Diagnosis & Treatment

In December 2011, Madeleine was admitted to Mattel Children's Hospital at Ronald Reagan UCLA Medical Center with severe hydrocephalus being caused by a pineal gland tumor. She immediately underwent surgery to place a VP shunt in her head to relieve the pressure in her brain caused by the backup of cerebral fluid. The initial MRI also identified the size and shape of the tumor as too dangerous to remove at that time. A week later she underwent a biopsy surgery to determine the pathology of the disease. Over a week later her parents learned that what was initially thought to be consistent with a germ cell tumor is actually a very rare Atypical Teratoid Rhabdoid Tumor (AT/RT). About 3 in every 1 million children are diagnosed each year around the world. Madeleine is one of the youngest children ever diagnosed with AT/RT at 11 weeks old since the tumor was classified from other common brain tumors. The symptoms are different for every patient as are treatment plans depending on the location and size of the tumor, the age and general health of the patient. Read More

Madeleine's tumor is overgrowing the pineal gland in the center of her brain. As of now, surgery is the best option for a complete cure of the disease but is not possible yet. Her treatment is expected to last 6-7 months unless the chemo works like magic (aka by divine intervention) and shrinks the tumor to a small enough size that her pediatric neurosurgeon can remove most or all of the tumor. Additional chemo will be needed to clean up any residual disease left in the brain after the imminent surgery. The chemotherapy is extremely aggressive to attack an extremely aggressive tumor; for that reason, Madeleine will likely remain in the hospital for close observation should immediate adjustments to her protocol be necessary, and could be for the duration of her treatment. She receives excellent care at UCLA; however, it's not possible to have a staff nurse or CNA with her constantly, which is one of the reasons her parents have decided not to leave her bedside.

UPDATE February 2012:
Madeleine underwent surgery to remove the shrunken tumor on February 8th!! Per the protocol, the earlier surgical removals increased the patient's survival incredibly. Although the bulk tumor has been removed, the disease that caused it is very aggressive and malignant so she will continue to be treated with chemotherapy to completely kill the disease and prevent it from coming back and forming other tumors. 
Her chemotherapy is still planned for 5 total cycles. The first two (Jan-March) are induction chemos where she receives high dose chemo with significant side effects. The last three (March-June) are called transplant rescue chemotherapy where the high dose chemo essentially wipes out the bone marrow stem cells completely and the patient then receives their own stem cells back through transplant. 

We've since learned that Madeleine has a genetic mutation of the INI1 gene, believed to be a rhabdoid tumor predisposition syndrome. The normal gene protects a child from abnormal cell growth; as a result of the mutation, Madeleine is theoretically more likely to develop rhabdoid tumors in her brain, kidneys and belly until she is 5 years old. As a result of being a tumor disease survivor and the genetic mutation, each month Madeleine will have an MRI scan of her brain and she will have ultrasounds of her belly every 2 months. As she gets older, the frequency of the scans will spread out. 

Let's just say her 5th birthday party will be at Disneyworld!!!!!

UPDATED October 2012:
Just 3 months post-treatment, Madeleine's MRI showed a new tumor (12mm x 19mm) in the same region. She underwent surgery on October 5th, just 3 days after her 1st birthday. 

Update 2014:
Lurie Children's Hospital completed a study in 2014 that was published relating to the variables in the AT/RT disease and how it relates to the chromosomal deletion or mutation. This is one of the things we learned in her Genetics testing. It is the first published piece of information that clearly states how to identify each child. Madeleine is considered a "de novo" case in which neither of her parents carry a genetic deficiency and her genetic deletion was unique to her embryonic development in the womb and also found throughout her body, as opposed to the tumor alone.
http://www.luriechildrensresearch.org/istar_at_rt/