Other parents' experiences

The experiences of Kaylee Timmerman's parents.

Kaylee was born on June 21th 1993. Her start was good, in spite of a bit of tightness of the

chest. There seemed to be no problems, till we noticed that Kaylee made few powerful movement, and that she could hardly keep her head up straight. Even after a call to the pediatrician in the rural hospital, there seemed to be no reason to think about something serious. When Kaylee - at the age of 5 months - became very weak after an antiobiotics cure, alarm was sounded to an academic hospital. The professor Neurology diagnosed serious problems, and many research was done. Until Kaylee was two years old, we had been searching for an explanation for her problems. Constantly there were found no clues, everything was alright. And this; seeing your child handicapped without no explicit cause, is just not acceptable for a parent!! We decided to go on with everything that was possible, but after a lot of research the chances of stating a diagnose became less by the day. Till we heard from a friend of ours in October 1995, that there had been a broadcast on the TV-channel SBS about a boy that had almost the same symptoms as Kaylee. A pediatric neurologist from Breda had made a spectacular discovery. This friend had written down the p.o.box-number that was given, and she wrote on our behalf to Sebastiaan’s parents. At that time Kaylee wasn’t doing too well, and quite honestly; we didn’t expect very much of it. Until we read the lifestory of this little boy. INCREDIBLE, so much resemblances! We decided to consult this specialist, and added a picture of Kaylee to our letter. Shortly after that we received an invitation from her, and then the miracle began for us!!! Five weeks after a spinal punction we got a call from the doctor; it appeared that Kaylee lacked the same substantion as Sebastiaan. In the meanwhile Sebastiaan’s parents had been telling about his progress in a TV-broadcast. So we knew all too well what this could mean, although we couldn’t tell if it would also go this well in Kaylee’s case of course. But we regained hope! On February 1^st Kaylee was admitted at St. Ignatius Hospital in Breda, and on February 4^th medication was started. The Saturday before that Sebastiaan and his parents had come to visit us at the hospital, and immediately it felt like we knew each other for years.

There was so much resemblance with regard to the syndrome, and with the parents of the little boy that lay in the hospital bed next to Kaylee’s, we talked about our experiences for hours. Kaylee was, contrary to the two boys, the only one that was very weak in the body. For a moment that made us doubt whether she was going to react well to the medication, but after only one day a lot of difference was noticed. It’s incredible what you’re feeling as parents at that point, after two years of uncertainty. You have to get to know your child all over again, but every day it’s great to see the enormous progress she’s making! Now she’s really starting to live!!! Both mentally and physically she’s developing very well, but she’ll need a lot of rehabilitation before the arrears will have been made up. We are devoting ourselves to that for 100 %, the future’s looking brighter every day. And with the faundation “De Ontbrekende Schakel” (The Missing Link) that Philip and Agnes are starting, we hope that more patients can be diagnosed: this kind of life’s happiness is something we grant anyone.

José and Erik, Kaylee's parents


Continued experiences of Kaylee Timmerman's parents.
 

Amersfoort, April 1998

While I’m writing this report, I realize all too well what enormous developments have taken place. From the first medication, till now - 2 years and 3 months later……..

In August 1996 Kaylee went to a therapeutic kindergarten. This was a class of rather independent children, and from day one she really enjoyed herself there.

In a frequency of 2 or 3 times a week she had her therapies (speech-training, physiotherapy and occupational therapy). She progressed well, therapists and doctors were very interested in this syndrome and followed her development closely. We as parents were also involved in her rehabilitation program. A very fine co-operation, which especially Kaylee had benefit from. In her class she was the only one that couldn’t walk independently. This was solved with a walking aid, “the walkabout”, in which she can choose her own way, fastened in belts. Man, she had a great time! When Kaylee became physically more stable we could take her by the hand and she’d walk with us. For a while we thought that she might need a walking aid permanently.

Until Christmas 1997. From one moment to the other she wanted to show her grandmother something, and walked towards it by herself. Astonished we watched it happen. Kaylee herself wasn’t even aware of it. We cried: “You’re walking!” After that it went further: from door to kitchen, etc. She kept walking, and cried: “I can do this myself!” We will never forget her sparkling eyes. This being possible, we often feel like we’re the richest persons on earth.

Also Kaylee’s mental development, that has been progressing very fast, makes us able to say that she’s equal to ‘healthy’ kids her age with the same children’s tricks. She has a healthy reasoning about all kinds of things, talks in past and present tense and her grammatical comprehension is progressing very well. Tests conclude that she is making up her arrears remarkably fast.

In January 1998 Kaylee started at the Mytylschool (a school for disabled children) were she also got accustomed very fast.

There are more expectations of her at this school, so she often comes home exhausted. Kaylee is a girl with great perseverance, using all of her energy if necessary, and sometimes this wears her out. Especially playing outside with her friends is something she really enjoys. Even if she’s tired, she goes on, just like the others.

In this kind of situations she doesn’t realize yet that things are different for her. She just wants to do what the other kids can do. Her capability to walk all by herself has given her a lot of satisfaction, and cycling (on her tricycle) or riding on a scooter or skelter is going very well now. She can really play with the others. I really enjoy that sight when I watch her from behind the kitchen window. I really didn’t expect that she could come this far. It still feels like a dream sometimes.

At the moment we’re very conscious of our pedagogical tasks, to lead her mentality a bit. She can be very naughty, and her moods can be against the grain. Of course it’s a healthy sign, but never the less difficult sometimes. We hope her development can continue like this, and we try our best to guide her in this as much as we can.

On August 11^th 1997, Kaylee’s brother was born. She’s enormously happy with him. Our son Dylan was tested by Dr. De Rijk on THD in October 1997, but fortunately he’s a very healthy boy!! We really enjoy to watch the developments of a child in his first few months, without the worries we had with Kaylee. It’s all so different now.

We were very much aware of the increased risk on THD (25 %) and we decided after our talk at the genetical centre to have no further research done during the pregnancy. THD can be treated. We both felt good about it, although we weren’t totally free from worry of course.

But no one that’s pregnant has a guarantee to a healthy baby, there is always a risk. After his birth, he immediately did fine. A lively baby. He felt strong, held his head up straight after a short while - things we watch closely now of course. When we had the final results that he was really o.k., we were definately set at ease.

Every day we enjoy these two children a great deal.

Erik and Jose, Kaylee and Dylan's parents.
 

The experiences of Mike Coenders' parents.

When I was pregnant with Mike, it all went well up till 5 weeks before the estimated date of birth. It appeared Mike wasn't growing well. So I had to rest until he was born, and 5 weeks later Mike was born on September 14th 1992. He was a healthy boy, although he didn't weigh much and wasn't very tall. After he was born Mike was trembling. To be on the safe side he got antibiotics prescribed. Fortunately it was nothing serious, so we could take him home with us.
When Mike was 4 months old the children's health centre (Consultation Bureau in The Netherlands) noticed that when Mike lay abdominally his legs started trembling. We had to tike him to our family doctor immediately. We had an appointment that same day.
Later on the trembling became worse and his arms and legs became stiff. He also didn't have head balance.
We were referred to the academic hospital, department Neurology. All tests were o.k. and nothing abnormal was seen on the x-ray's and scans. We were told that Mike would never be able to do anything. After a lot of worrying, my father called about a TV-program he'd seen on the broadcast channel SBS 6. It was about a boy that showed the same symptoms as Mike.
On December 14^th 1995 we consulted Dr. De Rijk-van Andel. Meanwhile we'd kept in mind that every child was different, and that it was possible that it wouldn't be the same for Mike, as it was for that other boy.
After Dr. De Rijk-van Andel had examined him, we got a phone call that Mike indeed lacked the substance Dopamine. We were thrilled. Finally some good news. On February 2^nd 1996 Mike was admitted to St. Igantius Hospital. Also Kaylee was there, which we'd naver hoped for, because we had been feeling all alone in this. We started talking with Kaylee's parents. It was such a coincidence that everything matched. Kaylee and Mike had several tests together.
Sebastiaan's parents also came by, that way you have a lot of support from one another. The first day the medication started we were rather nervous. You keep thinking: Will this work? In Kaylee's case results came fast, but With Mike it took somewhay longer. However, he was progressing. It was a great relief to see your child change like that. We hope that all patients that lack this substance, are doing as well as Mike is. And that a lot of patients can be helped this way. Try to keep the faith!!!

Tonny and Floor, Mike's parents
 

The experiences of Cindy Stoop's parents.

Cindy was born on the 20^th of January 1993 after a normal pregnancy and a normal childbirth. The first 3 months everything went fine, but after that time we thought: it’s time for you to show some activity. At the children’s health centre you don’t follow moving objects with your eyes, even though you are doing this at home. So it was on to the optometrist. Conclusion: just a little dreamer. When she’s 6 months old we consult the pediatrician, who immediately sees that there’s something wrong. An 8 days admission follows, including many tests like a blood-, urine- and faeces test, an MRI-scan, spinal punction, EEG etc. etc. Cindy also got a kind of corrective ‘trousers’, to correct the position of her hips, which wasn’t good. The pediatrician had already told us that 9 out of 10 times nothing’s concluded, which was right in our case. That’s why you think it will all work out.

In October 1993 we consulted Dr. Bart at the Academic Medical Centre in Amsterdam, but he couldn’t find anything either. Also an EEG was done because she had ‘spells’ (stiff, a crooked, hollow back), luckily no epilepsy, but what it was no one could tell us. In the meantime it had become clear that we had a severely handicapped child. We were also consulting a genetics specialist, again a blood test and even a piece of her buttock skin was removed, but again the results were negative, nothing was found. Cindy isn’t well, but what’s causing it no one knows. We keep on searching. At home the physiotherapy and speech-training continues. We had our house and our car adjusted. We’re still under treatment with several specialists like a pediatrician, neurologist, rehabilitation doctor, fysiotherapist and orthopedist.

Then - only a couple of days after the broadcast of the TROS TV Show - several people called us; a boy on TV shows the same symptoms as Cindy does. Because this was confirmed by several people, I made an appointment with Dr. De Rijk-van Andel in Breda. That’s how I got the address of Mr. and Mrs. Dekkers where we got the videotape of the TV Show. Watching it, we recognized so many things, sometimes I saw so much resemblance it made me shiver. Sebastiaan was just like Cindy, because of the medication his brain sends signals, which makes him able to walk and function like children his age (with arrears). On March 6^th 1996 we met Dr. De Rijk-van Andel for the first time, and she also thought Cindy was a lot like Sebastiaan. I was so relieved.

We would have to return to the hospital for a nucleair scan, but because we don’t live nearby, we could have her blood drawn and a spinal punction straight away.

On March 26^th 1996 at 9.30 a.m. the phone rings, ‘if we could come to Breda for at least 10 days?’ It appears Cindy lacks the same substance as Sebastiaan does.

Exciting, I didn’t know whether to laugh or cry. We try to think: first see and then believe, because fairy-tales don’t exist.

During our stay in Breda another EEG and a scan follow. On Saturday, March 28^th 1996 the first dopamine is administered. On Sunday Cindy’s eyes look ‘wild’. On Wednesday she moves a lot. On Thursday she turns around, after which she turns from her back to her side, from lying on her back to abdominally, picking up toys and pulling hair.

This is a totally different child. Before this she lay still on the ground, I could easily leave her lying at the chest of drawers to do a few chores in the meantime. This isn’t possible anymore, thanks to Dr. De Rijk-van Andel and the dopamine. Cindy’s become a different child.

If this had never been on TV, we’d probably never found out or at least much later, and Cindy would have been older, so you don’t know how it would have gone, given the functioning of the brain. A whole new world opened for us. Because you have a different child, your reactions change, you’re very enthusiastic about your child. When people asked me how Cindy was doing, I used to say something like: ‘Ah well, the same”. Now I say: “She’s doing great!!!” Our friends indeed see the change in Cindy and ourselves, it just shows that things at home are fine. We had a lot of tests done, and finally, after three years, they found something. It’s not just that it now has a name and that you know what’s wrong with your daughter, but it also has a remedy for it, which gives Cindy a whole new future. What that future brings we’ll just wait and see, but fairy-tales do exist, for us, and I hope for others.

Monique and Frank, Cindy's parents
 

The experiences of Frank Lenselink's parents.

Frank was born on February 2^nd 1989. The pregnancy went fine, so did the birth. Frank seemed to be a healthy baby, there were no problems.
When he was about nine months old, it occurred to us that he was very weak in the muscles. E.g. it was very difficult for Frank to keep his head up straight without resting it upon something. When he was over a year old, our family doctor shared our worry. Frank couldn't sit independently, he couldn't roll over anymore - which was no problem before. He also couldn't crawl, and the slavering was striking. The fysiotherapy which we'd already started with wasn't successful. We went to the hospital. The pediatrician also saw serious problems in his motoric development. Months of research and examinations, all without results. Meanwhile it had become clear that Frank had enormous arrears in his speech-development. Also he was often ill (flu). 
When he had the flu he lay in bed the entire day. He couldn't sit up straight because of the weariness and powerlessness. But a cause for all of this was never found. This went on for years. Frank was in a wheelchair and we had many expedients at home. Also our house had been adjusted. When he was 4 years old he went to school in Arnhem, the mytylschool. In the meantime he had learned to stand up straight and to walk a few steps on hand, but besides that there was no progress. 
In December 1995 we saw the broadcast of the TV Show. The resemblance between Sebastiaan and Frank was striking. Frank was almost 7 years old by then. 
The month after that we had our check-up at the hospital, and the pediatrician was willing to try to get some more information about this disease. He contacted St. Radboud Hospital, which led to more research. 
To our astonishment Frank was diagnosed the same disease in March 1996. After the results of the second spinal punction, Frank was immediately admitted at St. Radboud's.
On April 12^th Frank started the first L-Dopa medication. Within one day great changes were seen. He could talk quite well, he hardly slavered anymore and his sometimes cramped posture became relaxed. 
In a couple of days he was able to sit independently. He still had uncontrolled movements. This was the effect of a too large dosage of L-Dopa. It was reduced and the side effects started to disappear. The progress went on and on.
After 6 months of medication he could walk independently!! Now it's one year later. Sometimes it still feels like a dream. Frank is doing great. Everything is going better every day. He had to learn a lot, motorically speaking, but there aren't many things we have to help him with during the day. Many expedients leave our house now.
We're also trying to have him registered at a normal school. And Frank himself? Life has become one big party for him. He's a happy boy, taking initiatives all the time.
When it's time for his medication (3 times a day) he now asks for it himself. He knows all too well that this medication has brought him where he is right now.

Jeanette and Tonnie, Frank's parents