Dravet syndrome is a rare and severely disabling type of epilepsy

WHAT IS DRAVET SYNDROME?

Dravet syndrome is a rare and severely disabling type of epilepsy presenting in infancy, sometimes called a catastrophic epilepsy. It was first described in 1978 by Charlotte Dravet, a paediatric epilepsy specialist working in Marseille. Other names that have been used for the condition include Severe Myoclonic Epilepsy of Infancy and Severe Polymorphous Epilepsy of Infancy.

A ‘syndrome’ is a group of signs and symptoms that, when considered together, suggest a particular medical condition. An epilepsy syndrome is diagnosed from the combination of age of onset of seizures, the different types of seizures, how they change over time, findings on EEG tests and other features such as behaviour and learning. As such, epilepsy is just one part of Dravet syndrome; there are various other health conditions and symptoms, which are often found in children with the condition.

Dravet syndrome is rare with latest research showing it affects approximately 1 in 19,000 people. Normally, the first seizure takes place in the first year of life; three-quarters of these seizures accompany a high fever caused by an illness. Sometimes, if a child has a fever caused by immunisation, this might be associated with a seizure. At first, doctors may diagnose a one-off febrile convulsion (a ‘fit’ that a child might have associated with a very high fever). Febrile convulsions are fairly common and, while very alarming for parents, most children tend to have normal development and have only one or very few seizures restricted to early childhood. However, with Dravet syndrome, other seizures follow, increasing in severity.

Seizures in the first year of Dravet syndrome are often clonic (jerking movements), prolonged, and tend to affect one side of the body.

The child’s development during the first year of life is usually normal; after this first year, a range of seizures may appear including:

  • Myoclonic seizures, single or multiple muscle jerks, which may involve one part of the body or the whole body
  • Atypical absences (where the child will stare) with brief loss of awareness
  • Focal seizures, which may involve loss of awareness
  • Non-convulsive status where the child develops a groggy, poorly functional state
  • Serial seizures or status epilepticus, a prolonged seizure or a cluster of shorter seizures with little or no recovery in between.

Patients with Dravet syndrome are particularly prone to status epilepticus, therefore swift medical intervention is essential to stop the seizure as soon as possible to reduce the risk of damage to the brain or breathing problems caused by a long seizure.

From the second year onwards, the child’s development slows down or regresses, sometimes severely. Features of autism and attention deficit hyperactivity disorder (ADHD) are common.

Dravet patients often experience mobility issues, in particular with regards to an unsteady gait called ataxia. Some patients are affected severely, whilst in others the problem may be less severe.

WHY DOES MY CHILD HAVE DRAVET SYNDROME?

About 80% of patients with Dravet syndrome have a mutation (or change) in a gene called SCN1a. The SCN1a gene contains instructions (the genetic code) for the creation of a protein that controls how sodium ions move into the cells in our bodies. A change in this gene may lead to faulty functioning of this protein, called a sodium ion channel, in the brain. The movement of sodium ions in and out of cells help control electrical messages in the brain so a faulty ion channel can cause seizures. Not all mutations to this gene cause Dravet syndrome. Other SCN1a mutations are associated with other less severe forms of epilepsy, such as Genetic Epilepsy with Febrile Seizures + (GEFS+).

In Dravet syndrome, the gene mutation nearly always arises spontaneously and is not passed down (inherited) from parents. It is rare for mutations of the SCN1a gene to be passed from parent to child; however, some people with Dravet syndrome may have some history of febrile seizures or epilepsy in their extended family. Much remains to be understood about the causes of Dravet syndrome and research is ongoing. In children with Dravet syndrome who do not have SCN1a mutations, other genetic mutations are being explored.

Above all, the one thing that families need to understand is that it is not their fault. Gene mutations happen in everyone. It is simply random when they occur in an important gene like SCN1a.

WHAT IS THE CAUSE OF DRAVET SYNDROME

The course of Dravet syndrome is variable from one child to another. Seizures typically begin during the first year of life and neuro-development is normal prior to their onset. In most cases, the first seizures occur with fever and are generalised tonic-clonic (involving the whole body) or one-sided convulsions.

These seizures are often prolonged (lasting longer than five minutes) and may require emergency intervention. Over the next weeks or months, seizures increase in frequency and begin to occur without fever. Additional seizure types later appear. Most commonly, these are myoclonic (single jerks), focal or atypical absence seizures (usually involving staring and unresponsiveness).

During the second to fourth year of life, varying degrees of developmental delay typically become apparent. Other symptoms – such as ataxia (unsteadiness), sleep disturbance, and behaviour problems – may also develop. As children grow older, focal and myoclonic seizures may lessen, and in some cases disappear, but convulsive seizures typically persist, often occurring from sleep.

Prolonged seizures continue to be a risk and may still be more likely to occur with fever or illness. Communication, motor and cognitive functions stabilise, but significant delays persist.

Previously children with an apparently milder clinical course, usually without myoclonic seizures, have been described as having severe myoclonic epilepsy borderline (SMEB), it is now accepted to classify these children as also having Dravet syndrome.

Children with Dravet syndrome are at a higher risk of sudden unexplained death in epilepsy (SUDEP) than children with other types of epilepsy.

Children with Dravet syndrome are at a higher risk of sudden unexplained death in epilepsy (SUDEP) than children with other types of epilepsy. Despite this they have an 85% chance of surviving into adulthood. Adults are increasingly being recognised with this type of epilepsy as adult specialists become more aware of the condition.

IS THERE A CURE FOR DRAVET SYNDROME?

Unfortunately, there is no cure for Dravet syndrome. Treatment focuses on controlling or minimising seizures in order to minimise their impact on development and reduce injuries due to seizures. Anti-epileptic drugs are used, but these are not always effective in people with Dravet syndrome. Comprehensive testing and support is required for the multiple challenges that people with Dravet syndrome and their families face. Many children with Dravet syndrome have a good life expectancy, however children who develop severe disability may have problems which will affect their lifespan.

 GET INVOLVED

There are many ways you can get involved to help those living with Dravet Syndrome, your support will make a massive impact!

All funds raised goes towards meeting our three aims of funding medical research into the condition, raising awareness within the medical community and supporting families emotionally, practically and financially.

We welcome all support, fundraising and corporate enquiries along with suggestions or requests for further information or support

You can make a donation or setup a recurring donation here:

https://www.dravet.org.uk/get-involved/donate

You can find out more ways to get involved here:
https://www.dravet.org.uk/get-involved

Alternatively you can contact the team directly on:

https://www.dravet.org.uk/about

Phone 07874 866937

Leave a message and we’ll call you back.

By Post

Alternatively, you can contact the charity through our registered address:

Dravet Syndrome UK
PO Box 756
Chesterfield
S43 9EB

 

CARING FOR YOUR ELDERLY OR AILING FAMILY WITH ASSISTIVE TECHNOLOGY

AGING PARENTS ARE A WORRY – WHAT CAN YOU DO?

Definitely, having aging parents is a worry, especially when they live alone and may be some distance from where you live. Making regular phone calls and visits whenever possible will help to reduce their feeling of loneliness and isolation but it does not stop you worrying if they are OK.

Medpage Limited is a family owned and ran company with personal experience of the worry and complications of having elderly parents. Having supplied electronic aids to help care for people for over 30 years, the last few have certainly been a learning curve when it comes to “Assisitive Technology” (handy gadgets).

SO WHAT’S OUT THERE THAT’S USEFUL, WHAT’S IT CALLED, AND WHERE DO I GET IT?

The majority of people with elderly parents are unaware of products referred to as “Assistive Technology” (AT), “Telecare” “Daily Living Aids”, “Telehealth”, which are designed to offer care support using simple, or sophisticated electronic products, or gadgets. Some products are everyday items that people do not usually associate as being AT, such as simple rubber caps to help a frail person open a jar, or an easy-grip tin opener. So to help, let’s cut the jargon, briefly explain each type of care support, and provide some examples.

ASSISTIVE TECHNOLOGY (AT)

The term ‘assistive technology’ can be defined as “any device or system that allows an individual to perform a task that they would otherwise be unable to do, or increases the ease and safety with which the task can be performed.” (Royal Commission on Long Term Care 1999). This includes a wide range of devices from simple “low tech” items such as calendar clocks, memory aids, remote controls for switching lights on/off to more “high tech” items which, can provide and remotely relay alarms, data or information gained from Telecare sensors to distant carers or Local Authority community monitoring services.

DAILY LIVING AIDS – INDEPENDENT LIVING AIDS

A quick search on Google for Daily Living Aids, will reveal a magnitude of Organisations and Companies offering information or products to support Independent Living. Basically, products which support daily living are handy gadgets, again some simplistic, some more “High Tech”, and usually offer a useful benefit to the person to help them cope better with their daily routines – independent living.

TELECARE

Now here’s a strange one. Telecare has several interpretations but this one I feel best fits. The TSA’s (Telecare Services Association) telecare definition is: Telecare is support and assistance provided at a distance using information and communication technology.  It is the continuous, automatic and remote monitoring of users by means of sensors to enable them to continue living in their own home, while minimising risks such as a fall, gas and flood detection and relate to other real time emergencies and lifestyle changes over time.

TELEHEALTH

The Telecare Services Association definition of Telehealth is: Telehealth is the remote exchange of data between a patient at home and their clinician(s) to assist in diagnosis and monitoring typically used to support patients with Long Term Conditions.  Among other things it comprises of fixed telephone line or mobile phone type (GSM) home units to measure and monitor temperatures, blood pressure and other vital signs parameters (and the answering of targeted questions) for clinical review at a remote location using phone lines or wireless technology.

Was that useful?

So now that you have a better idea of how these gadgets are best described by the healthcare industry, and have continued to read this far, thank you. Now let’s have a look at a couple of examples, presented as actual scenarios with actual solutions.

WHAT IS THE MAIN WORRY FOR YOUR ELDERLY PARENT(S) LIVING AT HOME ALONE?

I guess the major concerns of most families are:

Personal health

Personal safety

Home security

Falls

Forgetfulness

Social Inclusion

IS MUM AT HOME? – HAS HER CARE WORKER VISITED? – HAS SHE CLOSED THE FRONT DOOR

Let’s have a look at an easy one first. I would like to know when the entrance door to my parent’s home is opened and closed. I want this information sent to my mobile phone, and maybe other family members.

I want to know what time Mum goes out, when she returns.

  1. I want to know that Mum’s health visitor has called in the morning and how long she stayed for.
  2. I want to know if Mum opens the front door late at night.

Providing there is an active broadband (internet connection) at the home, there is a very simple and affordable solution, our Wi-Fi Door Security Alarm WT06. In less than 5 minutes, you can have alerts going to your phone when the door is opened and then closed with time and date stamp. With a free powerful APP to use with your phone, it’s really easy to set everything up. You can opt to store door alert messages only, make your phone “ping” or have a full on claxon alarm from your phone. You can also set the times when the door alarm is active, 10pm – 7am for example. It works, it provides great peace of mind and at only £49.99 + VAT it won’t break the bank either. Search Wi-Fi on our website to view our complete range of Wi-Fi alarms.

See our other posts for further scenarios and product solutions and please let us (and others) know if you found this information useful.

 

 

 

 

Medpage sponsor annual Epilepsy Society Conference

Medpage actively campaign to raise awareness to epilepsy. Over the weekend, we attended the Epilepsy Society conference at the Holiday Inn Bloomsbury, as the main sponsor for the event. We had fun, made lots of new friends and met with some of our customers who told us of their positive experiences with our #epilepsy #seizure detection alarms. The event was a huge success.

IS SELF FUNDING A REALISTIC ROUTE TO INDEPENDENT LIVING?

Today, we wait with anxious anticipation for the announcements by the Chancellor detailing how the first budget since the Brexit vote will change our lives. Generous allocation of Taxpayer’s contributions into Health and Social Care is much needed but unlikely to materialise during this phase of potential tax increases and cutbacks predicted for health and environmental spending.

As pressure increases on the over-flexed health service, some aspects of social care and independent living are already changing. Some would argue more out of necessity than desire. Our aging population will continue to exert pressure on service and equipment provision and with stricter eligibility criteria, many families are left high and dry without daily living support.

A recent study conducted by the Centre for Technology Enabled Health Research, Coventry University, (Assisted Living Study COMODAL), investigated hurdles that could potentially hinder the implementation of a strategy to promote self-funding care options by raising awareness to Assistive Living Technology (ALT). Typically, the main obstruction was likely to be lack of understanding or awareness of Assisitive Technology. Under the Care Act (2014), Local Authorities are required to raise awareness to Assistive Technology and offer it as a solution to supplement an individual’s care requirements. Mmm? Raise awareness – but we have no money in the pot to provide it!! Clearly, it is the case that publicly affordable Assistive Technologies need to be the “NOW” thing and not a pipe dream solution for the future.

Raising awareness to Assisitve Technology needs to be incorporated into primary education curriculum to encourage dissemination of information through generations. Children love to impart their newly learned knowledge to their parents and Grandparents. For now, we will need to rely on the service and equipment suppliers to do the job of the Government.

There are numerous programs implemented to raise awareness to Assisitve Technology. The ATHOME website supporting independent living, asks the question “Have you thought about investing in your future independence” and provides a wealth of information to guide families and healthcare professionals through the relatively simple transgression to Assisitve Technology Enabled Care.

Visit ATHOME now to discover how Assisitve Tecnology could help you. http://www.athome.uk.com/

You may also consider a visit to a trade show such as Naidex where you can listen to expert speakers talking about technology and visit over 300 stalls to gain first-hand experience of Assistive Technology.

The next show at the Birmingham NEC is 28/29/30th March 2017. The show is free and you can register HERE

 

Article by Mike Dines www.medpage-ltd.com

Can Assistive Technology have an impact on the UK Healthcare crisis

The UK HealthCare crisis is frequently in the news, today (16th February 2017), was no exception with an announcement from Age UK saying that 1.2 million people do not receive the care they need and a staggering 696,500 receive no help, of whom 53,000 have trouble with at least three daily tasks such as washing, dressing and eating.

Increasing Healthcare costs funded by Spending Cuts to other vital services

Local Authorities spent £16bn last year on services for elderly and disabled people, after funding from central government was cut by a third in real terms during the last Parliament. Councils across the country are struggling to foot the bill for our healthcare and social care needs, finding it necessary to make budget cuts to other services including housing and road repairs.

Reducing costs should not be to the detriment of a person’s wellbeing

While it is considered by many that Assistive Technologies, specifically Telehealth, can help to reduce healthcare, there is no replacement for human interaction. Reducing care costs should not be to the detriment of a person’s feelings or wellbeing, or create isolation from the community. The Department of Health announced that “Telehealth” was the answer to reducing Healthcare costs by up to 1.2bn over 5 years. Results from a recent study led by Prof Stanton Newton of the School of Health Sciences, City University, London, measuring the quality of life of people using Telehealth products produced no measurable effect on feelings or wellbeing of those involved.

Assistive Technology prescribed/issued correctly has a positive effect on wellbeing

We are in a technological age where technology is part of everyone’s daily life. Everyone can appreciate the benefits provided a by TV Remote Control, a Cordless Telephone or a Mobile Telephone. The list is endless. These items are accepted by us because we have all grown up using them as part of our daily lives. Sadly, Assistive Technology, Telehealth, Telecare has not yet acquired that status due to lack of education from an early age. To console the sceptics, Assistive Care Technology is proven to improve the daily lives of its users and can aid independent living and if provided/prescribed correctly to a person, will have a positive effect on their daily lives and on reducing care costs. When a person feels safe at home, it is a positive effect on their wellbeing.

Medpage Limited T/A Easylink UK actively promote awareness of Assistive Technology and provide a diverse range of in-the-home care products.

Visit our website to view our products. www.medpage-ltd.com

IoT Making care solutions more affordable

The Internet of Things has caused excitement in many business sectors by releasing the power of the internet to provide connectivity solutions for numerous applications, the care industry is one sector that is desperately searching for solutions for everyday care scenarios.

Medpage Limited have recently launched a radio paging IoT station that allows our range of radio paging products to provide alerts to live-in carers and carers away from home. Bed or chair occupancy sensors, call pendants, door alarm sensors, smoke alarms, water leak detectors and some of our medical product range can all communicate through the IoT station.

As an example of how this technology can help people live more independently, a person with mobility issues may use a call pendant to signal for help from their partner (carer) via a radio pager when they are at home. If the carer should leave the home to go shopping or on another errand the IoT station would relay the help call through the internet directly to their Smartphone providing an off-site alert. This dual functionally is virtually unique to this product and is available from the Medpage website.

Epilepsy Society annual conference 2017

Medpage Limited T/A Easylink UK are sponsoring the #Epilepsy Society conference for the second consecutive year. Book your place now. See venue details below. Medpage will be exhibiting the latest bedtime #seizure detection products.

Epilepsy: past, present and future … a conference for people affected by epilepsy

Join us for a day at the Holiday Inn London, Bloomsbury on Saturday 18 March 2017 to hear about the latest developments in epilepsy genetics and to meet and share experiences with others affected by epilepsy.

 

Get your booking form https://www.epilepsysociety.org.uk/annual-conference-2017#.WJnTvTuLTIV

MemRabel 2 daily calendar reminder clock with personalised media playback to aid people with dementia and other cognitive impairments

MemRabel 2 daily calendar reminder clock with personalised media playback to aid people with dementia and other cognitive impairments has been upgraded. So what is it? Watch this short video to learn more

GENERAL DESCRIPTION

MemRabel 2 allows a family member or health visitor to set daily time reminders with voice and picture or video reminders. Up to 20 reminders can be set for Daily, Weekly, Monthly, and Yearly playback. At alarm time the selected voice reminder with accompanying screen graphic or video is played back on the screen. Voice reminders can be set by number of repeats with the graphic set by a timed constant repeat interval from 5mins to 25mins. MemRabel 2 is supplied with pre-installed audio, picture, and video reminder files that are easily selected to create the majority of typical daily reminder requirements. Personal reminders can be created with audio (voice) and photograph, or a video which, can be added to the MemRabel library or selected as alarms from a flash drive inserted into one of the USB ports (standard or mini).

Choice of time displays to suit cognitive ability

  

Over 100 Pre-installed graphic, voice and video reminders

FEATURES SPECIFICATIONS

THE PERFECT MEMORY PROMPTING CALENDAR FOR SENIORS AND PEOPLE WITH FAILING MEMORY
BIG EASY TO SEE TIME DISPLAYS

INTERNAL MEDIA STORAGE OF 8GB
CREATE UP TO 20 PERSONALISED REMINDER MESSAGES FOR ALARM TIME PLAYBACK
OVER 100 PRE-INSTALLED ALARM REMINDERS
UK 24 MONTH WARRANTY

Overall dimensions: 8 ¾’’ x 7’’
Screen Size 6 ¾’’ x 4 ¾’’
Resolution 1080/720
Picture formats JPG,BMP, PNG, GIF
Audio Playback Formats MP3, WMA, OGG, APE, AAC, WAV, FLAC
Video Playback Formats RM, RMVB, AVI, MP4, MOV, VOB, PMP, FLV

See more about MemRabel 2