Journal entry by Laura Benson — Apr 10, 2018
We brought Colin to Mayo Clinic (Rochester, MN) in both February 2018 and again for a return visit in March-April 2018. We requested a second opinion and an evaluation and comparison findings from NIH (National Institutes of Health) and Walter Reed National Military Medical Center.
The first visit (Feb. 19) brought many questions and interesting information to light, but no answers. We left hopeful that we would be able to return and continue on with a possible cure or treatment plan in sight. Our flight to and from Mayo Clinic was very challenging. Moving Colin from wheelchair to seat and pushing him through the airport was very rough on him. It took him many days to recover.
We returned to Bethesda on March 1. After a few days of rest (and our first nor'easter) we took Colin to NIH for a follow up visit. NIH, using a RNA sequencing, had discovered that Colin has a JAK3/STAT1 pathway that could benefit from treatment. NIH would like to start Colin on Tofacitnib(which has a black box warning). This drug is normally used on Rheumatoid Arthritis, and never used before on anyone with Colin's condition. So we were hesitant to start treatment. We would like to learn more about the drug and what other treatment options exist before moving forward.
Later that evening we recieved a phone call from Mayo Clinic explaining that Colin's genetic testing revealed that he had several mutatued genes, CYP2D6 and others - which may explain how he metabolizes medication and it's affect on his body. So, he may be predisposed to drug hypersensitivity. We spend the next several weeks learning about cytokines, JAK/STAT pathways and something about IL2 and CD25 receptors, and many other new medical terminology - all very confusing, but significant and vital to understanding what is wrong with Colin.
Throughout that week we visited other departments at Walter Reed and got further confused! And scared! This trial medicine is a very powerful immune suppressing drug - Colin would need to be monitored very closely. It also costs a fortune and may not be covered. The side effects are terriying. But so is not treating him. We must do something, but need help finding out what is best.
We were allowed two full weeks of Convalescent Leave from his command and drove to Florida to visit our family and puppies. Colin stayed indoors and mostly in bed the entire time. He was just too wiped out.
We then drove from Orlando, FL to Rochester, MN stopping halfway in between, along the way.
He began seeing Mayo Clinic departments on the 26th of March. (Quite exhausted from all of the travel.)
Colin was having another relapse during this time. He was in a lot of pain, his skin was scaling, red and inflamed, he said it felt like it was burning and he lacked energy to move about. He was also experiencing new symptoms, more fatigue and confusion. We nearly had to take him to the emergency room; fortunately, I had been trained in burn and wound care, so we were able to sucessfully control his skin flare in the hotel room with ointments and wraps. And at every medical appointment we shared our concerns from his confusion, fatigue and pain.
During our stay at Mayo Clinic, we received more interesting information from NIH which was revealed to us over the phone, Colin's blood has reactivated HHV6 virus - read below for why this is significant.
NIH and Walter Reed would like to start administering antivirals, in addition to the Tofacitinib. Antivirals are highly toxic. Ganciclovir is considered a potential human carcinogen, teratogen, and mutagen.
Tofacitinib is required by US FDA to have a boxed warning on its label about possible injury and death due to problems such as infections, Lymphoma and other malignancies which can arise from use of this drug
Here is an explanation on HHV6 viris:
It is thought that HHV-6 reactivates in response to the altered immune environment that arises during the adverse drug reaction, and consequently, a strong anti-viral immune response is triggered to combat the infection. In turn, immune cells attack the cells containing HHV-6 and infiltrate the infected organs, causing widespread damage
Colin had originally been diagnosed with Atypical relapsing and remitting DRESS or DIHS
DIHS, (the criteria esablished by the Japanese group to identify drug reaction is different than the Eurpoean model of DRESS).
The scoring system is called SCAR = Severe cutaneous adverse reactions. (specific to drug hypersensitivities).
SCARs includes four other drug-induced skin reactions, Steven Johnson syndrome (SJS); Toxic epidermal necrolysis (TEN), Stevens-Johnson/toxic epidermal necrolysis overlap syndrome (SJS/TEN); Colin had ALL of these!
We had Mayo Clinic test his blood while we are here, and he did NOT have the live virus. (???) How is that possible? Some doctors say that HHV6 can come and go, just as his skin erruptions wax and wane. Colin is in a constant state of this inflammation and no doctors or hospitals can figure out what "it" is and how to make it stop.
Here are some other terms:
DRESS = Drug reaction with eosinophilia and systemic symptoms DIHS = drug-induced hypersensitivity
The most common cure and fix to DIHS/DRESS Syndrome is plain and simple = remove the offending drug! We did that, over 12 months ago!! So why on earth does he still have it? How is that possible?
So the argument is really - Does Colin even have DRESS/DIHS?
And 12 months later, we are always being asked if we care what the cause is or what started all of this - or do we just want to work on various possible experimental treatment options?
That is what we are desperately pleading for help with - how can we make this stop?
Why does Colin have to suffer any longer with constant flares and pain every day. He is not allowed any pain medication - because Colin is susceptable to drug hypersensitivities.
We DO want to know what caused this and why. We feel that it is important to know this critical information, so that if one day he is finally in remission, that we don't accidentally cause this to happen again! We aren't looking for a band-aid; we want a cure and a safe treatment plan. Currently Colin's organs are pretty beat up from all of the steroids and immunosupression medication he has been taking for the past 12 months.
Our time here at Mayo is coming to a close. I am tearfully typing this journal entry, knowing that we will leave with no clear understanding as to what is wrong or how to stop it.
I leave you with this important fact to keep in mind, Colin's service to our country:
Colin joined the service in 1995. Today marks his 23rd year serving our country as an Aircrewman in the United States Navy. Through out his career he has enjoyed many opportunities and traveled the world to exciting and dangerous places. He has advanced in his skills and training and promoted to Senior Chief. He has much to be grateful for concerning his career - and you can see this from his pride and many devoted years of service - and from what others say about him professionally, and those that know him personally.
What you may not see is how this illness has negatively impacted him, not only in his health but how it may be the (premature) end to his military career.
The first visit (Feb. 19) brought many questions and interesting information to light, but no answers. We left hopeful that we would be able to return and continue on with a possible cure or treatment plan in sight. Our flight to and from Mayo Clinic was very challenging. Moving Colin from wheelchair to seat and pushing him through the airport was very rough on him. It took him many days to recover.
We returned to Bethesda on March 1. After a few days of rest (and our first nor'easter) we took Colin to NIH for a follow up visit. NIH, using a RNA sequencing, had discovered that Colin has a JAK3/STAT1 pathway that could benefit from treatment. NIH would like to start Colin on Tofacitnib(which has a black box warning). This drug is normally used on Rheumatoid Arthritis, and never used before on anyone with Colin's condition. So we were hesitant to start treatment. We would like to learn more about the drug and what other treatment options exist before moving forward.
Later that evening we recieved a phone call from Mayo Clinic explaining that Colin's genetic testing revealed that he had several mutatued genes, CYP2D6 and others - which may explain how he metabolizes medication and it's affect on his body. So, he may be predisposed to drug hypersensitivity. We spend the next several weeks learning about cytokines, JAK/STAT pathways and something about IL2 and CD25 receptors, and many other new medical terminology - all very confusing, but significant and vital to understanding what is wrong with Colin.
Throughout that week we visited other departments at Walter Reed and got further confused! And scared! This trial medicine is a very powerful immune suppressing drug - Colin would need to be monitored very closely. It also costs a fortune and may not be covered. The side effects are terriying. But so is not treating him. We must do something, but need help finding out what is best.
We were allowed two full weeks of Convalescent Leave from his command and drove to Florida to visit our family and puppies. Colin stayed indoors and mostly in bed the entire time. He was just too wiped out.
We then drove from Orlando, FL to Rochester, MN stopping halfway in between, along the way.
He began seeing Mayo Clinic departments on the 26th of March. (Quite exhausted from all of the travel.)
Colin was having another relapse during this time. He was in a lot of pain, his skin was scaling, red and inflamed, he said it felt like it was burning and he lacked energy to move about. He was also experiencing new symptoms, more fatigue and confusion. We nearly had to take him to the emergency room; fortunately, I had been trained in burn and wound care, so we were able to sucessfully control his skin flare in the hotel room with ointments and wraps. And at every medical appointment we shared our concerns from his confusion, fatigue and pain.
During our stay at Mayo Clinic, we received more interesting information from NIH which was revealed to us over the phone, Colin's blood has reactivated HHV6 virus - read below for why this is significant.
NIH and Walter Reed would like to start administering antivirals, in addition to the Tofacitinib. Antivirals are highly toxic. Ganciclovir is considered a potential human carcinogen, teratogen, and mutagen.
Tofacitinib is required by US FDA to have a boxed warning on its label about possible injury and death due to problems such as infections, Lymphoma and other malignancies which can arise from use of this drug
Here is an explanation on HHV6 viris:
It is thought that HHV-6 reactivates in response to the altered immune environment that arises during the adverse drug reaction, and consequently, a strong anti-viral immune response is triggered to combat the infection. In turn, immune cells attack the cells containing HHV-6 and infiltrate the infected organs, causing widespread damage
Colin had originally been diagnosed with Atypical relapsing and remitting DRESS or DIHS
DIHS, (the criteria esablished by the Japanese group to identify drug reaction is different than the Eurpoean model of DRESS).
The scoring system is called SCAR = Severe cutaneous adverse reactions. (specific to drug hypersensitivities).
SCARs includes four other drug-induced skin reactions, Steven Johnson syndrome (SJS); Toxic epidermal necrolysis (TEN), Stevens-Johnson/toxic epidermal necrolysis overlap syndrome (SJS/TEN); Colin had ALL of these!
We had Mayo Clinic test his blood while we are here, and he did NOT have the live virus. (???) How is that possible? Some doctors say that HHV6 can come and go, just as his skin erruptions wax and wane. Colin is in a constant state of this inflammation and no doctors or hospitals can figure out what "it" is and how to make it stop.
Here are some other terms:
DRESS = Drug reaction with eosinophilia and systemic symptoms DIHS = drug-induced hypersensitivity
The most common cure and fix to DIHS/DRESS Syndrome is plain and simple = remove the offending drug! We did that, over 12 months ago!! So why on earth does he still have it? How is that possible?
So the argument is really - Does Colin even have DRESS/DIHS?
And 12 months later, we are always being asked if we care what the cause is or what started all of this - or do we just want to work on various possible experimental treatment options?
That is what we are desperately pleading for help with - how can we make this stop?
Why does Colin have to suffer any longer with constant flares and pain every day. He is not allowed any pain medication - because Colin is susceptable to drug hypersensitivities.
We DO want to know what caused this and why. We feel that it is important to know this critical information, so that if one day he is finally in remission, that we don't accidentally cause this to happen again! We aren't looking for a band-aid; we want a cure and a safe treatment plan. Currently Colin's organs are pretty beat up from all of the steroids and immunosupression medication he has been taking for the past 12 months.
Our time here at Mayo is coming to a close. I am tearfully typing this journal entry, knowing that we will leave with no clear understanding as to what is wrong or how to stop it.
I leave you with this important fact to keep in mind, Colin's service to our country:
Colin joined the service in 1995. Today marks his 23rd year serving our country as an Aircrewman in the United States Navy. Through out his career he has enjoyed many opportunities and traveled the world to exciting and dangerous places. He has advanced in his skills and training and promoted to Senior Chief. He has much to be grateful for concerning his career - and you can see this from his pride and many devoted years of service - and from what others say about him professionally, and those that know him personally.
What you may not see is how this illness has negatively impacted him, not only in his health but how it may be the (premature) end to his military career.
