Tagarchief: Potocki-Lupski Syndrome

Keep calm… (2019) (English version)

By Nathalie Foppen

One year has passed again, so it’s time for a new blog, today on World PTLS Awareness Day (March 8th)! Every year, of course, there are huge milestones for the now 14-year-old Jelle. But this year there were a few very strenuous ones.

Home alone
Last year Jelle increasingly wanted to be home alone and that went very well. By now it’s going so well that he really wants us to be gone as often as possible! First we practiced keeping and using the key: motorically he was not very handy with that. Jelle has a huge sense of responsibility: he’s very careful with his stuff, so he never lost a (bicycle, locker or house) key ever! And he wants to learn. He indicated earlier that a phone would be very useful now for all involved, so he got one. Practicing how he can call us, and how to send voice messages through WhatsApp. He now finds it so peaceful to be home without us, that we reduced the after-school-care from 3 dayparts a week to 1. What he does need when he’s alone, is an interim prognosis of our homecoming, but he never wants us to come home immediately. What a step forward in his independence!

Matters of the heart
There have always been stress-triggers with Jelle. It used to be the hairdresser, so we had one coming to our home. He can now go to the regular hairdresser. Then it was the dentist, so we went to a patient pediatric dentist for a while. Meanwhile, we can visit the regular dentist around the corner. Now the hospital is thé nr 1 stress factor, not surprising of course. Earlier we went to the pediatrician every six months, then once a year and in the last few years only if we were worried about something. That went well. We did heart research every couple of years in the Children’s hospital, but that was always stressful for him. There were 3 distinct heart defects: a narrowing in the aortic arch, a heart valve that looked abnormal and an opening in the ductus (it usually closes after birth). Reasons to be alert. There was already talk of placing a stent, but because there were no pressing medical issues, it was a possibility for later on in his life. In September, the medical team thought it would be better to already place the stent and to eliminate the narrowing now before the abnormal valve would come under more pressure. That was a shock, of course, but also logical, so we agreed. Preliminary surveys had to be planned and the intervention itself in November, including an overnight stay.

You can try to be lighthearted about it to Jelle, but because he doesn’t know exactly what is going to happen, his stress level simply is sky high. We have planned an extra ‘talk only’ morning, to prepare him as well as possible, to have him ask questions, to show everything. But … it builds up, until it’s his turn (for whatever examination) and then the bomb will burst; he will cry and be angry (to his parents). Inhale, exhale, don’t think too much and just get through it with all our strength. He has endured it all as bravely as possible. What you can do, you’ll do; be with him, reassure him, show understanding for his grumbles, questions and worries, make jokes, comfort him, get him his favourite sausage rolls… He raced out of the hospital the next morning; get me out of here! Of course it was nice that he had a week off from school and got some beautiful Lego, but he was really ‘spooked’ in the days after, it was very intense to experience, for all of us. The stent is placed well, and it seems big enough to stay there if he is an adult. The ductus is closed, but 2 valves are abnormal, so we’ll remain alert.

‘Grandma is with the dolphins’
Our kids had little to do with death in their lives. Unfortunately, their great-aunt died in October, and only a few days after the stent-procedure, their grandmother (my mother-in-law) died. What is death then? And where are people who have died now? According to Jelle, grandma is on a nice warm beach with the dolphins. What a wonderful thought. Jelle certainly did not want to go to the funeral of his great-aunt. But he attended the service and funeral of his grandmother. We talked about it, and both kids dealt with this loss completely different. Jelle didn’t want to see his grandmother after she had passed, but he helped out during the service moving the coffin and lighting a candle. He was amazed at the many acquaintances attending the service, and was completely captivated by the mechanism by which the coffin went down into the grave. He thought it was a nice day, but he was sad for everyone who had to cry, especially for his brother. We did not see Jelle grieving, even later on he was not sad. In the following weeks he was mainly concerned about one of our cats dying. That he is very afraid of that and how sad he will be. We do not try to explain it all too much; he talks about it and deals with it in his own unique way.

Energetic adolescent
Mr. Jelle has saved up a long time and bought a cool playseat for racing on his Playstation4; he is the best PS4-Formula 1-driver we know! He is still a big Max Verstappen fan (Dutch Formula 1 driver), so we will see Max again like every year during the Race Days in Zandvoort. He still plays soccer every week with great pleasure, he loves (ice)skating, bowling, swimming, music, the Dutch island Terschelling, our cats and his brother. He is cheerful and enjoys going to (his great) school. His body is transforming big deal now, and although he often is very charming, he now gets cheeky sometimes, calls us a ‘soup chicken’ or ‘dude’, and he always forgets to put his braces on. But hey, if puberty continues like this, I will be very glad. I am only too proud of this energetic dude.

PTLS+ (2018) (English version)

Every year on March 8 it’s World PTLS Awareness Day! A perfect moment to reflect on another great year for this Dutch family, in which both our kids, especially Jelle, experienced so many developments again. ‘Blown away’ is the best description for it.

Leave me alone
We have a 13-year-old adolescent in tha house! Healthy annoyed by his parents and with a growing dislike of ‘going with our flow’ ofcourse. Staying home alone was always a huge disappointment. No matter how short it was, it just did not work. On every attempt Jelle stubbornly (and bravely) indicated that he was not coming with us to the store or bringing his brother to school. The time timer was set, instructions given for when he didn’t feel comfortable etc. Minutes after we left he would imagine that we had gone on vacation without him, he would panic and be in tears at our return. That was therefore no option. But ever since his brother went horse-riding, he stays home alone, with success! Jelle thinks that horses are no fun at all and coming along is a waste of his time: “I will NOT come anymore and stay at home without you!” And it’s going really well. He knows how to tell the time now, so two huge milestones for him! Mr Jelle now wants a mobile phone, ‘because then you do not have to worry about me, mom!’ Smart thinking!

Big savings
He receives 3 euros of pocket money every week. And he reminds us strictly, because we sometimes forget. Jelle had a big goal: to save money to buy a PlayStation 4. OMG, a game computer in my house? But okay, it’s your money … Our big saver (and Max Verstappen fan) has recently saved enough money to buy it with of course a Formula 1 game! What an achievement! With his brother he is now racing shoulder to shoulder in front of the TV, or Minecrafting in their self-built world. Jelle can not read (he sometimes recognizes words), but he is so very handy with every device in our house.

Freshman year
The step to secondary school (special education for 13 -18 year olds) went fantastic! And the new school and schoolteam are really great. There is a lot of emphasis on responsibility, independence, solution-orientedness and teamwork. And he is also experiencing enormous developments there. He used to get upset very easily after even the slidest conflict with a classmate or teacher. Now he processes it much better and faster, it does not get to him as much. Jelle was and is an enthusiastic student! His teacher asked us about his future, whether we foresee him in an assisted living project, for example. Absolutely! The future, yes … That is where the apprehension comes in: one day we will not be here anymore to help him. It scares me so much! So, for this reason, we grant him a place of his own in such a project in the neighbourhood with a nice daytime program. When and where that is, we will see. We will do everything to make that possible for sure. Fortunately, he is just 13…

So much more than PTLS
Jelle is a happy child, and how awesome is that! He overcomes all his fears. Crying at the first visits to the orthodontist. It took so much for him getting used to several bracelets (now on his 3rd). But he now cuddles the orthodontist when he leaves, my sweet charming prince! A mind of his own, with a growing self-confidence. He gave up his dancing classes after a great dance show last April, because he wanted to play in a soccer team (and that was not suggested by us). Since last May he plays in a great G-team (G=for disabled people) at a really nice soccer club. No matter how harsh the weather is, soccer training never gets cancelled and that is a good thing for his slender body, he is getting stronger every day. He wants to take skating lessons as well and go karting to be the next Max Verstappen. This wonderfully cheerful boy who is much more than someone with the Potocki-Lupski Syndrome, he is Jelle!

The magic of Potocki-Lupski syndrome (2013)

By Nathalie Foppen, Holland


January 2010 – Wilhelmina Children’s Hospital in Utrecht, Holland
“Your son has a genetic disorder. He has a bit too much gene in chromosome 17. Thus he has what they call the Potocki – Lupski syndrome”. You just gaze at the clinical geneticist and think: “What is he talking about?” Honest to say that I didn’t pay much attention in biology class, I mean genes, chromosomes? Next thought was: “So it has a name.” And immediately after that:”Darn, there really is a medical explanation for what is going on with Jelle…” Jelle was almost 5 years old at that time. We had searched for 2.5 years for an explanation. We were sent from one doctor to another by people, experts, indicating that “something was wrong” with the way Jelle was developing. In my heart maybe I knew something was off, but I still took everyone for a fool who said so. And waiting for the outcome of the genetic research I still hoped the man would say: “It’s just a developmental delay, he will get over it in a few years.” Nope, none of that. So, PTLS?

There was little information on PTLS available, only the research from the United States, so we received some prints in English. I was three months pregnant at the time, and so we were tested as well. We didn’t carry the deviation, so changes were very small for Mick-to-be to have PTLS as well. Then our long quest came to an end and a new one started, for what is PTLS, and what does this mean for Jelle, and for our family?

September 2013
Jelle is 8 years old now, and his brother Mick just turned 3. We’ve been through a lot, and indeed it was “river deep, mountain high”. Above all Jelle is very special. We have experience some great positive stuff with him, because of his ways. We’re all a little different and that’s a good thing. Jelle can put a smile on a bus packed with strangers on the other side of the world just by getting in smiling and call out in Dutch, without any hesitation: “Good morning, my name is Jelle! ” A man replied in Dutch (!): “Hi, my name is Kees”. Jelle: “Hey Kees, smeerkees!” (Dutch rhyme). His way of making contact is charming and touching.

But life is not always easy for him, nor for us. Why did he had to leave his old school, close by in our own town? How can I explain that to him without harming his self confidence? He just started at his new school in the city of Utrecht, switched from special education to a school for kids with severe learning difficulties. All these new impressions to process and he handled them so bravely. It was tougher on me than on him, it seems. It feels like we have to lower our expectations time and time again. Our worries increase where the level of his education decreases: will he read and write, will he get a job, will he be able to live independently (or guided), what if we are no longer on the planet?

PTLS in daily life
What does PTLS in daily life imply? Jelle is 8 years old, but he looks younger. A geneticist said he could tell Jelle had a chromosome- or gene deviation because of his face (position of the eyes, width of the nose bridge). But when he said he didn’t look much like his parents I almost strangled him! Come on, how can you say that out loud? He looks like me of course! Jelle is a slender boy with remarkably long arms, legs, fingers and toes. His length is below average (but his mom is small too). Low muscle tone makes him insecure when it comes to his balance and he has little muscle/ strength. Learning to climb, swim, cycle etc. is pretty scary to him. The more special that he (carefully) does do all those things. His fine motor skills are weak, so he’s not motivated to do crafts and writing for example. Learning something new is just hard for him, almost uninteresting. The intrinsic motivation is often lacking to learn something or to get better at something. He cannot or will not? We can’t always tell. Sometimes he literally needs a push in the back, and sometimes we push him too hard. At school he gets physical therapy for gross and fine motor skills. And speech therapy because he doesn’t always articulate clearly and his vocabulary is limited.

Time is a difficult concept for Jelle. He can read a clock (half and whole hours), he knows there are 7 days in a week, 12 months in a year, but applying this knowledge in daily life is complicated for him. His stress peaks when we have to catch a ferry or plane in the afternoon or evening, afraid we will be too late. We use a monthly calendar that shows what day it is and what happens on the day and during the week.

Jelle is also sensitive to (sun)light . At the dentist he wears sunglasses (his little brother does that too now, just for the fun of it. The sun can really hurt his eyes. Jelle has a mild heart condition; the duct is not closed completely, he has a narrowing in the aorta, and he has a relatively small heart valve. Every year he had to be examined, I was always anxious about that. Now we can return when he is 10 years old. He exchanged his teeth at the age of 4-5 and he has weak enamel, so his molars are regularly sealed. His intelligence is low, his IQ ranges between 50 and 70. We try not to fixate on IQ tests too much, but they do give us an indication of his capabilities. In particular, his short-term memory is weak. Remembering names is especially difficult. But he may suddenly remember a detail of something that happened three years ago. And sometimes he has a seemingly irrational fear of something, like the barber. A visit to the hairdresser is a really awful experience for him. Now she cuts his hair at our home and the fear is (almost) gone.

Yes, Jelle is a child with limitations, but also the opposite: he is unbounded, and lacks our social embarrassment. He’s funny, sweet, kind, obedient. He’s a great brother to Mick, helping him out where he can, protecting him and they are very close. And to his parents he is indescribably sweet. Every day he tells us how much he loves us, that we’re so sweet, that I look nice, that I’m a cool mom! Complimentary like no other and a huge hugger. He is also good with electronics; the PC , the Nintendo DS, the tablet. Great to see what he’s capable of without being able to read yet! I dislike the disorder, ofcourse, but I love the way Jelle is despite of it. How proud we are of this magical guy, who surprises us every day! I read it more often in blogs and messages by parents with a special needs child: I didn’t want to miss out on this experience and this child. It changed my view on parenting and it also confronted me with me. Patience is not a strong suit (in Holland we say: it’s not in my genes, so mom has a genetic disorder as well. But Jelle teaches me, PTLS is forcing me. And that’s the magic of PTLS!

More info
PTLS Outreach Foundation