Pediatric neurologist cures ‘spastic’ child.
Sebastiaan’s story. A three year old boy from Breda, The Netherlands. In his first year ‘spasticity’ was diagnosed by the medical world. But after a spectacular discovery by pediatric neurologist dr. J. de Rijk-van Andel from St. Ignatius Hospital in Breda, Sebastiaan is on his way to a normal life. “He changed in only one day’s time”.
The story starts on December 15th 1993. The mother of a boy, only one year old, consults Dr. De Rijk. “Yes doctor, this is ‘just’ a spastic child”, pointing at her ‘sad’ child that hardly moves, doesn’t roll over, doesn’t sit, doesn’t crawl and doesn’t speak. Dr. De Rijk about that memorable day: “All kinds of research had already been done by other hospitals. The results were constantly: spasm. St. Ignatius was the nearest-by hospital and that’s why mother and child came to me. I checked it all out and inquired after everything, but found no reason for spasm. He did have great arrears in development, which attracted my attention the most. Because the child didn’t move his legs, I started to think of something totally different from spasm”.
Dr. De Rijk looks through Sebastiaan’s medical file, which is as large as a linnen bag. It shows the first tear in it. Further research followed. An MRI (a magnet scan) was made of the head. Rehabilitation was requested for physiotherapy and other provisions. Looking over X-ray’s with a neuro-radiologist in Antwerp. An EKG (brain film), metabolic research of the blood, child to the optometrist. “The EKG went perfectly. It occurred to me that the child had been lying so still during the EKG. I found it strange. That was the reason I thought about mobility dysfunction”.
The next step was a lumbal punction, also known as spinal punction. Result: a rare metabolic disease, a defect of the enzyms. Sebastiaan’s brain contained a too low level of Dopamine because of a defect in the proces of making that substance. Because of that defect brain cells don’t transport the information right to other cells in the body. “A very special discovery, very rare”, Dr. De Rijk knew. Sebastiaan’s movements were filmed. Consultation followed with an analytical chemist and a pediatric neurologist in Nijmegen. In January 1995 – a year ago – we examined the liquid from the brain once again. With the same conclusion. “Then we started a test-treatment. We gave medicine containing Dopamine, the same medicine as used with Parkinson’s disease patients. The results were a wonder for everyone. The boy progressed spectacularly in only 36 hours. He changed in one day’s time. Suddenly there was good eye-contact, he sputtered, saying ‘mama’ and started laughing, moving and touching toys”.
Now Sebastiaan is almost three years old. “We increased the dosage medication. He still has arrears in his mental development, which started in his first two years, probably from his birth. But it’s going well. He’s starting to develop. He’s sitting, says little words, touches everything and he’s even becoming a bit naughty, according to his mom. I cannot tell to what extent he’s going to progress. I have no comparison to other patients. But I expect he’s going to be able to lead a normal life”. In a word, definately no spasm. Why didn’t they discover that sooner?
“Spasm is very hard to diagnose on baby’s. It’s very difficult to tell the difference from other kinds of stiffness. Pediatric Neurology is a profession with rare possibilities. In the medical literature I found a disease that looks a bit like it. From that disease only two hundred cases are known, worldwide.
Without Dr. De Rijk’s discovery, Sebastiaan would have ended up in an institution for the mentally disabled. “Yes, a lying-child, on a baby’s level. It would have looked very grim”. It is the result of searching. Searching for weeks, months, in different libraries. “Yes, I have indeed been busy for nights and weekends in a row to find out what was wrong with him. It’s just that I wanted to know what was behind it, the sifting, to be patient, to write, to think. You have little private life”. Well then, we’ll ask again: How did you feel when you had found out? “The great part of it – of course – is that you’re able to cure a patient. And of course it’s great when you can meet a professor in an academic hospital with a discovery like this. It feels good. Also it’s good to see that difficult cases are possible in a general hospital. But the most important thing is that the child is doing well”. Dr. De Rijk, since January 1991 the only pediatric neurologist in this province connected to St. Ignatius, has presented her remarkable findings in a few lectures for her trade association. Soon the medical finding will be presented on a congress in Great Brittain, after which publication in a scientific magazine follows.
Parents saw ‘living doll’ change into ‘naughty boy’.
‘Sebastiaan was born twice’
“His parents could hardly believe it”, Dr. De Rijk says about the day Sebastiaan gained a future. They still can’t believe it. “A medical world wonder, that’s what it is. He was a living doll and now he’s a naughty boy. Sebastiaan was born twice”, his parents Agnes and Philip say, in their home in the north of Breda. On January 6th this year they heard their child – then two years and two months old – say ‘mama’ for the first time. Up till that day it was just ‘filling his nappy’s and breathing’ with Sebastiaan, his father uses to describe those first years”.
It’s one of the rare moments that Philip talks. In a long waterfall of words Agnes tells her story. Philip plays with his boy like a proud dad. “I’m a big boy” says the print on Sebastiaan’s T-shirt. A lively, happy boy, nothing strange about him. The only difference to other children is that’s he slavering more. “Because of the medication”, Agnes explains. She tells her story without hesitation or pauses. She knows dates by heart. You can tell she’s told the story a hundred times to relatives and other people. They’re glad to contribute to a newspaper story, “because maybe there are more children like Sebastiaan and maybe they can be treated as well”.
“Sebastiaan was already six months old when we discovered that there was something wrong with him. It was on Whit Sunday’s morning. He didn’t want to eat and was trembling. According to our family doctor it was just a cold. After that he became worse.
He started shaking often. “Probably a kind of spasm”, the pediatrist said. All kinds of tests and check-ups followed, Sebastiaan got muscle weakeners prescribed. Once he almost choked. At that moment I thought I was going to lose him. He was admitted to hospital again. They thought of epilepsy. Different medication. Brain-film. He started to hold his breath coercively and had a black out. In Rotterdam again several tests were done. The results were: “spasm”.
So far Sebastiaan’s first year in bird’s-eye view. A year of many worries and many visits to specialists and hospitals. His parents started a life with a spastic child. With all problems involved.
The necessary requests were done: for an adjusted chair, an adjusted bike seat, an adjusted bus, an adjusted house. On his second birthday his parents received ‘a birthday present from the municipal of Breda’: a parking lot for invalids. His only sister Sabrina who’s twelve years old couldn’t do much with her little brother. Agnes tells open-heartedly: “The word ‘handicapped’ was not to be spoken out loud in this house for the first year. Philip couldn’t have it. Every morning we thought: “Is he still alive? Will we make the end of this day with him?” I cried inside….. He was severely handicapped. There’s a percentage of cases in which they never find out what’s causing the disease. And I couldn’t live with that”.
Agnes and Philip took Sebastiaan to St. Ignatius Hospital for an MRI-scan onder anaesthesia. In Rotterdam there was a long waiting list, but in Breda it was possible within three months. That’s where Dr. De Rijk came into view. “We gave permission for a spinal punction. It couldn’t get any worse than this. He was a living doll.
And then the cause was discovered. I couldn’t believe my ears. On that Thursday night in January he got Dopamine for the first time. On Friday afternoon – my parents-in-law were visiting – he sat double in his adjusted buggy. You think you’re dreaming. He was a different child to everyone that saw him. The medical world was astonished”.
It’s yet become the end of August 1995. A wheelchair-bus isn’t necessary anymore in Home Sebastiaan. There’s no need to move house anymore. The bottom of his children’s bedstead has finally been lowered. Sebastiaan is registered at the crèche of a school for special education in Breda. Philip: “It’s like a new world. One of my customers gave me a box of dinky toys. He said: Now he can play with them”.
Agnes: “It all went very fast. A couple of weeks ago he started sitting. I started to cry. I”ve always thought I was dreaming. Now the future looks totally different. Our daughter can play with him now. Every day it’s just wait and see what new things he can do today. It’s just a miracle”.
(Krantenknipsels / Press-cuttings)
(Weer succes voor Bredase kinderneuroloog)
Source: Weekly paper “De Bredanaar”, March 13th 1996, by Jacqueline Leenders
Pediatric neurologist again successful.
Dr. J.F. de Rijk-van Andel keeps working miracles. Last year she was regularly seen in the media after she had found a cure for the severely handicapped boy Sebastiaan Dekkers. He changed from a ‘lying-baby’ into a busy toddler.
After she appeared on Ivo Niehe’s well known TV Show, Ignatius Hospital’s department Pediatric Neurology became even busier.
Parents who wondered whether their child had the same disease as Sebastiaan. In many cases Dr. De Rijk-van Andel had to disappoint the parents, but recently she was again successful. A two year old girl and a three year old boy were diagnosed with the same disease by the Breda neurologist.
The children react well to the medication and progress rapidly. Dr. De Rijk-van Andel keeps working miracles.
No, she has no idea how many people there are in the Netherlands who have the same disease as Sebastiaan has. After a series of tests by different physicians, the conclusion was drawn the he might be spastic, but they couldn’t actually diagnose that for certain. He had an unknown disease and that’s why he couldn’t be treated.
Until Sebastiaan and his parents consulted Dr. De Rijk. After a lot of inquiry she discovered Sebastiaan lacked the neurotransmitter DOPAMINE.
This substance takes care of the right transport from the brain to other body cells. Without DOPAMINE moving and talking isn’t possible. Patients are sentenced to a very passive life. But DOPAMINE is easy to administer. When a patient is given this medicine, improvement will be noticed within 24 hours.
It seems very simple, but according to Dr. De Rijk, it’s not: “You have to think of it. It’s not something obvious”.
Why she thought of a lack of DOPAMINE and her colleagues didn’t, she can explain: “I’m the only pediatric neurologist in the province of Brabant. We don’t have an Academic Hospital here, so the children I treat keep returning to me. You bond with those children and maybe that’s why you’re more motivated to find a solution. The question “What’s wrong with this child?” keeps popping up in your mind. That’s why it was very emotional for me to see Sebastiaan progressing like that. Pediatric Neurology is often a very sad profession. There are many children you can’t cure, just help them with their disease”.
Sebastiaan Dekkers’ parents are so impressed by Dr. De Rijk’s work, that they opened a p.o.box-number for other parents of handicapped children. Whomever wants, they send an extensive packet with information about Sebastiaan’s disease. The thought that elsewhere in Holland (and in the rest of the world) there are children that have the same disease and aren’t treated, is intolerable to them. That’s why they seek the media. It seems to be successful, because the two new cases have found Dr. De Rijk through her TV appearances. It’s actually strange, because patients are normally referred to a specialist by their family doctor. But not all colleagues know about Dr. De Rijk’s discovery. She hasn’t published her results yet in a medical journal, which is the normal way for physicians to make their findings public.
“I’m very active in writing my findings, but it takes a lot of time and effort”, Dr. De Rijk sighs. “During the day I work at Ignatius Hospital, so I only have my nights and the weekends to write. Also a lot of research is part of it. I’m working together with the lab of the Academic Hospital in Nijmegen.
If Dr. De Rijk’s discovery becomes known internationally, it could change the lives of an unknown number of seriously ill patients drastically. Up till now children with this disease have only consulted Dr. De Rijk, but there might also be adults with the same symptoms. Whether medication will have the same effect on them, the future will tell.
Because the arrears in development will get bigger during the years, it is important that people are diagnosed as early as possible. Sebastiaan started medication when he was two years old. After that he progressed rapidly. From that it appeared that in his first two years he had been picking up information from his environment, although he didn’t seem to react to it then. According to Dr. De Rijk it’s very difficult to tell what was going on in the child. “Maybe he felt trapped in his own body, because he wanted to do things he couldn’t, but it’s also possible that his thoughts were very slow because of the shortage on DOPAMINE. We don’t know, but you can imagine that it must have been very unpleasant for Sebastiaan”.
‘I’ve always known Sebastiaan wasn’t the only one’
By Jacqueline Leenders.
“I’ve always known that Sebastiaan wasn’t the only one”, says his mother Agnes Dekkers in her home in the Belcrum quarter in Breda. Therefor she wasn’t surprised when Dr. De Rijk called her in February, telling her that she’d found two new cases of the disease.
A three year old boy and a two year old girl had been admitted to St. Ignatius Hospital and had Dopamine administered, just like Sebastiaan. Agnes: “I had an appointment with Dr. De Rijk the next day, but I couldn’t wait any longer. I had to get to that hospital!! In a short period of time we built an enormous bond with the other parents. Their children have become my children too”.
Sebastiaan was two years old when Dr. De Rijk could tell the parents that he was suffering from a rare metabolic disease.
An end came to the search for Agnes and Philip Dekkers, because none of the doctors who’d examined Sebastiaan, could give a diagnose. “But you still want to know what’s wrong with your child. Even if I had to search for twenty years, I would have continued doing so”, Agnes says, while Sebastiaan stands in front of the TV and roars with laughter because of the jokes Mr. Bean, the British comedian makes. It seems almost impossible, this energetic toddler being severely handicapped only one year ago. A normal buggy, bike seat or kitchen chair were of no use to him. “He could only sit in the laundry basket”, Agnes Dekkers tells me.
Sebastiaan was born on November 28th 1992 at Baronie Hospital in Breda. The birth went remarkably fast and the child seemed healthy. He did look a bit violet at that time and had trouble keeping temperature, but the next day mother and child could go home. About half a year later the problems started. Sebastiaan was trembling heavily and couldn’t keep his food in after dinner. Of course Philip and Agnes went straight to the doctor, but the family doctor that was on call that day saw nothing strange. The family went on vacation and there the situation escalated. “We gave Sebastiaan a rattle in his hands to cover up the shaking and trembling that was getting worse”, Agnes remembers.
Because of the often throwing up, the baby lost weight and showed dessicating symptoms. When the family doctor saw Sebastiaan after their vacation, he was immediately referred to the hospital. They did all kinds of tests on him for ten days. The results hit Philip and Agnes like a bomb: their boy would be spastic.
New tests at Dijkzigt Hospital gave the same result. Philip, Agnes and his sister Sabrina had to prepare for a life with a severelly handicapped Sebastiaan.
To make further examination possible, an MRI-scan was necessary. Dijkzigt Hospital had a waiting period of one year, but at Ignatius Hospital it was possible to have Sebastiaan admitted within three months time.
Agnes and Philip chose the fast solution, which was also the nearest-by, and although they didn’t know it at the time, they chose at that point a new life for their son. Sebastiaan came under treatment with the pediatric neurologist Dr. J.F. De Rijk-van Andel.
She’d soon found out that Sebastiaan wasn’t spastic, but it would take a lot of searching for her to give the right diagnose. Sebastiaan wasn’t doing well at that time. He had a severe attack of dyspnoea and was urgently admitted to hospital; it might be epilepsy. The MRI-scan they’d been waiting for for so long didn’t give the result they had hoped for. The cause for Sebastiaan’s disease wasn’t found.
In the meantime it had become the spring of 1994. Sebastiaan was one and a half. Agnes Dekkers: “He was like a living doll. He hung in his adjusted buggy and looked very weary. People always thought that it was his bed-time. He couldn’t hold on for more than one hour”.
In November Dr. De Rijk told the parents that only a spinal punction was possible.
She asked the parents for their permission. Agnes, agitated: “Of course we gave permission. It couldn’t get any worse than this, could it?!”
They had given up hope and were totally astonished when Dr. De Rijk told them on December 14th 1994 that she’d discovered what was wrong with Sebastiaan. Concluding from the spinal fluid, Sebastiaan lacked Dopamine, which is very rare. Not only the parents heard what was wrong with their child, but they were also told that there was medication for Sebastiaan.
Agnes: “That night it finally hit me, I couldn’t conceive everything that had happened. They’ve been searching for years to cure a terrible disease like Aids, without any luck so far. Now my son has a rare disease and they immediately have medication for it. That’s just a miracle”.
On January 5th 1995 Sebastiaan had his first DOPAMINE administered. On January 6th suddenly he corrected his posture by sitting up straight all by himself. A couple of days later he said ‘mama’ and from that moment on it changes came rapidly.
He learned to roll over and started playing with his toys. In the summer his parents bought a normal bike seat and buggy, which he could sit in straight up immediately. In August he’s suddenly standing up in his bed, and in October he climbs the settee without help. Sebastiaan learns to talk, to walk and grows into an active, naughty toddler that recently even locked his father out of the house by accident.
In his neighbourhood it starts to show that Sebastiaan has become a totally different child. For example: the family sudenly got a gift-voucher worth 25 guilders from a man, with the words: “I’ve always wanted to do something for that boy. You might buy him some toys?”
There’s yet no telling what Sebastiaan’s future is gonna look like. He has development arrears, but Dr. De Rijk thinks he’ll be able to lead a normal life. Agnes can still hardly believe it: “I’m still scared that he’ll have a relapse”. Her husband Philip: “I don’t have blinkers on: I see what he can and cannot do. You have to be realistic, but the way it looks right now, he might very well be able to attend a normal primary school”.
Sebastiaan’s wonderful story made the newspaper, his parents and Dr. De Rijk appeared on Ivo Niehe’s ‘TV Show’ and on ‘Hart van Nederland’ (Heart of the Netherlands) on the channel SBS 6. Philip and Agnes Dekkers purposely contact the media, because they think that there are more children with the same disease Sebastiaan has. They opened a post office box and receive ninety messages from The Netherlands, but also from Spain and Israel. Everyone that writes to them, is send an extensive story about Sebastiaan’s life.
Dr. De Rijk is now treating yet two more patients thanks to all the publicity. Meanwhile the Dekkers family are busy founding a parents association.
Agnes Dekkers: “Even if we can help just a few children, our goals will be achieved”.
Source: Amersfoortse Courant, March 23rd 1996 by one of our reporters.
Amersfoort girl changes from weak doll to lively child
‘Kaylee trapped in her own body’
The parents of the Amersfoort girl Kaylee can still hardly believe it. Up till six weeks ago their two and a half year old daughter couldn’t do anything more than stare. “Now she’s changed from a weak doll to a lively child”, her mother J. Timmerman tells us enthusiastically.
Kaylee wasn’t spastic, handicapped or epileptic, like the doctors initially thought. Last year a pediatric neurologist in Breda found out by accident that in Sebastiaan’s (3) case it was a rare metabolic disease. It makes that signals from the brain don’t reach the muscles. The pediatric neurologist knew how to treat Sebastiaan’s disease with dopamine, which is also administered to Parkinson’s Disease patients.
Kaylee’s parents heard in a news item and a TV-show about the success pediatric neurologist Dr. J. De Rijk-van Andel had in treating Sebastiaan. Kaylee’s symptoms were exactly the same. She was born healthy. When she was about five months old a true nightmare started for her parents. “She didn’t talk, she didn’t eat well, could hardly breathe, perspired a lot when she exerted herself and clenched her fists spastically. She couldn’t stay awake longer than one hour because of weariness. Toys lay purposely in front of her. She could only look at it”. The results of the dopamine-treatment are startling. “The first day after the medication had been administered, she started playing with a little bell. The next day she jabbered a bit”. The Timmermans family fell from one surprise into the other. They kept a diary of the Kaylee’s rapid progress. “The physician at Wilhelmina’s Children Hospital in Utrecht looked like he saw water burning. First Kaylee was lifeless, now she pulls the stethoscope and pencils fly all over the desk”.
Source: Weekly paper ‘De Bredanaar’, June 25th 1996, by Jacqueline Leenders
Number of patients is rising
New foundation gives information about ‘Dr. De Rijk Syndrome’
BREDA – Last year pediatric neurologist Dr. De Rijk-van Andel from St. Ignatius Hospital in Breda became known because of her miraculous cure of the severely handicapped Sebastiaan Dekkers from Breda. She discovered that the boy lackeddopamine. Sebastiaan’s parents, Agnes and Philip Dekkers are so impressed by Dr. De Rijk’s performances, that they started the foundation ‘The Missing Link’ (De Ontbrekende Schakel). Aims of the foundation is supplying as much information as possible about the ‘Dr. De Rijk Syndrome’, because the thought that other children have the same disease Sebastiaan has and aren’t treated, is unbearable to them. On Wednesday Dr. De Rijk was given the first folder of the new foundation.
Nobody seemed able to help the severely handicapped Sebastiaan Dekkers. The boy couldn’t sit, walk or talk. He slept or just stared a bit. The specialists that examined him, couldn’t really diagnose him. Until Dr. De Rijk-van Andel saw the child and searched until she found the cause for all the misery. It appeared that the boy had a lack of dopamine. After administering this substance, Sebastisaan really recuperated. From a passive ‘lying-baby’ he changed into a naughty toddler. “Before long he starts at mytylschool ‘De Schalm’ (a school for handicapped children)”, says his mother Agnes Dekkers proudly.
When it was obvious that Sebastiaan was benefited by the treatment, Agnes and Philip Dekkers searched the media to make other parents and physicians aware of this diasease. They appeared on Ivo Niehe’s TV Show and also ‘Het Hart van Nederland’ by the channel SBS 6 paid attention to the subject. Meanwhile Agnes and Philip started the foundation “The Missing Link’. The foundation aims at parents of children with development arrears because of a lack of dopamine. “Every child who has this disease and isn’t treated, is one too many”, is how Agnes Dekkers argues their action.
Parents that suspect their child to have the same disease Sebastiaan has, can ask the foundation for documentation. There’s also a folder that will festively be handed to Dr. De Rijk next Wednesday. The folder is made by the foundation, with approval of Ignatius Hospital.
Anyone that has asked the foundation for information in the past, or is going to do so, will receive the folder. Agnes Dekkers: “People can also get he folder in hospitals, from neurologists and pediatricians. Further more we’ve contacted the local Red Cross Services. Almost every child will have a consult at a children’s health service, where they can find out the disease in an early stage”.
To be able to make this folder, the foundation was sponsored by a well-known bank. “The managing director came to our house and saw the videotapes of the TV-broadcasts. Tears were in his eyes”, Agnes Dekkers says. For the festive handing over of the folder the news program ‘Hart van Nederland’ by channel SBS 6 is invited again. Agnes Dekkers also expects the Belgian media to come. “Parents of twenty Belgian children have already asked us for information”.
According to spokesman Luc Demarbaix of Ignatius Hospital, it’s very special that parents exert themselves like this. “I frequently meet people who, on their vacation in Roumania or Russia, are so startled by the situation in hospitals there, that they organize a big money collection in Holland. But I admire the perseverance of these people. You often see parents being very impressed at first, but who’ve already gotten used to the situation after a month.
These people are still enthusiastic, I respect them for what they’re doing”, Luc Demarbaix says. While Sebastiaan’s parents make this disease publicly known, Dr. De Rijk fills in her colleagues in other cities about the disease. When a physician makes a discovery this size, it’s customary that the findings are published in a well-known medical journal. This hasn’t happened yet, because the ‘Dr. De Rijk Syndrome’ has to be well argued scientifically. “One success just isn’t enough”, Demarbaix says. Moreover more patients with the same symptoms have applied for a consult with Dr. De Rijk, and a couple of children already benefit from the treatment with dopamine.
Because of the attention Dr. De Rijk is getting, the number of patients that consults Pediatric Neurology at Ignatius Hospital has grown considerably. Parents praise the neurologist’s enormous effort and concern.
“We’re also very proud of her”, Demarbaix acknowledges. For now the lack of dopamine will be called the ‘Dr. De Rijk Syndrome’, but according to Demarbaix it’s not really sure whether the disease will keep that name or not. “The name is actually a popular called one. A child would be brought in with the same symptoms Sebastiaan had, and the nurses would say to each other: Another one with the Dr. De Rijk Syndrome”.
Anyone who wants more information from the foundation ‘The Missing Link’, can write a note.
Source: Algemeen Dagblad, March 20th 1998, by Helga Warmels
Baby Sebastiaan’s re-birth
A moment of clear insight from his pediatric neurologist saved baby Sebastiaan from a severely handicapped life. Now his parents leave no stone unturned in order to trace down other children with a lack of dopamine. “What we do is actually a ‘thank you’ for what we received ourselves”.
Fairy-tales do exist. Especially for Philip and Agnes Dekkers. Their child was spastic, so they were told within a year after his birth. That’s why he would have to spend his days as a severely handicapped between the walls of an institution. Without any prospect on recovery. His father Philip couldn’t accept the harsh news. His son, he kept on saying, was not severely handicapped. He was just ill. Seriously ill.
One night, over four years later in a house in Breda. It’s children’s bedtime in the Dekkers family, but five year old Sebastiaan doesn’t seem to be tired at all. He can show his collection of videotapes, but then he really has to go upstairs.
Not much later he’s singing in his bed. The sound reaches the living room. Spastic? Not noticeable. Severely handicapped? Absolutely not. Sebastiaan Dekkers may walk a little stiff, but apart from that he looks perfectly normal.
And yet physicians weren’t too far from the truth with their prediction. It’s just that Sebastiaan Dekkers isn’t spastic, but he has a rare metabolic disease. That’s what Johanneke de Rijk-van Andel, working at Breda Ignatius Hospital as a pediatric neurologist, discovered.
If she had accepted the first diagnose, Sebastiaan Dekkers would have now indeed lived the life of a severely handicapped, instead of that of a lively toddler.
The problem finds its origin in Sebastiaan’s brain. Because of a disorder it doesn’t make enough dopamine. This so called neurotransmitter transports cerebral stimuli to, for example, leg and arm muscles. Without it, moving and talking is impossible.
Children with a shortage of dopamine become stiff in arms and legs and weak in the body. Furthermore their face shows hardly any expression. Officially the disease is called Tyrosine Hydroxylase Deficiency (THD), but at Ignatius Hospital they rather call it Dr. De Rijk Syndrome. It’s a hereditary disease. Both parents are bearers, even though they are healthy themselves.
Meanwhile it is found that all THD-patients have a hereditary error in chromosome 11 of the DNA.
The first few months after Sebastiaan was born, he seemed to be a normal, healthy child. The doctor at the children’s health service was very satisfied. Still, Agnes Dekkers tells us afterwards, she instinctively felt that there was something wrong. The child didn’t lie very comfortable and furthermore he had a cold right after he was born, for which he was given a salt solution for more than one year.
In his fourth month he could still push up, and sit straight up when he was bathed. ‘We still have pictures of it”.
On December 15th 1995 Agnes Dekkers first walked into Dr. De Rijk’s consulting-room. The family had been in the medical merry-go-round since 1,5 years. On Whit Sunday’s morning Sebastiaan had started trembling and from that moment on he made all kinds of uncontrolled movements. He threw up everytime after he’d had his meal.
“He sank down like a pudding. A very strange sight. He was just like a living doll. When we got out of bed in the morning, we wondered if he would still be breathing. Every morning we came into his room in anguish. How will we find him? What’s wrong with him? We really went through hell”.
One test after another followed. Within a month there was a diagnose: Sebastiaan would be spastic. Six months later Dr. De Rijk repeated the tests, without any result.
His mother however kept insisting on further research. “Everytime”, the pediatric neurologist says, “she came back to me and said: ‘I still think it’s something neurological’. It is something neurological, I thought, she’s right. So we started all over again”.
The breakthrough came a year after the first consult, when Dr. De Rijk studied a brain scan of the boy one night. “It suddenly hit me: Sebastiaan had been lying still perfectly, where other children are always waggling during an EEG. A child that’s really spastic will move with some difficulty, but it will never lie totally still. Then I realized that his true problem was a mobility dysfunction, not spasm”.
After they’d drawn some cerebral fluid through a spinal punction and the University of Nijmegen had tested it, Dr. De Rijk saw her hypothesis being confirmed: Sebastiaan had trouble moving because of a shortage of dopamine. Very soon after that they started a test-treatment.
Dr. De Rijk: “I didn’t have much choice. I could leave the situation the way it was, or I could prescribe Sebastiaan something, of which no colleague of mine could tell what the results would be”.
De Rijk chose the latter. Sebastiaan was given Levodopa, medication that’s usually prescribed to people who have Parkinson’s Disease, a disease that also causes mobility dysfunction.
The pediatric neurologist explains that THD and Parkinson show resemblances. ‘It’s just that in case of Parkinson’s it’s about a progressing aging-proce, and in Sebastiaan’s case it was a deficiency in the cerebral making of the neurotransmitter dopamine. You could say that THD is a kind of baby-Parkinson”.
The results of the test-treatment was no less than sensational. Within 24 hours Philip and Agnes Dekkers saw their boy Sebastiaan change from a severely handicapped to a lively child.
“We just couldn’t grasp what was happening”, Philip Dekkers says. “Our child moved more in one hour than he had done in the entire year before that. That was so unreal. He’d never been sitting independently, and now this! We were afraid to take him home with us”.
Johanneke de Rijk: “Suddenly there was a good eye-contact, he murmured, said ‘mama’ and started laughing, moving and touching toys”. Agnes Dekkers: “Sebastiaan was born again that day for us”.
Since then the parents have been keeping a diary of Sebastiaan’s development. To never forget that on August 18th 1995 he sat independently for the first time, and for example suddenly climbed the settee on October 7th.
“Now when I can’t give a diagnose right away”, Dr. De Rijk says, “I think of Sebastiaan, and then I know you shouldn’t give up too fast, neither as a doctor nor as parents”.
Of course she realizes that it’s not always possible to help patients so essentially. She desribes pediatric neurology as a sad profession. Only few children can really be cured. But then again it’s a fairly new profession, in which unknown ways can be walked on yet.
“So if you look closely, you’ll always be able to find new things. I think that every good pediatric neurologist has something of a researcher in him or her. It’s my job to search for the cause of my patient’s problem. Often I don’t succeed in that, but sometimes I do. Like in Sebastiaan’s case”.
On April 15th 1996 Philip and Agnes Dekkers started the foundation ‘The Missing Link’ (De Ontbrekende Schakel). With this foundation they want to pass on information about the Dr. De Rijk Syndrome. Agnes Dekkers: “What we do is a ‘thank you’ to what we’ve received ourselves”.
Because they searched the media, ten THD-children all over Europe have been diagnosed. Five of them are living in The Netherlands. Their lifestories show remarkable resemblances to Sebasyiaan Dekkers’ story.
After a series of tests the parents were told that their son or daughter would be severely handicapped, but there wasn’t a cause to be found. One of these THD-children is Kaylee Timmerman, born June 1993. In her case too the problems started when she was 6 months old, and also for her handicap the doctors couldn’t give a cause. After the girl had been administered Levodopa, her own physician saw her again. “He looked like he saw water burning”, her mother José says. “First Kaylee was practically lifeless, now she pulls the stethoscope and pens fly all over the desk”.
Monique and Frank Stoop, parents of five year old THD-patient Cindy, say that the Levodopa-treatment has given them an entirely different child. “Before she lay still on the ground. We could safely leave her lying some place to do something else for a while. Now that’s not possible anymore thanks to Dr. De Rijk and the Dopamine-treatment”.
Source: Wij jonge ouders door Helga Warmels
Some mothers are absolutely courageous mothers
When you’re pregnant, of course you hope for a healthy baby. But sometimes it appears there’s something wrong with your baby and as parents you’ll have to deal with the enormous impact of it. Agnes Dekkers has a diseased child. Now she’s giving parents in the same situation a helping hand.
Agnes Dekkers: “A ‘thank you’ to what we’ve received”
When Sebastiaan was six months old, Agnes Dekkers was told that her son was spastic. An enormous shock and a lot of worry. Further tests however showed that Sebastiaan wasn’t spastic, but was suffering from a shortage of dopamine. And that there was medication for it. Now Agnes helps in tracing other children with this deficiency.
“Sebastiaan is born twice to us”, Agnes Dekkers says.
“The first time six years ago, the second time four years ago, after he’d been given medication for the first time. That was incredible. We were told that he was spastic. And would therefor end up severely handicapped in an institution. But in just one hour’s time he started moving, more than he did in the entire year before that. Very unreal”.
Your child is spastic…
“Sebastiaan was born after just three throes. He didn’t cry, his temperature was below average and didn’t breath well. Something told me it wasn’t right. Also because he was throwing up and screaming a lot. And he felt so stiff. Call it maternal instinct. But then again, everything seemed to go well the first six months. So you wipe away your worries. Sebastiaan was growing fine. Until he had an attack. Suddenly he started trembling heavily. He was four months old. We were terribly worried, but we got the brush-off from our family doctor. We were just making a mountain out of a mole hill. According to him it was just a cold. We were about to go on vacation. That shouldn’t be a problem according to the doctor. So we went, because you trust a doctor’s opinion. However, we had better stayed home that week. Sebastiaan was shaking, his eyes looked weird… It was hell, we were so concerned about him. When we got home, he was admitted to hospital. All tests they did showed he was a healthy child. But he didn’t do anything. Just sprawling his legs. He clinched his fists, his feet pointed. What do you mean, a ‘healthy child’? Then we were told Sebastiaan was spastic. Whick shook us up awfully. It was quite a fight, accepting that diagnosis. Children Sebastiaans age started walking, me however walked anxiously into his room everyday. Would he still be there?”
Suddenly he said ‘MAMA’
“In that time I gave permission for another test, a spinal punction. The results changed our entire life. The cause was found, we were told. Sebastiaan wasn’t spastic at all. He suffers from a rare metabolic disease. Sebastiaan has a shortage of dopamine in his brain. It took some time for me to grasp what was happening. Among other things because there simply was medication for it. He got the medicine administered and a few days later he suddenly said ‘mama’. I couldn’t believe it, was afraid I was going crazy. After all, I’d always thought he would end up among old people in a hospital ward. Now we’re helping in tracing other children with a dopamine-deficit. That just happened by coincidence. Someone from the local newspaper reported that a miracle had happened. After that the ball started rolling. What we do, is actually a ‘thank you’ to what we’ve received ourselves”.
Source: Belgian ‘Libelle’, by Diane Broeckhoven
My StoryA reader tells. Agnes (36)
“My son being able to walk, is a miracle”
“Just one day after his first dosage of medication, he started sitting up straight and said ‘mama’, whereas he’d never said one word before”.
“In 1992 our son was born.
Three weeks early, after a rather troubled pregnancy. Sebastiaan looked violet, he didn’t cry and had trouble keeping temperature, but fortunately it didn’t last long. I already had a ten year old daughter, and I was very optimistic about our new family. But it wasn’t easy. Sebastiaan wasn’t a relaxed child, he always felt stiff and I could never just hold him in my arms for a while. Besides that he also threw up often.
When he was about six months old, it really went wrong. He didn’t eat and often trembled all over his little body. Because we wanted to go on vacation for a week and we didn’t trust it, we went to hospital with him. They sent us back because we didn’t have a referal. The family doctor that was on duty that day said that it was just a cold and that we shouldn’t worry so much. But that week turned out to be a disaster. Our son was trembling so heavily that during our trips we had to give him a rattle to cover up the shaking a bit. Besides that he constantly gave up his food and showed symptoms of desiccation. After our holiday our own family doctor referred us to the hospital immediately. Sebastiaan was admitted for a ten days observation.
And then the verdict came: Our son appeared to be spastic. Our world fell apart.
Especially my husband couldn’t deal with it: a handicapped child who’d have to spend his days in a wheelchair, maybe even not being able to communicate or to live independently. He was having more difficulties with it yet than me. Sebastiaan got muscle weakeners prescribed to suppress the trembling, and it did help a bit. We were referred to an academic hospital, where the same conclusion was drawn: Sebastiaan was spastic. For a more extensive test, a so-called MRI-scan under anaesthesia, the waiting period was one year. Later we found out that in our local hospital we would only have to wait for three months. Sebastiaan was one and a half by then and hardly developed. He seemed like a living doll, could hardly stay up for more than an hour and always looked weary. Weak in his body he lay staring in his adjusted buggy. He did however show some sign of temperament. When he was very angry, because he couldn’t make clear what it was he wanted, he could hold his breath very long and he even fainted. That’s why they thought of epilepsy, but it didn’t appeared to be the case. Shortly after that we found a new pediatric neurologist. A woman we’ll be eternally grateful for her discovery. The much-discussed MRI-scan of the brain was done, but nothing new came to light. In another test, an electro-encefalogram (EEG), the neurologist found that Sebastiaan was lying very still, and that, for a spastic child, she found rather peculiar. She rather thought about some kind of a mobility deficiency. In the meantime we were busy to get the necessary adjustments that would give our son a life more human-worthy: among other things, we had requested for a wheelchair and a parking lot for invalids in front of our house, because he’d become too heavy to be carried very far. The neurologist suggested to do one more test, a spinal punction. That test finally concluded what was really wrong with Sebastiaan. He had a rare metabolic disease, caused by a shortage of neurotransmitters: substantions in the brain that that move stimuli to the muscles. He was the first Dutch child known with this disease. Apart from him, there was a London girl known with the same syndrome. And the greatest miracle of all was: there was a rather simple treatment known for this syndrome, which is related to Parkinson’s Disease. Therefor Sebastiaan had the medication Dopamine administered.
A miracle happened in front of our eyes.
One day after Sebastiaan had had the first dosage, he started sitting straight in his buggy from a weak, bowed over position, saying ‘mama’, though he’d never said a word. The dosage of dopamine was further increased, but it made him so movable, we were afraid to take him home with us. But when the adjusted dosage of medication was finally found, we saw one miracle after another happening. During that period I accurately kept a diary of Sebastiaan’s progress. It all happened like a whirlwind: he stood straight up, began to crawl, to babble, got a tangarine from the fruit basket, built towers of box of bricks and locked his father out by turning the kitchen-door key!
We really want to make our son’s case known, because I’m convinced he’s not the only one. And so it appeared to be: a couple of parents recognized the symptoms their children had, and also in their case a dopamine treatment appeared to be successful. Sebastiaan’s disease is called after our pediatric neurologist’s name, the ‘Dr. De Rijk Syndrome’. My husband and I have started the foundation ‘The Missing Link’, to inform as many people as possible about this disease, because I think there might be many spastic young or adult wheelchair-users who might be treated.
Our Sebastiaan is now six years old and a real naughty boy, who, in spite of development arrears and an unstable balance, lives a normal life. That would have been really different if we hadn’t met this doctor. As a ‘thank you’ to the wonder that happened to us, we want to share this with as much companions as possible”.