September marked the one-year anniversary since Taruna Reddy and Nicolas Vassalli created the PACS1 Syndrome Scientific Research Foundation.
Taruna Reddy and Nicolas Vassalli created the foundation after their daughter Alya, now 5, was diagnosed with PACS1/SHMS Syndrome.
In one year the couple has built a team of scientists who have begun research and created informative webinars for other PACS1 Syndrome parents, all while continuing with Alya’s many doctors appointments and rigorous therapy schedule.
Alya is the second child of Taruna and Nicolas. She was born at Greenwich Hospital at 39 weeks after a normal pregnancy.
Taruna described those first few days after Alya’s arrival as blissful. They had no idea of what was ahead.
At around 3 weeks they noticed Alya was having some strange shaking movements which Taruna recorded on video and brought to their pediatrician.
“My motherly instinct was strongly telling me she was having seizures,” Taruna said. “We were sent to a neurologist who ran an EEG study, which confirmed Alya was in fact having seizures.”
Taruna said the next day they were admitted to the ER at Cornell Hospital in New York City where Alya was having seizures every 10 to 15 minutes.
Fast forward to January 2017, after years of multiple genetic tests, the Vasalli family finally received results from full exome sequencing via a study from the The Institute for Genomic Medicine at Columbia University.
Alya was given a diagnosis of PACS1/SHMS Syndrome.
Initially it was hard to accept that Alya would not “grow out” of this developmental delay and that she would always have special needs and require lifelong care.
However, Taruna and Nicolas connected online with other PACS1 Syndrome parents. Bonding with these families made the journey easier to endure.
Alya’s parents say everyone who meets her loves her and says she’s a beautiful and special little girl.
She is five now, but has been in early intervention since she was three months old.
Alya currently receives around 30 hours of therapy a week in addition to attending Old Greenwich School Preschool program where she receives additional services.
Taruna gives credit to the dedication of everyone who works with her daughter.
“School has been an incredibly loving and nurturing environment for Alya,” she said. “I am also always amazed by the dedication of her therapists and special education teacher at school. She is also very lucky to have an amazing neurologist at Boston Children’s Hospital.”
Taruna and Nicolas said Alya’s neurological history has been very complicated and her neurologist has been dedicated in his efforts.
Alya has a global developmental delay and has no words yet, but there is hope she will begin speaking at some point. Some of the children with PACS1 Syndrome have spoken their first words at age 8. Recently a girl with PACS1 Syndrome said her her first word at 14. Alya’s family perseveres with therapies, but also hopes that research will result in therapeutics for PACS1.
Immediately after receiving the PACS1 Syndrome diagnosis in January of 2017 Taruna and Nicolas connected with Alya’s grandfather, (Nicolas’ father), Dr. Jean-Dominique Vassalli who has a long career in genetics and holds a PhD from Rockefeller University.
They have also connected with another parent and PACS1 advocate, Farhad Quassem, who was already pursuing ways to initiate further research. Dr. Vassalli reached out to Dr. Sid Strickland at Rockefeller, a colleague and long-time friend, and Dr. Strickland put everyone in contact with Dr. Joseph Gleeson at UCSD.
Together they started the PACS1 Syndrome Research Foundation, with the mission of finding a therapeutic for PACS1 Syndrome.
“The past year has been an incredible experience for me and my family,” said Taruna. “To engage with all these brilliant scientists who understand that time is of the essence and freely share ideas and information with each other. Everyone focusing together on a joint endeavor: finding therapeutics for a very rare disease.”
Taruna said that this particular research is unlikely to make these scientists rich or famous. Also, time is a real issue as they do not know the long-term prognosis of the syndrome or whether there might be a limited treatment window.
When getting started, Dr. Gary Thomas who has been researching the PACS1 protein for over two decades, was incredibly excited to partner with Alya’s team.
Dr. Thomas now has real children who could be helped by his studies. The PACS1 team also engaged Dr. Nicholas Katsanis, a passionate scientist who runs the Center for Human Disease Modeling at Duke University.
The PACS1 Syndrome Scientific Foundation has already made progress with their research, working towards the goal of finding a therapeutic that can benefit Alya and other PACS1 children. They hold hope that their research might include a prototype that could work for other similar single gene mutations/rare diseases.
“Rare diseases are not so rare,” Taruna said. “One in ten people have a so-called ‘rare-disease’ and we believe that the way forward for genetics is to explore therapeutics for all genetic syndromes, whether it be through gene therapy, small molecules, or other advances in the science of genetics.”
For more information about the PACS1 Syndrome Scientific Research Foundation visit www.pacs1foundation.org and for more information on the support and awareness group that welcomes new PACS1 Syndrome families, visit www.pacs1smiles.org.