Anonymous

Kernicterus is a condition that results from severely high bilirubin levels in newborn babies. Completely preventable, kernicterus is devastating for the way that it wreaks havoc on small children.  In essence, excessively high bilirubin levels cross the blood brain barrier causing permanent brain damage. The resulting condition, Kernicterus Spectrum Disorder can leave children physically disabled with cerebral palsy, auditory neuropathy spectrum disorder – and a number of other global developmental issues.

As though the devastation of a newborn baby having brain damage because of a problem with severe jaundice isn’t bad enough, kernicterus is so rare that very few providers really understand it. Why would they?  After all, this is a rare condition that is caused by mismanaged jaundice and levels that cause permanent brain damage happen very rarely.

Because of the intricacies of kernicterus and other rare diseases, it becomes particularly important for the patient or caregiver to really make sure that those who will be directly working with the patient have a good, working knowledge of whatever the illness or condition is. Without doing this, the patient may not get all of the resources they need because the providers they have do not have a solid understanding of the condition or disease. 

In essence, caregivers and/or patients should do their homework and interview practitioners before they start working with them.

Researching the Condition

When dealing with any rare disease or condition, patients and caregivers should do their due diligence to really understand the disease or condition. It becomes particularly important for them to review medical journal articles and what has been published on the subject. Articles found on Google that are general flyers about the disease or condition certainly highlight the main points about the condition, but don’t help to educate the patient or caregiver on the various mechanisms of the disease.

Additionally, caregivers and patients should also be keenly aware of the patient’s medical case.

They should be able to not only answer questions about the disease, but about the individual they are caring for. This means that they should have the patient’s medical chart accessible, and they should also make sure they have read the latest published scholarly medical journal articles on the subject so they are well versed in it. Without doing so, they will simply not know if the interview they conducted with the practitioners told them what they should know.

Interviewing Practitioners

When an individual is a caregiver of a patient who suffers from a rare disease, the caregiver must really do their due diligence to make sure that those who will be caring for the patient really know what they’re dealing with. 

In essence, they need to caregivers and patients should ask questions like:

• “What is your experience with this disease?” 
• “What kinds of treatment methods have you recommended with such a disease?”  
• “What is your understanding of this disease and how it works?”

Caregivers should also explain: “I am aware this is a rare condition, so I need a provider that really understands this.”  Explaining something like this helps the provider to also understand the needs of the caregiver.

In essence,  the caregiver should feel comfortable with the individual and their answers.They should come away from the interview feeling like they have a good understanding of the medical practitioner’s experience with the disease or condition so they can make an informed decision on whether to move forward with that medical provider.

In conclusion, it is important that caregivers and patients carefully interview those that will be caring for patients with rare diseases. Rare diseases are challenging enough – therefore, they need medical providers that have a good working knowledge of the disease or condition.