M
ama and Papa Said So’s goal in creating a Patient Insights Network (PIN) is to bring awareness to Potocki-Lupski syndrome. This is an extremely rare disease that is typically misdiagnosed until a genetic test is performed. In Potocki-Lupski Syndrome, genetic testing reveals a duplication on the 17th chromosome.
Patients who are diagnosed with Potocki-Lupski syndrome often experience varied symptoms and have varying qualities of life. For some, cases are mild and quality of life is minimally affected, while for others, quality of life is poor and symptoms extreme.
By gathering the experiences of families dealing with Potocki-Lupski, we can increase disease knowledge and help accelerate treatments in the search for a cure.
Mama and Papa Said So is an organization that supports families by providing advocacy and education. Our goal is to provide families with the knowledge to navigate through medical and educational systems. In doing so, we empower them to advocate for themselves and to educate the community at large.
M
ama and Papa Said So’s goal in creating a Patient Insights Network (PIN) is to bring awareness to Potocki-Lupski syndrome. This is an extremely rare disease that is typically misdiagnosed until a genetic test is performed. In Potocki-Lupski Syndrome, genetic testing reveals a duplication on the 17th chromosome.
Patients who are diagnosed with Potocki-Lupski syndrome often experience varied symptoms and have varying qualities of life. For some, cases are mild and quality of life is minimally affected, while for others, quality of life is poor and symptoms extreme.
By gathering the experiences of families dealing with Potocki-Lupski, we can increase disease knowledge and help accelerate treatments in the search for a cure.
Login
Don't have an account? Register below.
SIGN UPLEARN MORE
