Coastside family copes with rare genetic condition

Shadi and her dad, Maz Bozorginia, make silly faces at each other as he greets and plays with her after work. May 31, 2023. Anna Hoch-Kenney | Review

Roya Malaekeh, an El Granada mother of three, never lets her thoughts stray too far into the future. After her daughter Shadi Bozorginia, who will turn 7 this month, was diagnosed with the rare genetic condition Schaaf-Yang syndrome, Malaekeh has learned to take the days and hours as they come.

"I try to just look at maybe the next week," said Malaekeh. "If I were to go to the next year or beyond, there's so much more to do that I haven't done yet and it's really hard to think about."

On a recent weekday afternoon, Shadi's school bus from Avalon Academy, a special education school in Burlingame, pulled up outside the house. Nine-year-old brother Koosha Bozorginia rolled Shadi inside while Malaekeh supervised 3-year-old Darian Bozorginia, who was gleefully spilling dozens of tiny foam pellets onto the dining room floor. Shadi's thick black hair is pulled up in spiky ponytails and the backpack hanging on her wheelchair is sprinkled with pastel butterflies. Resting her chin in her right hand, Shadi seems somewhat tired but serene.

"Shadi is a sweet little girl," said Christian Schaaf, medical director and department chair at the Institute of Human Genetics at the University of Heidelberg in Germany. "Quite the fighter, working hard to overcome her challenges and limitations."

Roya Malaekeh (right) and son Darian Bozorginia, 3, greet Shadi Bozorginia, 6, as she is helped off the school bus after a day at school. May 31, 2023. Anna Hoch-Kenney | Review

Schaaf, who has met Shadi and her family in person, became a namesake of the Schaaf-Yang syndrome, or SYS, a few years ago after identifying it as a discrete medical condition with varying levels of severity. SYS is a complex disorder affecting cognition and behavior along with several bodily systems. Currently, Shadi is one of only 300 people around the world who have been diagnosed with the syndrome. She is nonverbal, nonmobile, visually impaired and feeding tube-dependent. She also has growth hormone deficiencies, scoliosis and a sensory processing disorder.

Schaaf said he and other researchers hope to offer first-generation medications within the next three to four years. Their long-term goal, of course, is to find a cure.

"We also want to learn from their families what they consider the most significant struggles and which directions of research they consider the most important," he said.

Malaekeh said she found it helpful to focus on one therapy at a time. Feeding therapy, for example, can wait because Shadi's school recently indicated she is ready to start using a walker.

Schaaf, who said SYS families have taught him everything he knows about the syndrome, seconded Malaekeh's step-by-step approach. "It makes sense to me to take one challenge at a time," he said.

Roya works with Darian on using a communication board while Shadi plays with a toy. May 31, 2023. Anna Hoch-Kenney | Review

"I am very impressed by Roya," he added. "She works so hard to help Shadi develop to the very best of her potential, and she is heavily engaged in the (Foundation for Prader-Willi Research) and the SYS community. Especially among the SYS mothers, she is quite the ‘networking hub.’ So kind, so positive — liked by everyone."

Malaekeh is in regular communication with SYS families and other "rare

families" who have children with uncommon conditions. Parents share practical information about resources for people with disabilities and, in a pinch, they even ship medical supplies like syringes to each other. Malaekeh has helped create informational brochures for SYS parents and is involved in setting up a new website dedicated to the SYS community.

At home with her kids, Malaekeh moves through a steady stream of doctor appointments and insurance company imbroglios while trying to cope with moments of disappointment and isolation.

"My husband and I lose a lot of friends and miss out on a lot of family outings and work opportunities because we can't just pick up and go," said Malaekeh. "It's a lot of planning, and it's just not feasible for us."

Neighbors have been a bright spot. During the pandemic, a crew of kids formed on the block, and it became a tradition to celebrate birthdays outside with a piñata. Malaekeh's neighbor Tara Keith said that her 7-year-old daughter made a special request when it was her turn for a party.

"She really wanted to make sure that Shadi could participate and so she wanted to get two piñatas — one for everyone to hit and then one with a pull string," said Keith. "She knew that with support, Shadi could pull the string and she wanted to make sure that Shadi was included.

"It was a really sweet moment," added Keith. "I think it definitely helped Roya to have Shadi be a part of this little friend group. Although Shadi can't verbally communicate, she communicates in many other ways and she gets so excited to be part of the things that kids are doing in the neighborhood."

Celebrating small victories every day is a must. Standing in her kitchen, Malaekeh pulled a flower-shaped bubble machine out of a drawer, showing how she had modified the switch to connect to an oversized button so that Shadi, a big fan of bubbles, could operate the toy by herself. Later, after taking Shadi's socks off — "She gave me the stink eye once when I forgot," said

Malaekeh — mom bent down and gave her daughter a kiss. Shadi reached up afterward and stroked her mom's face.

"Thank you for acknowledging me," said Malaekeh.

In honor of Shadi Bozorginia's birthday this month, her family will be holding a yard sale to raise money for ongoing Schaaf-Yang syndrome research. The event will be held from 9 a.m. to 5 p.m. on Saturday at the Malaekeh-Bozorginia residence, located at 199 Bridgeport Drive in El Granada.

Roya Malaekeh said she will be giving away raffle prizes and hanging up posters with information about the Schaaf-Yang syndrome and current research projects.

"I’d like to make it a fun event rather than just a simple yard sale, and so I’m sprucing it up with a little something else," said Malaekeh, adding that Saturday's event will be her family's first in-person fundraiser.

Anyone who can't make it to the yard sale this weekend is invited to visit Shadi's fundraising page: impact.fpwr.org/SJJ. Donations go directly to funding research related to Schaaf-Yang syndrome.

April Seager is a staff writer covering events and endeavors in the Coastside community. She received a master of arts in German literature from Brigham Young University and completed graduate work in German studies at Washington University in St. Louis.

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