emmie 2_000

Emmie's Story

Emmie  fights with her brother, rides her balance bike and she makes sure she gets what she wants.....

"Emmie was born in 2011 via a planned caesarian – everything should have been fine but on delivery she was very floppy and needed help breathing.  She was whisked off to neonatal after I had a brief glance in her incubator. 


I have to say that Princess Anne Neonatal team were fabulous, multiple doctors were called in and they looked at everything from the way she held her hands to how tall and flexible I was.  They did a lumbar puncture and took multiple blood tests.  Finally the geneticist came to see her and after taking note of a series of symptoms, ran them through the database of genetic disorders and a diagnosis of Congenital Myotonic Dystrophy was given. 


Effects of this disorder can be extensive – from heart problems to cataracts to diabetes to learning difficulties.  No one child will experience all problems and no two children will present exactly the same symptoms.


After 19 nights Emmie was allowed home, we knew what was wrong with her but nobody could tell us what this would mean.  For the first 5 months of Emmie’s life, she was like a newborn.  On the one had it was quite nice for visitors who couldn’t come straight away, on the other hand we were wishing her life away as were aimed for each milestone with nervous anticipation.


The next two years of Emmie’s life was a series of appointments, she saw speech therapists, physiotherapists, occupational therapists, paediatricians, ophthalmic specialists, cardiologists, orthopaedic doctors and more.  She was poked and prodded and had to wear a pavlik harness to prevent hip dysplasia and she was a star patient.  At home she was stubborn and strong willed, we have often been congratulated on the good work we’ve done with her but I truly believe it is down to Emmie being determined not to be left behind.


She loves dolls and drawing and is a typical girl, except when she wants to wear her brother’s clothes or dress up as a superhero!  She also gives the best hugs


Does her condition affect her?  Yes!  She has severe speech delay, she has a very strong prescription for glasses (which she has worn since she was 6 months) and if she walks any more than about 10 yards she usually falls over.  Is it going to affect her future?  Most probably, but knowing Emmie as we now do, it won’t stop her doing anything she wants to do. "