A life with Dravet syndrome
Andrea Dietrich Waeber quietly leaves the nursery. She has spent the night with her daughter Milla. Next to her, the girl sleeps more peacefully. The 42-year-old sets the breakfast table, soon the rest of the family will be up. Andrea did not attach the pulse oximeter, the small device used to measure the oxygen content in the blood, to Milla's big toe last night. Night-time seizures mainly occur when the eight-year-old has the flu or a cold. Then the mum of two wants to play it safe.
Dravet syndrome is a genetically determined, severe form of epilesia.
Due to her daughter's illness, Andrea's life is characterised by many unexpected things. Milla has Dravet syndrome, a genetically determined, severe form of epilepsy. The girl has epileptic seizures several times a month, triggered by fever, fatigue or noise.
Andrea mixes a powder and the contents of three different capsules into Milla's apple sauce. The schoolgirl takes this combined medication three times a day. The many pills make the child tired. But the medication reduces the number of seizures. «Milla is having a good phase at the moment, perhaps the best of her life,» says Andrea. The current average is around two to four seizures per month.
How do these seizures progress?
A seizure begins with a slow «drifting away». Milla suddenly stops, stares into space, her eyes twist, her eyelids tremble, her mouth twitches, her body tenses up. To protect Milla from injury, Andrea lays her down. Then she prepares the emergency medication and starts the stopwatch.
In around two thirds of cases, everything is over after a few minutes. If not, Andrea sprays a few puffs onto the mucous membranes of the mouth or nose for inhalation after two minutes to stop the spasm - and again after another five minutes. «If it doesn't stop then, I call the ambulance.» Andrea keeps statistics: one seizure every fortnight is a very good record. «At times, Milla had a seizure every second or third day. Once even ten on the same day.»
The emergency box must always be
Today Andrea Dietrich Waeber is travelling from her home in Rechthalten FR to Gränichen AG to the Rütihof to attend the annual meeting of the Swiss Dravet Syndrome Association (VDSS) with Milla. She checks the weather forecast and packs her bag. The most important item: the emergency box. The small box with the life-saving inhalation spray must always be to hand.
Andrea gets her daughter ready for the outing: putting on her clothes, combing her hair, braiding her hair, brushing her teeth, putting on her shoes - no easy task. Milla is as restless as a young foal and would rather play. Her mum shines with her ingenuity to keep her in check.
The mum and daughter team arrive at the site at 10.30 a.m. and sit down in the audience of the clown show. Milla is focussed and amused. Her mum can breathe a sigh of relief for a short while. The organisers have set up a paddling pool on the pony farm.
What is great fun for other children harbours a risk for a girl like Milla: the heat and the change from warm air to cold water are among the main triggers for her seizures. An unnoticed seizure in the water would be fatal for Milla. «I love the summer. But I don't like it like this,» says Andrea. Instead of going to the swimming pool, the Dietrich Waeber family set up a pool in the garden. That way, the parents can always keep an eye on their daughter.
A very rare and severe form of epilepsy
This leads to disturbances in the transmission of information between nerve cells. This causes epileptic seizures and delayed development. Typically, an initially healthy child in the first year of life will have seizures, some of which are severe and prolonged, often requiring immediate emergency medical intervention. The most common seizure trigger is a rapid change in ambient temperature (e.g. hot, cold bath), hot climate or a change in body temperature (e.g. fever).
In addition to physical exertion and fatigue as well as infections (with or without fever), excitement, noise or visual stimuli can also lead to seizures. However, seizures can also occur without any triggers. The spectrum within Dravet syndrome is broad. The child's development is usually normal until the onset of the disease. After that, psychomotor development slows down. The affected children have mild to severe mental impairment.
The prognosis with regard to mental development and seizure frequency is unfavourable in the majority of cases. The resistance to treatment of this clinical picture presents doctors and parents with major challenges.
Source: www.dravet.ch
Milla's first seizure happened in the water. She was four months old and the bath water was at a comfortable temperature of 37 degrees. Suddenly, Milla fell unconscious and twitched her arms. «I didn't realise she was having an epileptic seizure. My husband immediately said that we had to go to hospital. We grabbed Milla, wrapped in a bath towel, and our then three-year-old daughter Lena and drove off.»
Milla knows no dangers
In the years that followed, Andrea and her husband Markus realised more and more what the diagnosis of Dravet syndrome meant for their lives. When Milla was two years old, her parents noticed that their daughter was developing more slowly than other children in terms of speech and motor skills.
«Her three-year-old cousin has already overtaken her,» remarks Andrea. Her character also resembles that of a two-year-old. Due to her delayed development, the eight-year-old has the urge to be free and the fearlessness of a toddler. «She knows no danger, runs into the street or follows her impulses and digs up a bed in the garden.» Andrea has to follow her constantly.
My child is ill. Please accept that!
Andrea, mother of eight-year-old Milla.
«Some people I know tell me that the disease might still develop,» says Andrea. That makes her angry. «My child is ill. Please accept that!» For Andrea, such a statement is a slap in the face, despite her good intentions. «Milla's illness doesn't bother her. The others have that problem.»
And yet, Milla's case is not a difficult one. She can walk, eat, speak simple sentences and go to the toilet independently. She has been attending the basic level of the curative education school in Fribourg since the age of five. She is picked up at home by a special bus whose driver knows what to do in the event of a seizure.
In Milla's class, nine children are looked after and taught by three special needs teachers. Milla knows most of the letters and can write her name on the computer. She attends speech therapy, occupational therapy and psychomotor therapy during school hours and hippotherapy on Thursdays after school.
Milla has every second Wednesday off and her grandparents look after her. «She needs routine more than other children,» emphasises Andrea. «Milla can read or listen to the same story a hundred times.» For a long time, her favourite was the mole who wanted to know who hit him on the head.
Another article on the topic:
Meanwhile, Milla has discovered the playground and runs off. Andrea stays no more than two to three metres behind her, as if connected by an invisible ribbon. «If Milla's body heats up just a little while she's playing, it can trigger a seizure.»
For Andrea, it's a constant balancing act to decide how much of a child's urge to move she should allow and when she should intervene. «I constantly have to slow my child down,» says the mum of two. «It's so difficult!» Play afternoons with friends are only possible with company. Milla needs one-to-one supervision. Social life takes place at school. Children's birthdays are celebrated there and Milla meets her friend Carole while playing in the playground.
The diagnosis was the end of the world
Andrea's older daughter Lena has a piano recital today and is accompanied by her father. The two girls often have separate programmes because of their different needs. The eleven-year-old knows that her little sister's circumstances affect the whole family. She doesn't know any different. Nevertheless, she should not miss out, which is important to her parents.
Every autumn, mother and daughter go to the seaside for a few days on their own. Dietrich Waebers spend their family holidays in the local area, although Andrea and her husband Markus used to travel a long way. «Holidays? That has nothing to do with holidays.» They miss the familiar surroundings and the important structure of everyday life. The fear of spending a night in hospital in a foreign country, where the medical requirements are not met, rules out many travel destinations. «My life plan would have involved a lot more travelling. We had wanted to show the children the world.»
We need a lot of self-confidence in order not to lose ourselves in the maelstrom of illness.
Andrea, mother of Milla.
The diagnosis was initially the end of the world for Andrea. «I had existential fears and wondered how I was going to manage,» the teacher recalls. She was afraid of «wasting away» at home and only having to look after her child. She struggled to accept this decision. «We need a lot of self-confidence so that we don't lose ourselves in the maelstrom of the illness.»
If mothers of healthy children are already criticised today for working, Andrea is all the more confronted with the accusation of selfishness. But with her 50 per cent workload as a primary school teacher, she creates the space to be herself independently of her family. "I like working. I find it dangerous when everything revolves around my daughter's illness,« says Andrea. "It quickly takes up too much space.»
Milla's father Markus is a sports teacher and works full-time. He and Andrea enjoy jogging, cycling and climbing. However, they usually do this separately, with the other looking after Milla. But they also need time together, says Andrea. Just like any other couple.
Thanks to a nanny, they can take this time now and again. «We were able to hire her through the IV assistance programme.» The service provides a few hours of relief each month. The nanny does things with Milla or cooks for her. When Andrea and Markus travelled to Cinque Terre at Easter, the nanny stayed with Milla for two days and two nights. Andrea says she has no problem leaving her child at times. The support is very important for her own balance. It gives her the strength to be fully present for her children.
Skills can be lost
It is uncertain how Milla's development will continue. During the neurological check-up, the first question asked is always whether the child is still making progress. Skills that have been learnt can also be lost. Most patients are dependent on lifelong care due to their mental and physical impairments.
«I don't know how much longer I can physically manage. That's probably the reason for not having small children until I'm sixty,» says Andrea. She assumes that Milla will want less parental presence over time. That one day she will want to sleep alone. That - in the distant future - she would prefer to live in an assisted living situation rather than with her parents. But the 42-year-old takes each day as it is. «Things usually turn out differently than you think anyway.»
The annual meeting of the Dravet Syndrome Association lasts longer than planned this time. Milla sits next to Andrea and is busy with her learning apps on her tablet. Mum and daughter almost missed the pony ride. The horse handler calls for the last round and Andrea accompanies Milla to the enclosure. The girl rides the pony with obvious pride. Milla knows the horse's movements from hippotherapy and sits securely in the saddle.
Encouragement is very important for Dravet children. Andrea knows: «IQ is variable, I can stimulate the child or let it atrophy.» When asked how she personally deals with the situation and whether she sometimes wishes her life was easier, Andrea answers pragmatically: «It is what it is. There's nothing you can do.» The diagnosis meant a total change in her life up to that point. And yet: «At some point, we lived with it and got used to it.»
Of course, there are times when she wants to «send the illness packing». But she seems sincere when she says in a calm voice: «Everyone has to carry their own rucksack in life.» Milla's illness is Andrea's first stroke of fate. Her own childhood was sheltered, her parents are still alive and well, and she usually achieves what she wants. «But now I don't expect to get cancer or my husband to die,» she says and laughs.
The illness has taught Andrea to be happy about the little things in life. She calls this new quality «humility». «I appreciate what is more,» she says, describing it with an example: «When I take Milla to the theatre and everything goes smoothly, when nothing happens and she has fun, that makes me happy.» In the late afternoon, the children and their parents gradually leave the premises and Andrea leads her daughter by the hand to the car. Milla looks out of the window up at the sky. She looks happy. «Today was a good day,» says Andrea and smiles.
