needed to. He breastfed well but would not drink from a bottle. When he was old enough to start baby food he did not do well with that either. He was diagnosed with failure to thrive and at about 8 months he had surgery to place a G-tube, as well as fix the hernias and insert ear tubes. The G-tube was so helpful as we now could know that he was getting all of his calorie needs and we continued to breastfeed as well. This helped Harvey to gain the weight he needed. Although he stayed very small he was on his own curve and doing well.
At almost 1 year old Harvey had his first seizure. Although we knew this was common for the syndrome it was still very scary for us when they began. He spent a few days in the hospital running tests and EEGs and starting medication. They started him on Keppra and sent us home. After a few more episodes of seizures and hospital visits we also started Topamax. He has done well on both the Keppra and Topamax and his seizures have been controlled for over a year.
Physically Harvey is very delayed. Currently he is 2 1⁄2 and he is rolling and just starting to scoot. He does not sit. His muscle tone is low and to make up for it he gets stiff and arches his back a lot. He has a walker and a jumper and loves them. We do physical therapy about once a week. I believe he will crawl and walk but it will take some time. He also visits an audiologist because he has some mild hearing loss. We do have a hearing aid device but he doesn't enjoy wearing it. We will continue to explore are options with this as well.
Overall we feel extremely blessed to have Harvey! He is so happy all the time! His smile is contagious and all those who see him are drawn to him. We have quite the adventure ahead of us!
Overall we feel extremely blessed to have Harvey! He is so happy all the time! His smile is contagious and all those who see him are drawn to him. We have quite the adventure ahead of us!
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