When we were 20 weeks pregnant with Jaxon we received the news that he had the same gene as his sister. She passed away at 6 months in 2016 due to the condition.
Because we had experience with the condition we knew what support Jaxon may need upon birth. At the beginning he needed a bipap machine to aid his breathing, slowly he began to come off the machine and self-ventilate from 8 weeks old. At 12 weeks of age we had a sleep study which showed Jaxon needed to use a bipap through the night due to CO2 levels, he could not expel enough CO2 himself. We began using a bipap ventilator straight after his operation for his gastrostomy.
Jaxon was also born with extra fluid around his brain which we continue to monitor with MRI scans. Jaxon is unable to swallow so needs to have his secretions suctioned out around 50 times a day and he is peg fed only. He has lots of trouble with his chest and frequently spends time in hospital due to infections. Jaxon is unable to sit as his muscles are very weak in this area and it causes him to drop his oxygen levels, because of this we are thinking about a tracheostomy. He spends most of his day laid flat but does try in his special chair 3 times a day. He did 30 mins last week in one sitting which is amazing for him. He is a very strong little boy who, even with all his struggles, continues to learn new things each day. His legs and arms grow stronger day by day and he can now lift some of his toys above his head. He is beginning to try to say words like nana and dadda but is yet to learn mamma.