Career path: Caretaker

"Come on, Filip! Can you come in from the car? I realise you want to drive more, but we're going in now! We're having dinner!"

Filip Amundsen (20) loves driving. And today, the short drive home from school is not nearly long enough. It rarely is. The routine we are now witnessing is more the rule than the exception.

"Come on, Filip!"

Filip laughs heartily and looks teasingly at mum. He knows what she wants, but he also knows that she knows what HE wants.

Big on the outside - small on the inside

Mum takes it in stages. First, coax the boy out of the car. Then close the car door despite the fact that he keeps wanting to get back in. Then he has to stand for a while and pat the door after it's closed. Filip then moves up and down the side of the car and pats it for a while before finally allowing himself to be led away from the car and over to the house steps.

The 20-year-old needs support when he walks, as he has poor walking ability. When he reaches the stairs, he sits down on the bottom of the three steps.

Mum sighs. It's getting cold.

Mum alternates between coaxing, singing and giving strict commands. And Philip laughs. Listening. And laughs again. He knows full well that she can't lift him. That she just has to wait while he sits here, and he loves this opportunity to have some control. That's why he's in no hurry at all to get in.

"He's big on the outside but small on the inside. That's what we usually say when we explain why Filip behaves the way he does. We know he understands a lot more than we realise, but he can't speak and neither we nor his schools have managed to give him good enough options for communication."

Marita turns to her eldest son once more.

"Are you coming? Come on, Filip! We're going in!"

It takes almost an hour before Filip has finally covered the 20 metres between the car and the front door. When he has finally made it all the way into the hallway, he obediently sits down on the bench so that mum can take off his shoes.

"There! I guess it's time to start supper," says Marita with a mixture of relief and exasperation in her voice.

During the process of getting the boy in from the car, it has become dark outside. Filip is cold, but very happy. He laughs heartily and gives mum another hug. Being a bit mischievous is his favourite thing in life. Second only to water and driving.

Dramatic start

Filip has a severe intellectual disability. Angelman syndrome is a very rare diagnosis that occurs completely randomly. The incidence is one in approximately 40,000 births. This means that on average, one new person with Angelman syndrome is born in Norway every year.

The diagnosis is accompanied by reduced sleep requirements and epilepsy, among other things. But it took some time before anyone realised that Marita and Morten's baby had a serious diagnosis.

"It was a dramatic birth. He had to be delivered with a vacuum, one of those suction cups, so he was screaming all the time. This caused them to examine him more closely, but in the end they concluded that it was probably a headache. A consequence of the suction cup, which would pass. But it didn't," Marita says.

Little Filip screamed more or less continuously day and night for the 17 days the little family stayed at Ullevål Hospital. Although no one was able to find the reason why the baby was screaming and why he was so frantic that he was unable to suck and feed himself, the new family was sent home.

"Vital and alert, but with feeding difficulties," says Philip's medical records.

Marita had just turned 22 and Morten was 24 when they became parents for the first time. They had just bought an apartment in Oslo. He was a carpenter and she had almost finished her nursing programme.

Today they are 42 and 44 respectively, and live in Leknes in Lofoten. Filip is big brother to Noah (18), Synne (16) and Karsten (7). A lot has happened since those first hectic days at Ullevål Hospital, and almost nothing has turned out the way the young couple planned their lives.

"Strangely enough, I managed to complete my last internship when Filip was six months old, so I'm a trained nurse. But I never got to work."

One of the challenges for children with Angelman is that they need very little sleep. When Philip was a baby, he only slept a few hours a day. And rarely at night. Until he was well into his teens, his parents took turns sleeping on a mattress next to his bed to keep him quiet at night.

Philip was still very young when the couple realised that they were going to need a lot of help from his grandparents.

"We both had young parents when Filip was born, and in his early years they often travelled from Lofoten to Oslo to take him for a while so that we could sleep. Eventually we sold what we had in Oslo and moved back here," explains Marita.

Extensive "side effects"

Today, Marita knows that being a caregiver for someone with severe and complex care needs is more than a full-time job, and that it determines family life, social life and career plans. She knows that the role of carer for someone with a rare diagnosis is also a role as a guide for professionals who are not familiar with the diagnosis or any additional diagnoses. She also knows that the task leaves her completely exhausted.

It is now just over a year since she wrote a letter to the local authority in tears. She informed them that she could no longer cope. Within a year of the letter being sent, Filip will have to move out of his home and into municipal care accommodation.

"It's a huge burden to realise that you can't take care of your own child, that you're actually so tired that you need help. We have a fantastic family who are always there for us. Without them, I don't know where we would be. Our family has endured much more than they should. That alone is exhausting to realise," she says.

"It's downright humiliating to have to fight with the public sector, whether it's the municipality, county or state, to gain access to the statutory rights that Filip needs and is entitled to. Marita thinks for a moment and continues:

"I have to say that the "dialogue" with the support services has been one of the things that has worn us out the most. We generally experience being met with suspicion and resistance. We've had to appeal all the way to the top: aids, respite care, full-day school. Everything with Filip is always decided at the last second and in overtime, creating chaos both for him and for us. The support services suspect you, and you have to let yourself go to such an extent, throw a tantrum or start crying, before they realise how serious it is. All of this is extremely humiliating. And if you're applying for something, don't even think about writing a single positive word about your own child. That too is a huge burden."

She realises that Dignity Care wants to facilitate collaboration so that the system can be at the forefront of things. This is something she has dreamed of for all the 20 years she has been Philip's mum and carer.

"It took us five years to get a wheelchair van, and then we went to the Social Security Court twice. I think the social services are generally good at making you feel like a huge burden on society and a major expense. We often hear that. Both directly and between the lines."

She takes a breath and weighs her words.

"It's awful to say it, but I'm almost jealous of those with diagnoses who are put on a pathway, giving them both a coordinator and a kind of map of the terrain they're going through. Fortunately, there are now diagnoses where the health service is able to see the big picture! And that they don't just take care of the child, but support the entire family in crisis!"

Easier path to helpers

Marita doesn't know whether the research in Dignity Care will have any direct impact on families like hers, but she knows the perspectives she brings to the table are important. She dreams of being able to log in to a patient record or a collaboration tool, giving her access to professionals who are familiar with her rare diagnosis. To be able to communicate with healthcare professionals who know that even simple examinations of Filip require general anaesthesia.

Marita would also like the opportunity to communicate with different carers who see the bigger picture, not just for Filip, but for the whole family who are "growing up" with him.

"The syndrome is so rare that very few people have heard of it. Through a digital platform, it should be easier to get a kind of "pathway" with relevant information for different transitions in life. Not least, better help and guidance in relation to potential assistive devices and documentation requirements."

In many ways, Marita and her family have been in a continuous life crisis since Filip was born, and have had to navigate the support system, rights and legislation all on their own.

"It's actually quite crazy that we as a family have never been followed up by, for example, a psychologist or others who could talk to both his siblings and us. It's demanding for all of us to be in a family life that is so far outside the norm. And it's strange that no one realises that we also need to be followed up, but rather expects us to be some kind of superhuman who can tolerate everything and manage everything," she says thoughtfully.

"You're so strong" or "You're so tough to handle all this", we're often told. But we're not. We just don't have a choice. We have no alternative but to just keep going."

Long battles

She strongly recognises the need to vent from time to time. Talk about situations and events. To process some of what has happened. In connection with her research in Dignity Care, she has retrieved Philip's patient records. Sitting down to read it was much harder than she had thought it would be. She realises that coping with life so far has been about one thing and one thing only: Moving on. Solving the next challenge. And the next. And the next. There's plenty to take care of. Stopping to look back feels like waiting for a tsunami to hit.

"I recently fought for over a year for Filip to be allowed to pee during school hours. For some reason that we still don't understand, he suddenly refused to go to the loo. He just held it in and held it in and was in terrible pain. The only way to get him to relax so that he could pee was to put him in the shower, with the water trickling.

The school felt that it was not their job to take care of this type of care, and that it was unhygienic to pee in the shower."

Marita had to complain all the way to the State Governor. There, it all ended in a crushing victory over the school and the county council. But by then, the process had taken almost a whole school year.

The couple have divided the tasks between them. Morten works to keep them afloat financially, Marita to keep them afloat mentally. This means that she has the main responsibility for making life work around Filip, with applications, appeals, aids and respite care.

"Morten has a demanding management job and works a lot. I have a half-time position in a day-care centre, but for long periods I've been a stay-at-home parent and have only had a carer's allowance, because it's been impossible to combine life, and not least all the night-time vigil with Filip, with a job."

" Aren't families like theirs taken care of through responsibility groups and individual plans?"

Marita spontaneously bursts out laughing.

"I apologise for laughing, but that has never worked. Employees from different service providers are required to sit on the group, but the various organisations have no time to clarify tasks between themselves, and the employer certainly doesn't give them the time to go in-depth and do a good enough job. We usually end up doing most of the work ourselves."

"Gosh, I feel tired."

"Mum is worried"

"Mum is worried" is written early on, and eventually often in Philip's patient records.

"Yes, I was worried and there were so many things."

The three-month check-up was carried out at home in Lofoten. Marita had been at home with her parents for two months to get help with the baby. They slept in shifts to take care of the little boy who, in between the screaming, didn't need much sleep.

"I was really worried. I couldn't make eye contact with him, and his motor coordination was poor. I was in a maternity group and saw what the other children were doing. The health visitor did two important things. She told me to start formula feeding and to stop the stress of pumping to get breast milk into him. And she agreed to refer us to the hospital for a vision and hearing check. This was the first time my concerns were taken further. But his vision and hearing were normal."

Then one day when Filip was about a year old, the couple received a phone call that a number of senior doctors would be visiting Ullevål, and that they would be asking questions about Filip's first year of life to try to diagnose the boy.

"I remember that Filip was lying on a play mat on the floor when they came in. Not one of them greeted us, they just stood in a circle around the child and then questions started pouring in. We didn't know it at the time, but one of the doctors knew about Angelman, and he kept asking questions with things we could confirm. They took DNA samples, but when they came back we were told that everything was normal. The MRI scan showed a small abnormality in the brain signals, which they thought would eventually resolve. This was a huge relief and a powerful hope to cling to. But then came the counter message regarding the DNA samples. They had found something and asked us to come in for an interview. They gave us some sheets printed out from the internet about Angelman syndrome, and the message "This is what he has"."

This was in February 2004. Filip was just over a year old.

"Then we were told to go home and get in touch if there was anything we needed. Then we were left completely on our own."

The thought of this particular moment is still hard to swallow. Marita takes a short break.

"We went straight into crisis mode, I would actually call it a depression that lasted for several months. Everything we had thought and dreamed about on Philip's behalf. All hope disappeared. It's very strange that no one realised that parents who receive such a message need to be followed up. The two of us were unable to realise what we needed. In addition, we had a baby who hardly ever slept."

When the couple finally found out that they could apply for respite care because Filip only slept between two and four hours a day, it took a whole year of case processing. "You're wrong if you think that children sleep at night. Sleep problems in young children are normal and do not provide grounds for respite care," was the response.

"But Philip's doctor then wrote a fantastic complaint that was upheld."

A different life

If everything goes according to plan, Filip will move out of his home in September this year. He has been allowed to take over a children's home while waiting for the municipality to build more care homes.

Marita is relieved, even though she still feels that she was forced to give up her own son in order to get the municipality to act.

"Throughout his life, Filip will be completely dependent on having someone around him who has the time and patience to understand how he feels and to give him a good life. Just the thought of not being there for him every single day tears at my mum's heart."

"It will be a whole new era in his life, and a very big transition for all of us. We're prepared for a completely different life. Perhaps it will be a family life that is more like "normal". Not least for his three siblings, for whom I have constantly felt guilty. I really hope that we get Filip settled in well and that he will be happy in his flat."