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

Tuesday, March 3, 2015

MRI Results....

No new tumor growth! They only saw the normal post surgical changes. Praise God! The doctor said they were probably going to admit her into the hospital. She is still slightly dehydrated, nauseous and having diarrhea.

Isabella in ER....May have new tumor growth

We are in the ER at Pittsburgh children's hospital with Isabella. She has had the stomach flu since Sunday morning. Isabella has been very lethargic, confused and off balance. They are giving her an MRI in a a few minutes. The doctors are concerned she pay possibly have new tumor growth. Please pray!

Thursday, February 26, 2015

CMMR-D/Lynch Syndrome 3-show BRAIN Tumor treatment with Temozolmide shows resistance and causes mutations that cannot be repaired!

In 2007, Scott et al44 discussed the effectiveness of chemo- therapy in patients with CMMR-D. Several cell line and mouse model studies showed that TUMORS  are RESISTANT to treatment with O6-METHALATING AGENTS .18 One of these agents (TEMOZOLOMIDE) is frequently used in the standard treatment of glioblast- oma. This DRUG causes MUTATIONS  in tumour DNA that CANNOT be REPAIRED by patients with a LOSS of MMR function. Indeed, investigation of a clinical specimen from a patient treated with this drug showed an ACCUMULATION of somatic MUTATIONS (mutator phenotype).45 In vitro studies showed a similar effect for busulfan but not for chloroethylating agents such as cyclo- phosphamide and melphalan.18

MSI occurs in some tumours following therapy with thiopurines or cisplatin, suggesting that MMR deficiency is important in clin- ical resistance.4648 

51 A report on two patients with glioblastoma showed that they were resistant to treatment with temozolo- mide.52 Another study demonstrated loss of MSH6 expression in a subset of patients with glioblastoma resistant to temozolomide.53

All patients with CMMR-D known from literature with Brain tumors 36 38 43 44 52 5458 and lymphoma38 52 57 5963 that wertreated with chemotherapy are listed in tables 4 and 5. Most patients with T cell lymphomas showed a good response to chemotherapy. However, CHEMOTHERAPY in patients with BRAIN TUMORS had a LESS favourable outcome. In particular, only one out of six  patients treated with TEMOZOLOMIDE and RADIOTHERAPY showed a partial response. In the other patients, the tumour was RESISTANT to  TREATMENT.

Whether temozolomide or other drugs such as cisplatin and busulfan are contraindicated in CMMR-D is currently contro- versial and requires further studies. As stated by Scott et al,44 early detection of tumours may allow considerations about the most effective chemotherapeutic regimen. 

Bell and her new puppy

Isabella and her new puppy!

UPMC peptide vaccination

The Congress of Neurological Surgeons has announced that Ian F. Pollack, M.D., F.A.C.S., F.A.A.P., chief, Pediatric Neurosurgery at Children’s Hospital of Pittsburgh of UPMC’s Brain Care Institute and co-director of University of Pittsburgh Cancer Institute (UPCI) Brain Tumor Program will receive the National Brain Tumor Society's Mahaley Clinical Research Award for his paper, “Peptide Vaccine Therapy for Childhood Gliomas: Interim Results of a Pilot Study.”

The award will be presented at the 2012 Congress of Neurological Surgeons annual meeting in Chicago, Oct. 6 to 10.

The first-of-its-kind study demonstrated that peptide vaccines in children with gliomas, the most common type of brain tumor, not only were well-tolerated but also showed evidence of immunological responses. Preliminary results of the study were presented at the 2012 American Association for Cancer Research Annual Meeting.

“With so many medically outstanding studies published this year in neuro-oncology, I am grateful and honored our research was selected for recognition by the Congress of Neurological Surgeons,” said Dr. Pollack, the Walter Dandy Professor of Neurological Surgery and vice chairman for academic affairs in the Department of Neurological Surgery at the University of Pittsburgh School of Medicine. “This was the first study of its type that examined peptide vaccine therapy for children with brain tumors like this, and the fact that we are now seeing tumor shrinkage is extremely encouraging in moving forward with this therapy.”

Pollack and his colleagues enrolled 32 children with gliomas, including 18 with newly diagnosed brainstem gliomas, five with newly diagnosed cerebral high-grade gliomas and nine with recurrent gliomas. Each child received serial doses of a peptide vaccine, which was designed to stimulate an immune response to a protein fragment present on their tumor cells. They are now hoping to advance this to a multicenter study within the Pediatric Brain Tumor Consortium.

The Mahaley Clinical Research Award is given at each of the American Association of Neurological Surgeons and Congress of Neurological Surgeons meetings to a neurosurgery resident, fellow, or attending who has submitted the top clinical study in neuro-oncology.

The Congress of Neurological Surgeons, a leader in education and innovation, is dedicated to advancing neurosurgery by providing members with the educational and career development opportunities they need to become leaders and innovators in the field.

For more information about Dr. Pollack, visit

UPMC appointment

We met with Neuro-oncology team at  the UMPC children's hospital on Tuesday.  First of all, I would like to say how absolutely kind and amazing they are! Dr. Mason took the time to address our concerns and discuss all available treatment options (there are not very many). He is also going to contact a pediatric doctor in Germany, to see if they have any new therapies that are not offered in the United States. Dr. Mason was very supportive of any decision we make reguarding Isabella's treatment. If we choose not to put Bell through chemotherapy and radiation (it's rarely curative) he will still continue to see Isabella as a patient and assist in her care.

Isabella may qualify for a peptid vaccination clinical trial, only offered at Children's Hospital of Pittsburgh. They are going to do a blood test on Friday to see if she is a good candidate for the trial (50/50 chance). The catch is.....she will have to undergo radiation and chemotherapy before she can start the trial. If she has any tumor growth after radiation and chemotherapy she will be disqualified. 
Isabella is scheduled for an MRI on Friday afternoon. The doctor wants to make sure her brain tumor has not grown since surgery (both Cody and Averi's brain tumors grew extremely fast). 
We continue to seek the Lord for his wisdom and guidance on which path to take. Thank you so much for everyone's continued prayers! We are so humbled by the love and support shown to our family!