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The Special Needs Journey is not one we planned to take..but we sure do love our tour guide-Emma

Our first child, a beautiful daughter, was born on 21 September 2003 –we named her Emma. She was perfect and life was good! On Christmas Day 2003 following a bath,Emma’s right arm twitched for several minutes, but she wasn’t distressed and fed well immediately thereafter. We couldn’t name what had happened then –we had heard of epilepsy, but it had never impacted us directly so we didn’t know any specific details. We were not in Johannesburg at the time and 2 days later upon our return I took Emma to our doctor who advised it was likely a #febrileconvulsion following a warm bath and not to be concerned! Well, that evening Emma had a 15 minute generalized #tonicClonicSeizure.

We rushed her to hospital and that was the first of many nights spent in the ICU!

They ran a multitude of tests, placed her on the first of many drugs to come and we were sent home! However, the seizures continued and each seizure lasted longer and longer. Every week or so –night or day –we would find ourselves racing to ICU with oulittle baby seizing in our arms! We were petrified for her life as every seizure resulted in status epilepticus (a life threatening condition in which seizures last longer than 30 minutes) with some of them lasting as long as 2.5 hours despite being in ICU and Emma’s paediatrician trying everything he could to stop the seizures –on many occasions the only thing which did halt them was anaesthetising Emma.

She had her head shaved on countless occasions so that drips could be inserted in the veins there as the veins in her hands, arms, feet and legs collapsed from the constant battery of drip after drip! Eventually we inserted a central line to have easy access for the intravenous drugs needed to halt her seizures. It was incredibly difficult to watch our daughter endure what she did, but she would always come around with a smile on her face and babble away through the haze of drugs! Our amazing pediatrician, to whom we owe Emma’s life today, realized her condition was more than idiopathic epilepsy and so we visited numerous pediatric neurologists in search of the specialist who would hold the magic key to our daughter’s condition.

The tests were never ending–lumbar punctures, MRIs, EEGs, blood tests, etc., but never anything conclusive came from these, we tried six different drugs in the first two years of Emma’s life –each of which we started with incredible hope that this would be THE drug to bring these relentless seizures under control, but it was not to be and with each new drug came a new set of adverse side effects ranging from increased appetite, reduced appetite,sleeplessness, worsened seizures, hyper activity and so on. We also refused to accept what we were hearing from the neurologists –Emma will never walk, Emma is likely to end up in a vegetative state, and so it went on……

We started physiotherapy to ensure her development stayed on track and she walked at 15 months despite what she was going through; however, we continued our search for a neurologist with whom we felt we could connect and when Emma was 18 months old in 2005 we went to Cape Town to the Red Cross Children’s Hospital where Emma had a 72 hour EEG telemetry. The neurologist was all we could have hoped for and she diagnosed Emma as potentially having #DravetSyndrome, also known as SMEI

(Severe Myoclonic Epilepsy of Infancy). The diagnosis was largely based on significant risk factors for a Dravet Syndrome diagnosis, all of which applied to Emma:

1.Onset of seizures before the age of 1, with development normal until the onset;

2.Prolonged or repetitive early seizures, which can result in status epilepticus; and

3.Early seizures often provoked by modest #hyperthermia (hot bath, physical exertion), vaccines and illness.

It was a relief in some ways to have a diagnosis; however, there was a lot to digest and come to terms with: Emma had a rare, catastrophic, lifelong form of epilepsy which had limited treatment options available. The children with this syndrome are largely medication-resistant and in most cases seizures persist and other comorbidities emerge over time including developmental delay, behavioural issues, movement and balance issues, orthopaedic conditions, delayed language and speech issues, growth and nutrition issues, sleeping difficulties, sensory integration disorders and disruptions of the autonomic nervous system (which regulates things such as body temperature and sweating) –every one of which we have now experienced with Emma to date. In addition, they are at higher risk of Sudden Unexplained Death in Epilepsy (SUDEP) and other causes of mortality include consequences of status epilepticus and accidental death from injury or drowning as a result of a seizure.

Fast forward to present and Emma is now a teenager –13 years old! Through subsequent genetic testing she is confirmed Dravet and despite having tried all the medication options available for Dravet as well as the ketogenic diet for 3 years, we have never been successful in obtaining good seizure control, with Emma experiencing many different types of seizures including myoclonic, tonic-clonic, absence and complex partial. We have also traveled internationally to see a Dravet expert who merely confirmed that Emma’s medical care and therapies received here in South Africa have been top class, the medication recommendations had been what she would have followed, and there was little else she could recommend –an unfortunate reality of Dravet! In addition to the physiotherapy, we commenced speech and occupational therapy in 2005 (all of which she still does today!).

In the key early developmental years, with every seizure, Emma’s body was weakened –she would experience Todd’s paralysis in that part of her body impacted by the seizure and her short-term memory was erased and we would need to reteach her a skill just acquired. She was also dyspraxic and her speech development was delayed. However, she has amazed us all with the skills she has acquired to this day thanks to both her incredible determination and strong, fighting spirit, and the amazing people around her, but there are also areas in which her progress has been incredibly and depressingly (at times) slow –her speech is severely delayed (people unfamiliar with her find it difficult to understand her) making socialization very difficult, fine motor skills are not her forte and certain independent day-to-day functions are extremely hard for her.

Nevertheless, she soldiers on and after a few disasters at various special needs schools (including a period of home schooling) she is finally in a wonderful academy of learning where she has a one-on-one education programme based on the principles of applied behavioural analysis (ABA). Emma’s individualised programme is targeted at assisting her in reaching her full potential and in planning the acquisition of skills which will stand her in good stead in her adult life, although we don’t know what the future holds for her! She has now also been diagnosed with scoliosis and wears a brace at night to halt the progression of this. Her mobility is becoming more impaired, and most children with Dravet develop a crouch gait as they enter puberty; however, we will do all we can to halt this progression.

While in the first 2 years of her life we could not run the risk of travelling too far from a hospital, we did decide that Dravet would not define or determine what our family could or could not do! There is no escaping the fact that having a child with special needs is exhausting and emotionally draining, and having a child with uncontrollable seizures has been very traumatic in many ways –the uncertainty of when and where the next seizure will take place means that it feels like you are permanently living on a knife’s edge awaiting the next disaster! However, my husband and I wanted a bigger family regardless and so we had another daughter, Isabella, when Emma was 4 years old followed by our son, Ryan, 19 months later.

They have been a blessing to our family in all ways –a privilege for Thomas and I to watch their natural and easy development, and Emma’s already very small world would be even smaller without them–they are her best friends whom she looks forward to seeing every day, who read to her, play soccer with her and enjoy sharing a bed with her on the weekends. Her face brightens when they are around.

Emma loves animals (she attends the Badger Club at the zoo once a month), music and all things Disney. She likes to be active and can ride a bike, does swimming lessons and art classes. She is always up for a challenge with some big achievements being snorkeling in the sea and learning to snow ski on one of our family holidays! Emma is a real Dravet warrior –getting up following the countless seizures and asking

what her next meal will be and what she will be doing next! She has taught us the true meaning of grit and determination, of resilience, of unconditional love and of simply enjoying the times you can! I would like to finish off with a quote I recently came across, the message of which resonated with me: The Special Needs Journey is not one we planned to take…..but we sure do love our tour guide

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