5fu Toxic/deadly if You Have Dpd Enzyme Deficiency

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RE: 5fu Toxic/deadly if You Have Dpd Enzyme Deficiency

by nelsonterry on Mon Aug 18, 2014 05:27 PM

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The 5fu chemo I had was Efudex chemo cream and I was given it for skin cancer. As soon as I started using it 1st day I started to have flu like symptoms I did not realize at first it was the Efudex but it escalated into a toxic reaction. This happened to me in October 2010 I have had on going issues ever since. As I said before prior to this I was perfectly healthy all my life. My muscle pain and weakness overall low endurance progressively worsens it has not gotten better. My immune.system has gotten much stronger but has taken a lot of research on my part it took me 2 years to get my vitamin levels back up and my doctor continues to do blood work every 6 months.

RE: 5fu Toxic/deadly if You Have Dpd Enzyme Deficiency

by DaveBartholomew on Mon Aug 18, 2014 07:52 PM

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On Aug 18, 2014 5:27 PM nelsonterry wrote:

The 5fu chemo I had was Efudex chemo cream and I was given it for skin cancer. As soon as I started using it 1st day I started to have flu like symptoms I did not realize at first it was the Efudex but it escalated into a toxic reaction. This happened to me in October 2010 I have had on going issues ever since. As I said before prior to this I was perfectly healthy all my life. My muscle pain and weakness overall low endurance progressively worsens it has not gotten better. My immune.system "" target="_blank" rel="nofollow">http://immune.system " target="_blank" rel="nofollow">immune.system has gotten much stronger but has taken a lot of research on my part it took me 2 years to get my vitamin levels back up and my doctor continues to do blood work every 6 months.

Dear Nelson Terry

I know that the 5FU Chemo-cream for cancer of the skin is a separate problem.  What you did creates additional problems. I have spider venom in my system, my immune.system is not strong enough to fight it, since I had an allergry response, from childhood bee and ant stings, from teenage wasp and bee stings again, my system is like a percolator, like old coffee, just keeps on brewing making the venom toxins more powerful than the last month. The 5FU, as a spider venom molecule component may interact to make the coffee-brew more difficult to treat. BUT. I encourage the rebuilding of endurance, to strength your own body’s powerful mechanism to heal itself, this white blood soldier needs help and ammunition, whatever. Here’s my list:

 

                   Successful treatment methods to counteract systemic Venom Poisoning

     1:  Anti-Venom Drugs   2:  Hyperbaric Oxygen   3:  Surgery of All    4:  Cellulites liposuction.

                        Quick treatment for eradication of systemic poisoning, life-threatening spider venomization plan.

 

                              What are the medications and treatment that have been successful for venom / necrosis neurotoxin / infectious disease?  There are three  –  all of which should be used.  (oversight of toxicologist’s)  See also, the U.K. Report.

1./       Hyperbaric Oxygen Medicine / Therapy    (  TO FIND LOCAL South Orange County providers )  BACKGROUND:   FROM the DR. DAVIS discussion:     Example:  Susan Rodriguez C.H.T.  or Patrick Rodriguez C.H.T., D.M.T., E.M.T.  Founders /  Rapid Recovery Hyperbarics  email: Hyperbaric1@earthlink.net     Phone: (909) 477-4545   Riverside CA area.    www.hbot4u.com  Susan (above) is the best knowledgeable resource that I have talked to.   Dr. Davis should call Ms. Rodriguez).     Doctor Davis and Hartford Insurance dropped coverage about summer 2013.  Yet, it is Dr. Davis who identified the Hyperbaric Pressurized Oxygen Tank Treatment in combination with IV / proper medications.  ( there are now a half dozen articles; similar to gangrene disease treatment.)

 

                2./       Drug / anti-venom treatment     (THIS DRUG TREATMENT is for SPIDER VENOMIZATION ) 

To be given by   IV drip:  or,  injecting 1/10th CC of Dexamethasone (a cortisone)  Dexamethasone  http://en.wikipedia.org/wiki/Dexamethasone  is a potent synthetic member of theglucocorticoid class

ofsteroiddrugs. It acts as ananti-inflammatoryandimmunosuppressant. When taken orally, it is 26.6

times more potent than the naturally occurring hormonecortisoland 6.6 times more potent than prednisone.[cita  / See also the Austrian article about Red-Back Spider new cortisone developed.

 

               3./      Surgery and removal of all the venom mounds.  ( about 20 mounds at present date.

And spreading / see Colonoscopy planning.)    Including the large wasp mounds of 1971 and the

Africanized bee mounds of 2001 that may or may not exist under the hair on my head.   Combine this

day of surgery mound removal  withIV drip  of cortisone anti-venom drugs (as above), 4 to 5 days

constant drip.   ( see notes from Saddleback Hospital, 2012)   Follow the hospital, return to the Hyperbaric Oxygen Chambers for 30 or 40 treatments.

 

                  4./      Cellulites Disease as side effect:   Surgery liposuction with venom meds and procedures above for Definition  http://www.mayoclinic.org/diseases-conditions/cellulitis/basics/definition/con-20023471 (4) Anti-Venom cellulites disease removal ( liposuction of the impacted, dehydrated core ).

 

By Mayo Clinic Staff Cellulitis  Cellulites (sel-u-LI-tis) is a common, potentially serious bacterial skin infection. Cellulitis appears as a swollen, red area of skin that feels hot and tender, and it may spread rapidly.  

                 Skin on lower legs is most commonly affected, though cellulitis can occur anywhere on your body or face. Cellulitis may affect only your skin's surface, or cellulitis may also affect tissues underlying your skin and can spread to your lymph nodes and bloodstream.

                 Left untreated, the spreading infection may rapidly turn life-threatening. That's why it's important to seek immediate medical attention if cellulitis symptoms occur.

 

Good luck and let me know how things go for you … Dave B

RE: 5fu Toxic/deadly if You Have Dpd Enzyme Deficiency

by fishtank22 on Mon Sep 08, 2014 02:53 AM

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DO NOT TAKE THIS DRUG WITHOUT BEING TESTED FIRST!

My friend, a 42 year old mother of three, was diagnosed with early stage colon cancer in February 2014 and subsequently had successful surgery to remove the tumor.  However, today she is fighting for her life after a single chemotherapy treatment.  She has been in a coma and virtually unresponsive for over 5 months but is slowly making slight progress. 

After recovering from surgery Kerrie began a six month chemotherapy regimen in mid March 2014 and immediately became very ill and was admitted to the hosptial on March 31st.  Kerrie’s condition continued to worsen and became life threatening in the subsequent weeks. A test performed after her admission revealed that Kerrie has a condition known as a DPD deficiency, which prevents her body from breaking down one of the chemotherapy drugs she received (5-FU / fluorouracil).  

After receiving the DPD test results Kerrie’s doctors gave her no chance for survival.  They contended that since her body could not break down the 5-FU its toxicity would ravage her body and immune system and prevent her from fighting even minor infections that would likely kill her.  

Kerrie’s condition deteriorated quickly in the hospital and she fell into a coma and was admitted to the ICU after several days. She spent months in the ICU unresponsive.  She suffered greatly from severe mucositis and pneumonia and was nearly killed by a minor infection in mid April.

Throughout this ordeal Kerrie's husband and her extended network of family and friends have been fighting tirelessly as her advocates.   After Kerrie was admitted her husband identified an experimental drug named Uridine Triacetate and worked feverishly to obtain it in an effort to save Kerrie.  After significant effort and a successful appeal to the Federal Drug Administration Glenn was able to obtain the drug for Kerrie and we believe it may have helped save her life.  Glenn and his family and friends have used their extended network and the power of social media to raise awareness of Kerrie’s case and to assemble a global network of expert advisors who have provided invaluable assistance.

Kerrie beat the odds and survived long enough for her immune system to recover and protect her from infection.  The mucositis subsided and her vital signs gradually improved through the end of April but she remained in a coma and in the ICU for weeks.

She gradually improved in the subsequent weeks but remained in a coma and was transferred to the top brain rehabiliation facility in mid June.  At this facility Kerrie immediately began receiving intensive therapy and treatment to help her emerge from the coma.

Kerrie has continued to make progress and as of early August she is more "awake" and has begun to respond to some commands.  Unfortunately her insurance carrier denied further coverage at this faciltiy as of 8/6.  We successfully appealed this decision and Horizon will reconsider further coverage on 8/8.  We are doing everything in our power to keep her at this facilty as we contend that she has made progress and her condition requires the level of care provided there.    

The most tragic element of this story is that it was entirely avoidable.  Had Kerrie been tested for DPD deficiency prior to the start of her chemotherapy regimen she would not have been given 5-FU and her life would not have been put at risk. 

We continue to fight for her and will not give up.  She survived for a reason and has come too far not to rejoin the family she loves and that needs her so dearly.

TESTING MUST BE MADE MANDITORY BEFORE ANY PATIENT TAKES THIS DRUG.

RE: 5fu Toxic/deadly if You Have Dpd Enzyme Deficiency

by ReleaseMe on Mon Sep 08, 2014 03:15 AM

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Thank you for this post . My mom's doctor's never mentioned the test to us. We found out about  the test through doing our own research and insisted it was done. People need to know about this ! 

RE: 5fu Toxicity

by nellis on Sat Oct 11, 2014 08:34 PM

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On Jan 27, 2009 12:00 AM rickbnsa wrote:

Hello again all,

We've exhausted our legal possibilities regarding my wife's death to 5-fu toxicity/dpd deficiency. Seems there are none as any testing isn't a standard of care.  I'm sure others have hit the same wall.  Even the offer of 100% settlement to the lawyers wasn't enough to get justice and set a precedence.

We recently started a web page dedicated exclusively to DPD Deficiency in an effort to gather as much information in one location.  I hope this may better assist others facing the experience all of us had endured.

www.dpd-deficiency.com

Its amateurish yet and no message board to post experiences.  That'll come but being I'm a wrench and hammer guy, it may be a bit.

I would like to be able to post everyone's experience and the only way I can currently offer is to email to the contact email address.  From there, I will post it unedited to the site minus any personal information if requested.

I wish to thank folks here for the start of the knowledge that our family found, it really was the only place with anything like it.

Also, thanks to Cancercompass and Kelly for permission to link this website.

May we continue to learn and educate.

rickbnsa

So sorry about your wife. I too have been diagnosed with a type of DPD Deficiency, though my doctor cannot find a lab to confirm it. My understanding is that there is a " common" DPD deficiency that about 50% of deficiency sufferers can be tested for. I tested negative for that one. Then there is the rarer deficiency that the other 50% suffer from. The labs of the US have stopped testing for that because of the rarity. My clinic has searched the country trying to find a lab to confirm that I fall into the rare group, but no one seems to test for it anymore. Even so, my doctor, who has suspended my chemo for almost a month, has decided to proceed as if I have the deficiency because of the problems I've had with only 5 treatments. Chronic dehydration and diarrhea (which cost me a 4 day hospital stay), low blood counts, shortness of breath, and debilitating fatigue are some of the issues I've suffered with 5FU. My dr plans to restart my chemo at half the strength I was receiving before. If I continue to have issues, she's said I will be removed from chemo all together. After reading the messages on this thread, I'm not sure which is scarier - more 5FU or no chemo at all. FYI, my diagnosis is Stage 3 Colon Cancer, though the cancer and affected lymph nodes were removed. My treatment was to be for 24 weeks. I really don't know what to do. I will definitely visit your website.

sebastopoljohn sebastopoljohn
(Inactive)

RE: 5fu Toxic/deadly if You Have Dpd Enzyme Deficiency

by sebastopoljohn on Tue Nov 18, 2014 01:20 AM

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Prior to colorectal surgery, I had 5 weeks of radiation. At the same time I had 5-FU via a pump, continuous for 5 days, and weekends off the pump. It reduced my white blood count to the bottom of the normal range and made me feel awful, but I bounced back quickly after it ended, and between the 5-FU and the radiation, my colon cancer was gone, leaving behind only scar tissue. My oncs did this because I also had prostate cancer (unrelated) that needed treatment, and they didn't want to put off addressing the colon cancer that long. After colon surgery, my medical onc talked me into the Folfox treatment. I had one infusion, and a day or two later, I felt awful. I got slowly better over the next few days, but at day nine I started running a fever of 102.4. I called the onc, and he said to get to the E.R. ASAP. It turns out that my immune system had totally crashed...almost no white blood cells, or any of the other cells that fight infection. One untreated virus or bacteria, and I would die (30% of the folks that have this happen do). In the hospital, they gave me tons of all sorts of antibiotics, and also some drugs to jump-start my immune system. I was in the hospital for a week, and by the end of the week, my immune system had been rebooted, with white blood cells on the high end of normal. I still feel weak, tired, and out of breath, and I was told that I still had 5-FU in my body. I thought that since I had tolerated slow-dose 5-FU before, I would be OK, and when I crashed, I thought it must be the Oxaliplatin that did it, but no, it was the 5-FU. DPD enzyme deficiency comes in degrees of deficiency, and I surmise that I had enough for the slow-dose rate, but not for the Folfox treatment, Bottom line, always get the DPD deficiency test before beginning any treatment with 5-FU.

RE: 5fu Toxic/deadly if You Have Dpd Enzyme Deficiency

by bryon.clough on Fri Nov 21, 2014 11:28 PM

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On Sep 08, 2005 12:00 AM Maryl wrote:

was diagnosed with breast cancer and received my first dose of 5 FU on July 15th, 11 days later I was admitted to the hospital due to severe toxic reaction to the 5 FU, I was diagnosed with grade 4 (4 being the most severe level) - grade 4 leukopenia, thrombocytopemia, stomasitis, mucocitis, and diarrhea. I was in the hospital for 13-days, do not remember anything of the first week. My family was told I may not make it and supportive care was offered. Needless to say I did make it, however 4-weeks later I am still unable to what I had done prior to chemo due to fatigue. I was informed following this episode that it is very rare and they had never seen this type of reaction, and that I apparently had a deficiency in an enzyme called DPD which makes my body unable to metabolize the 5FU. Upon further research I found that approx. less than 5% of the population has this deficiency and those that do have had toxic reactions to 5FU, including death. I also found out there is a test for this enzyme, but was told by my oncologist it is not the standard of practice to test for DPD? I do highly recommed anyone who is about to recieve 5FU discuss with your physician the effects of DPD and 5FU, the odds are in your favor you will not have this deficiency since less than 5% of the population does, but I can assure you if you are in that 5% you do not want to have 5FU, I am truely very lucky to be alive today. I would be very interested in hearing from anyone who has had or knows someone who has had this reaction to 5FU.

Hello. This thread has been up for quite a few years and I am thankful to hear everyone's stories regarding 5-FU and the DpD enzyme. I didn't hear about this until I started working with a Gastric Radiation Oncologist so I decided to seek out information.

My story shares no insight or answers but I believe it's relevance to the circumstance at hand can only prove the importance of the genetic testing for the enzyme.

My mother was diagnosed with Stage 4 colorectal cancer and underwent multiple resections and radiation treatments throughout the course of her life. After a 2nd reoccurence shown on her PET, she was subsequently started on a continous infusion of 5-FU via port and sent home. After being sent home with the infusion pump, she started experiencing severe nausea and vomiting exceeding 10 episodes. She presented to the ED with these symptoms, was given hydration and sent home the next morning with the pump still infusing. Back at the house, she exhibited further nausea and vomiting and was taken to the emergency department. In the parking lot of the emergency department, she suffered a heart attack and did not survive.

Its been three years since she passed away, but I decided to open up the band aid. I am requesting her medical records so they can be reveiwed. I know she never received genetic testing for the Dpd enzyme but given the family history of colon CA, this information could potentially be vital in the future if someone else in my family were to have cancer.

I hope my mothers story may positively impact the state of genetic testing for the Dpd enzyme and educate others on the importance of it's value. Please note: upon her death, it was never confirmed or brought up that my mother suffered a heart attack from this deficiency.

Thank you

RE: 5fu Toxic/deadly if You Have Dpd Enzyme Deficiency

by kensbc on Tue Feb 17, 2015 01:05 AM

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It saddens me to see just how many have suffered because pre-screening is not a "standard of care" prior to the state of chemotherapy with 5-FU.  I lost my wife in August 2012 to the effects of this treatment.  She only had one round of chemo and died within 3 weeks.

Our children have been tested and they all inherited her DPD deficiency.

My family and I continue to advocate for changes in treatment practices. You may read more about the risk of this form of treatment and actions we can take to effect changes at: www.know _the_risk_of_5FU_chemotherapy.com

Ken

RE: 5fu Toxic/deadly if You Have Dpd Enzyme Deficiency

by mcash76 on Thu Feb 26, 2015 07:20 PM

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I am new to this message board, and so glad to have found it. After reading through all of the posts on here I am alarmed the health care profession has done nothing to make the DPD deficiency test a required screening for anyone about to undergo treatment with 5-fu chemo.  

My mom, who is 65 years old, was diagnosed first with stage 4 ovarian cancer in December 2014. She had felt somewhat "constipated" and had a "fullness" in her abdomen since March of 2014 which increased to the point of going to her Internal Med MD.  When they did the Abdominal & Transvaginal Ultrasound they found masses on her uterus, fallopian tubes, and on her omentum (the inner lining of the abdominal cavity), as well as ascites within her pelvis.  She was immediately sent for an Abdominal/Pelvic CT which confirmed the above findings. The IM MD sent her to an Oncoligist who specialized in ovarian cancer.  She performed a vaginal exam in office and discovered there was also colon involvement.  Mom was scheduled for debulking surgery for January 5, 2015.  When they open her up, the cancer was worse than they had anticipated.  It is Signet Ring Cell which is best described as gelatenous.  They were able to do a complete hysterectomy, but were unable to remove any from the colon due to how the tumors were "laying" and "tied into" the actual blood supply of the colon itself.  They were also unable to remove any from the omentum as it was so inmeshed with the normal cell structure, and the largest tumor is on her diaphragm on her left just above her stomach.  They also found a tumor on her appendix, but stated it was too dangerous to take it, or the entire appendix at this time.  The Oncologist spoke with myself and my step-dad after the surgey informing us of her disappointment with the surgery outcome, and her intentions for FOLFOX chemo.  

I am an ICU nurse, and we are trained to think and anticipate what could happen.  My thoughts went immediately the fact that she already had ascites, nausea, vomiting, anorexia related to the abdominal distention, lethargy, and might have weighed 100 lbs prior to the surgery.  During our discussion with the Oncologist, she stated her major disappointment with the surgery was that mom would not really have any relief from the symptoms.  

I then remembered a result from a 23andme DNA test from back when they were still doing the health screenings along with the DNA tests.  When I got a chance, I went into my 23andme account and looked up the results again for my drug response under the Health and Traits section.  Sure enough, there it was...Increased risk for Fluorouracil Toxicity.  I inherited 1 copy of the DPYD*2A mutation, which encodes the DPD enzyme, from 1 of my parents.  

      "Fluorouracil Toxicity

5-fluorouracil (5-FU) is a chemotherapy drug used to treatseveral types of cancer, including colorectal, breast, esophagealand stomach. Although the drug is very effective, there is adownside: about 30% of people receiving this therapy sufferfrom serious and sometimes deadly toxicity. Many cases oftoxicity are due to deficiency of an enzyme called DPD thatnormally breaks down 5-FU in the body. Roughly half of thepeople with DPD deficiency have mutations in the gene thatencodes the enzyme.

Mutations in the DPYD gene, which encodes the DPD enzyme,can cause DPD deficiency. More than 30 mutations in this genehave been reported, although not all of these haveconsequences for 5-FU metabolism. 23andMe reports data forone DPYD mutation in particular, DPYD*2A. About a quarter ofpeople who experience 5-FU toxicity have either one or twocopies of this mutation. Not all 5-FU toxicity is caused by DPDdeficiency, and not all DPD deficiency is due to genetic causes.Other factors that can affect a person's risk of 5-FU toxicityinclude gender, ethnicity and age."

(My personal report page at      23andme, 2015)

Not knowing which parent I inherited this from, I of course wanted her tested prior to receiving any chemo.  I said something to the RN she had on her last day in the hospital who relayed the info to one of the residents who stated, "they didn't even know what type of chemo she would be having if any yet", and to "address that during the follow up appointment".  In other words...I don't want to deal with you or your concerns right now.   I decided not to waste my time with said resident, but wait to speak with the Oncologist personally.  

When the path report finally came back, they decided it was Stage 4 appendix cancer with METS, Signet Ring Cell.  So now mom was being sent to another Oncologist who specialized in this type of cancer.  They did an Abdominal CT on January 26th and ended up performing a parcentisis (poked a hold in her abdomen) and drained 1.6 liters of fluid off to try to alleviate her abdominal distention causing her current nausea, vomiting and anorexia.

The next thing I knew, it was February 4th and my mom was texting me telling me she was at the hospital starting chemo.  My heart sank. I live 5 hours from my mom, have a 7 year old daughter, a husband, and work full time also.  I wanted nothing more than to drop everything and be there right then.  The last I had heard they were to start on the 25th, so I thought I still had time.

She went through the initial hospital treatment and was sent home with the port and "bag" for the next 2 days.  She seemed to do ok except for frequent urination, understandably, and extreme weakness. After the treatment was over, she developed severe mucositis with stomatitis (mouth sores), extreme sensitivity to temperatures within her mouth, anorexia of course, and lethargy.  When I brought up the possible deficiency to my step-dad to mention to the Oncologist it was brushed aside and stated that the MD's were doing the best they could for them.  Not being on the list to speak to the MD's/RN's as far as HIPPA goes, I had no where to go.

So mom went in on the 25th for her second round.  Thank the Lord they ran labs before they started the chemo.  She has lost 17 lbs since her last visit, and her white blood cell count went from 10 to 80 (leukocytosis). When I asked what they were planning to do, she said she didn't know yet. She said they had done a chest x-ray, but she still didn't know the results.  So this morning when I called I asked her to please have me added to her list of people who could speak with the MD's and RN's, and also please have them test her for the DPD deficiency.  She then told me they had done the test yesterday when the initial results had come back so elevated, and it will take 2 weeks to result.  She said they were planning on giving her something to try to treat the leukocytosis, but she didn't know what yet.  

So I am back to the waiting game.  I was told by my step-dad recently that the MD's still don't technically know what type of cancer it really is.  From what little I do know about oncology, and the few patients I have had with cancer, it would seem to fall under the category of peritoneal cancer.  I would presume still Stage 4 with METS.  Just wondering what kind of experience anyone else has had with this type. Also, being in the difficult situation of being the daughter when there is a step-parent involved and not wanting to step on toes.  He is a great man, loves her dearly, and takes great care of her, but has the "Let's just all stay positive" mentality.  I'm a very "tell-me-like-it-is" type and want to know what's going on.  Call it the nurse in me or whatever, but this has been one of the hardest parts for me personally.  I just don't want to loose my mom.

Caroline

sebastopoljohn sebastopoljohn
(Inactive)

RE: 5fu Toxic/deadly if You Have Dpd Enzyme Deficiency

by sebastopoljohn on Thu Feb 26, 2015 08:56 PM

Quote | Reply

On Feb 26, 2015 7:20 PM mcash76 wrote:

I am new to this message board, and so glad to have found it. After reading through all of the posts on here I am alarmed the health care profession has done nothing to make the DPD deficiency test a required screening for anyone about to undergo treatment with 5-fu chemo.  

My mom, who is 65 years old, was diagnosed first with stage 4 ovarian cancer in December 2014. She had felt somewhat "constipated" and had a "fullness" in her abdomen since March of 2014 which increased to the point of going to her Internal Med MD.  When they did the Abdominal & Transvaginal Ultrasound they found masses on her uterus, fallopian tubes, and on her omentum (the inner lining of the abdominal cavity), as well as ascites within her pelvis.  She was immediately sent for an Abdominal/Pelvic CT which confirmed the above findings. The IM MD sent her to an Oncoligist who specialized in ovarian cancer.  She performed a vaginal exam in office and discovered there was also colon involvement.  Mom was scheduled for debulking surgery for January 5, 2015.  When they open her up, the cancer was worse than they had anticipated.  It is Signet Ring Cell which is best described as gelatenous.  They were able to do a complete hysterectomy, but were unable to remove any from the colon due to how the tumors were "laying" and "tied into" the actual blood supply of the colon itself.  They were also unable to remove any from the omentum as it was so inmeshed with the normal cell structure, and the largest tumor is on her diaphragm on her left just above her stomach.  They also found a tumor on her appendix, but stated it was too dangerous to take it, or the entire appendix at this time.  The Oncologist spoke with myself and my step-dad after the surgey informing us of her disappointment with the surgery outcome, and her intentions for FOLFOX chemo.  

I am an ICU nurse, and we are trained to think and anticipate what could happen.  My thoughts went immediately the fact that she already had ascites, nausea, vomiting, anorexia related to the abdominal distention, lethargy, and might have weighed 100 lbs prior to the surgery.  During our discussion with the Oncologist, she stated her major disappointment with the surgery was that mom would not really have any relief from the symptoms.  

I then remembered a result from a 23andme DNA test from back when they were still doing the health screenings along with the DNA tests.  When I got a chance, I went into my 23andme account and looked up the results again for my drug response under the Health and Traits section.  Sure enough, there it was...Increased risk for Fluorouracil Toxicity.  I inherited 1 copy of the DPYD*2A mutation, which encodes the DPD enzyme, from 1 of my parents.  

      "Fluorouracil Toxicity

5-fluorouracil (5-FU) is a chemotherapy drug used to treatseveral types of cancer, including colorectal, breast, esophagealand stomach. Although the drug is very effective, there is adownside: about 30% of people receiving this therapy sufferfrom serious and sometimes deadly toxicity. Many cases oftoxicity are due to deficiency of an enzyme called DPD thatnormally breaks down 5-FU in the body. Roughly half of thepeople with DPD deficiency have mutations in the gene thatencodes the enzyme.

Mutations in the DPYD gene, which encodes the DPD enzyme,can cause DPD deficiency. More than 30 mutations in this genehave been reported, although not all of these haveconsequences for 5-FU metabolism. 23andMe reports data forone DPYD mutation in particular, DPYD*2A. About a quarter ofpeople who experience 5-FU toxicity have either one or twocopies of this mutation. Not all 5-FU toxicity is caused by DPDdeficiency, and not all DPD deficiency is due to genetic causes.Other "" target="_blank" rel="nofollow">http://causes.Other " target="_blank" rel="nofollow">causes.Other factors that can affect a person's risk of 5-FU toxicityinclude gender, ethnicity and age."

(My personal report page at      23andme, 2015)

Not knowing which parent I inherited this from, I of course wanted her tested prior to receiving any chemo.  I said something to the RN she had on her last day in the hospital who relayed the info to one of the residents who stated, "they didn't even know what type of chemo she would be having if any yet", and to "address that during the follow up appointment".  In other words...I don't want to deal with you or your concerns right now.   I decided not to waste my time with said resident, but wait to speak with the Oncologist personally.  

When the path report finally came back, they decided it was Stage 4 appendix cancer with METS, Signet Ring Cell.  So now mom was being sent to another Oncologist who specialized in this type of cancer.  They did an Abdominal CT on January 26th and ended up performing a parcentisis (poked a hold in her abdomen) and drained 1.6 liters of fluid off to try to alleviate her abdominal distention causing her current nausea, vomiting and anorexia.

The next thing I knew, it was February 4th and my mom was texting me telling me she was at the hospital starting chemo.  My heart sank. I live 5 hours from my mom, have a 7 year old daughter, a husband, and work full time also.  I wanted nothing more than to drop everything and be there right then.  The last I had heard they were to start on the 25th, so I thought I still had time.

She went through the initial hospital treatment and was sent home with the port and "bag" for the next 2 days.  She seemed to do ok except for frequent urination, understandably, and extreme weakness. After the treatment was over, she developed severe mucositis with stomatitis (mouth sores), extreme sensitivity to temperatures within her mouth, anorexia of course, and lethargy.  When I brought up the possible deficiency to my step-dad to mention to the Oncologist it was brushed aside and stated that the MD's were doing the best they could for them.  Not being on the list to speak to the MD's/RN's as far as HIPPA goes, I had no where to go.

So mom went in on the 25th for her second round.  Thank the Lord they ran labs before they started the chemo.  She has lost 17 lbs since her last visit, and her white blood cell count went from 10 to 80 (leukocytosis). When I asked what they were planning to do, she said she didn't know yet. She said they had done a chest x-ray, but she still didn't know the results.  So this morning when I called I asked her to please have me added to her list of people who could speak with the MD's and RN's, and also please have them test her for the DPD deficiency.  She then told me they had done the test yesterday when the initial results had come back so elevated, and it will take 2 weeks to result.  She said they were planning on giving her something to try to treat the leukocytosis, but she didn't know what yet.  

So I am back to the waiting game.  I was told by my step-dad recently that the MD's still don't technically know what type of cancer it really is.  From what little I do know about oncology, and the few patients I have had with cancer, it would seem to fall under the category of peritoneal cancer.  I would presume still Stage 4 with METS.  Just wondering what kind of experience anyone else has had with this type. Also, being in the difficult situation of being the daughter when there is a step-parent involved and not wanting to step on toes.  He is a great man, loves her dearly, and takes great care of her, but has the "Let's just all stay positive" mentality.  I'm a very "tell-me-like-it-is" type and want to know what's going on.  Call it the nurse in me or whatever, but this has been one of the hardest parts for me personally.  I just don't want to loose my mom.

Caroline

Do not worry about stepping on toes! Your mom needs an advocate that has the strength to do battle for her. The strength she no longer has.

Some of her symptoms are probably caused by other components of the FOLFOX regimen. Here is what's in the infusions, other than drugs that treat the side effects:

  • FOL–Folinic acid(leucovorin)
  • F –Fluorouracil(5-FU)
  • OX –Oxaliplatin(Eloxatin)

I'm not sure, but I think it is the Oxaliplatin that causes the mouth sores and temperature sensitivity, and I don't know if OX is relevant to the DPD enzyme deficiency problem.

Also, DPD enzyme deficiency manifests in degrees. Your mom may be able to handle some amount of 5-FU, but not the usual FOLFOX dosage. I was able to handle a very slow drip, administered by a portable pump for five days a week, over a five week course, but when I got a full FOLFOX infusion, it completely overwhelmed my immune system. I started running a high fever, and wound up in the hospital where I was given tons of antibiotics and drugs to stimulate my immune system. My white blood count went from 0.3 when I was admitted, which is almost nonexistant, to 11.4 after treatment. In comparison, my white blood count hovered around 3, which is low-normal during the first 5-FU treatment.

So please use the internet to research the heck out of this issue, and when armed with facts and solid references from reputable websites, go do battle for your mom.

Best wishes to you and your mom, John

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