....from diagnosis to a cure!
On 21st January 2013, 8 days over her due date, and after a difficult labour; Freya was born by an emergency C section. There were obvious problems as she had swallowed meconium which led to her being resuscitated. She was taken straight to Special Care Baby Unit.
" She was put into an incubator and was on oxygen for two days. They then moved her to a normal cot but still in S.C.B.U. She didn't move and couldn't feed, so she had a nasal gastric tube inserted. It was when Freya did not improve that they began to do various test to find out why.
After a month she was allowed home but still with the N G tube. Progress was slow, but eventually she did move onto bottle feeds and a special high calorie milk. The tube was removed at 6 months. A couple of weeks later it was suggested that alongside the milk that she should also be given pureed baby food. She went from strength to strength and was soon eating the same as her peers.
There was still a lack of movement, she could not lift her head or roll over, but with the help of physiotherapy these things began to happen. When she was 18 months old and after many tests the diagnosis was finally made of Congenital Myotonic Dystrophy. We had never heard of it, and was not even aware it was in the family until then.
It was a relief in one way to at last know what it was we were dealing with; but also difficult to realize it was a genetic degenerative muscle wasting disease. Joanne and Danny were tested; with the result that Joanne was discovered to have child onset Myotonic Dystrophy.
Freya is such a happy and loving child, we feel so blessed to have her and love watching her progress. If she wants anything she will get it; it may take time but she refuses to give up.
We do not know what the future holds, but whatever lays ahead we will face with determination to do whatever we can to help. We want to focus on the positives of what can be achieved by Freya and encourage her to realize her dreams whatever they may be.
If our story can help someone in a similar situation realize that they are not alone in what they are facing, it will be worthwhile. We know how difficult it is to come to terms with your child having a disability, but we are determined to do whatever we can to help her, and others with this disease, in any way we can. "
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