Landon’s Kleefstra Syndrome Life

The story of Landon

After a complicating pregnancy with no answers found, Landon was born at 37 weeks. Despite my concerns at birth and the days immediately following, whilst still in the hospital, I was reassured that Landon was doing just fine. There was always a good reason provided for all of my concerns. We were discharged home when he was 3 days old. I knew in my heart that something wasn’t quite right, but what can you do when the healthcare professionals disagree? So, months passed and milestones were missed. Many of my concerns were dismissed, until it was undeniable that something was wrong. Test after test led to no answers. Every test continued to come back with normal results, until finally when he was nearly 1 years old we did a microarray of his chromosomes. We got the results 3 days after his 1st birthday and our world as we knew it will be forever changed. The diagnosis read that our perfectly imperfect boy has a rare condition called Kleefstra Syndrome. Landon’s specific diagnosis is due to a deletion of the EHMT1 gene, though the diagnosis can also be caused by a mutation of the gene. Kleefstra Syndrome symptoms are many, but some of the common charactaristics are intellectual disability, hypotonia, speech delay, sleep problems, neurological conditions and many other problems within the organs of the body.

At this time, we know that Landon suffers from severe hypotonia, speech delay, swallowing problems, and recurrent respiratory infections. He also has many autistic like behaviors and sensory processing problems. He is still undergoing many tests and procedures to diagnosis and/or rule out other associated issues.

Despite all of this, Landon is a light. He is funny, loving, kind and well mannered. He loves water, his pets and his big brother. We know that Landon is going to go far, despite his condition. His will and determination are second to none!