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

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 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, cafĂ© 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
Research Institute
Genetics & Genome Biology

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

Assistant Professor
Institute of Medical Sciences

Sunday, April 5, 2015

Easter time flies!

Easter 2012

Isabella 2012

"Cousin Love" Zoie, Olivia, Cash, Averi, Kylie and Isabella

Zoie, Kylie, Averi, Cash, Olivia and Bell
Kylie, Averi, Olivia and Bell

Kylie, Bell, Olivia and Averi

Zoie, Olivia, Kylie, Cash, Averi and Bell

Bell, Zoie, Kylie, Cash, Averi and Olivia

Friday, April 3, 2015

Today's MRI results...

Isabella's MRI showed, NO CHANGE!!
It's the first time in my life I have been happy about my child acting like a brat. LOL!
Thank you for all the prayers! They are working!

Worried! MRI today!

Ben, (Isabella's Dad) is going to take, Isabella, to the hospital for an MRI today.
He is very concerned she may have new tumor growth. She has been very moody, indecisive and angry. Isabella has also complained of a headache and her eye hurting.....just like a couple months ago, before we discovered her tumor. 
I am praying her attitude change is just environmental....maybe she misses her Mom! 
The girls are suppose to be coming back to Pennsyvania, next week. I hate being this far away from them! I am trying not to worry and put it in God's hands! 
She still has not started her retinolic acid regimen. The medication came in pill form. They are hard for her to swallow. We just found out we can squeeze the fluid from the pills, and put it in ice cream.  The pharmacy had initally instructed us not to. Ben was really concerned about the side effects listed on the prescription of retinolic acid. The doctor is going to monitor her closely, and does not expect her to have any serious side effects. I know they have to list all the side effects anyone has ever reported, and that can be scary! Have you ever looked up all the side effects of Tylenol? You would probably never want to take it again!
I am highly considering taking, Isabella to see a holistic practitioner in Michigan. He was recommended by someone who has the same type of tumor as, Isabella, and she is doing great! Thank you for everyone's continued prayers! I will keep you posted on her MRI results. Hopefully we will know today.

Philippians 4:6-7

Don’t worry about anything; instead, pray about everything. Tell God what you need, and thank him for all he has done. Then you will experience God’s peace, which exceeds anything we can understand. His peace will guard your hearts and minds as you live in Christ Jesus.