Rare Disease Day

Hi, this is Amanda. Today is Rare Disease Day and I would like to share how it personally affects our lives. Jayden was diagnosed 2 weeks after his 1st birthday. We were told he either had Angelman Syndrome or Prader-Willi the day before his 1st birthday. He was hospitalized at a month old for failure to thrive, he didn't get back up to his birth weight. He had difficulties latching on to nurse and we had to hold his chin up when he was drinking a bottle to help him drink. We noticed around 6 months he was a little behind but I thought it was due to prolapsed cord at birth, failure to thrive and he also had a hole in his heart. By 9 months he wasn't sitting so our pediatrician set up therapy. They didn't start therapy until 11 months because the paperwork and evaluations were a long process. I finally said something needed to be done so she sent us to a neurologist and an opthamologist. The opthamologist said he couldn't see at all. He was so farsighted he was also nearsighted. I spoke with his therapist and decided to switch pediatricians. At our first appointment he said Jayden had a genetic syndrome. This is the first time I was told something was actually wrong and he wasn't just behind. We met with the geneticist and he ran test. Our new pediatrician is amazing and if we wouldn't have switched Jayden probably still wouldn't be diagnosed. Sorry this was so long but this past year has been very long! Now Jayden is in PT 3x a week, OT 2x a week, and speech 1x a week. He wasn't doing anything at 11 months old and now he is rolling all over the place, reaching and playing with toys, very close to sitting and he can stand next to furniture when you stand him there. He has come a long way but still has so much to catch up on and work to do. Please check out other blogs about rare diseases today.