Dravet Syndrome

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Neve was diagnosed with Dravet Syndrome following 14 months of very difficult to control seizures and numerous hospital admissions and tests.

Like us, you have probably never heard of Dravet Syndrome and so here is a brief introduction.

 

What is Dravet Syndrome?

Dravet Syndrome is a severe form of epilepsy, which begins in infancy (usually in the first year of life) and affects almost every aspect of a child’s life. Neve was 4-months-old when she had her first seizure.

 

Where does the name ‘Dravet’ come from?

Dravet Syndrome is named after a French Paediatric Neurologist, Charlotte Dravet, who identified the syndrome in 1978. It is also known as SMEI (Severe Myoclonic Epilepsy in Infancy).

 

What distinguishes this form of epilepsy from others?

The most important aspect of this epilepsy syndrome is that infants have completely normal development before the seizures begin but as the condition develops, over months and years, their development may slow and they might even lose skills that they have acquired. Seizures are highly drug-resistant.

 

What causes Dravet Syndrome?

Dravet Syndrome, in Neve’s case, is due to a mutation in a gene called SCN1A. This gene holds the DNA code to make a protein which helps control electrical activity in brain cells. Although this is a genetic mutation, it has not been inherited and has been confirmed as a new mutation that occurred shortly after conception.

 

How rare is Dravet Syndrome?

Dravet Syndrome affects about 1 in 30,000 births and so is very rare. Put another way, if you had 500 children with epilepsy only 1 or 2 would have Dravet Syndrome.

 

How will Dravet Syndrome affect Neve?

Dravet Syndrome leaves children cognitively and developmentally impaired - often severely. There is no way of knowing how severe Neve will be although she is already significantly delayed in certain areas. Children with Dravet Syndrome are also at increased risk for:

* Impairment of expressive and receptive language.

* Pronation of feet which often goes unnoticed leading to painful orthopedic conditions by adolescence; Ataxia and gait abnormality.

* Chronic infection, low humoral immunity, growth, nutrition, and sleep disorders.

* Autistic spectrum, ADHD and other behavioural disorders; familial autism as well as headache and psychiatric disorders have been linked to SCN1A mutations.

 

How can Neve be treated?

The mainstay of treatment is anti-epileptic medication. However, many children fail to respond to standard medications and some drugs can even make certain types of seizures worse. Neve is currently on 2 antiepileptic drugs (AEDs) although still continues to have seizures. When eventually the seizures are controlled, a child is better able to learn and make developmental progress.

 

What other treatments can help Neve?

Early implementation of global therapies is essential. Children with Dravet Syndrome should receive physical, occupational, speech, and social/play therapies and an enriched environment is encouraged. Some parents of Dravet children also use alternative therapies such as Cranial Osteopathy, Homeopathy, Chiropractic, Developmental Therapy etc. (See the Therapies section for further details). There is also a very specialised diet called the Ketogenic Diet which is successful in controlling seizures in some children. Neve started this diet in March 2010 under close supervision of a Ketogenic Dietician and is still on it 41/2 years later. We have seen positive results in this time with a significant reduction in the life-threatening 'grand mal' (tonic clonic) seizures, although she us still troubled by small jerking (myoclonic) seziures.

 

What triggers Neve's seizures?

Neve's seizures can be triggered by bright sunlight (photosensitive epilepsy), over-excitement, over-exertion, flickering leaves, strobing lights, increase in environmental temperature, fever and illness. Sometimes Neve has a seizure and we cannot identify a cause at all. Even something as simple as having a bath can bring on a seizure because she loves the water and gets too excited.

 

What is daily life like for Neve?

Daily life for Neve has been hugely restricted because of her illness. She is unable to do a lot of things that children her age can do: she does not go to soft play centres or public swimming pools because of the risk of infection from other children; she cannot go outside on very hot/cold or windy days because of her environmental sensitivity and her inability to control her own body temperature; she cannot go on foreign holidays due to the risk of seizures whilst flying or ending up in a hospital where they have no knowledge or understanding of her condition. She spends the vast majority of her life at home or at medical/therapy appointments.

 

What does the future hold for Neve?

This question is very difficult to answer as nobody really knows. An individual with Dravet Syndrome has around an 85% chance of surviving into adulthood. Mortality is usually attributed to accident, complications of a seizure, or sudden unexplained death in epilepsy (SUDEP). There is little known about long term prognosis and life expectancy.

 

If you have any other questions about Dravet Syndrome please don't hesitate to get in touch and we will do our best to answer them. Dravet Syndrome UK have recently published a fantastic 'Dravet Family Guide' which can be viewed by clicking here.

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