My son was diagnosed with Joubert syndrome half way through my pregnancy. My doctors informed us that something odd appeared in the ultrasound.
That was when we were told that he also had a heart defect and heterotaxy. When he was born we also found out he has extra digits on his hands and left leg. It has been a challenge for my boyfriend to adjust because, to him, it is new to deal with oxygen tanks, a gtube feeding schedule, and other possibilities that can come with this syndrome.
For me it’s a bit more of the norm since my brother and cousin also had this. The biggest challenge for us was when my son stopped breathing due to him having apnic episodes which is also due to the syndrome. It was hard seeing him intubated and the doctors telling us that he might need a tracia. Luckily they placed him on caffeine citrate which has helped and he is on it at home and is breathing greatly. We have hope because despite all of the things that could affect my son I hope that he will be able to have as normal a life as other kids because I don’t want to see him suffer and struggle.
The main thing that I have learned from my life time expreince is that kids who have this syndrome bring so much love and happiness to our lives and they teach us so much about them and our selves. As long as my little man keeps fighting to grow and develop I have hope that he will do great and not let the odds win.