Nine year old Icelandic identical twin sisters with a rare chromosomal abnormality

The Icelandic identical twin sisters Sonja Ósk and Þórunn Björg were diagnosed with a rare chromosomal abnormality. The sister are nine years old, but one of them was diagnosed with the very rare chromosomal abnormality, Ring chromosome 20 syndrome, in March and the other one in August.  This chromosomal abnormality is very rare, but only 40 cases have been reported since 1973 when the first case was reported. The sisters are the only twins in the world known to have the chromosomal abnormality and the only Icelanders. The disease is characterized by a lot of seizures, but their behavior has also changed dramatically .

"First when it started with Sonja, we thought that this could be a bad nightmare," Kristbjörg, their mother, says. The first symptoms of Sonja were convulsions and seizures at night. Then the convulsions increased and at first it was believed that she had epilepsy.

The seizures are different and some last for a long time, causing a lot of pain and side effects. Later on, it was revealed that this was a chromosomal abnormality. Upon that confirmation, a blood test was made on the other twin sister who had not shown any symptoms. "Two days before we were supposed to get the results, she started having seizures," Kristbjörg says.

Behaviorial changes

The family has been through a lot this past year. They live in Ólafsvík, but the sisters need to be examined and undergo medical treatment in the Children's Hospital Hringurinn due to their illness. "I've been in the Children's Hospital Hringurinn more or less since April. My longest stay in the hospital was 26 days and nights with the other girl, I came home for four days and then she was admitted again for six days," Kristbjörg says, also the mother of two other children and two step children, now staying with the family one weekend a month. "My parents  have helped us a lot with the other children when I've been away so long in the city," she says.

The sisters take all kinds of anti-epileptic drugs in order to try to fight the seizures. The drugs work better on those diagnosed earlier, but a good enough drug  for those diagnosed later on has not yet been discovered. But the seizures are not the only thing. The illness has caused a lot of change in their behaviour. "These are not the same girls I had in the beginning of the year," Kristbjörg says with a serious look.

Difficult to deal with them

The sisters have temper tantrums and can be difficult to deal with. "They are unrecognizable in every aspect of their behaviour in comparison to their previous behaviour. They used to be cheerful and happy girls, diligent students.  They were a bit excitable, as is often the case with children. Now they have a difficult time in school, I'm often asked to pick up the other one and they have a learning difficulty. We're sometimes bitten twice to eight times a day, Kristbjörg says and says that they are very difficult to deal with.

"The girl who was diagnosed later on, has damaged a TV, two wardrobes, shelves and a chest of drawers," she says. It is difficult to ask others to take care of them. "My parents took her one weekend so I would be able to rest and my dad spent two days in bed afterwards. She's like a wild card. She may be quiet but then all of a sudden she behaves lika a hurricane."

Kristbjörg says this can be very tiring. For example, she had to go shopping with either one of the sisters. "I had to take either one of them with me when I went shopping before Christmas and then I noticed I was being frowned upon. Like an unfit mother with a naughty child. This often entails a lot more than that, but it is the reason why I no longer am able to take them with me anywhere. People should also think if there is not a an underlying reason."

Uncertainty

It is hoped that the drugs begin to work better on the other sister. "Two epileptic drugs have yet to be tested on her and if they do not work, then we need to apply for an exemption in order to get a drug that is not allowed here in Iceland, but has worked well for those with Ring 20," she says. The sisters are also on a special drug dosage as the other one was beginning to run away at night. "We needed to change the locks in order to stop her from going out, as she was started to go out at night."

Kristbjörg hopes that the medications work better on the sisters, but says that everything is really unclear in that regard. "As the doctors say, this is really just an experiment. This may work on that one but not the other one having this. We do not know how this will develop.  We know that this may become a lot worse when they grow older and reach the hormone age, yet we do know much much. The doctors have also told us that we may expect that they will get Aspberger, developmental impairment or autism. This may entail several things and you do not really know how this will end."

A job that must be done

Kristbjörg says she has managed so far by being tough. "Fortunately, we have a wonderful doctor who is young and very curious about everything and wants to finds reasons. Thanks to him, this chromosomal abnormality was discovered, a possible reasarch basis. We have a wonderful team at the Children's Hospital Hringurinn and in the school which one may be in contact with. You're incredibly lost in all this, trying to you do your best in this situation, but this has been a tremendous strain on the family. I've depleted any fuel, even before Þórunn Björg got sick," she says and adds: "But this a job that must be done."

Substantial travelling and pharmaceutical expenses

Family and friends have started a collection for them as travelling and pharmaceutical expenses have been substantial for the last year.  Kristbjörg is with 75% disability and due to the illness of the sisters her husband has also often been absent from work. "Travelling between places is expensive, also running a home here in this place, also living in the town when you stay in the hospital for such a long time," Kristbjörg says.

The syndrome

Ring chromosome 20 is a very rare chromosomal abnormality and only 40 cases have been diagnosed in the world. The syndrome is usually accompanied by seizures, but may also entail  behavioural problems and developmental impairment, to name a few. It is believed that there are more cases of the syndrome than doctors have reported. Sometimes accompanied by morphological characteristics and then it was possible to diagnose the syndrome immediately at birth, but as in the case of twins, Sonja and Þórunn, there were no morphological characteristics. The syndrome is usually diagnosed from the age of one to seventeen.