Help Support Sandro's Journey with PKS

Thank you for visiting this page and supporting us. We are the PROUD parents and big brother of an extraordinary boy, Sandro. He was diagnosed with a rare genetic condition four months after birth. This disorder is called Pallister-Killian Syndrome (PKS).

We are raising funds throughout the year to help us pay for all his therapies (MNRI, Physiotherapy, Occupational Therapy, Music Therapy, Speech Therapy, Adaptive Swim), therapy intensives, and, equipment that are helping our son gain muscle tone or some social independence. Hopefully, the end goal is to get him to walk and talk and be as independent as possible in the future.

So far, this journey hasn't been easy for us because as a parent, you never want to see your child go through tough things, but Sandro has taught us never to give up and work hard to reach that end goal. We hope that we can spread as much awareness towards PKS and hopefully be able to change how this disorder is perceived and hopefully help other families receiving this diagnosis.

What is PKS?

Pallister-Killian Mosaic Syndrome or PKS is a chromosome abnormality when a tetrasomy of the short arm of chromosome 12 (12p) occurs for no known reason.

PKS has the following characteristics:

PKS happens randomly and for no known reason. It is thought that there are fewer than 500 diagnosed cases of PKS in the world, however, doctors at Children's Hospital in Philadelphia believe that the incidence of PKS is much higher! They feel there may be as many as 2,000 cases in the United States alone. So why aren't these numbers reflected? There may likely be this many cases, but they are going undiagnosed. The leading cause of these undiagnosed cases is the method of testing. PKS can be diagnosed in utero via amniocentesis, although occasionally, even this has produced a false negative.

After birth, diagnosis is best made by a buccal smear or a skin biopsy. New array blood testing can be very accurate. The blood cells in the body quickly regenerate, and the mosaic cells leave the bloodstream after just a few days, making a diagnosis via bloodwork inconclusive or falsely negative.

With the proceeds we raise here, all will go towards Sandro's therapies and equipment.

Specific equipment/therapy for 2025:

We couldn't thank you enough for taking the time to read our story, for helping us spread awareness, and for helping us help our son!

With love and gratefulness,

Jennifer, Frank, and, Sebastian Romita

Special thanks from SUPER SANDRO!

FYI: December 4th is dedicated to raising awareness for this rare disorder, and our goal is to increase understanding as much as we can. To support this cause, we will organize an annual walk for Sandro & PKS in our community. Given the harsh winter temperatures in Canada, we've chosen to hold the walk in August to coincide with Sandro's birthday. #WeWalkForSandro