Cooper was diagnosed with FARSA-related Rajab interstitial lung disease with brain calcifications type 2 — one of the rarest genetic diseases in the world. Understanding what he is facing helps explain why your support matters so much.
FARSA-related Rajab interstitial lung disease with brain calcifications type 2 (also referred to as RILD2) is an ultra-rare autosomal recessive genetic disorder caused by mutations in the FARSA gene. This gene encodes the alpha subunit of phenylalanyl-tRNA synthetase — a critical enzyme involved in the process of protein synthesis inside cells.
When both copies of the FARSA gene carry pathogenic variants, the enzyme cannot function properly. This disrupts normal cellular activity in multiple organ systems, most significantly the liver, lungs, and brain. The disease typically presents in infancy and can progress rapidly without intervention.
With fewer than 20 known cases documented worldwide, FARSA-related disease is profoundly understudied. There are currently no approved treatments or established clinical guidelines.
Organ Systems Affected
FARSA mutations impact three primary organ systems, each presenting unique and serious complications.
Interstitial lung disease causes progressive scarring and inflammation of lung tissue. This reduces the lungs' ability to transfer oxygen into the bloodstream, leading to breathing difficulties, low oxygen levels, and respiratory distress — often the first and most urgent symptom in affected infants.
Calcium deposits form in brain tissue (cerebral calcifications), which can disrupt normal neurological function. The long-term neurological impact varies between patients and is an active area of research. Early detection through imaging is critical for monitoring progression.
Liver involvement can manifest as elevated liver enzymes, jaundice, and impaired liver function. In many cases — including Cooper's — jaundice and poor weight gain are among the earliest visible signs that prompt medical evaluation, ultimately leading to the diagnosis.
FARSA-related disease follows an autosomal recessive inheritance pattern. This means a child must inherit one mutated copy of the FARSA gene from each parent to develop the disease. Parents who each carry one copy are typically unaffected carriers and may have no prior family history of the condition.
The FARSA gene is located on chromosome 19 and encodes the alpha subunit of cytoplasmic phenylalanyl-tRNA synthetase (PheRS). This enzyme is essential for charging phenylalanine onto its corresponding transfer RNA during protein synthesis — a fundamental cellular process. When this enzyme is non-functional, protein production is impaired across multiple cell types, with the most severe consequences in metabolically active tissues like the liver, lung, and brain.
If your child has received or is suspected of having a FARSA-related diagnosis, we strongly recommend consulting with a certified genetic counselor. Whole exome or genome sequencing is typically required to identify FARSA variants. Testing of parents and siblings can clarify carrier status and inform family planning.
Because FARSA-related disease is so rare, it is frequently missed or misdiagnosed in its early stages. The initial symptoms — poor weight gain, jaundice, and respiratory difficulties — overlap with many more common conditions, which can delay the path to a correct diagnosis.
Definitive diagnosis requires whole exome or whole genome sequencing to identify pathogenic variants in the FARSA gene. Imaging studies (chest CT, brain MRI) and liver function panels are used to assess organ involvement and disease severity.
There are currently no approved treatments specifically for FARSA-related disease. Management is largely supportive — addressing symptoms as they arise rather than targeting the underlying genetic cause. This may include supplemental oxygen, nutritional support, and monitoring of liver and neurological function.
Potential therapeutic avenues being explored in the broader field of aminoacyl-tRNA synthetase disorders include enzyme replacement therapy, gene therapy, and small molecule approaches. However, the extreme rarity of FARSA-related disease means dedicated research is severely limited — which is exactly why Cooper's Path exists.
With fewer than 20 known cases worldwide, FARSA-related disease will never attract large pharmaceutical investment on its own. Dedicated foundation funding is the only way to accelerate research, attract scientific attention, and ultimately develop treatments for children like Cooper.
Now that you understand what Cooper is up against, you can see why every bit of support matters — financially, emotionally, and medically. Your donation helps give him the best possible chance.