Life with Kleefstra Syndrome
Donation protected
Hello. My name is Liam and I have Kleefstra Syndrome. I am nearly 6 years old and I just moved from Texas to Tennessee with my mommy and daddy. I am way behind other kids my age and I can't talk or take care of myself. I am able to learn new things, but everything takes a lot longer for me. We don't know what the future holds for me, but I know I am well loved.
We were not able to find me the help I need in Texas, so we moved to TN. My daddy started working for Vanderbilt University Medical Center as a paramedic and my mommy will be staying home with me to help with my therapy. I get to spend more time with my daddy, but we struggle more. We will need to see a lot of specialists and make a lot of trips to other states to find them.
My daddy was a fire fighter and paramedic in Texas with 2 fire departments. My mommy was an office manager and cleans houses after work. They both work very hard and very long hours to give me everything I need.
I was born happy and healthy, but I’m behind on all of my milestones. Until recently we didn’t know why. After a lot of expensive tests the doctors say I have a very rare genetic disorder called Kleefstra Syndrome (KS). I am one of about 500 people diagnosed with KS in the entire world. I have a tiny piece of missing information near the end of one of my chromosomes which causes a lot of health problems. All kids with KS have learning delays and moderate to severe intellectual disabilities. I can’t talk and with KS I might never be able to talk. It will always be harder for me to learn than other kids. I will never be able to live on my own or be able to take care of myself. My family will always have to take care of me. Many kids with KS don't live past their teenage years. Most have low muscle tone, heart and kidney disorders as well as Autistic-like features. Other things I might have later in my life include seizures and structural brain abnormalities, sleep and behavioral difficulties and recurrent respiratory infections. I may learn now but could regress when I reach puberty. My kidney scans were normal and my heart has a hole in it but my heart doctor is positive that it could fix itself, This year we had another scan and it appears to be smaller so that was good news and the doctor says I am physically healthy as far as they can tell. While I may be a year or more behind, I still learn, but I learn at my pace. I am a very happy and loving little boy. I love to smile and give everybody great big hugs. I love to run and play with my toys, but I have trouble telling people what I need and want. I don't know how to play with other kids because I don’t know how to respond to social cues. With a lot of occupational and speech therapy I might learn to speak and play, but nothing is guaranteed. No matter what happens I know I will always be loved. Medical insurance has covered a lot, but we have a high deductible and out of pocket limit, so we have some pretty big bills to pay. The test to give me my diagnosis was $28,000 and insurance won’t cover any of it. Most important of all, Insurance will only let me have 12 speech therapy sessions a year. The doctors say it is important for me to learn as much as I can before I get older, so I will need a lot of therapy sessions. But therapy sessions are expensive. We found a speech therapist in Tennessee that is really good but have had a lot of issues finding someone in our state to help us.. Our local Early Childhood Intervention service is in disarray, so we have been given very little help. I started PPCD (preschool program for children with disabilities). I’m learning and I lovey teachers but I’m not learning to talk much still. We are new to the world of Kleefstra Syndrome, so we are still trying to figure out what it all means for us. We greatly appreciate all of your support. My mom and dad want to make sure I get all the help I need as soon as possible, but we also want to tell people about this very rare condition and help support research which might one day lead to treatment or maybe even a cure. Thank you all for your support. Liam, Chris and Michelle McDonald. For more information about Kleefstra Syndrome, please visit the links below. rarechromo.org kleefstrasyndrome.org findresources.co.uk September 17th is Kleefstra awareness day.
We were not able to find me the help I need in Texas, so we moved to TN. My daddy started working for Vanderbilt University Medical Center as a paramedic and my mommy will be staying home with me to help with my therapy. I get to spend more time with my daddy, but we struggle more. We will need to see a lot of specialists and make a lot of trips to other states to find them.
My daddy was a fire fighter and paramedic in Texas with 2 fire departments. My mommy was an office manager and cleans houses after work. They both work very hard and very long hours to give me everything I need.
I was born happy and healthy, but I’m behind on all of my milestones. Until recently we didn’t know why. After a lot of expensive tests the doctors say I have a very rare genetic disorder called Kleefstra Syndrome (KS). I am one of about 500 people diagnosed with KS in the entire world. I have a tiny piece of missing information near the end of one of my chromosomes which causes a lot of health problems. All kids with KS have learning delays and moderate to severe intellectual disabilities. I can’t talk and with KS I might never be able to talk. It will always be harder for me to learn than other kids. I will never be able to live on my own or be able to take care of myself. My family will always have to take care of me. Many kids with KS don't live past their teenage years. Most have low muscle tone, heart and kidney disorders as well as Autistic-like features. Other things I might have later in my life include seizures and structural brain abnormalities, sleep and behavioral difficulties and recurrent respiratory infections. I may learn now but could regress when I reach puberty. My kidney scans were normal and my heart has a hole in it but my heart doctor is positive that it could fix itself, This year we had another scan and it appears to be smaller so that was good news and the doctor says I am physically healthy as far as they can tell. While I may be a year or more behind, I still learn, but I learn at my pace. I am a very happy and loving little boy. I love to smile and give everybody great big hugs. I love to run and play with my toys, but I have trouble telling people what I need and want. I don't know how to play with other kids because I don’t know how to respond to social cues. With a lot of occupational and speech therapy I might learn to speak and play, but nothing is guaranteed. No matter what happens I know I will always be loved. Medical insurance has covered a lot, but we have a high deductible and out of pocket limit, so we have some pretty big bills to pay. The test to give me my diagnosis was $28,000 and insurance won’t cover any of it. Most important of all, Insurance will only let me have 12 speech therapy sessions a year. The doctors say it is important for me to learn as much as I can before I get older, so I will need a lot of therapy sessions. But therapy sessions are expensive. We found a speech therapist in Tennessee that is really good but have had a lot of issues finding someone in our state to help us.. Our local Early Childhood Intervention service is in disarray, so we have been given very little help. I started PPCD (preschool program for children with disabilities). I’m learning and I lovey teachers but I’m not learning to talk much still. We are new to the world of Kleefstra Syndrome, so we are still trying to figure out what it all means for us. We greatly appreciate all of your support. My mom and dad want to make sure I get all the help I need as soon as possible, but we also want to tell people about this very rare condition and help support research which might one day lead to treatment or maybe even a cure. Thank you all for your support. Liam, Chris and Michelle McDonald. For more information about Kleefstra Syndrome, please visit the links below. rarechromo.org kleefstrasyndrome.org findresources.co.uk September 17th is Kleefstra awareness day.
Organiser
Chris McDonald
Organiser
Marble Falls, TX
