Sebastiaan’s Story – Stichting De Ontbrekende Schakel

Sebastiaan's Story

Sebastiaan was born the 28th November 1992 at Baronie hospital in Breda, the Netherlands. He was “launched”, as we called it, because after just three contractions he came into the world. He was violet at that moment, and didn’t want to cry or keep temperature. This became normal after a few minutes. The placenta stayed too long in place, so doctors planned to remove it by operation. After giving contraction-stimulating medicaments the placenta came spontaneously. Nothing abnormal was found in it by the gynaecologist. Next day Sebastiaan and his mother Agnes were allowed to leave the hospital. On December 2nd 1992 he was given a salt solution because of a clogged nose. On December 7th he was injected in the heel, with nothing abnormal concluded. The parents spoke out their fear of something serious to their family doctor and the children’s health centre, because he got the salt solution so often, but it was called a ‘repetitive cold’. In January ’93 we started with NUTRITON (thickener) to keep his food inside while burping after dinner. On May 16th 1993 the doctor diagnosed inflammation of the middle ear, and prescribed medicines. On May 30th Sebastiaan started trembling. He didn’t want to eat, and we, his parents, thought there was definately something wrong. We went instantly to the hospital. There we weren’t accepted because we didn’t have a referal from our family doctor. Straight from the hospital we went to the family doctor that was on duty that day (our former family doctor), but we were brushed off with the words: “You’re just making a mountain out of a mole hill. He’s just having a cold”, and with these words we were expected to go on vacation without any problems. Our vacation was terrible, because Sebastiaan started shaking all over (uncontrolled movements) and giving up his food. So he lost weight and started desiccating. During the trips we made, we gave him a rattle in his hands, to cover up the shaking and trembling that was getting worse. After our vacation, on June 8th, we went to see our own family doctor and – surprisingly! – he finally listened to us. He had Sebastiaan admitted to hospital the very next day. At the hospital the pediatrician did several tests in a couple of days, e.g. an EEG, blood test, brain echo, urine test (2 x 12 hours), physiotherapy, brain scan and again a blood test. On June 16th 1993 he was allowed to leave the hospital and they concluded; “PROBABLY A KIND OF SPASM.”………. At that moment your world collapses.. How to handle with this phenomenon “spasm”? What to expect, what will Sebastiaan’s prospects be like? Where will this end? Nobody is able or wishes to give a right or – at least – satisfying answer to all of these questions. On August 9th 1993 Sebastiaan is prescribed RIVOTRIL (muscle weakener) to suppress the shaking and trembling. On October 11th 1993 we went to Dijkzigt Academic Hospital in Rotterdam, on request of the pediatrician in Breda. There they concluded after a few hasty tests (some of them seemed to be too simple), again: “Spasm”. The doctor in Rotterdam advised to have an MRI-scan under anaesthesia done, but there would be a waiting list from approximately ONE YEAR!!! We made an appointment for it at Dijkzigt and went back to Breda. Just recently we had heard that Ignatius Hospital in Breda had just got an MRI-scan, and after a few contacts with the hospital we heard that the waiting list in Breda was LESS than a year, so we cancelled our appointment for the scan in Rotterdam and made an appointment with dr. De Rijk-van Andel in Breda. On October 13th we stopped using RIVOTRIL, because it had not the right effect. On December 13th we went to the optometrist, who found no problems with Sebastiaan’s eyes. On December 15th we had our first talk with Dr. De Rijk-van Andel at Ignatius Hospital to talk over the details of the MRI-scan, which could take place in about 3 months time!!! On January 29th 1994 Sebastiaan got very angry, and stopped breathing. Those few seconds looked like eternity. He did the same on January 31st, February 1st, and on the 3rd (even twice). The same day we asked for admission to hospital because of this rare dyspnoea and the often coughing. An EEG was done, showing nothing abnormal. A couple of days later they concluded that his nose toncils were rather big and swollen. On February 8th, Sebastiaan had his nose toncils removed. He lost his clogged nose, as he had from his birth. We had been giving him a salt solution every day for 15 MONTHS now, and NUTRITON, and this could finish now!!

But on February 12^th 1994 there was a strong attack of dyspnoea, so that even the nursing personnel got scared that he wouldn’t come out of it. Two days later there was a suggestion for EPILEPSY and he was given DEPAKINE for it.
On February 18^th we could leave the hospital again, and we got the DEPAKINE with us.
On April 11^th Sebastiaan finally got his MRI-scan, which we had set our hopes on. But there wasn’t anything to be seen which could lead to more clarity about his disease. We were even told that there’s always a percentage of diseases in which they never find out what’s wrong. So the conclusion would be: Sebastiaan had a severe handicap because of an unknown disease. He was a lying-baby, almost not moving, and he couldn’t express himself by playing, talking etc. His day consisted of every hour to and from his bed. In that hour he showed expressions of weariness and sleepiness. In April 1994 we requested for a special bike seat, to increase mobility and spare car costs. On June 15^th 1994 Sebastiaan got an eye-ear coordination test which ended in a negative result, because Sebastiaan protested heavily during this test.
On June 24^th 1994 we got the green light for the special bike seat, which appeared to be completely useless. Because this seat has to be placed as far back on the bike as possible, the bike became very unstable and uncontrolable because of the weight, so it was a danger to road safety. We made the company take the seat back. It appeared that they’d never had to make an adjusted bike seat, so they were completely unexperienced in it.
On June 29^th 1994 the adjusted chair for Sebastiaan was delivered at our home, in which he has to sit to at least be able to rise from the floor a bit, to eat fairly normal and to play on the playing plateau.
On August 3^rd suddenly the uncontrolled movements returned, this time like a “waving movement”. He even couldn’t use his hands the normal way to remove a tissue laying on his head. We went to the hospital, where he stayed for heart-observation during the night. Again there was no result. The next day, on August 4^th we could take him home because the movements had stopped.
On August 11^th there was another EEG-scan made, without any value for us. But dr. De Rijk-van Andel was surprised because Sebastiaan lay very still during the examination.
She thought: this is no SPASM, this is a kind of MOBILITY DYSFUNCTION.
On September 12^th we requested for a parking lot in front of the house, because of the parking problems in this street. At first they refused this request, because Sebastiaan didn’t drive the car himself. But we could request a parking ticket for invalids for one passenger, so that’s what we did.
On September 22^nd 1994 we requested for a large adjusted buggy. We couldn’t use his old buggy anymore, because Sebastiaan was overstretching too much and therefor had too little support in it.
On November 1^st 1994 we got a call that we could get our parking card at the city hall in Breda. When we got there we were told – to our surprise – that they themselves had decided to request for the invalid parking lot anyhow. We would be given notice when they would know more.
On November 17^th the superintendent from the department Municipal Works came to see which parking place would be recommendable, for the realization of an invalid parking lot. Because it was a good space, and it was foreseeable that Sebastiaan would end up in a wheelchair, the decision was positive: we would get our parking lot. At the same time we received the request forms for adjustments, if necessary, in our house, or – if this wasn’t possible – a request for an adjusted house. We decided not to send them straight away because of the upcoming holidays.
On November 18^th we asked dr. De Rijk-van Andel if there were still tests remaining for us to try, or do we start all over again with the tests Sebastiaan already had? She answered: “There is one more test we can try, a SPINAL PUNCTION”.
We asked if this was possible with Sebastiaan, and she confirmed. We gave permission for the punction. On the 23^rd of November 1994 Sebastiaan was admitted to hospital.
On November 24^th, the next day, they first did a urine test by means of a catheter. Later that day he also had the spinal punction.
On November 28^th they started with the parking lot in front of our house. They made it extra large because of an adjusted wheelchair-bus – if necessary – which we should have at some time in the future. This was “a nice birthday present from the city of Breda”, because Sebastiaan turned 2 years old that day.
On December 7^th 1994 the special buggy was delivered, on which we build a playing plateau ourselves – an idea which was later adviced to the firm that delivered the buggy.
On December 13^th 1994 Sebastiaans starts at the medical kindergarten of the Social Pedagogic Service (Sociaal Pedagogische Dienst in Holland).
And on December 14^th 1994 there was a bolt from the blue:
THEY DIAGNOSED SEBASTIAANS DISEASE!!!!!
It appears to be a lack of NEUROTRANSMITTERS. Neurotransmitters are used to transport stimuli to the brain. It is a very rare metabolic disease, further that time not know in Holland; there is a London girl known with the same disease.
The luck of it: There is medication known for it. DOPAMINE, usually prescribed for PARKINSONS DISEASE patients. That night we only started to realize it, how strange it sounds: the only known patient with this disease, and yet medication available. How is it possible! And there are so may diseases thousands of people suffer from, and after years of research still no right medicine, like aids and cancer.
On December 30^th 1994 we had a talk with Dr. De Rijk-van Andel, because we had so many questions and we wanted to know what the further treatment would be.
On January 2^nd 1995 Sebastiaan was admitted to hospital for a second spinal punction, to confirm the results of the first one. Also a second urine test was done.
On January 5^th 1995 at 18.00 p.m. he was given the DOPAMINE for the first time. It consists of a combination of L-DOPA 10 mg and CARBIDOPA 2,5 mg, called SINEMET. On January 6^th we were just after twelve at the hospital and Sebastiaan was already sitting differently in his buggy. He straightened HIMSELF after sitting wrong. At that time he had only been given the medication a few times, and already a result like this!! After a few days he cried “mamma”, which he had never done before. The dosage of the medicine was increased again, and Sebastiaan got too lively and busy.
He changed too much and couldn’t lie quietly any more, he was like a big marble. Because we got scared of it, we could leave him in hospital till they found the right dosage for him, so we could handle him at home. He changed those days from an unmovable and silent child to an overactive one.

He returned home at January 16^th 1995. He learned to turn himself around and to play with his toys. That changed his world to a bigger one. He sat better in his adapted chair. Also his power of speech increased in a short time, and he started to point at the things we asked for.
There was another spinal punction at June 19^th 1995 to get the medication on a better level. It should be increased to get better results and to make up his arrears in development. It appeared he also had mental arrears, but his muscular movements were less developped. Sebastiaan had a neurotransmitter (dopamine) level of 195: it was about 117 in January. The usual percentage is between 400 and 700. In little steps the medicine was increased up to 90 mg a day.
At the very moment Sebastiaans and our lives changed very fast, which was too fast for Sebastiaan as well as for us. Neither we or him could keep up, or just hardly.
At the end of June 1995 we bought a normal bike seat and buggy, which was comfortable for him from the start.
From August 18^th 1995 he started sitting independently.
On August 27^th 1995 he stood up straight in his bed for the first time.
On August 30^th 1995 he started sitting on hands and knees.
On September 7^th 1995 he walked in a frame, “a keywalker”.
On September 9^th 1995, crawling on knees, first from sitting, later abdominally.
On September 9^th 1995 he sat on his walking car, moving forward.
On September 13^th 1995, crawling, starting abdominally.
On September 13^th 1995, sitting on his knees, leaning on something.
On September 30^th 1995 he stood backwards to the settee.
On October 7^th he climbs the settee and calls: “have” while pointing at someting.
There are some more words that he can say, like “get”, “eat”, “mug”, “drink”, “teddy”. He can combine the ideas of milk, cacao and microwave. He walks at one hand. Gets real handy with his walking aid. He stacks bricks from his box of bricks, he puts battery-powered toys on and off.
On October 22^nd he puts a mandarin back in the fruit basket and turns the basket so that he can pick an apple from it.
On October 24^th he crawls on his knees with his hands on his walking car.
On October 27^th he builds something from his box of bricks.
On October 29^th he climbs the stairs on hands and feet and points at his puppet parrot saying: “Koko”.
On November 7^th he leaves the settee by himself.
On November 8^th he builds a tower of bricks, in the right colors and measures.
On November 10^th he stands at the coffee table.
On November 17^th he comes into the kitchen and pulls himself up on the dresser.
On November 18^th he sits on a normal chair at the kitchen table, drinking his bottle.
On November 19^th he calls for his sister Sabrina, saying “BIENE”.
On November 25^th we placed all door-latches upwards, so Sebastiaan couldn’t open them by himself anymore.
On November 26^th Sebastiaan hits with his fists on the table and says: “FOOD”.
On November 30^th he crawls from the kitchen chair by himself. This day we also got the adjusted buggy from the loft; it had been standing there since July 1995, in case we might have needed it at some time.
On December 4^th he climbs on a low table at school, and sits on top of it.
On December 5^th the adjusted chair is taken back because he doesn’t want to sit in it anymore.
On December 7^th he stands against a door, turns around and walks 10 steps! Halfway he stands still and corrects his balance.
On December 9^th he opens the door, in spite of the door-latches we placed upwards.
On December 16^th he gets up off his kitchen chair, grabs the towel from the hook and lays it on the kitchen dresser, so we know he wants to wash his hands.
On January 1^st 1996 Sebastiaan starts walking independently.
On January 3^rd 1996 Sebastiaan has to have another spinal punction to check if the medication is still working right and to conclude how high his level of DOPAMINE is.
Sebastiaan is so strong at that time that they had to increase the dosage sedatives during the spinal punction, and he has to be held in check by two assistants to make sure the punction goes well.
The physiotherapists sometimes wondered: “What can we still teach him? He learns more easily on his own than with our help, because the rehabilitation hour at home has turned into a playing hour. You should build that up to teach him things”. Sebastiaan has had physiotherapy at home for 2,5 years; the first year twice a week, later on once a week. This therapy was initially meant to keep the muscles that weren’t used supple, like arms and legs, and to keep at least somewhat movement in it. Later this therapy aimed at stimulating the movements that Sebastiaan himself started to make.
Besides the physiotherapy, Sebastiaan has had play-coaching from the Social Pedagogic Service (SPD), to teach him use the movements, he’d learned in his physiotherapy, in his playing.
Since June 1994 Sebastiaan has also a few appointments per week at the Rehabilitation Centre (RC) in Breda, for speech-training and physiotherapy among other things.
From January 9^th 1996 he visits a special school, connected to the Rehabilitation Centre, where he follows a personally developped program to make up his arrears as fast and efficient as possible. It has the advantage that we don’t need to visit all therapies at the RC anymore, because they bring him in directly from the “lessons”.
On January 19^th 1996 he turns around while standing.
On January 21^st he totally stands still in one place.
On January 22^nd he starts walking in reverse.
On January 26^th he crawls underneath the kitchen chairs, which means he knows the difference in ‘high’ and ‘low’.
On February 12^th we get the results of the punction of January 3^rd. The dopamine level went up from 195 to 264, so we made a step forward to a “normal” life.
On February 20^th 1996 he started swimming in the Rehabilitation Centre’s pool. There they were all so surprised about the good results, they are going to bring in some “wet-therapy” in Sebastiaan’s program, once in two weeks.
On February 22^nd he stands upright again, after bowing to the ground to pick up something.
On February 25^th Sebastiaan got the first self-made hole in his trousers by crawling.
On February 29^th he’s standing upright from sitting position without help.
On March 1^st he starts running and a kind of “hopping”.
On March 2^nd he shuts his father out of the house, by turning the door-key. It was a lucky thing that somebody else was at home.
On March 9^th he walks on hands and feet, like he saw in the film “Junglebook”.
On March 13^th Sebastiaan crosses the street after first looking left and right for traffic (he did this all by himself).
On March 18^th he holds his hand before his mouth when coughing.
The “disease” Sebastiaan is suffering from, didn’t have a name until we called it “Dr. De Rijk Syndrome”. It’s a kind of TYROSINE HYDROXYLASE DEFICIENTY, which might later be further specified.
On March 18^th Sebastiaan gives up food again and didn’t want to eat either.
On March 20^th he got prescribed the medication MOTILIUM to cure the throwing up.
March 24^th : A three days cure wasn’t enough for him, so he got the same medication again.
On March 25^th we found he had an ear-inflammation, and he got AMOXI suspension (penicilline) prescribed.
On March 26^th Sebastiaan was admitted to hospital, after consulting our family doctor, because of dessiccation symptoms. It is found out that, because of giving up often, the Dopamine level became very low, so he couldn’t do anything in the normal way.
He returns to the state he was before we started with Dopamine in January 1995. Symptoms are: Hands like fists, bad head-balance, eyes turning up, pointed toe and feet, and less response. Research is being done to search for possible virusses and bacteria, in blood, urine and feaces. Now Sebastiaan is being fed through the nose. He gets water and minerals to strenghten him. Everyone was surprised to see Sebastiaan going much better after giving him only one dose of Dopamine. He didn’t look so bad and ill as he was before.
On March 27^th Sebastiaan is doing much better already in hospital. Still being fed through the nose, he gets half food and half water mixed. At night he even eats toast with marmelade. His mobility is what it was before. Next day the nose tube is removed and Sebastiaan gets solid food again.
On March 29^th he jumps up and down in his bed, using his pillow as a landing zone. It is the day he is allowed to go home.
On Saturday April 13^th Sebastiaan suddenly calls: “bah”, and we find his trousers totally wet by peeing. It also happens the next days. On Monday, April 15^th he got his napkin filled. As we hope it could be the start of a tidiness training.
On May 13^th he climbed out of his bedstead and hit the floor quite hard.
On May 28^th Sebastiaan again went to hospital because of giving up often again. It was probably a virus so he could leave again after some days. As it seems by now, Sebastiaan will be taken to hospital every time he has a period of giving up. Just for checking his medication.

Sebastiaan, a child who never seemed to be able to do anything in his life, now scratches his knees all the time when playing in the garden for hours a day. We applied Sebastiaan for the Mytylschool course (school for disabled children) 1996-1997. At this school he’s learning everything a ‘healthy’ child learns at kindergarten, only in an adjusted pace and system. At last Sebastiaan learned to be tidy again in March 1997. Now he goes to the toilet when he needs to. He still gives up his food every now and then, but that’s probably because of him being busy and agitated all the time, so his stomach can’t really rest. To a less extent he still has some trouble keeping his balance. Therefor he still has one adjustment, a large tricycle he often plays with outside. How the future will be won’t become known yet at the moment. We hope he will grow to be a person that can manage himself in society in a fairly normal way.