Kindergarten Adventures Begin for St. Jude patient Yara

Yara, a spirited 5-year-old, was looking forward to this August day. She was starting kindergarten at her siblings’ school, and she could not contain her excitement. 

Yara wore her school uniform, a khaki skirt and purple shirt, and added matching purple ribbons in her hair. She arrived at school with a big smile and her dad, Yuri, who took pictures before Yara walked into the brick building with a large “welcome” sign by the entrance.  

Her mom, Brittany, was happy too, but cautious and holding her breath. Yara’s backpack, decorated with pink and red hearts, contained her school supplies: pencils, crayons and glue sticks. Her mom though added some hand sanitizer and said a few prayers. Brittany asked God that her daughter have fun on her first day — and not get sick. 

“She hasn’t been sick in several months. She has been excited about school and I want her to continue to go without huge breaks,” Brittany said. “I’m holding my breath and hoping this year is better.” 

When Yara was in pre-K last year she was forced to miss class for weeks at a time when she caught a cold or other virus. The school was a lot smaller, so it was easier for Brittany to let parents and administrators know what was going on with Yara and to remind them of the importance of handwashing around her little girl.  

“Now she’s in a school with hundreds of students, so it’s a different feeling,” Brittany said. “We are waiting and hoping that she just does not catch the flu or a common cold or anything like that, because that basically affects her [blood cell] numbers drastically. She can have an adverse reaction to a common cold.”    

When she was just 3 years old, Yara was hospitalized after an RSV infection led to a range of complications, including pancytopenia, a condition that meant Yara’s levels of red blood cells, white blood cells and platelets were all too low. With each new infection, Yara would spike fevers and experience illness. After tests revealed that her bone marrow was hypocellular — lacking stem cells —  Yara was transferred to St. Jude for treatment and monitoring. 

At St. Jude, doctors continued to monitor and treat Yara’s symptoms with antibiotics, steroids and transfusions of red blood cells and platelets. They also searched for the cause. At times, Yara’s condition would improve, and then she would be ill again. She was experiencing bone marrow failure: Her bone marrow was not producing enough blood cells.  

After genetic testing revealed a mutation to the SAMD9L gene, doctors diagnosed Yara with SAMD9L syndrome. This rare condition, along with the similar SAMD9 syndrome, affects the bone marrow’s ability to produce healthy cells. 

Yara’s doctors realized viruses induced her cytopenia — low levels of red blood cells, white blood cells or platelets. Infections such as RSV, rhinoviruses (cause of the common cold) or influenza would trigger episodes during which she lost healthy stem cells. This finding explained why Yara’s condition would improve and then suddenly get worse. 

St. Jude is leading research into SAMD9L syndrome, and has hosted two international conferences on SAMD9 and SAMD9L syndromes. The clinical trial in which Yara is enrolled collects blood and bone marrow samples for future research into non-cancer blood disorders. That research is overseen by Marcin Wlodarski, MD, PhD, who has also led the development of a patient registry and mutational database. The goal of this research is to understand these mutations and syndromes in ways that will help provide better treatment and outcomes for future patients, ultimately with the hope of finding a durable cure.

Since SAMD9L syndrome is unpredictable, doctors monitor Yara closely. The course of this disorder varies from person to person. Some patients may experience a spontaneous improvement in their blood counts, and even a natural recovery. However, for others, the bone marrow failure can worsen over time, and they might develop a condition that can progress to leukemia, a type of blood cancer. Whenever Yara has a fever, she must go to the hospital, her mom said. She also returns to St. Jude for regular checkups. 

At home, Brittany makes sure that Yara gets a good night’s rest because that helps her body stay healthy. 

“I just make sure she is well rested, more than anyone else in the house,” she said.  

Brittany said living in Tennessee she knew about St. Jude prior to Yara’s diagnosis and had even supported fundraisers for the research hospital. But she did not know that St. Jude treated children with illnesses other than cancer. Brittany now understands research and treatment for pediatric catastrophic illnesses are cornerstones of the St. Jude mission. In fact, St. Jude is the hub for treatment of pediatric patients with non-cancerous blood disorders in the local area surrounding Memphis.

“You learn as a patient how amazing the research is,” she said. “They say it takes a village to raise a child. St. Jude is part of our village, and they are the healthcare part of our village. We can just make sure she is happy, and they make sure she’s healthy.”  

Yara, the middle child of 5, likes art and all things girly, including playing with her dolls with her sisters. She also enjoys getting her hair and nails done. And she likes to travel with her family. Her favorite destinations are anywhere with sand and water, her mom said. 

During the first week of school, Yara made new friends, colored, and practiced writing her name, letters and identifying shapes. She is looking forward to field trips with her class, including to an animal farm.