The First Time My Son Met Someone Like Him on TLC's 'Two In A Million'
The first time I heard those three words, I was surrounded by physicians explaining this was what our 2-year-old son, Giovanni, had. Even though we knew he had a form of dwarfism during our pregnancy, now we finally had a name. At that moment, I looked at my husband, terrified while he tried to reassure me everything was going to be OK.
Now questions filled my head. What does Schwartz-Jampel syndrome (SJS) mean? How could this happen? Our geneticist proceeded to tell us that Giovanni was a very special case because his genes showed novel mutations, meaning his type of SJS had never been seen before. He then asked us to sign a waiver so Giovanni’s photographs and medical history could be used to teach others about his type of SJS.
I went numb. I was relieved he was finally diagnosed, but terrified he had an undocumented type. Thankfully, our geneticist informed us that SJS was not lethal, but we needed to keep monitoring him medically so nothing life-threating popped up. Whew.
After a few more questions, I asked our doctor if there was a way I could get in contact with other families living with SJS. He told us the chances were slim since SJS is so rare, and that less than 100 cases have ever been reported since its discovery. His hospital had only seen a few cases of SJS up close and told me that he could count the cases on one hand — including Giovanni.
I felt like the wind was knocked out of me. We were alone. Completely and utterly alone.
A few years later I decided to try to reach others living with Schwartz-Jampel syndrome by creating a Facebook awareness page for Giovanni. I needed to talk to someone, anyone that understood what our life was like. Giovanni had already had three surgeries up to that point, and we felt so alone in this battle.
It wasn’t long after we established Giovanni’s page that a message came through from Kimi, the mother of a boy named Owen. There was an immediate connection. Here was a mother feeling the same feelings I was experiencing. She had the same concerns. Our boys looked like twins! I was ecstatic! But, there was a whole ocean between us. Owen and his family live in England and ours is in Pennsylvania. Families like ours are always so tied up with medical costs, I knew there was no way we could afford to visit. There was no way I could hug Kimi and just tell her face to face that I understand. We maintained our friendship though and messaged back and forth. Giovanni and Owen sent videos back and forth. That was all we could do.
Then, a miracle came.
We were contacted by a production company with the concept of the show for TLC’s “Two In A Million” series. Immediately we jumped on it! I remember during our initial call, they asked us if we knew of anyone else with SJS. Giovanni and I both yelled Owen’s name at the same time! None of it seemed real, at least until Owen, Kim, and Will came around the corner. Giovanni was beaming while I was so overwhelmed I began to cry.
Finally, my son could play with a child that was just like him.
Finally, I could hug a mom who understood all the fear, guilt, and sadness I felt regarding my son’s diagnosis.
Finally, we were not alone anymore.
It is amazing to us how natural it all was. Spending a week with them was like spending a week with my family. I don’t think either of our families were expecting the bond that happened almost instantly between us. Giovanni and Owen were playing on the first day like they had known each other all their lives. Owen was the first child Giovanni had really spent time with that uses a walker and wheelchair like he does. Prior to meeting Owen, Giovanni was never interested in using his wheelchair because he couldn’t stand it when people would stare. Owen helped Giovanni get past that. Since Owen is a bit older than Giovanni, Giovanni really looks up to him. If Owen didn’t mind being in his wheelchair, why should he? After that, Giovanni sat taller in his wheelchair.
For me, meeting Kim changed everything. She and I talked for hours and hours about everything to do with the boys and other things. It was so therapeutic and just wonderful to know I could say anything I wanted to say. Kim wasn’t going to judge me. She felt everything I felt too. I was so heartbroken to see Owen, Kim, and Will leave, but I was so much stronger because of meeting them. I was refreshed and ready to fight Giovanni’s next health battle. We weren’t alone anymore.
After the amazing experience we had meeting a family like ours, I am convinced that everyone with a condition, rare or not, should seek out others that have the same condition. The connection you can make with someone who understands you completely is invaluable.
You need someone you can be your whole self with.
A person that can celebrate your triumphs and a person to support you during your struggles.
Someone just like you.