02/06/2023
We've got an update from Kaycen's mom on his official diagnosis:
Last year 2021, my now 7 year old son started wearing glasses. Over the course of a few months his prescription for glasses kept getting stronger and stronger. Towards the end of the school year he was wearing bifocals and very high prescription strength glasses. The eye doctor couldn’t explain why his eyes kept getting worse. Over the course of the summer his eyesight took a drastic turn. By the end of the summer he was legally blind. His eye doctor referred us to a retinal specialist in Rexburg, ID. The eye doctor was able to see what the problem was but was unable to give us any explanation as to why it happened, what caused it, or properly name it. At that point he referred us to a Retinal Specialist in Utah and gave us the final legally blind declaration.
When we went to Moran Eye Center, my son went through a bunch of testing to try and figure out what was causing his eyesight to fail. One of the testing they did was a Genetic Disease Test. They wanted to wait for that test to come in and rule out any genetic disease before giving us a diagnosis of Stargardt or Cones & Rods. We were told that if anything started or if his eyesight got worse to come back and we were sent on our way to wait 6 weeks for the genetic test results to come back.
In the meantime, we were still going to the retinal specialist and his eye doctor. As well as his normal family doctor.
On October 6th I got a phone call from the Genetic Counselor while I was at work. I vaguely remember what happened during that call. To this day I can't recall how I got home that day. My son has a genetic disease called Batten Disease CLN3.
Batten Disease, also known as Neuronal Ceroid Lipofuscinoses (NCLs), is an inherited metabolic disorder. It is passed down through families and it results from a genetic mutation. Batten affects the cells ability to break down and get rid of cellular waste. The body can’t dispose of proteins, sugars, and lipids (fats), so they build up. This buildup causes problems with the nervous system that eventually leads to death.
After 4-6 years of normal development, children with this condition develop vision impairments, intellectual disability, movement problems, speech difficulties, and seizures, which worsen over time. Problems with vision often begin between the ages of 4 and 8 years of age. Vision impairment is caused by the breakdown of the light-sensitive tissue at the back of the eye (retinal degeneration), which worsens with age. Children around 4-8 years of age also start to fall behind in school. They have difficulty learning new information and lose previously acquired skills (developmental regression), usually beginning with loss of the ability to speak in complete sentences.
Seizures and movement abnormalities often develop in adolescence. These abnormalities include muscle rigidity or stiffness, clumsiness, slow or diminished movements and stooped posture. Over time, they lose the ability to walk or sit independently and require wheelchair assistance.
The main types of Batten Disease is commonly divided into five main categories: Congenital, Infantile, Late Infantile, Juvenile, and Adult. All of these types are caused by 14 different genes, known as CLN1 through CLN14.
