Our oldest daughter Lola, has a rare genetic condition called Phelan- McDermid Syndrome (PMS). Currently, there are only 1,400 people in the world that have been diagnosed with PMS – although, many believe this number is underestimated due to the large number of people who are un-diagnosed. In any event, based on current data and statistics, Lola is 1 in 5,374,615!
PMS is a genetic condition caused by a variation in the terminal segment of the long arm of chromosome 22. Wait, what? Simply put, it’s a chromosomal variation that could be due to a simple deletion, an unbalanced translocation, a ring chromosome, a genetic mutation or other structural change to the chromosome. In the majority of cases, a particular gene, the SHANK3 gene (which codes for the shank3 protein), is either mutated or deleted as a result of this variation.
To date, most identified cases of PMS are in young children because reliable testing did not start until 1998. However, new genomic testing methods have not only made clinical testing more widely available, but have also led to significant new insights about the role of SHANK3 in PMS and other disorders, like autism and schizophrenia. Individuals with PMS are often diagnosed with autism or autism spectrum disorders. They also frequently have developmental and cognitive disabilities, are nonverbal and have a propensity for seizures and sleep disorders, in addition to many other behavioral and medical issues.
With the odds stacked against Lola and her peers, this is why we need to raise awareness. Is it easy to have a special needs child? No. But Lola has an ability to draw you in with her incredibly telling eyes, she can make your heart smile with her contagious belly laugh and she has a capacity to inspire you with her never-ending determination and persistence, all of which makes us feel extremely loved. Lola’s favorite thing to do is dance and run, especially in her custom leggings. We designed a Love For Lola legging to help raise awareness for Phelan-McDermid Syndrome. All of the proceeds are donated to PMSF.
In 1998 a small group of parents affected by PMS and longing for peer support believed that together they could make a positive difference in the lives of their children. The idea of the Phelan-McDermid Syndrome Foundation (PMSF) grew out of a desire for family support and raising awareness of the rare genetic condition. What started out as a vision by about two dozen families affected by PMS has become nearly 20 years later a vibrant, influential international Foundation working on behalf of more than 1,400 people diagnosed with PMS. Family support was its founding principle, but the Foundation now also funds critical research, raises awareness internationally and mobilizes families to advocate like myself for those with PMS and others in the special needs communities. PMSF is committed to connecting families, researchers, decision-makers and stakeholders and accelerating the search for a cure. Jim and I truly believe in the mission of the PMSF and humbly request your help. Please show your Love For Lola and donate to help us raise critical research dollars. When you donate, you raise critical awareness.
Thank you from the bottom of our hearts.
Jim, Briana, Lola, Sebastian and Wilhelmina
The Phelan-McDermid Syndrome Foundation (PMSF) grew out of a desire for family support and raising awareness of the rare genetic condition. What started out as a vision by about two dozen families affected by PMS has become nearly 20 years later a vibrant, influential international Foundation working on behalf of more than 1,400 people diagnosed with PMS. Family support was its founding principle, but the Foundation now also funds critical research, raises awareness internationally and mobilizes families to advocate like myself for those with PMS and others in the special needs communities. PMSF is committed to connecting families, researchers, decision-makers and stakeholders and accelerating the search for a cure. Jim and I truly believe in the mission of the PMSF and humbly request your help. Please show your #LoveForLola and donate to help us raise critical research dollars. When you donate, you raise critical awareness.
Thank you from the bottom of our hearts.
Jim, Briana, Lola, Sebastian and Wilhelmina
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Family members, volunteers, board members staff and consultants work together to advocate for our rare community. We can’t do it all without your help. As the number of those diagnosed with PMS grows, now at least 1600 cases globally, the demand on the PMS Foundation for engagement and support grows too! We are asking for…
The Phelan-McDermid Syndrome Foundation is funded by donations from families, friends and members. We are transparent about our financial information and we post audits and 990 tax returns on our Web site. Your donations are critical to fulfilling our mission.
The PMS Foundation is:
The Phelan-McDermid Syndrome Foundation is funded by donations from families, friends and members. We are transparent about our financial information and we post audits and 990 tax returns on our Web site. Your donations are critical to fulfilling our mission.
The PMS Foundation is:
The Foundation supports research into related to Phelan-McDermid Syndrome. PMS is caused by deletions of 22q13 and mutations of the SHANK3 gene. PMS is associated with developmental disability, autism, hypotonia and seizures.
Our research goals are to fund projects that increase understanding of PMS and what causes the disease, speed up the development of targeted therapies and improve the care of people with PMS. We seek to fund critical gap areas, through which our investment can stimulate other investments.
In addition to grants and fellowships for basic, translational and clinical research projects, PMSF funds and operates the Phelan-McDermid Syndrome International Registry, a web-based repository of genetic and phenotypic data about individuals with PMS.
We strive for the highest levels of patient engagement, whether through opportunities for individuals with PMS to participate in clinical research studies and clinical trials or by involving families in research projects.
