This year was big for my family. There were exciting times when important milestones were met such as walking and talking. Our family grew by one more when our daughter Grace was born in February. There were also hard times like when half our family was diagnosed with a rare genetic mutation. Whether it was a happy milestone or a difficult diagnosis, this past year brought life-changing memories. Here are some top moments from 2018.
Grace Marie was born in
February
Our third child Grace was born at the beginning of the year. Just like her brothers, she spent some time in the NICU after birth. She was later diagnosed with silent aspiration and got a feeding tube just like her brother Nicholas. Grace is growing really well and loves to eat. She’s actually on the growth chart!
Daniel learned to walk and talk
Daniel was born with clubbed foot, so he’s had to wear special shoes for most of his life; thus delaying his ability to walk on his own. He started walking independently just before his 2nd birthday. He’s learning how to run right now and go down stairs without holding on to anything. He also started talking more and lately his language is exploding. In therapy, we’re working on 5-word sentences and learning colors and numbers.
Autism diagnosis
After a long time wondering about Nicholas’s disabilities and delays, we finally got an answer when he was diagnosed with Autism just after his third birthday. We had a feeling he did, but it was a relief to get an answer that would open up more opportunities to give him the best life possible.
Exploring food after two years
Nicholas started touching, licking, tasting certain foods after two years of not eating anything. He has licked ice cream off a spoon multiple times and licked the juice from various fruits off his hands. A few weeks ago Nicholas bit off part of a Frito, chewed it, and swallowed.
ZNF462 genetic mutation diagnosis
In May, Nicholas and I (and later Grace) were diagnosed with a rare genetic mutation called ZNF462, something they both inherited from me. All three of us have the condition, but just different variants. I was born with a heart condition called Pulmonary Stenosis. The variant I have is obviously not as medically complicated as Nicholas and Grace. With Nicholas, he has autism, developmental delay, sensory processing disorder, silent aspiration, among other things. This is where his autism comes from. Grace also has silent aspiration and a little bit of a delay. This is something we could have never known about without doing genetic testing. Daniel does not have the gene.
Successful surgeries
Last summer Daniel had surgery on his back for tethered cord. Once his cord was released and could move freely, the doctor said she could see his cord expand by 1cm. Nicholas had a successful ear tube surgery about a month ago. We immediately saw an increase in vocalization and focus.
Walking with support
Nicholas started walking with the support of a walker earlier this year. It’s something he did a few times a week in therapy or at school. Now, he walks all the time in a walker that will hopefully be his last before being completely independent.
As I reflect on this past year, I can’t help but thank God for everything he’s blessed for my family. I hope 2019 brings even more growth and development from everyone. I hope Grace is the first one to crawl in our family. I wish to see Nicholas walk independently by his 4th birthday. And I hope Daniel will be the first to cease all therapies by the time he’s 3 years old.