Our family was honored to be invited as special guests to the Creighton Farms Invitational Golf Tournament in August 2019. Barbara Nicklaus, the wife of golf great Jack Nicklaus spoke about the Genomics Program at Nicklaus Children’s in Miami, which is technology that truly changes lives. We know because it changed ours dramatically.
Lilly is the sixth child of seven. Since birth, Lilly has been the sweetest, happiest baby. However, over time, she remained a baby. She didn’t hit her milestones physically or developmentally. We sought help from our pediatrician and specialists, we had a couple different types of genetic testing, but it gave us no insight into what was going on in our precious little girl.
As parents, we have a pretty big job. It’s our duty to nourish, nurture, instruct, love, and care for our children as they grow. We feel deeply responsible for these little ones entrusted to our care and our greatest desire is for them to be healthy, happy, and loved. As many of you know, when your child isn’t growing and developing, you start to panic because you know that could be a sign, a symptom of a bigger problem that could adversely affect their future. You start to seek answers from experts, from doctors, counselors, other parents, google every symptom. And when you don’t find anything that matches your situation it gets really frustrating. When a genetic counselor shakes her head and calls your child a “head scratcher”, your heart drops. There are days when you feel helpless, hopeless, and believe no one is ever going to figure out what is wrong with your precious child.
Then, the next day you get up and you start again. Because as a parent, you never give up on your child. You never stop advocating and working towards finding the right answers to give them the best life you can.
That’s where Nicklaus Children’s came into our story. Through their collaboration with RADY San Diego, they were able to give us the answers we couldn’t find anywhere else via whole genome sequencing. The relief of having a diagnosis of KAT6A, of seeing that list of characteristics that read like a checklist of Lilly’s symptoms is not easily described.
Still, once the relief of having the answers wanes, there are other emotions. There’s fear, sadness, and grieving. However, the information is invaluable as it has given us new avenues to seek assistance that weren’t open to us without a diagnosis.
Because of our involvement with The Nicklaus Children’s Health Care Foundation, Lilly was featured on the cover of their 2019/2020 issue of Fore the Children. We are honored that she was chosen to represent the thousands of children that the Foundation helps.
We are also privileged to be included as a part of the KAT6A Foundation, a group that works together, shares experiences and treatments, and truly cares about each and every person effected by KAT6A. Every milestone, every accomplishment, every discovery is celebrated not just by the individual, but by the group. And that’s what makes us all family.
Written by Christy