Thanks to this blog I’ve got to meet a lot of inspiring people. New families reach out, usually when they just learned about the Usher diagnosis. They are searching, hoping that they are not alone in this. Just like me 3 years ago. That’s the reason why I started Ushermom. I am still so happy that I did and grateful for every person that finds their way to the blog.
The story of Justin and Rosalyn from San Francisco is our story. Their daughter Lia was diagnosed with Usher 1B when she was 5 months old. The first time we spoke was emotional, it brought back so many memories for us. But as with many other Usher parents, there’s an instant connection. The mutual understanding of fear and grief. The not knowing, the uncertain future, the future that you envisioned so differently for your child. But these parents were also determined. Justin could tell me more about ongoing Usher 1B research than I had ever find myself. He had spoken to every doctor, every researcher that mattered. And what he told me kept me awake that night, because it wasn’t very hopeful.
There are three clinical types of Usher syndrome, caused by at least 10 different genes. All these different gene mutations play a role and that makes it so difficult to find a cure for a specific type of Usher syndrome. Every type, caused by a specific gene mutation requires a different approach. It’s also a rare disease, the number of people that will benefit from a treatment is low compared to let’s say diabetes, cancer or Alzheimer. Investing millions in developing a treatment that will only only help a few people is just not profitable for a pharmaceutical company. I get that. It’s pure economics. But a mother’s heart isn’t based on economics. My heart sees my son, struggling with his hearing, struggling with his balance, he’s so dependent on his vision. He needs his eyes to compensate for the loss that he experiences every single day.
How can we be dependent on pharmaceutical companies to win this race against time? Are we just going to stand by and watch, waiting for this treatment to magically happen? What if the science is there, but the funding is not? More sleepless nights. We need to get involved, that was our conclusion. We need to fund specific Usher 1B research ourselves. For Lia, for Jackson and for all other people with Usher 1B. Time isn’t on our side, we have to act now, enter SAVE SIGHT NOW.
SAVE SIGHT NOW is a charitable organization in partnership with the Foundation Fighting Blindness (FFB) to raise funding for leading medical research that can benefit Usher 1B patients. We have partnered up with the FFB in order to further our reach and audience, as well as leverage the experience and wisdom of their unparalleled scientific advisory board. As parents with limited resources we felt it was best to foster a partnership with an established organization so we can focus our energy and efforts on fundraising. Justin and Rosalyn successfully hosted a first crowdfunding that raised $150,000. Our goal is to raise $2,000,000 in the next three years. Dream big, right?
Today is our 4th Usher Awareness Day. A day I wish I did not need to know. But I am grateful for meeting people like Justin and Rosalyn. Their drive is empowering me. My son empowers me. He amazes me every single day. More than ever I try to think in possibilities instead of limitations. But I also know that time isn’t on our side and with every day that goes by, Jackson and Lia lose more vision. I need to believe in a treatment for Usher 1B. I believe in SAVE SIGHT NOW.
Willem and I have lots of plans on how to get your attention (and money) for SAVE SIGHT NOW. Watch this space for more info soon. If you want to get involved yourself please contact me or justin@savesightnow.org. You can find more info on the researchers we want to support on right here.
