BiographyWhen James was born we noticed his face was slanted and he had a tiny hole in the bottom of his spine. My local hospital where I had James dismissed this even tho I asked what was wrong. I spoke to the midwife the next day who came to see us at home and she sent me to my GP who later done swabs and sent us to Birmingham Children's Hospital.
So the tests began: MRI, bloods, X-rays, one after the other. James developed a sucking problem around 2 weeks old I was told by speech and language it was reflux. I knew this wasn't reflux. I pushed and pushed for help with this and no one would help. In the meantime it came back that James had hydrocephalus so he was then sent to another neurologist who then saw James every 3 months who arranged James with genetic testing.
At this point James wasn't doing what most babies do: he never sat up. Then the chest infections started more tests was done everything was coming back normal except X-rays showing clouding on lungs. James was having physio every 2 weeks to help his muscle tone and tortacollis he had been diagnosed with. Through the next few months everything was a blur, every hospital appointment got worse we was being told James had other things wrong with him.
At 10 months old we was told James had bilateral hearing loss (till this day, it's not been fully confirmed as we have seen so many people and James is scared of the machines that they use) and he finally sat up unaided. We reached James first birthday and not long after we got the diagnosis of xq28duplication. Since then we have had GDD delay diagnosed as he is behind especially with speech which he only as around 6 words now.
We recently found out James has a swallowing and esophagus problem which we are still undergoing tests for as we know his esophagus is not working properly. He continues to have reoccurring chest infections and has azithromycin 3 times a week. He has around 4 hours a day sleep and on melatonin. He has thickener in fluids and a soft diet to help with his feeding and swallowing problems he still don't eat and losing weight we are currently waiting to see other doctors about this. We are currently waiting assessments for OCD, ASD ADHD and sensory processing disorder.
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