CANCER R U STUPID

CANCER R U STUPID
Kylie, Olivia, Cody, Isabella and Averi - June, 2010. We now know Cody, Averi and Isabella all suffer from Lynch Syndrome III

Thursday, June 11, 2015

3 point scoring system to see if you or your child should be tested for Cmmrd!


Cmmrd, is thought to be highly under diagnosed, genetic disorder. Follow this 3 point system, to see if you or your child should be tested for for this genetic mutation. It could save you or your child's life. The treatment for Cmmrd, can be very different from standard conventional chemotherapy. Certain chemotherapy agents are contraindicated, with Cmmrd, such as O6-methylating agents. An example is, temozolomide, which is a commonly used treatment for glioblastoma. This drug causes mutations in tumor DNA that cannot be repaired by patients with a loss of MMR function. In vitro studies showed a similar resistance with busulfan, thiopurines and cisplatin. After going over this Cmmrd indication chart, and you or your child scores >3 points, contact your oncologist or geneticist for Cmmrd testing.
Indication for CMMRD testing in a cancer patient≥3 points
Malignancies/premalignancies: one is mandatory; if more than one is present in the patient, add the points

Carcinoma from the LS spectrum* at age <25 years

3 points
Multiple bowel adenomas at age <25 years and absence of APC/MUTYH mutation(s) or a single high-grade dysplasia adenoma at age <25 years

3 points
WHO grade III or IV glioma at age <25 years

2 points
NHL of T-cell lineage or sPNET at age <18 years2 points
Any malignancy at age <18 years1 point
Additional features: optional; if more than one of the following is present, add the points

Clinical sign of NF1 and/or ≥2 hyperpigmented and/or hypopigmented skin alterations
Ø>1 cm in the patient

2 points
Diagnosis of LS in a first-degree or second-degree relative

2 points
Carcinoma from LS spectrum* before the age of 60 in first-degree, second-degree, and third-degree relative

1 point
A sibling with carcinoma from the LS spectrum*, high-grade glioma, sPNET or NHL

2 points
A sibling with any type of childhood malignancy

1 point
Multiple pilomatricomas in the patient2 points
One pilomatricoma in the patient1 point
Agenesis of the corpus callosum or non-therapy-induced cavernoma in the patient1 point
Consanguineous parents1 point
Deficiency/reduced levels of IgG2/4 and/or IgA

1 point

*Colorectal, endometrial, small bowel, ureter, renal pelvis, biliary tract, stomach, bladder carcinoma.
CMMRD, constitutional mismatch repair deficiency; LS, Lynch syndrome; NHL, non-Hodgkin's lymphomas; sPNET, supratentorial primitive neuroectodermal tumours.

Wednesday, June 10, 2015

Leave no stone unturned!



Isabella had an MRI, on Monday. I'm so excited to report, they saw no tumor growth!! I cannot even begin to express how relieved I feel! It's a miracle. 

I know how rapidly both, Cody and Averi's brain tumors grew. Averi, had a complete tumor resection in March 2012. By June 2012, her tumor had grown back with a vengeance. In September, it was so large that it was blocking her ventricles, requiring emergency surgery to have a shunt placed in her head to, remove the pressure.

Cody had a clean MRI in, July 2009. On September 26th, 2009, after complaining of terrible headaches, he was diagnosed with a baseball sized tumor in his cerebellum.

So what's different with, Isabella? After lots of prayers, research and discussions with her father, we decided to start, Isabella, on cannabis oil. Could this possibly be the reason she has not had tumor growth? Absolutely. I know all the taboo that is surrounded with the use of cannabis oil. I have spoken with quite a few people who are in remission from taking CO. Many of these Cancer patients, told me they have had many friends, who no longer speak to them because they use CO for their treatment of Cancer. I am completely shocked and saddened. I do not understand why someone who is battling for their life, and having success, against all odds...would be treated with such hatred! Jesus, said, "love your neighbor as yourself." Not love your neighbor, only if you agree with everything they do! 

 Quite frankly, we use to completely be against it! It is no secret we struggled with Cody wanting to smoke marajuana. I remember, near the end of his life at, St. Jude, he called many family members, begging them to find some weed, and sneak it in the hospital...My beautiful, son..he could make me laugh harder than anyone in the world. Cody, is probably smiling down from heaven, thinking, "Mom, are you stupid? I told you  weed helps with brain cancer."


I don't know if CO is end all answer in the treatment of cancer, I pray it is! I pray for the day, when people speak of cancer as, some terrible plague from the past...that not one single person, ever again has to endure the pain, cancer has inflicted on so many lives!

My goal is to leave no stone unturned! If our story can help at least one 
person, come to God, not be afraid to think outside the box, find a cure for cancer, then it was all worth it!  

Thursday, May 28, 2015

Should your child be tested for Cmmrd? Three point guideline criteria, for Constitutional Mismatch Repair.









Indication for CMMRD testing in a cancer patient≥3 points
Malignancies/premalignancies: one is mandatory; if more than one is present in the patient, add the points
Carcinoma from the LS spectrum* at age <25 years3 points
Multiple bowel adenomas at age <25 years and absence of APC/MUTYH mutation(s) or a single high-grade dysplasia adenoma at age <25 years3 points
WHO grade III or IV glioma at age <25 years2 points
NHL of T-cell lineage or sPNET at age <18 years2 points
Any malignancy at age <18 years1 point
Additional features: optional; if more than one of the following is present, add the points
Clinical sign of NF1 and/or ≥2 hyperpigmented and/or hypopigmented skin alterations Ø>1 cm in the patient2 points
Diagnosis of LS in a first-degree or second-degree relative2 points
Carcinoma from LS spectrum* before the age of 60 in first-degree, second-degree, and third-degree relative1 point
A sibling with carcinoma from the LS spectrum*, high-grade glioma, sPNET or NHL2 points
A sibling with any type of childhood malignancy1 point
Multiple pilomatricomas in the patient2 points
One pilomatricoma in the patient1 point
Agenesis of the corpus callosum or non-therapy-induced cavernoma in the patient1 point
Consanguineous parents1 point
Deficiency/reduced levels of IgG2/4 and/or IgA1 point

*Colorectal, endometrial, small bowel, ureter, renal pelvis, biliary tract, stomach, bladder carcinoma.
CMMRD, constitutional mismatch repair deficiency; LS, Lynch syndrome; NHL, non-Hodgkin's lymphomas; sPNET, supratentorial primitive neuroectodermal tumours.

Friday, April 10, 2015

New HOPE for Isabella!

Dr. Uri Tabori 

I'm so excited! After searching tirelessly, I have found a doctor in Toronto who specializes in CMMR-D (constitutional mismatch repair deficiency). He thinks he can help, Isabella! We are having Isabella, Cody and Averi's tumor sample slides sent to him for testing. Dr. Tabori also wants to retest everyone in our family for MMR gene mutations.
Dr. Tabori treats his CMMRD brain tumor patients with radiation and retinolic acid....no chemotherapy. If and when the tumor reoccurres, Dr. Tabori, has a new immune therapy that he thinks could possibly save Isabella's life! 
Never give up hope! Keep searching for answers....with God, all things are possible!


What is CMMRD?

Constitutional Mismatch Repair Deficiency (CMMRD) (aka Biallelic Mismatch Repair Deficiency or Homozygous Mismatch Repair Mutations) is a hereditary cancer predisposition that typically presents in infancy, childhood or young adulthood. Individuals with CMMRD are at risk for developing hematologic malignancies, brain tumors, colon, small bowel, uterine, gastric, urologic and other types of cancer. Individuals with CMMRD have an estimated a 16-fold increased risk for persons with biallelic MSH2mutations. They can have multiple diagnoses of these cancers throughout their life.  Additionally, café au lait macules have been reported in these individuals.


What causes CMMRD?

CMMRD is caused by mutations in the Mismatch Repair (MMR) genes:  MLH1, MSH2, MSH6 and PMS2.  When a person has one mutation in one of their MMR gene then they have Lynch syndrome. A person must have 2 gene mutations in the same MMR gene to develop CMMRD. For example, if both their mother and father had one mutation in their PMS2 genes they would have to inherit both their mother’s and father’s mutated copy.




The Hospital for Sick Children
Staff Oncologist
Haematology/Oncology
Research Institute
Scientist
Genetics & Genome Biology

Principal Investigator
The Arthur and Sonia Labatt Brain Tumour Research Centre
University of Toronto
Assistant Professor
Paediatrics

Assistant Professor
Institute of Medical Sciences