Reasons for a Delayed Diagnosis
There can be hurdles in getting a diagnosis.
Here is a collection the support goup is acquainted with.
People with Carney Complex have shared their Diagnosis Odysseys here.
Not being freckly enough.
Not showing the ‘spoty skin’ pigmentation is not an exclusion criterion! While it is one of the major criterion in the diagnostic criteria you should know that the pigmentation/ freckling in CNC and its intensity can vary alot from person to person and over time can fade – even within families sharing the same pathogenic mutation. There are approximately 20-30% that do not have any freckling (Read here how a diagnosis was delayed). Don’t let the absence of freckling deter you from seeing if other diagnostic criteria are being met.
In one family the mom had the ‘spoty skin’ pigmentation as described and depicted, the daughter differed in that it was not as intense and the son only started getting some of the freckling and lentigiens around his eyes at age 25.
Writing parents off, thinking it could be Munchausen by Proxy or that they are hypocondriacs (even to the extent of telling them they are bad parents)
This is a very difficult subject, which is why illustrating both sides is important.
On the doctor’s side
Ensuring the patient gets the care they need while also being able to justify further testing and examinations to the health insurance or local health care system, is a delicate balance. It’s important to point out that medical professionals might come to a certain conclusion if they think they have tried everything in their power and could not figure out what the underlying cause is. Seemingly being at their wits end. There is expectation for them to have the ‘answers’.
On the parent’s side
What needs highlighting is the fact that parents are genuinely concerned for their child. Parents know when something seems off and should not be written off. They hold valuable knowledge and information, and should be believed when they share their continued concerns for their child.
A huge concern for CNC patients (young and old) and their families is the question ‘Where do we go from here?’ once a doctor says ‘This is all I can do’. It can feel like losing your footing all over again after just finding a relatively stable stepping stone.
Patient-Doctor Relationship
It’s okay to admit that something is beyond ones abilities. Hard as it may be to hear on the patient side, it is important that it be said. Part of having a good doctor-patient relationship is that there is allowance for this to be discussed. While a doctor might have to admit something is beyond their expertise and/or abilities, this does not mean that they can’t try to help find someone else. Refering the patient and the family to a new and experienced doctor could open up an opportunity to have the issue looked at from a new and different perspective. Staying in touch with the former doctor/ patient and their family during transition is an important element of support.
Mutual respect, empathy and networking are key.
Not having enough symptoms.
Allthough there are cases of Carney Complex that can occur spontaniously the majority have inherited it from a parent.
CNC symptoms are different for everyone – even amongst the same family – and there is no set timeline for symptoms to occur. It is really important to also have a look at the family medical history for patients awaiting diagnosis. Often the diagnosis was delayed because they did not show enough symptoms at the time and the dots weren‘t connected between family members.
Testing negative for Carney Complex.
There is no such test. A patient can be tested for a genetic mutation on PRKAR1A Gene.
People that test negative for a mutation on the PRKAR1A Gene can still get the clinical diagnosis using the diagnostic criteria. They are suspected to have other genetic variants that have not yet been identified.