Tuesday, April 14, 2015

#NPAW Story of Greg And Juliet Wilkerson PCT

Greg’s story, as written by his wife Juliet (caregiver)

My husband Greg is a literal mystery case. He has a laundry list of diseases that his docs at Johns Hopkins University Hospital could not figure out. We relocated to Eastern Tennessee, and he continues to be a medical mystery. Today, I will share his porphyria (PCT) journey.

Greg and I lived on the Eastern Shore of Maryland for most of our lives. For many years, Greg had been having terrible outbreaks/rashes/etc on his arms, hands, and face. We saw our PCP frequently, and she kept giving Greg cream after cream after cream using reference books as a guide. He saw a dermatologist who biopsied a lump on his neck and said it was something “hormonal.” When we asked about his hands and forearms, he just gave him yet another cream! We were dumbfounded and perplexed and completely clueless at the time!  Greg had been so sick with painful bumps and blisters, severely sunburned skin, general malaise and many other symptoms.

Greg and I have known each other since we were teenagers. I have always known him to be very sensitive to the sun. I have never known anyone to be so extremely “uber” sensitive to any stimuli to their skin. He can’t even test his blood glucose on his fingers because it literally hurts/burns for days afterward. I have seen time, and time again when he gets out of the shower, his skin, (especially his back) is just beat red and very hot. It’s the most bizarre thing I have ever seen!

In December of 2012, we moved to Eastern Tennessee and soon after, we started to line up Greg’s new medical team. I ordered Greg’s medical records, correlated them, and created a three ring binder book that I keep completely up-to-date. This way, his medical team has easy access to whatever records they may need. We also use the book ourselves as a learning tool so to speak.

The first new doc we met with was Greg’s neurologist. He examined the terrible scars newly occurring blisters/bumps on Greg’s hands and listened to the long history about his skin issues. He then sent Greg to a dermatologist who turned out to be one of our saving graces because she was finally able to tell us what was going on.

On Greg’s first visit with the dermatologist, a biopsy was done on the raised blisters on his hands. This came back as granuloma annulare, another rare and odd skin condition. Greg had another painful and horrific break out and went immediately to see Dr. Anderson. She did another biopsy at that time. This came back as porphyria. The doc immediately set him up for blood work and urnine/fecal testing, which confirmed his porphyria (PCT) diagnoses. As soon as I heard the word “porphyria” I immediately went online to research this as I do with every condition Greg has. Thank God I found the American Porphyria Foundation. What an amazing resource and incredible help they have been!  

Because Greg’s dermatologist had never seen PCT and granuloma annulare occur at the same time, she invited us to come to a small dermatology conference at a colleague’s office. They had several patients who where “unusual” cases that they wanted to review.  We were glad to go.

At the conference, Greg was examined by a variety of medical professionals, who seemed to be very interested in his “case”. When these professionals sat down at their round table discussion, they all agreed, they had never ever seen granuloma annulare and porphryia (PCT) occur together. Once again, we were heart broken and lost. Greg is a “zebra.”

We were sent to a few other specialists who could not come to a consensus as to how to treat Greg. Plaquenil was on the table; however, the dosage each of them wanted to prescribe was not concurrent with what the American Porphyria Foundation recommends. We reached out to porphyria experts that we were able to actually chat with and correspond via email. Unfortunately, traveling to see them was not an option.  Greg was not at all comfortable with taking the plaquenil either without a clear agreement as to the correct dosage. The rheumatologist we consulted with just seemed to compare treating a PCT patient like someone with lupus. We were hoping that we can get some clarity at some point about the proper amount that is safe and recommended for porphyria patients.

Or next consultation was with a hematologist/oncologist locally since we were not able to travel to meet with a physician who specialized in poyphyria.  The hematologist did not recommend a treatment plan for Greg’s porphyraia because he suffers from thrombocytopenia (low platelet count). When we mentioned plaquinel, the doc told us that we needed to go back to rheumatology.  I kept telling all the docs we consulted that something was WRONG with my husband and that they were missing something critical! Finally, the hematologist ordered a CT Scan of Greg’s lungs, and abdominal area. I think the doctor finally had an epiphany because of Greg’s low platelet count and other very uncomfortable and painful symptoms. Sadly, the CT scan indicated cirrhosis of the liver. I immediately contacted the American Liver foundation and requested as much information as they could provide to us.  We also learned that PCT and cirrhosis are linked. We felt that the he hematologist/oncologist suspected a liver issue that is perhaps caused by Greg’s Porphyria Cutanea Tarda.

Greg was then sent to a gastroenterologist who also specialized in liver disease; he was diagnosed with Non-Alcoholic Stage IV Cirrhosis of the Liver (NASH). The doc also did extensive blood work and an endoscopy/colonoscopy to confirm the diagnoses. Because Greg has thrombocytopenia (low platelet count) he at this time, can’t undergo a liver biopsy.

So we are left with so many questions.  This ‘bomb” was basically just dropped in our lap as the doc walked out the door saying to us ‘lose weight and stay off the carbs.” We researched the “liver diet” and certain types of carbohydrates are a major portion of a liver diet. 

Greg and I are exploring other options of care at this time. The GI doc did say that with diet and exercise, Greg’s life could be extended. We are just broken, and beyond devastated. Greg and I are having a very difficult time trying to process all that’s going on with him. At this time, this hour, this day, this minute, he does not need a liver transplant.

All of these blows just break our hearts. The problem is, with all of the “other” medical issues, his treatment options become more and more challenging and unclear. We believe that his PCT needs further investigation and a treatment plan. I feel like Greg has been tossed around like a hors-d’oeuvre tray at a cocktail party, time, and time again. We get no definitive answers Specialists we have seen all seem to have tunnel vision for the most part; at least in our experience.

As far as the PCT is concerned, we are very proactive. Greg must wear sunscreen when outdoors, long sleeve pants/shirts, along with UV wrap around hats that cover his face, ears, head, etc. He wears cotton gloves as well. We also try to check medications that are prescribed against those that are harmful to porphyria patients. I actually found a laundry rinse aide that you add to load of clothes called Sun-Guard by Rit that protects against UV Rays for up to 20 washings. It’s recommended by the Skin Cancer Foundation as well. We try to plan our outings more towards the evening hours when the sun is not so extreme and hot. I make sure Greg gets plenty of rest as well. I watch over him very carefully 24/7.

We have found these things to be helpful. Be your own advocate. Leave no stone unturned; read, research, exchange ideas and reach out to others who suffer from porphyria. There are several groups on Facebook with wonderful people to chat with. Never ever be afraid to ask questions. Keep copies of all of your medical records. We are still on this journey and we continue to learn new things. The more knowledge you have, the better your care will be.

"Remember....Research is the key to your cure!"

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