SAMD9L: Finding Answers and Community

When 6‑year‑old Yara twirls across the floor at her church dance class, she looks like any other happy first grader. She is full of energy, imagination, and joy. Yara loves art, Barbie dolls, dress‑up clothes, and all things girly.

What many people do not see is what her family has faced over these last few years. Along the way, they searched for answers and found a global community of families who share the same rare diagnosis: SAMD9L syndrome.

St. Jude Children’s Research Hospital is an internationally renowned research and treatment center for bone marrow failure syndromes. Here, treatment is tailored to every patient. Marcin Wlodarski, MD, PhD, director of the Bone Marrow Failure Clinic, leads research on this disease.

Wlodarski’s team helped discover the gene changes that cause SAMD9/SAMD9L syndrome. They also created an online SAMD9/SAMD9L mutation registry that lists reported cases, including the gene changes and symptoms seen in each patient.

A path to answers

In late 2022, Yara and her younger sister both caught respiratory syncytial virus (RSV). Her baby sister recovered in just a couple of days, but Yara did not. Her symptoms lingered and raised new questions. She was even hospitalized as doctors searched for a cause.

Yara’s doctor did not give up on looking for answers. The search led to St. Jude, where genetic testing provided the diagnosis: SAMD9L syndrome. This rare disorder is caused by a mutation (change) in a gene affecting bone marrow function.

Yara’s mother Brittany remembers how overwhelming those early days felt.

“It was a lot to learn,” she says. “In the beginning, it was like, ‘What is this?’ and ‘How did she get it?’”

In patients with SAMD9/SAMD9L syndrome, the bone marrow cannot make enough blood stem cells. All blood cells start out as blood stem cells. Sometimes, the condition gets better on its own. Other times, it can affect other organ systems or develop into leukemia. 

Neither of Yara’s parents carried the gene mutation. It happened on its own, making Yara the only person in the family with the condition.

Finding a care plan

Because the family lives in Memphis, St. Jude was close by when the diagnosis came. Her care team decided to transfer Yara to St. Jude for specialized blood disorders treatment.

Treatment for SAMD9L varies from child to child. For Yara, it has meant platelet and blood transfusions when needed. For some patients, the long-term cure may be a bone marrow (stem cell) transplant.

Read about another family’s experience with SAMD9/SAMD9L syndrome.

Yara remains in what her family calls a “watch‑and‑wait” phase, hoping that Yara’s body will heal itself. Based on a large study led by St. Jude, we know that many of patients with SAMD9/SAMD9L syndrome can undergo genetic rescue in their blood stem cells. This is a form of natural gene therapy where the SAMD9L mutation is cured and blood counts become normal again.

 Amazingly, Yara has been stable for nearly 3 years.

She now comes to St. Jude once a year for a bone marrow aspiration and biopsy. Other visits take place only when fever or illness appear.

“For the most part, she’s OK,” Brittany says. “We have some hospital stays, but then we’ll go months and she’s just fine.”

A conference for SAMD9 and SAMD9L

Year before last, Brittany and her husband, Yuri, attended the SAMD9 and SAMD9L Virtual Patient Conference, an international meeting to unite families facing these lesser‑known disorders. The goal of the conference is to advance knowledge about SAMD9 and SAMD9L and to bring together patients, scientists, and clinicians.

“There’s not another conference like this where people affected can come together,” says meeting organizer Jessica Uhrich. “From patients and caregivers to researchers and treating physicians, everyone has a chance to learn something about these newly discovered disorders.”

For Uhrich, one of the most beneficial parts of the previous conference was the connections made between patients.

“I felt like families really cherished being able to speak to other people who were going through what they were,” she says.

For Yara’s mom Brittany, the meeting was a turning point.

“It was really insightful,” she says.

Care providers had told the family that SAMD9L could affect Yara’s nervous system. Yara had undergone MRIs for years before she was finally able to stop. Hearing other families speak—parents of newly diagnosed children, caregivers sharing their experiences, and adults living with the condition—helped Brittany and her family connect the dots.

Yara often says her legs hurt, something Brittany never realized might be related to her condition. Listening to others talk about similar experiences gave her clarity and reassurance.

“It allowed us to see what everyone is going through and how Yara’s experience connects to what everyone else is saying,” Brittany says.