Dayle's interview
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How did all start?
Discovered sensitivity to fluoroquinolones after being incorrectly prescribed Cirpro for a basic UTI in 2015. Oct 2016 I was hospitalized for a seizure brought on by severe hyponatremia that nearly resulted in death. Afterwards, I experienced cyclical spells of non-specific abdominal pain, nausea, depression, and fatigue every month along with abnormal liver values for bi-weekly blood tests. My PCP assured me I was fine. I was hospitalized again in July 2017 for severe constipation and mild hyponatremia. I had all diagnostics run on my thyroid, liver, CT scan, abdominal x-rays, ultrasounds, colonoscopy, etc. and no sure cause was found. My PCP finally referred me to a GI doc and a hematologist. I researched "blood conditions" myself and found out about porphyria. I asked my GI doc to run specific tests and preliminary tests showed potential. Corroborating with my hematologist, we did several more tests and I now have the diagnosis of an acute porphyria with a prognosis of AIP.
Do you already have a diagnosis? How long did it take you to get it?
I am awaiting specific diagnosis as my specialist doctors do not feel comfortable rendering diagnosis for the specific type of porphyria I may have.
For what medical specialties have you been treated? What has been the most useful specialty for your?
Hematology and GI. Both have been extremely helpful.
What has been the most useful thing for you so far?
A doctor who listens. Both my GI doc and hematologist have been skeptical, but have followed through with my requests and listen to me when I show them medical research regarding porphyria. The American Porphyria Foundation website has priceless resources for helping one figure out the steps to take for diagnosis.
What have been your biggest difficulties?
Offices keeping appointments. I have had no less than 5 appointments canceled on me because of misunderstanding about the condition. Either new doctors are skeptical, or don't take it seriously so they do not schedule enough time for such a rare case. Also, incorrect labs being run or samples being tainted. Porphyria tests are very specific but rare and on top of that, they are light sensitive so labs sometimes do not handle the samples properly.
How has your social and family environment reacted? Have your social or family relationships changed?
My family has been supportive, as have my friends. I find myself getting tired more easily, but I figure if I need to cancel something then I just should since it would be more of a bummer to exhaust myself and trigger an attack.
What things have you stopped doing?
I can't drink alcohol anymore but I wasn't a big drinker anyway so it wasn't a huge hardship.
What do you think about the future?
I think it's good! I seem to be able to manage my symptoms with diet! I only worry if one day I can't.
So far, which years have been the best years in your life? What have you done during them?
All years have been the best years!
What would you like to do if you didn’t have your condition?
There really isn't much I can't do because of my condition. I like to not get exhausted as easily or be in fear of an attack, but all I can do is prepare, so I do.
If you had to describe your life in a sentence, what would it be?
Carb-e diem!
Finally, what advice would you give to a person in a similar situation?
Advocate for yourself and research! Doctors don't expect a rare disease like this, so arm yourself with all the knowledge you can! Print out relevant research and all of your lab tests and bring it in a binder with you to every appointment. Check out the American Porphyria Foundation website for steps to take to obtain diagnosis. It's truly the best tool you can use.
