Hello. My name is Liam. I’m 8 years old and I was born with Kleefstra Syndrome (KS). KS is a rare genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features. The syndrome is caused by either a mutation or deletion of a gene called EHMT1. I have a frameshift mutation. KS presents with a wide range of symptoms, and the severity of those symptoms vary from mild to severe. I am one of less than 300 known to have Kleefstra Syndrome in the US and less than 500 in the world. 

What does this mean for me? I have trouble doing what most kids my age do. I may never be able to speak or take care of myself. I will rely on my family to take care of me for the rest of my life. Speech, physical and occupational therapy have helped, but I have a long road ahead of me.   

I moved to Dickson from Texas about 4 years ago with my mommy and daddy. My daddy is a firefighter with The Dickson Fire Department. I was not getting much help in Texas, so we were told to move to Boston or Nashville. Boston Children’s hospital is home to the Kleefstra Clinic, but we decided to move closer to Vanderbilt Children’s hospital as we didn’t like the sound of Boston weather. We are hoping Vandy will be the location of the next Kleefstra Clinic. 

I have speech therapy every week for my apraxia and now have about 15 or 20 meaningful sounds.  Occupational therapy has taught me to undress and partly dress myself as well as feed myself, even though I would rather mommy and daddy dress and feed me. I also learned to write my name and MOM this year. I am learning expressive sign language and speech at school as well. Physical therapy has helped me with balance and coordination as well as building strength. A lot of KS kids are wheelchair bound, but I can walk and I love to run and jump. I also have music therapy and adaptive horse therapy, where I learn to take care of and ride a horse. 

While I may be behind, I am still learning. I learn at my pace. I’m told for the most part I am healthy and I am very happy. When I had my tonsils and adenoids removed and tubes put in my ears they told me I have severe Sleep Apnea. They also found that I have a Type I Laryngeal Cleft that causes me to aspirate and have infections in my chest, for which I will need surgery to repair. I have activity in my right frontal lobe that is common in seizures. I have a PFO in my heart and a murmur. My kidneys have both been checked and appear to be normal. I have a very high pain tolerance and don’t always let you know when I am hurt, which is common in KS. I also have a hard time regulating my body temperature. I have started sweating a little as I have gotten older but not like other kids. I am lucky I don’t take a lot of medication like most KS kids. The biggest problem I face is the chance of regression when I get older. Most KS kids learn until they are teenagers but regress afterward, forgetting things they have learned to do. 

There is a girl with Kleefstra Syndrome who graduated high school and recently college with a Bachelor of Science degree, so there is hope for me yet. Research is being done to identify possible treatments for KS, including medications and gene therapy. While a treatment or even a cure is probably a long way off, we remain hopeful. 

You can find out more about me or Kleefstra Syndrome on my website at www.runwithliam.org. 

Also, my mommy makes t-shirts to raise money for my therapy and treatments. Please consider purchasing t-shirts to help me get the help I need. Shirts can be purchased from www.runwithliamcreations.com.