My son, Liam, was born healthy, but from the start I knew something wasn’t right. His ears were folded, the back of his head is flat and his face was sunken. As any parent, I didn’t want to believe anything was wrong. His blood sugar was low and he was jaundiced when he was born, but otherwise they said he was healthy. All of the newborn tests showed everything was normal.
Things progressed as expected for the first year or 2, but he was behind on his milestones. Eventually his pediatrician suggested some genetic testing to see if something was wrong. Tests for Downs and Fragile-X came back negative as well as all of the other tests. But he continued to fall even further behind. We were referred to a geneticist who suggested a full genetic panel (a $15,000 test) to make sure everything was ok. They also tested my wife and I to see if there was anything we might have passed along to him.
We sat in the geneticists office waiting for the results. She walked in and casually explained that our son has a rare genetic disorder called Kleefstra Syndrome (KS). Basically, he’s missing a small part of his 9th chromosome. According to the NIS, “Kleefstra syndrome is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features.”
We had no idea what this meant for us or how to process any of this. Basically, our son may never talk, may never progress intellectually beyond that of a child and will never be able to take care of himself. Most kids with KS live their lives in a wheelchair, not being able to even feed themselves. The life expectancy is unknown, but we have recently seen 5 children with KS pass away without reason. So, in short, we have no idea what he is capable of and no idea how long he will live.
We started with speech and occupational therapy, having somebody sent to the house to work with Liam. Eventually, when he was old enough, we sent him to school. He started in a preschool program for kids with disabilities, but he wasn’t progressing much. The class had 1 teacher and 2 aides, but as one of the other kids had severe behavioral problems, our son was left alone most of the day. The solution was to put him in a regular class with other kids his age and pull him out a couple of times a week for speech and occupational therapy.
We applied for social security and medicare along with other government assistance programs only to be told we didn’t qualify. We called local services who offered therapy for children with disabilities but none would return our phone calls once they knew his diagnosis. We were told time was of the essence so we had to do something quickly.
So we packed up and moved to TN. I was offered a job with one a hospital, working in one of the busiest emergency rooms in the country, which I thought would open doors for additional services. However, this proved not to be the case. We started private therapy, which my insurance provider agreed to pay for, but after nearly a year they changed their minds. We now receive 20-30 denial letters from insurance every month, with bills ever increasing. We went to Texas for a 3-week intensive therapy program, which made a huge difference for Liam, but again insurance gave pre-approval but eventually changed their minds and refuse to pay.
We continue therapy as long as we can, but it’s only a matter of time until they deny additional visits because of our outstanding bills. We currently have over $35,000 in unpaid insurance claims. Being a paramedic, I don’t make enough money to pay our bills as well as $35,000 for therapy.
We applied for social security but were told we would need to sell one of our vehicles to qualify. I commute to work, so 2 vehicles is essential for taking Liam to therapy. They also said if we were divorced we might qualify. My wife was going to stay home and home-school Liam, but she had to take a part-time job working from home so we can pay our bills.
Liam is otherwise healthy and a very happy boy. He is probably the most cheerful and loving kid you will ever meet. Everybody gets a smile and a hug. His love is unconditional. He loves to run and play. He’s a whiz with the iPad, teaching himself to download and play games as well as purchasing movies from Amazon by himself. He has about 5 or 6 meaningful sounds, but otherwise just babbles. He can’t feed himself as he lacks the coordination necessary to pick food up with a fork or spoon. He isn’t potty trained and insurance refuses to pay for diapers. If he were ever separated from us he would have no way to tell people who he is or who we are.
As we don’t know what Liam is capable of and have no idea how long he will be with us, we are willing to do whatever we have to to give him the best chance at life as we possibly can. God has given us this wonderful gift and we will do whatever it takes.
