|Mom and Dr. Javle today at her appointment at MD Anderson|
Even more exciting, the results of genetic testing from a biopsy performed in March have been released. Mom has two genetic mutations causing her tumor. I will attempt to vaguely explain them, hopefully without losing your interest. :)
The first is a FGFR2 mutation. It causes amplification, in which a specific gene is repeatedly copied. This is characteristic of most cancers.
The second is a PTEN mutation, in which the PTEN gene is lost. Loss of the PTEN gene can lead to uncontrolled cell growth and suppression of apoptosis (programmed cell death). In Mom, the mutation is occuring due to a G to A substitution. Notice in the photo below, G (guanine) should pair with C (cytosine), and T (tyrosine) should pair with A (adenine). However, in Mom's tumor, G is pairing with A. When a new pair is made, a new code is formed, and a new amino acid is produced. PTEN mutations are rare in cholangiocarcinoma, occuring in only 9% of cases.
Hopefully I haven't lost you! My biology degree has many benefits, including understanding this jargon.
For now, Mom will continue taking her current chemo medication, Irenotecan, at 75% of the recommended dosage, as it is apparently working well. When Irenotecan stops working, she will likely switch to one or both of the medications that are tailored to her mutations. She will probably go to St. Louis for treatment at Barnes-Jewish if she decides to participate in the clinical trial.
She has been feeling the most ill and tired on Thursday, after chemo on Monday. Dr. Javle recommends Mom get 1 Liter of IV fluids on Wednesday, Thursday, and Friday after chemo to ease her symptoms on the worst days. Hopefully she can start that next week.
|Mom and I in the garden feeling sweet relief after good news today.|
|Mom, Moh, and I before Moh gives us a ride back to Bush International Airport for our trip home.|
He is a blessing and never fails to tell Mom to stop being negative and "think positive!"
That's it for now. Alarms are going off in Bush International Airport. Lights and alarms. It's INCREDIBLY hard to think. We're headed home!
Written/Posted by Jenn.