About Atypical Teratoid Rhabdoid Tumours (ATRT) – Tali’s Fund
In that devastating moment when you discover your child is seriously ill, your life and that of your family is forever changed. From that moment on, as a parent, you do absolutely everything in your power to find answers to questions, to access treatment, and to ensure that your child’s quality of life is as good as it can possibly be. Tali’s Fund was created because of a strong little girl who fought a valiant battle with Atypical Teratoid Rhabdoid Tumours (or ATRT), a rare and aggressive brain cancer. Today, we are going to take you through the definition, symptoms, treatment, and research for ATRT.
Brain tumours are the second most common type of cancer in children. How many of these are ATRT? For children 3 years or younger, figures from several studies seem to range from 6.1% to 10%. ATRT most often occurs in children ages three years old or younger, but there are cases where it can be found in older children.
Approximately half of these tumours occur in the child’s cerebellum and brain stem. The cerebellum is the area of one’s brain that controls movement and balance, while the brain stem controls basic body functions including breathing, eating, sleeping, and heart rate regulation.
There are several symptoms, many of which can happen out of nowhere and advance very quickly. Some basic symptoms that parents may notice in their child include:
- Headaches – specifically upon waking up in the morning
- Nausea and vomiting
- Fatigue and a lack of enthusiasm
- Issues with balance and coordination
- Hydrocephalus – a buildup of fluid in the brain that in infants, can increase head size or in older children, can cause headaches and vomiting
The road to diagnosis includes a number of physical and neurological exams and diagnostic tests. When looking at the MRI of an ATRT patient, the tumour itself may often appear quite large and can be accompanied by possible signs of bleeding or dead tissue. ATRTs are generally fast-growing and can spread to other areas of the central nervous system.
When it comes to treatment of ATRT, there is currently no standard method. The first explored step is usually surgery to safely remove as much of the tumour as possible. Outcome will depend on each case and the patient’s progression at the time of detection. Following surgery, regular or high dose chemotherapy and radiation will be considered. An option for some ATRT patients is also stem cell transplant, which is considered with particularly aggressive tumours. A stem cell transplant transfuses healthy bone marrow cells, thus helping to protect the child from intensive chemotherapy treatments, which can damage their own bone marrow. Some new experimental treatment types are being tested in clinical trials.
While survival rates for ATRT have improved over the last number of years, there is still a long way to go, and prognostic factors that affect survival are not yet fully delineated. At Tali’s Fund, we are working to support research that targets safer and more effective treatments for ATRT and other rare childhood brain cancers. One of the biggest challenges for researchers trying to learn more about rare diseases is accessing large numbers of samples to study. Tali’s Fund has helped support the development, expansion and maintenance of the Rare Brain Tumor Consortium (RBTC), a global registry and repository which has brought together more than 1800 patients via more than 150 participating medical centres worldwide. To date, the RBTC has banked over 3000 tumour samples to assist scientists and researchers.
In 2008, we initiated an ATRT study at SickKids Hospital in Toronto under the direction of Dr. Annie Huang. This led to a large global collaborative study, which resulted in the ground-breaking discovery that ATRT is not one disease. 3 subtypes of ATRT were identified, each responsive to different types of drugs. This in turn allowed for the development of an international consensus document for classification of ATRTs. Researchers are now working to develop patient-specific treatments for different ATRT subtypes.
The use of radiation on a young child’s brain can result in devastating, lifelong consequences.
The team of doctors at SickKids Hospital in Toronto has discovered that up to 40% of children can be treated successfully without radiation. This regimen involves the use of intrathecal chemotherapy, delivered directly to the cerebrospinal fluid. Doctors around the world are now using this radiation sparing treatment regimen for some patients with ATRT and are in turn providing data through the RBTC for further study about its effectiveness.
Another promising treatment that is currently being explored for ATRT is a form of immunotherapy that involves the use of chimeric antigen receptor T-cells, or CAR-T cells. These are immune cells engineered to specifically recognize markers on cancer cells and then attack them.
Through the research we support, and through worldwide collaborative efforts, we hope to soon see the day when there will be treatments which maximize the chances of survival for children with ATRT and other rare brain cancers, while minimizing pain, suffering, and toxicity.
Tali’s Fund is the legacy of one very courageous little girl who faced unimaginable pain and suffering, and who fought until her very last day. Sadly, she is joined by other precious children who have been taken from us too soon because of ATRT. Tali’s Fund recently collaborated with Hope4ATRT to create a beautiful video tribute to all these children. The song Beyond the Blue, performed by Kim (Tali’s Mom), was written for Tali by Kim’s brothers, Ryan and Dan Kowarsky, along with Amy Sky Jordan and Stephan Moccio.
We will never forget our ATRT angels. We will keep working towards a brighter future.
To view the tribute video, please click here.
To learn more about the work we’re doing at Tali’s Fund, you can visit our website.
We have put together a list of resources where families can go for additional information or support. You can access this list by clicking here.