It’s time to let the world get to know our amazing rare advocates! Each week I will be highlighting an advocate here in my blog as well as social media. If you would like to be featured in the spotlight, please click here.
Sandra Sermone
Parent Advocate | ADNP Syndrome
About Sandra:
- Founder/President of ADNPkids & ADNP Kids Research Foundation
- From Brush Prairie, Washington
- Contact info: Email | Facebook | Twitter | Website
- ADNP Syndrome affects approximately 6200 people worldwide
Why did you become an advocate for your rare disease community? What was happening in that community that made you want to take action?
When my son was diagnosed, there was no community. There was no name, no protocol, no information, no support group, there was nothing but one document. But I was told there where others so I began looking for them all over the world. As soon as I talked to 2 other Moms, I knew I was no longer alone, so I started a support group. That turned into research projects, and and informational website so that when families recieved their child’s diagnosis, they have a place to find accurate information and a community for support. That turned into more research projects, a foundation, U of WA announcing a clinic and a potential drug trial out of Israel. Now I want to work to help legislation better benefit Rare Disease organizations and projects like ours and to spread awareness of this incurable and heartbreaking genetic syndrome.
What was your first success or defining moment as a rare disease advocate?
A parent thanked me for making the support group and told me that they no longer felt alone because they found their “tribe”. I realized I had created a family, a great big supportive ADNP family!
Share some of your biggest accomplishments as a rare advocate?
Finding almost every single child diagnosed with the syndrome. Creating a place for parents to share information and support one another. Creating an informative website and a foundation. Discovering an important biomarker that is going to help children get diagnosed at a very young age, finding a specialized speech therapy that is more successful and now working with Legislators support rare disease.
Share some of the hard realities you faced advocating for your rare disease.
It’s shocking to see how many fabulous opportunities there are for rare disease groups, but not having any connections or funding, we are having a hard time finding out what to do next. Getting US involvement started on research when the syndrome was discovered in Europe but now is at a standstill. Having Universities want to do treatment studies but can’t find funding.
What project(s) are you working on now for your community?
We have a drug in the Pipeline with Coronis Neuroscience based out if Israel. We are working on involving NIH and a large ASD organization to start Phase 1. Getting our foundation up and generating income. Working with University of Washington to open the first ADNP clinic in the near future and with OHSU to possibly open an ADNP research center.
What advice would you give to an advocate just starting out?
Reach out to the people who discovered the disease, syndrome, gene, etc. offer to help, get into studies, involve yourself and do lots and lots of research. Drink a lot of coffee and become your child’s medical detective. Dont ever give up, if you feel like you need to do something in your gut, do it! You can’t go wrong.
Why do you find working with advocates from different disease groups beneficial?
Because they have been where I am now. They have experience, knowledge, are caring and understanding. They inspire me to do more.
