Roya Malaekeh, a mother of three from El Granada, never lets her thoughts wander too far into the future. After her daughter Shadi Bozorginia, who turns 7 this month, was diagnosed with the rare genetic condition of Schaaf-Yang syndrome, Malaekeh has learned to take days and hours as they come.
I’m just looking to maybe look at next week, Malaekeh said. If I go to next year or beyond, there’s a lot 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 in front of the house. Nine-year-old brother Koosha Bozorginia rolled Shadi inside her while Malaekeh supervised 3-year-old Darian Bozorginia, who was gleefully spilling dozens of tiny foam balls onto the dining room floor. Shadi’s thick black hair is pulled back in spiky ponytails and her wheelchair-bound backpack is sprinkled with pastel butterflies. Resting her chin on her right hand, Shadi looks a little tired but serene.
Shadi is a sweet little girl, said Christian Schaaf, medical director and department chair at the Institute of Human Genetics at Heidelberg University in Germany. She’s quite the fighter, she works hard to overcome her challenges and her limitations.
Schaaf, who met Shadi and her family in person, became a namesake of 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 that affects cognition and behavior along with several bodily systems. Currently, Shadi is one of only 300 people worldwide 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 drugs 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 which struggles they consider most significant and which directions of research they consider most important, she said.
Malaekeh said she has found it helpful to focus on one therapy at a time. Food therapy, for example, can wait because Shadi’s school recently indicated that she’s ready to start using a walker.
Schaaf, who said the SYS families have taught him everything he knows about the syndrome, backed Malaekeh’s phased approach. It makes sense for me to take one challenge at a time, he said.
I am very impressed with Roya, he added. She works so hard to help Shadi develop to the best of her potential, and is heavily engaged in the (Prader-Willi Research Foundation) and the SYS community. Especially among SYS mothers, it’s quite the networking hub. So kind, so positive enjoyed by all.
Malaekeh is in regular communication with SYS families and other rares
families who have children with uncommon conditions. Parents share practical information about resources for people with disabilities, and even exchange medical supplies like syringes in case of an emergency. Malaekeh has helped create information leaflets for SYS parents and is involved in the creation of a new website dedicated to the SYS community.
At home with her children, Malaekeh moves through a constant stream of doctor’s appointments and insurance company shenanigans as she tries to cope with moments of disappointment and isolation.
My husband and I lose many friends and miss out on many family outings and business opportunities because we can’t just pick up and go, Malaekeh said. That’s a lot of planning and it’s just not feasible for us.
The neighbors have been a bright spot. During the pandemic, a crew of kids has formed in the lockdown, and it has become a tradition to celebrate birthdays outdoors with a piata. Malaekeh’s neighbor Tara Keith said her 7-year-old daughter made a special request when it was her turn to host a party.
He really wanted to make sure Shadi could participate and so he wanted to get two plates, one for everyone to hit and then one with a rope for them to pull, Keith said. He knew that with support Shadi could pull the string and he wanted to make sure Shadi was included.
It was a really sweet moment, Keith added. I think it definitely helped Roya to have Shadi be a part of this small group of friends. While Shadi can’t communicate verbally, she communicates in many other ways and is so excited to be a part of the things the 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’d modified the switch to connect to an oversized button so that Shadi, a big fan of bubbles, could operate the toy alone. Later after I took Shadis socks off she once she winked at me when I forgot she said
Malaekeh’s mother leaned down and gave her daughter a kiss. Shadi rose after her and stroked her mother’s face.
Thank you for recognizing me, Malaekeh said.
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