Perhaps you were the victim of a medical misdiagnosis or delayed diagnosis here in Pennsylvania. While negligence may be behind many diagnostic errors, sometimes it’s the rarity of a given condition that makes an error more likely. People with rare cancers, for instance, may rarely, if ever, be referred to a specialist for their condition. If they are, they still may suffer from a lack of treatment options.

Lack of data another problem

Rare cancers rarely become the subject of clinical trials because there are so few patients to analyze. This means that doctors diagnosing a condition have only individual case reports to rely on, and these may provide inconsistent data. As for treatments, these can be lacking insofar as doctors base them on where a condition originates in the body.

Treatments based on genetic mutations

More doctors are based their treatments of rare tumors on the genetic mutations they exhibit, such as mismatch repair deficiency. This condition, where the tumor’s DNA cannot repair itself adequately after sustaining damage, can be found in well-known cancers like breast, prostate and colorectal cancer in addition to rare ones like pancreatic acinar cell carcinoma or the muscle tumor called rhabdomyosarcoma.

NTRK gene fusions are another mutation that cancers both widespread and obscure can develop. Experts are developing immunotherapy drugs that can target these mutations and thus treat the rarer types of tumors.

Patient registries can be a great benefit

Even if there were enough patients for a clinical trial of a rare disease, there are numerous eligibility standards to meet, not to mention the patients’ travel needs. Using patient registries, though, doctors can gather patients’ self-reported data with clinical information to speed up research in a particular area without the need for clinical trials.

For the victims of medical negligence

Nevertheless, diagnostic errors can frequently arise because doctors fail to live up to an objective standard of care. Under medical malpractice law, the victims of such negligence are entitled to compensation. While you focus on your physical recovery, you may want a lawyer to help file your claim and strive for a settlement.