When you first find out...

So, I always knew I had the chance of passing X-Linked Juvenile Retinoschisis to my son if I had one. After all, my brothers have it and my cousin has it. Basically, any male in my family who could get it, got it. There were different levels though. One brother was legally blind in one eye, the other legally blind in both. I think my cousin was pretty close or legally blind in both.

The minute I knew I was pregnant, I wanted to know if I was having a boy or girl, not just out of curiosity, but also for the fact that boys display X-Linked Juvenile Retinoschisis and girls only carry it. I found out I was carrying a boy. My husband loved baseball. He couldn't wait to hear that he was having a boy. In my heart I knew that if I was having a boy, baseball might not be an option. I tried to tell my husband not to get his hopes up. Playing baseball with X-Linked Juvenile Retinoschisis would not only lead to teasing (like I saw a boy do with my older brother and vigorously tried to defend him by hitting the boy with a baseball bat - which only led to us both running home in fear for our lives), but it could also lead to damage to the head and retinal detachments. 

Anyway, I asked my OB/GYN how I can check to see if the baby was going to have this disease. She asked me, "What does it matter at this point? You're pregnant." I realized that she was right. No matter what the circumstance, we would learn to deal with it and love the beautiful baby we were about to have.

My son was born in September and it took us about three months to find a doctor in Jacksonville that knew how to diagnose X-Linked Juvenile Retinoschisis. Once we found him, we were hit with the news that the 50/50 chance my son had of getting this disease totally didn't work in our favor. After a painstaking four hours of diagnosis, metal clips that held his eyes open, and many screams from my precious baby, we learned that he had the disease and he had it pretty bad. The doctor drew out a picture of where the cysts were in my baby's eyes. He explained that my son would be lucky to have anything close to normal vision but that we really wouldn't know until he was older and could take more tests. 

My husband couldn't even stay in the room to hear the screams of his son. Once he heard the diagnosis and his dreams of a baseball playing son immediately vanished, then came the blame game. Not to say my husband blamed me. I think he just blamed himself for marrying someone he knew had the possibility of carrying this disease. 

Regardless, he loves his son very much. He's not my husband anymore though. 

I guess I took a different approach. Number one. Never let my son feel sorry for himself. Number two. Never let him use his visual impairment as an excuse. Number three. Fight to do whatever I can to end this disease and help raise money to find a cure for my son. Number four. Make sure my son, nieces and nephews NEVER have to go through the moment a parent finds out their child has a blinding retinal disease. Number five. Find others out there like me because I knew I couldn't deal with this alone....

Blog number one. That was just when my son was a baby. He's 14 now so I have many more blogs to come. I welcome any comments or contributions to the blog from other moms, dads, kids with retinal degenerative diseases (regardless of your age), grandparents, you name it...