Connie’s New Diagnosis

2017 has been the year of big changes for both Connie personally and for us as a family. Up until she was 14, Connie was thought to have autism and life was pretty stable. There was a lot of things we didn’t know about Connie but at that point, there was no huge life-changing things happening to Connie’s life. At 14, she was diagnosed with Rett Syndrome which did change our perspective on life. The Rett Syndrome diagnosis brought about concerns for Connie’s future and her health but for 6 years we lived reasonably well with the only major concern being her weight which was always fluctuating and often decreasing. Rett is a degenerative condition so more serious issues were always on our radar but after 6 years of ‘peace’ we were lulled into a false sense of security.

The arrives 2017. Where the ups and downs of Rett Syndrome collided with a whole new world called ‘Epilepsy’ and we are still reeling from the outcomes. As many of our followers know, this year we have been dealing with seizures. It took from her first seizure in March to the end of October to get a diagnosis of ‘front lobal epilepsy’. The 7  months from the first seizure were filled with clonic-tonics, partials, absences, EEG’s, sleep deprivation – all sorts. We lived (and still do) in a world of waiting for the next ‘event’ to happen.


Her new diagnosis of epilepsy confirms that life has pretty much changed forever. Her neurologist has told us that we will most likely never be seizure free and that it is a case of trying to prescribe the right medication for Connie to keep her safe. Whilst (fingers crossed) the medication at the moment seems to be keeping away the big seizures, we are experiencing more epileptic activity than ever pretty much all through the night and it has even spread into the daytime too.

Along with epilepsy, we are also seeing quite a big regression in Connie’s abilities which is most likely linked to her Rett Syndrome. She finds it hard to stay upright for long periods of time and you can often see her slouching over to the side unable to pull herself back up. Getting up from seats requires help and we think her speech has also slightly worsened. We have an appointment at the Genetic Clinic in Manchester at the end of November to discuss these changes and see where we go from here.

The main thing these 7 months have taught us is that Connie’s life has changed forever and is constantly changing. We are all having to work towards a new ‘normal’ way of life that none of us are used too which includes all different types of medication, first aid and a new way of caring for Connie.

As always, we will keep you up to date with any changes in Connie’s diagnosis but we are hoping that things might start to calm back down at some point … fingers crossed!

Click here to watch our video ‘First Time Seeing A Seizure’

To find out more about Rett Syndrome, click here.

To find out more about Epilepsy, click here.


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