Hello, fellow Dr. Zebra!
We have all been there.
Another doctor appointment. Another puzzled look.
It is time for the explanation to end all explanations. Take a deep breath and go!
“So, she has persistent fetal vasculature and micropthalmia. She was diagnosed at 6 days old. Her right eye is smaller than normal — a lot smaller than normal. Also, the stalk never regressed in utero, so she has no vision in her right eye. Also, she rocks a prosthetic eye and glasses. No surgeries, and there is no cure. She has limited or no depth perception. In addition, she also has hypotonia and uses a walker to get around. We are also in all the therapies: physical, occupational, vision and speech.”
We could all go through our explanation in our sleep forward and backwards. Am I right?
We are all knowing for everything that is known regarding our condition.
So, why don’t we have an honorary medical degree? Truthfully, we should and here is why:
1. We know as much if not more than many doctors about our rare disease.
From the moment of diagnosis, we start the process of becoming a walking encyclopedia on our rare disease, whether it is DYRK1A, Three M syndrome or any other rare disease.
2. Medical terminology is our second language.
When dealing with a rare disease, many of the articles online are all in medical terminology. So, we adapt and learn to decipher the massive articles. This takes the longest, but it helps.
3. We deal with insurance more than most doctors offices.
When I say “deal,” what I really mean is fight: send appeals and pre-authorizations and constant phone calls. Getting the right or correct coverage is not easy. So, we really advocate for the treatment we need. Our insurance companies know our names, phone numbers and email addresses.
4. We know what can bring more harm or do more good. This knowledge can save our life… literally.
If you are in an emergency situation, this literally can be critical. ER doctors and nurses may only have a minuscule amount of knowledge on your rare disease. There are medicines that are detrimental to our health, or those that won’t work on us. That CT scan isn’t possible either… we know all the ins and outs.
5. We are fierce advocates for medical research.
Rare disease research is hit or miss depending on the diagnosis. In many cases, families are taking to social media to compare symptoms and treatments. Medical studies and research would be able to provide this on a larger scale. So, we take to the web and find universities that are studying the field we need. We email. We call. Whatever it takes to encourage research.
All joking aside, we have an amazing amount of knowledge. While we will never get an honorary medical degree, we essentially are medical experts on our conditions. We educate those around us and find our community online.
We are amazing.
We are a force to be reckoned with.
We will correct you, even if you are a doctor, when it comes to our rare disease.
Follow this journey on Kentuckiana Momma.