What is a delayed diagnosis?
A delayed diagnosis is when a patient has had to wait an extended period to diagnose a disease or health condition.
Some diseases are diagnosed quickly – Diabetes, for example, is a disease with many affected individuals worldwide. There is a great deal of awareness among the medical community and the general public about the causes and symptoms of diabetes. There are also several different testing options for the disease that make a fast diagnosis possible.
However, there is still so much unknown about the causes and features of genetic syndromes, that a delayed diagnosis is often the norm for rare diseases. In some cases, a diagnosis can take up to 8 years to confirm, which often includes several misdiagnoses along the way.
What is the impact of a delayed diagnosis?
A delayed diagnosis can mean many things for rare disease patients. In many cases, none of these are positive, nor do they contribute to their quality of life. The opposite is true.
A delayed diagnosis, apart from causing possible years of frustration and wasted time and resources, can mean either that a patient does not have access to the right care, support, and treatment needed for the management of their disease, or it can mean they receive the wrong information and treatment with regards to their condition.
In both scenarios, the patient is placed in a position where the symptoms associated with their syndrome or disease may worsen. In some patients, this may have serious and long-lasting health implications and may, in some cases, contribute to a shortened life expectancy.
The greater the access a rare disease patient has to information about their syndrome, and the greater the access they have to the right support, the better their quality of life can be.
How do I speed up a delayed diagnosis?
Speeding up a delayed diagnosis can be difficult, especially if a patient’s symptoms suggest an extremely rare disease diagnosis. While research and funding into rare diseases are increasing across the US and the European Union, there is still a big gap in patients’ access to timely and accurate diagnostic tools.
For many patients, the obstacles include a lack of specialists in their area and the inability to travel to the necessary specialists. Cost is also sometimes an issue, as is a lack of genetic counselors and geneticists (leading to long waiting times for an appointment) to help diagnose a patient.
Increasing accessibility to genetic analysis and genetic services to patients is essential in speeding up a delayed diagnosis. This is being achieved through advancements in health platforms that utilize AI technology and facial screening software to provide patients with a genetic analysis that can speed up their diagnostic journey.
Combining this genetic analysis with its network of genetic counselors and geneticists, for genetic counseling and genetic testing services, is one way that FDNA is committed to speeding up the diagnostic journey of rare disease patients the world over.
Booking a session with a genetic counselor will be incredibly beneficial in tackling certain symptoms that may arise. You will be able to have a one-to-one session with a professional in the field that will help in detecting any potential syndromes including Williams syndrome and others. Making a delayed diagnosis a thing of the past.
We also recommend using the Child Development Checker app to assess developmental delays and genetic concerns. With its “Connect to Expert” feature, you can access personalized support from genetic professionals, ensuring your child receives optimal care. Start using the app today for valuable insights and expert guidance.
