Dear Newly Diagnosed Friends,
The devastation that hits when your child, your grandchild, sibling, your niece, nephew, or classmate is diagnosed with a deadly, progressive, rare disease like Duchenne muscular dystrophy is paralyzing. I know because my family and I lived through it on February 13, 2001 when my then 5 year old son Jett was diagnosed with Duchenne.
Like you, my family and I felt completely alone, terrified of what the future would hold for our little boy, and unsure of what our next move should be.
After spending over 16 years counseling and assisting newly diagnosed families as the executive director of Jett Foundation and more importantly a fellow mom, I want to put into words the few pieces of advice I can give you on how to best handle this diagnosis.
- I am very, very sorry that you are reading this. I am sorry that Duchenne has happened to your family and your child. Please recognize that this is the worst day, the worst week, the worst month of your life. Remember that your family and child did nothing to deserve this, and that you as a parent have done nothing wrong.
- Get genetic testing, get a copy of your child’s genetic report, know and understand your child’s genetic mutation. There is not a single piece of information that is more powerful and will have more impact on your child’s future than his or her genetic mutation. With the recent FDA approval of Exondys 51, a targeted therapy that treats the 13% of the Duchenne population amenable to the skipping of exon 51, knowing your child’s mutation may allow him or her access to a safe and effective therapy that could preserve function for years to come. There are also clinical trials that are enrolling patients with different genetic mutations, and trials that are non-mutation specific. If your insurance doesn’t cover genetic testing or you can’t find or understand your child’s genetic report, please go to decode duchenne for free genetic testing and to talk with a genetic counselor.
- With your genetic report in hand, make an appointment at one of the 11 Duchenne certified care centers in the United States. These certified care centers are where you will find the top Duchenne experts in the field, and are sites for many of the Duchenne clinical trials your child may be eligible for.
- Take care of your child, your family, and yourself. Oftentimes, recently diagnosed families jump into fundraising and raising awareness in order to have something productive to do with their time and their grief. My advice to parents is to put your child and his or her care first, then when you have made important medical decisions with the doctors concerning treatment and trial options, try to help the rest of the community.
- Remember that you are not alone. Welcome to the Duchenne community, the club that no one wants to be part of, the club that we are all trying to get out of. Get connected on social media, learn about the different non-profit organizations and the services and programs that are available for families and patients affected by Duchenne, or contact one of Jett Foundation’s Community Ambassadors to talk to another mom or dad of a child diagnosed with Duchenne.
You can and will survive this.