The Diagnosis

 

“Starting from the end of October until late November 2023, we took Paislee to the pediatrician, urgent care, and the emergency room for a consistent fever. Each time, we were told it was her ears, a viral infection, or constipation.” Kristen, Paislee’s mom shares how they struggled to find answers in the beginning when she first began exhibiting concerning symptoms.

“We kept pushing for someone to listen.”

   November 26th, 2023, Kristen took Paislee to the emergency room, where she was admitted for high levels of calcium.

“Two days later, while changing Paislee’s diaper, I felt a hard lump on the lower right abdomen and called for help. She was immediately taken down for a STAT CT scan, and we learned she had a cancerous tumor. Paislee had surgery to remove her left kidney along with the tumor, which was sent off for testing.”

    December began and it was confirmed that Paislee had a malignant rhabdoid tumor.

 

 

What Are Rhabdoid Tumors?

   Rhabdoid tumors are aggressive cancers that primarily affect babies and young children. Although they most commonly begin in the kidney, they can also form in soft tissues or other organs, and even in the central nervous system (brain and spinal cord). When the tumor occurs in the central nervous system, it’s referred to as an atypical teratoid rhabdoid tumor (ATRT).

      These tumors are notorious for their aggressive nature and resistance to treatment. The swift, uncontrolled growth of cells in rhabdoid tumors makes them extremely difficult to manage with conventional treatment options.

 

 

Symptoms of Rhabdoid Tumors

   Depending on the location and size of the rhabdoid tumor symptoms may vary but can include fatigue, irritability and weight loss. For those located in the kidney, blood in the urine (hematuria), difficulty urinating, abdominal pain and swelling of the abdomen can occur.  [Learn more HERE.]

 

Genetic Causes of Rhabdoid Tumors

     Recent studies have identified certain genetic causes of rhabdoid tumors, including mutations in the SMARCB1 gene, also known as INI1, SNF5, or BAF47. This gene is a tumor suppressor gene that produces a protein helping regulate cell growth. When this gene mutates, tumor cells grow uncontrollably, leading to the development of rhabdoid tumors.

    In addition, mutations in the SMARCA4 gene have also been linked to rhabdoid tumors. When this gene mutates, it allows tumor cells to proliferate unchecked.

    Understanding these genetic factors can help inform treatment decisions and possibly provide insights into potential future therapies. 

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Want to learn more about Genetics?

    Joyce Turner, MS, CGC, Director of the Cancer Genetic Counseling Program of Children’s National in Washington, DC breaks it down into bite size pieces in the webinar below.

It’s not just about Wilms tumor, but knowing how to advocate for the testing your team should be collaborating on getting for your child.

 

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   Elevate is grateful to Kristen and the Bussell family for sharing their diagnosis experience with us this March, to help educate others on Rhabdoid tumors. Their beautiful family was also eager to share Paislee as an Elevate kid last month, on what should have been her second birthday. We mourn the loss of another beautiful child from kidney cancer, but encourage you to read more about this affectionate, spunky and bubbly girl that will forever be loved and missed. If you are able to donate in her honor it will help fuel the progress our children are so desperately in need of.

 

    At Elevate we will continue to share stories from families like the Bussell’s to spread awareness of the needs of those diagnosed with pediatric kidney cancer, and make sure that advocates have access to high-quality educational materials so that we can all be a part of dramatically improving and saving the lives of those diagnosed with childhood cancer. Because all families deserve to see their children grow up.

 

 

 

 

 

  Join us as we dramatically improve and save the lives of those diagnosed with childhood cancer and learn more all month long during Kidney Cancer Awareness Month. 

 

 

Empowerment. Advocacy. Progress.