Four years old

Hello, this is Vera.

trotse 4-jarige op laatste dag TPG Sophia in Gouda

proud 4 years old on her last day at the Sophia rehabilitation preschool in Gouda

This time I would like to do the talking. Since I am already four years old, I felt it was high time. Yes, you read that correctly, I am now FOUR years old! Mom and dad have been fussing over this operation and that’s why they haven’t written about my birthday. They talk about doctors way too much anyways, I can talk about so many more things besides those people in their white coats. But all right, just so I won’t ignore mom and dad completely, I can tell you that the operation worked out really well. On the day after my birthday I had to wake up ridiculously early to go to the hospital, but I was completely ready to go. Just when I was about to put on my flattering operation gown, mom and dad made sour faces because a nervous man was telling them that the surgeon was ill.
Well, I can understand things like that, better next time. And that next time was exactly one week later. Okay, it was no picnic. I laid on the operating table for 3.5 hours and afterwards I felt like someone had been seriously messing with my skull and brain. Turns out the doctor said that he indeed had done just that (no way!) and that everything had gone according to plan. This time I didn’t need a tube in my throat after the operation, I could breathe just fine on my own, thank you very much. And therefore I didn’t need to go to intensive care, which made mom and dad very happy. But I must say, they were very busy with me. I was in pain, didn’t feel very good and felt nauseated. I made sure to let everybody know. I was given morphine through an IV and some other medication which made me feel kind of funny. But I quickly realized that laying still and sleeping a lot would be best. After that, I did my very best to recover and that worked out pretty well. I am a fighter! And so, on the third day after the operation, against all expectations, I was allowed to go home! I wasn’t very talkative yet, but in the hospital they were doing everything my mom and dad could do at home as well (that’s the cool thing about my parents) and at home I could lay against my sister on the couch. Much better.

Since then I have been getting lots and lots of compliments. Sometimes I think I should have had this operation sooner. Because you know, before the operation I didn’t really like to move my body as much. Laying or sitting down felt much better. Standing and walking wasn’t really my thing anymore. But now everybody keeps telling me what a good job I am doing walking with my walker, along the table and climbing some steps on the stairs. I tricked my mom recently. She had put me on the couch and went to the kitchen to cook. I climbed off the couch by myself, grabbed a little chair and used it to walk over to the kitchen. You should have seen my mom’s face when I showed up right next to her, ha ha! In short, the doctor wants me to visit to have a chat and check on me, but I can already tell you: the operation was a success.

Mom and dad still frown when they see the positioning of my feet, I don’t seem to be standing particularly straight or stable. But, hey, one thing at a time. They’re probably going to drag me to the doctor for that as well. They are already talking about an image of my lower back and something about Achilles tendons that are too short and casts for my feet. We’ll see what happens, for now just let me do what I can. I am not crying as loudly at night and my legs hurt less than before, it feels much better now.

But, like I said, I have much more to tell you: That I left the Sophia rehabilitation preschool for instance. I have had a wonderful time there with the sweetest teachers I could imagine. But I think I outgrew the place and I wanted to broaden my horizon. When you do something, you gotta do it right, so instead of a preschool I chose a school in Rotterdam (my dad is pretty happy about the Rotterdam choice, because he works there and feels very at home in that city). The school is called mythylschool De Brug (school for children with special needs The Bridge) I am in Ms. Corrie and Ms. Mieke’s class, which is quite funny because I also have an aunt named Corrie and a sister named Mieke! But to be clear: they don’t look anything alike. There are 7 other children in my class, we’re all buddies because some of them are in wheelchairs, are taking their time to learn to speak or need time to learn something. I feel right at home. And I act like I’ve been going there for months. That’s what the teachers also say about me. In reality I have slowly been adjusting to school after the operation and for now, I go 4 mornings per week and we’ll probably keep it this way for a while. Those four mornings are pretty intense! My energy levels are not top level and sometimes even I forget that my heart acts out throughout the day, sometimes it beats super fast and then it beats normally again. At my new school, we do really fun activities: we sit in circle time, hang up pictures of the things we will do that day, we go to the play room, read books, we go swimming (yes, for real: a swimming pool at school!) and we enjoy listening to music. I have a slight suspicion that I’ll have to do several types of therapy work soon, but for now I think this is already quite enough.

And there is something else I want to tell you: Mom took me to school the first couple of times, but now Janna takes me there. Janna is a cheerful early bird with a huge white van, which she parks in the middle of the street, no problem. I go and sit in my stroller like a queen, then get into the van with a lift and wave goodbye to mom and dad: Bye!! Inside the bus it’s really fun, because lots of other friends from school ride along also. I must say that I am starting to get a bit jealous when I see kids on the bus and at school in wheelchairs. I mean, I am FOUR years old and they still put me in a stroller, that’s why some people still call me a baby. Come on! I think it’s about time I switched out my ride, so my new occupational therapist and I are looking to see whether we can find a mini wheelchair for me. Mom does still pick me up every day, when I go home at lunch time. I’m so happy I get to travel home with my mom. I really like to talk about my day and about who is going to be where and who will be with me. It makes me feel better when I know what to expect.

Well, by now you’ll understand that we’ve had some busy weeks in which a lot has happened. At night, I like to process everything. Unfortunately, this makes mom and dad look a bit tired during the day. I get to see them about five times a night when they comfort me or take me in their laps. Oh well, it will all work out. In the mean time I’ve decided to celebrate all of this by eating ice cream and chips again and by practicing my swallowing skills. And that is so much fun, especially with my big sister Mieke. I say: Bring on the warm spring days! I scream, you scream, we all scream for ice cream!
Lots of love and talk to you later, Vera.


Experiences in Manchester

Report from the 2015 conference in Manchester: first part is generally (with some pictures), last part are details of the lectures (with some pictures of the presentations)

There was good atmosphere and it was educational, confrontational, busy and emotional…the Costello syndrome conference in Manchester was many things at once. First and foremost, it was once again special to meet other people with the syndrome. In The Netherlands we know 3 children besides Vera with Costello, being in the UK we could add 10 more with ages ranging between 2 and 30. All from different European countries. Because our children all look so similar and because we are dealing with such similar difficulties in our lives, these people quickly become family. We are able to have deep conversations quickly, where we share experiences and exchange tips. It instantly feels like we’ve known each other for much longer.

In some cases it gives us hope to see examples of what awaits Vera as she gets older and in other cases it can be quite confronting. Orthopaedic problems are fairly common, walking is possible for most people with the syndrome, but most use a wheelchair as well. Speech and language capabilities can vary greatly. And not everyone will be able to graduate from tube feedings. It became clear that, while the syndrome causes many similarities, every child or adult follows their own path with its own challenges, talents and limitations.
At this conference there were also about 20 families with children who have CFC, a syndrome that’s closely related to Costello. And again we had wonderful exchanges and saw many similarities, but also different challenges.

The days were planned so that there was time to spend time with the families, but also to attend lectures while there was a children’s program going on at the same time. Niels and I took turns attending lectures and spending time with the children. We’ve learned more about the increased chance of developing tumours, about autism and ADHD and the new knowledge about the decreased amount of growth hormones. We also heard about what was discussed during the American Costello conference in Seattle that took place earlier this year. We feel we moved up a notch again in our education about Vera and the Costello syndrome.

A direct effect of the information we gained during the conference is that we will look further into the shortage of growth hormones. Besides the fact that people with Costello syndrome tend to stay small, we now know that they have a shortage in growth hormones as well. This manifests itself not only in a completely different growth curve (Vera is now even deviating from the adapted CS growth curves), but also in impaired bone growth, less muscle mass, lack of energy and disrupted blood sugar levels.
We learned from two blood tests in the past that Vera’s levels of growth hormone are very low. Next week we will have a test to measure whether it truly is a shortage. If that is indeed the case, we are thinking of supplementing because it could improve her quality of life. This does mean she would need daily shots of growth hormone. We will wait for the test results and will consult with the endocrinologist to see what’s best for Vera.

And finally: a big thank you to our sponsors!
Thanks to you we were able to attend the European Costello conference in Manchester. We came back feeling enriched.
And with a suitcase full of fake spiders that have given me a fright on several occasions since then. (The spiders were from the Halloween party on the last night of the conference.)



= Details from the lectures for other parents, photos of presentations below =

De first lecture was a general introduction by Dr. Emma Burkitt-Wright. She talked about genetics, in particular about the RAS-MAPK pathway and the differences between CS and CFC (since it was a joint conference) and how common these syndromes are estimated to be at this moment.
Things that stood out for me (Niels):

  • a lot more attention is paid to low blood sugar levels in the US and the UK. (this has never been a big area of interest with Vera. Her blood sugar levels were checked recently but turned out not to be an issue for her. We have heard the same from other Dutch families).
  • It became clear that orthopaedic problems are of much greater concern with CS than with CFC.
  • The numbers associated with heart problems in people with CS (see photo of sheet) are impressively high, in particular the enlarged heart muscle (cardiomyopathy) in 60% of CS cases.
  • For further monitoring of the complications of CS it was recommended to have ultrasounds done 4 times a year to catch possible tumours at an early stage. This has been done with Vera as well. It was recommended to keep doing this at this frequency until the age of 7 after which the testing could be done less often.
  • A head MRI was also recommended, possibly to detect chiari malformation. We suspect Vera will get this MRI in the coming weeks.
  • And finally the importance of a support group for parents was emphasized (a lot of valuable information gets exchanged there, information doctors may not have direct access to or information about which nothing has been published yet), we can only confirm this!

The second lecture was given by Dr. Bronwyn Kerr, an authority in the field of CS research. She gave us an overview of what was discussed at the CS symposium in Seattle earlier this year. What we learned from the Seattle overview:

  • heart monitoring should be life long, the frequency can be lowered as the person gets older.
  • there are adapted growth curves for CS, if growth deviates from these curves, testing is recommended to determine growth hormone levels present in the blood. Supplementing with growth hormone is only beneficial if there is a shortage, which is then only supplemented until normal levels are reached.
  • the topic of hypoglycaemia when giving several tube feedings a day was brought up
  • she talked about nutrition and the lack of causal effect between vitamin C, fish oil, ginseng, co-enzyme Q etc. and improvement (more research was needed for further evidence, it can be hard to determine which factor contributed to improvement).
  • improvement of bone density with vitamin D: research has been started to determine the relationship, early outcomes have been varying.
  • hips: it was recommended to check the hips periodically (annually or twice a year through x-ray, during the first months it can still be done with ultrasound) in particular if tethered cord is present. Instability of the knee is a known fact and should also be checked by the paediatrician (being able to stretch the knee fully).
  • skin problems were discussed as well; this doesn’t apply to us yet, but useful tips on the sheets about the use of alcohol free products to make sure the skin doesn’t dry out further (in particular with shoes).
  • from family surveys in Seattle we learned that arrhythmia often improves after age 4 and speech improves after age 10.
  • anxiety disorder is present in many children, some benefit from the use of the medicine Prozac.
  • for behavioural problems the medication Clonidine is often used. Or medication that is often prescribed for ADHD.
  • sleep problems are a common issue that occur often in many and for long periods of time. Several types of medication are being used, the early years are the hardest. This is an issue that deserves more research as it has a huge impact on the lives of parents and children and is a heavy burden.
  • several studies are currently being done with a mouse with characteristics of CS and NF1 (important to test treatment and influence of signals in the cells), for Noonan syndrome there is a fruit fly model (a lot of information about treatment and how the cells react was gained from this, because it could be repeated quickly and often).
  • there are important developments in the HRAS splicing study (and removing exon2). I do not have sufficient DNA knowledge to expand on this.

The next lecture was by Dr. Peter Clayton about growth differences and treatment. In short (by Leonie): people who are affected by CFC and CS have small stature as a result of their genetic makeup. Decreased amounts of growth hormone can also be present. Dr. Clayton advocated to supplement with growth hormones, if this was the case, until normal levels are reached. Not necessarily to gain height, but to improve quality of life in the first place. Growth hormones regulate growth, blood sugar levels, bone growth and muscle mass. With CS there is often fear that growth hormones would also increase the chance of developing tumour cells (with an already increased chance of cancer). No evidence of this has been found. The thickening of the heart muscle does deserve special attention, however.

Dr. Shruti Garg did a study in the UK on behavioural problems in children with CFC and CS. The last lecture I attended was about this. Behavioural problems appear to be fairly common. The large majority shows signs of AD(H)D and autism. Dr. Garg stated that it could be very beneficial to seek a separate diagnosis. Often, the behaviour is grouped under the characteristics of the syndrome. If a separate diagnosis is attained, more concrete treatment can take place with behavioural therapy and/or medication.


Koninklijk kwartet

Het is veel te lang geleden dat we een update gegeven hebben van ons avontuur met Vera. Dat komt omdat er best veel gebeurd is. We proberen met terugwerkende kracht nog wat berichten te plaatsen. Zowel informatie voor onze familie, vrienden en bekenden, als voor andere ouders met een kind met het Costello Syndroom.

Maar op dit moment gaat het eigenlijk heel goed. Vera maakt echt nieuwe ontwikkelingen mee en wordt qua gezondheid steeds sterker. Dit jaar is Vera ‘nog maar’ twee keer in het ziekenhuis opgenomen geweest, waarvan een voor een studie naar haar slaapgedrag (zie foto onder aan dit bericht). Ze is dus echt minder vatbaar voor ziektes en veel onderzoeken uit het verleden hebben geleid tot een goede behandeling of effectieve medicatie.

Intussen is ook haar allergie op melkproducten getest middels een provocatietest. Daaruit kwam dat ze (niet meer) allergisch reageert op melkproducten. Dat maakt het aanbieden van eten een stuk makkelijker! En ook onze zelfgemaakte sondevoeding kunnen we nu aanvullen met bijvoorbeeld koemelk en kaas.

Daarnaast wordt Vera 4x per jaar behandeld voor broze botten (infuus met bisfosfonaten, een dagbehandeling). Uit de zogenaamde dexa-scan waarmee de relatieve botdichtheid gemeten wordt, bleek in januari dat de dichtheid van haar botten ‘significant verbeterd is’. Daar zijn we superdankbaar voor! En het maakt dat Vera nu naar 2 behandelingen per jaar mag.

Eigenlijk komen nu steeds twee medische zaken terug: haar slaapprobleem en terugkerende oorontstekingen. Om met het laatste te beginnen: Vera heeft zeer smalle gehoorgangen die snel verstopt raken. En daardoor ontstaat een ontsteking, die erg pijnlijk en vervelend is. We leren steeds sneller de symptomen te herkennen zodat we met druppels kunnen starten of de KNO-arts consulteren. Veel meer is hier nu niet aan te doen: ze heeft al buisjes die goed werken, en een gehoorgang breder maken is een serieuze operatie die niet zomaar uitgevoerd wordt. We hopen vooral dat met de jaren en beperkte groei, dit probleem zal verminderen.

Het probleem met slaap is begin dit jaar serieus onderzocht met vele sensoren op haar hoofd, banden om haar buik die de ademhaling en beweging registreerden, plakkers op haar gezicht die spierspanning registreerden, een camera en hartplakkers. Heel veel data is verzameld, maar er is geen verband gevonden. Er is gelukkig geen sprake van apneu (ademstops), onwillekeurige spierspanningen, bijzondere hersenactiviteit die wijst op een vorm van epilepsie of hartritmestoringen die anders dan anders zijn. Dat was dus een opluchting. Tegelijk waren daarmee de onderzoeken wel een beetje klaar. Dat maakte dat er nog maar één praktische oplossing overbleef: slaapmedicatie. Een middel dat niet erg gebruikelijk is en waarvan het effect van langdurig gebruik ook niet precies bekend is. Maar wat de artsen wel verantwoord vinden om te geven, omdat vele malen per nacht wakker worden voor zowel Vera als voor ons als ouders niet langer kan. Het middel werd in het ziekenhuis gegeven waarbij nog wat bloedwaarden werden gecontroleerd en wederom de ademhaling en het hartritme. Dat ging goed en voor het eerst in laaaange tijd sliep ze een paar uur achter elkaar! Daarmee gingen we vol goede moed naar huis.2015-05-22 21.51.17-2

In de afgelopen weken hebben we dit verder moeten afstellen. We hebben een ander gezin in Groot-Brittannië gevonden die hun kind ook hetzelfde middel gegeven hebben voor langere tijd. Dat is erg fijn en we hebben wat informatie uitgewisseld. Inmiddels slaapt Vera daardoor steeds beter. En dat heeft veel positieve effecten. Zoals meer aandacht voor lopen: daar zullen we later nog een ander bericht aan wijden.

Hoe gaat het intussen en is alles wat rustiger dus? Ja en nee. Ja: minder ziekenhuisopnames, minder ziekte en minder heftige, plotselinge bezoekjes aan een arts. Nee: bij een verkoudheid of buikgriep moeten we alert blijven op bijvoorbeeld ademhaling en gevaar voor uitdroging. En nee: er is nog veel dat we moeten regelen (verzekering, apotheek, aangepaste schoenen, formulieren, machtigingen, recepten en bestellingen enz) en er zijn nog meer dan genoeg checks. Zoals afgelopen 2 weken waarin we een koninklijk rondje zorgverleners deden. Eerst ons vaste Wilhelmina kinderziekenhuis (WKZ) in Utrecht voor een echo (driemaandelijkse check op tumoren), dan het Willem-Alexanderziekenhuis (kinderziekenhuis in het LUMC) voor controle van haar hart, dan het Maxima-centrum voor gesprek met de oncoloog (preventief, onderzoekt urine op sporen) en dan hebben we veel contact met de Sophia Revalidatie. Een koninklijk kwartet!

Bij de Sophia Revalidatie komt Vera inmiddels twee keer per week en heeft daar een therapeutische peutergroep waar ze ontzettend veel leert en beleeft. Een fantastische plek waar ze intensieve begeleiding krijgt en gestimuleerd wordt. Daarvan zien we stapje voor stapje vooruitgang. Letterlijk en figuurlijk. Want zelfs aan lopen met een rollatortje wordt gewerkt…

Hieronder wat foto’s van februari; in een volgende post nieuwe foto’s van haar verjaardag! (Tip: klik op een foto om een vergroting te zien met een beschrijving!)


slaapstudie in ziekenhuis, bundel sensoren op haar hoofdmaandvoorraad medicatie en spuitjestekenen in ziekenhuis tijdens opnamevera tijdens behandeling met bisfosfonatenkiekeboe!kiekeboe!fietsen in ziekenhuis tijdens onderzoekblended diet, eigen sondevoeding maken voorraad sondevoeding voor een paar dagenweet thuis, tekenenvera in de snoezelruimte van het ziekenhuisfotomodel ontdekt de camera...