As a mom with a child who has an inherited retinal disease that also happens to be considered an orphan disease because so few people in this world have the same disease, it can be hard. Who do you turn to when your child has been diagnosed? Who do you go to after each and every visit to the retinal specialist/ophthalmologist that lasted for hours because so many tests were needed? Who do you go to when you need advice on if you need a 504 plan or an IEP at school so your kid gets the proper accommodations? Who do you go to when you've done everything right and the school still doesn't meet the required accommodations? Who do you go to when you're just plain pissed that this happened to your child? Who do you turn to when it's time to start thinking about college or a career for your child? Who do you turn to when your kids have those moments when they are upset because they got stuck with one of these stupid diseases? Who do you turn to when you need help trying to ensure that your child doesn't let this disease make him/her feel like less of a person and you want to be the voice of encouragement? Who do you go to when you want to cry but you can't let your child see you cry because you're the voice of encouragement?! Where do you turn when you want your child to have a role model who can prove to them that he/she can still be happy and successful despite this disease and perhaps they can channel the strength it takes to overcome obstacles because of this disease to actually become stronger for it?
I've asked all of those questions many times over the last nineteen years. In the beginning, there was really only one person I could go to, my mom, since she had two sons (my brothers) with the same disease as my son. She gave great advice but the world was a different place back then. There was no hope for cures. There was no social media. There was no community building for rare inherited retinal diseases.
Ten years ago, I joined a local chapter of Foundation Fighting Blindness, and the world changed for me and for my son. Today, I went to a local meeting and felt like I was with an extended family. The main mission of Foundation Fighting Blindness is to raise funds for research. MOMS for Sight, Inc. shares in that mission. However, both the local chapter and MOMS for Sight also focus on providing support whenever and however we can. Today, gene therapies are literally in approval phase with the FDA (Keep your news alerts on for January 12 and the FDA for the Spark Therapeutics gene therapy for Leber's congenital amaurosis RPE65 gene. If that goes through, we are on our way to gene therapies for all of these inherited retinal diseases!).
In today's meeting, we had some new attendees whose children have been recently diagnosed or are still looking for a diagnosis and need genetic testing. I saw one mom who brought her seven year old son to the meeting with her and it reminded me of when I brought my son ten years ago to meetings. He was nine. I truly believe that our local chapter has helped him become a much stronger person. Our local chapter has provided him with resources, role models, introduction to an amazing doctor who got him introduced to some other amazing doctors all working on a cure for his disease. It also gave him the chance to learn leadership skills (he has spoken at many events and became youth chair and then co-chair for our annual VisionWalk). He became his own biggest advocate for what he needed to succeed. Now, he's at the University of Central Florida in their Aerospace Engineering program. How many legally blind Aerospace Engineers do you know? You'll know one in a few years when he graduates!
Social media has also been huge! I have friends that I've never met around the world who share in the same struggles and triumphs. Foundation Fighting Blindness has bi-annual conferences and I've been fortunate enough to meet some of these folks face to face. This year, their conference is in San Diego in June of 2018. I hope to meet some more if I am able to make it.
So, who do you go to? Go to Foundation Fighting Blindness. Find out if you have a local chapter. If not, find the closest one and they can still get you connected to people that can help. You can also come to MOMS for Sight anytime! We are all in this together and nobody should feel like they are dealing with this alone.