David’s Rare Genetic Condition

Hello everyone, thank you for taking the time to read my nephews story, told by his mom on how we learned of his rare genetic condition.

Earlier this year after a normal doctor visit we were referred to Orthopedics at the Children’s Hospital. We left the Ortho with a referral to a Neurologist for suspected Cerebral Palsy- our Neurologist then confirmed Spastic Left Hemiplegia. April 13th of this year David was 2.5 years old had his first MRI- there was significant damage to the brain. Davids neurologist had a few suspicions of what the diagnosis could be but not certain so he referred us to specialists in the field of Genetics & Metabolics. David gave blood, my husband & myself were swabbed. Our test were sent out to a Lab in California for Gene testing. In May Davids report came back with multiple gene mutations- doctors were able to do away with most of them because they do not cause disease. However, there was a gene mutation in the SNORD118 gene that has been linked to other people (kids mostly) presenting the same way David does. For a few weeks all of David’s doctors come together to try and figure out his diagnosis. August 16th we were called by the genetics team and they finally have a diagnosis for us and it is… Leukoencephalopathy, Calcifications and Cyst (LCC) also know as Labrune Syndrome- it’s a type of Leukodystrophy . This condition is so RARE there are only about 100 people world wide who have it. We’ve learned so much information on this condition but in short it basically is causing his brain to deteriorate on its own. There is no cure or anything else they can do for him.

This day was hard as we had to hear that our son’s condition is considered degenerative, meaning his condition will continue to progress with time.

With this condition being so rare there are only 2 doctors in the world researching it- one in the Washington D.C area and the other out in the UK. They are trying to come up with a cure and/or find a way to stop the brains deteriorating progression. I had an MRI done when I was pregnant with him so we have the earliest known images of a patient with his condition so they’d like to study him in person. So we are working closely with the Doctor and her research team out in Washington.

Your donations would be used for travel and stay expenses. If you can donate to help them get to Washington & see the research team we’d be forever grateful. If not- no worries. I ask that you please keep David in your prayers.