Helping Families with Rare Genetic Disorders

Meet Landon!

Landon is an amazing 7-year-old boy living in Columbus, Ohio. He enjoys music and spending time with friends and family doing anything outdoors! Landon loves going to school in his community of Upper Arlington and The Ohio State Buckeyes! Everyone says that Landon’s smile spreads joy wherever he goes.

This sweet, smiling boy is battling a rare disease that aggressively stops all abilities and brain function over time. Landon does not walk or talk - he has never crawled or stood up on his own.

Landon inherited an extremely rare genetic disorder from both parents, caused by mutations in his TBCD gene. There is no name for such a rare disease, and no viable treatment.

Some children have less time to fight and will live only a few short years after birth.

At the time of diagnosis in 2018, doctors told us he would never walk or talk. Landon was given 2 years to live.

TBCD causes a devastating neurologic decline including major functional disabilities, such as:

• loss of communication

• cortical blindness

• requirement for tube feeding

• total incontinence

• breathing difficulty

• requirement for ventilator

• wheelchair dependence

• low muscle tone

• loss of voluntary movement

TBCD disorders can change quickly and unpredictably - often ending fatally. Most patients don't live to adulthood, and majority of children lack purposeful movement.

Our family is now on a mission to deliver the urgent medical treatment that could change Landon’s life and the lives of MANY others.

Rare Diagnosis

At 11 months old, Landon had corrective surgery followed by a full-body spica cast for hip dysplasia. Landon’s hips were routinely checked at birth and through infancy by doctors; hips coming out of socket after 9 months was abnormal but no cause for concern according to the specialists. He did not have any other symptoms or red flags at this point; Landon was a happy, healthy baby. A few months later on July 4th, 2017 - Landon had a severe seizure that prompted genetic testing leading to his ultra rare diagnosis.

The TBCD gene mutation affects ability to walk and talk. Landon is 1 of about 30 people worldwide with this diagnosis. Given so little scientific information, TBCD genetic disorders are considered ultra rare orphan diseases.

Landon’s muscles are very weak compared to typical 7-year-olds. He understands what people are saying but cannot verbally respond. Landon uses an electronic communication device to speak (ipad), and a wheelchair for mobility. He spends many hours each week in physical therapy, occupational therapy and speech therapy.

Landing on a Cure

With your help, we can fund immediate research needs for TBCD; potentially providing life-saving treatments.

It is crucial to understand the disease so we cant treat patients affected by TBCD. Our goal is to test gene therapy and drugs for TBCD patients through a clinical trial. Clinical trials cost between $2-5 million.

Doctors are currently working on TBCD through funding from patient families and research grants. We are grateful and hopeful to be working with Rarebase and The Bradbury Lab; studying 2 different TBCD-specific therapies that could improve and save lives.

We made great progress in 2022 to launch initial stages of research with Rarebase and Dr. Bradbury’s lab at Nationwide Children’s Hospital; both showing promising preliminary results for TBCD!

We are racing against the clock, determined to help all kids battling rare disorders live longer lives.