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About TBCD

What is TBCD Disorder?

TBCD disorder is a rare genetic leukodystrophy caused by a recessive mutation on both alleles of the TBCD gene. While symptoms exist on a spectrum, it is often progressive with an average lifespan of about 4-5 years. 

Raising awareness about one of the rarest genetic neurological conditions in the world

TBCD disorder (also sometimes referred to as PEBAT), is a severe and often progressive genetic neurological condition. Most children lose all purposeful movement by age four, and the majority do not see their fifth birthday. It is extremely rare, with fewer than 50 identified patients in the world. It is a recessive condition, meaning that both parents must be carriers to have an affected child. 

There is currently no treatment or cure, although we are aggressively pursuing multiple avenues. 

Early symptoms of TBCD disorder include:

  • Hypotonia
  • Difficulty swallowing
  • Missed developmental milestones
  • Global developmental delays
  • Seizures

MRI will typically show a thinned corpus callosum and a lack of myelination in the brain.

If you suspect that your child has TBCD disorder, push for diagnosis via a full exome sequencing. A standard microarray will not find a TBCD mutation.

What Can We Do?

We believe that there are no incurable illnesses;

there are only illnesses that haven't been cured yet.

Raise Awareness

Raise Awareness

More awareness means better care for existing patients, more children with TBCD being correctly diagnosed, and more support for the families of children with TBCD disorder. 

Fund Research

Fund Research

TBCD disorder is known as an "orphan disease" - a disease so rare that pharmaceutical companies aren't interested in attempting to cure it. With a very small patient population, fundraising is our only option to finance the heavy cost of gene therapy and drug repurposing research.

Share Knowledge

Share Knowledge

With a disease like TBCD disorder, time is on no one's side. That's why it is essential for families in the TBCD disorder community to share research, resources, and opportunities quickly and effectively. Keeping an open line of communication amongst ourselves and the medical professionals we've worked with will save lives.