When our son, Hawken was diagnosed with Duchenne almost 13 years ago, my husband and I felt there couldn’t be too many things worse for a family to experience. In the years since, I’ve met hundreds of Duchenne families and I’ve realized that many parents had a worse experience than we did.
Hawken was diagnosed with Duchenne through a simple blood test. But in order to find out what specific mutation he had, we had to wait for one month to receive the results of his genetic testing, this seemed like an eternity. Unfortunately, many, many families are not able to pay for this sophisticated DNA analysis. And often, the first test is not conclusive, leading to months and sometimes years of delay. Many times, the treating physician is not experienced with the interpretation of the test results.
Today, many of the therapies that are closest to being approved drugs for Duchenne address a specific mutation. Now, more than ever, there is hope…but also a critical need to identify the mutation of every single Duchenne boy as soon as possible. The earlier these children are started on therapies, the better the outcome will be.
Yesterday, BioMarin, announced a new initiative, kNOW Your Duchenne (www.knowyourduchenne.com). The goal of the program is to interpret genetic test results. For those patients whose medical insurance will not cover genetic testing, BioMarin will cover the cost. BioMarin’s experts will also help to analyze and interpret the test results, which can be confusing for those outside of the medical profession and even for physicians that have limited experience with genetic diseases.
If you or someone you know has a child with Duchenne, please refer to www.knowyourduchenne.com. Knowing your child’s mutation will help you understand your options for treatments and improve the outcome for your child.
Our hope is next year at this time, we will have multiple drugs approved and many more in development. In the meantime, CureDuchenne Cares, www.cureduchennecares.org, is traveling across the country to bring physical therapy training for parents, caregivers and professional physical therapists in order to keep our boys walking as long as possible and improve the quality of life for everyone affected with Duchenne.