Costello syndrome belongs to the so-called RASopathies.
Below is a very informative video, which explains this complex issue. So that’s why we want to share this:
Four years old
Hello, this is Vera.
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.
-
- trotse 4-jarige op laatste dag TPG Sophia in Gouda
-
- verjaardagstaart
-
- operatie voorbereiden mbv Poes
-
- klaar voor de operatie aan Chiari
-
- na de operatie hangen op de bank
-
- Vera met schooltasje
-
- om 07:30 komt de bus haar ophalen voor school
-
- de bus in
-
- aankomst bij haar eerste schooldag
-
- Vera in haar klas in Rotterdam
-
- Vera aan haar lievelingseten; chips
-
- trots met grote zus in dezelfde kleren 😉
Chiari malformation Type I
After waiting for 4 months, Vera finally had an MRI scan done recently of her back, spine and head. Towards the summer of 2015, Vera had been making progress with walking with her walker and had started potty training. 
But it turned out summer was her best moment. In August she started regressing again. She made it clear she was in pain more often (during the day, but also at night, despite sleep medication she would wake suddenly and cry loudly), she didn’t want to sit on the potty any more and was walking less and less. She went from walking from the garden gate to the square near our house to a few steps in the living room and sitting or laying down again, simply because she couldn’t do it. She often pointed to her leg or knee hurting and made the gesture for doctor. This was not only noticeable at home but at her therapeutic preschool as well.
So in September we prompted a call to action and requested an MRI after consultation. In the first place because we thought she might have tethered cord, where the spinal cord is abnormally attached to the base of the spine and the spinal cord can’t move freely. A common problem often associated with Costello syndrome. Most of her symptoms would fit this diagnosis. They looked at her head as well during the MRI because chiari is another known issue often associated with Costello syndrome.
To make the story complete: the scan for tethered cord was needed regardless, because the positioning of her feet was getting more and more off and her Achilles tendons appear to be too short. This can be solved by stretching, putting her feet in casts and stretching little by little. But this can only be done when tethered cord is ruled out, otherwise it will only make things worse. This option is still a possibility in the coming year to correct the positioning of her feet and to hopefully improve her walking.
In short: the MRI was part of a careful consideration in the correct order of tests based on her complaints.
But the results of the MRI, two weeks ago, were unexpected. There was no tethered cord. But the MRI did show a cavity in the medulla oblongata (located in the hindbrain) and a mild chiari malformation.
A chiari malformation is, in short, the downward displacement of the bottom part of the brain through the opening at the base of the skull. In Vera’s case it’s the cerebellar tonsils and it’s mild (there are lots of people who have this but the condition can remain unknown because there are no symptoms). But, combined with the cavity (possibly a cyst) present in the medulla oblongata, this could very well be the cause of Vera’s symptoms. Because we don’t have an earlier MRI, there is no point of reference or comparison, which makes it impossible to pinpoint when this may have started to develop. The cavity in the medulla oblongata (syringomyelia) in particular can cause a lot of symptoms in vital functions such as waking/sleeping and loss of strength in the limbs. Problems with swallowing, pressure in the ears, headaches, painful bowel movements (due to pressure in the spine) and vision problems are also mentioned. These are all symptoms that Vera has, so there could be a correlation. We were quickly invited for a consultation with the paediatric neurosurgeon.
During a good conversation we quickly agreed to operate. Part of the cerebellar tonsils have slipped through the opening at the base of the skull into the spinal cavity. There is not enough space in the skull itself for the cerebellum and therefore more space has to be created in the skull bone. To speak with the words of the surgeon: the operation will be ‘bone only‘. Fortunately, the membranes and the brain itself will be left alone so there will be less risk.Nonetheless, we are about to embark on a very scary operation, possibly even before April.
I may be able to write this down in a technical and calm manner, but for us as parents (and big sister Mieke of course) these are scary and trying times. Making sure you are ‘reading’ your child correctly, having critical conversations as parents about what we are seeing and whether or not we should take action, the blurred overall picture because so many other medical issues are going on with Vera and could be causing similar symptoms, the difficulty in communicating with her to find out what is and what isn’t bothering her, the many phone calls and car trips to the hospital, conversations with doctors and the medical tests all drain our energy. Not to mention the emotional toll it has on a parent to watch your child cry many times a day because she is hurting somewhere inside her body. The past couple of months we have walked around with her and held her very often. Not counting a couple of hours of continuous sleep at night, we basically have had to comfort her hourly, holding her with her head on our shoulders or in our lap to get her comfortable again. Every day.
So oddly, we feel a sense of relief that, after the process of worrying, taking action, testing (while doubting all the while whether all this invasiveness is really necessary) and waiting for the results, we finally have a conversation with a possible course of action to solve the problem. ‘Cause in the end, that is what we want: to improve Vera’s quality of life. And in doing so, lighten the burden in daily life for us as parents as well.
And, as is always the case with Vera, between all the bad moments, we keep being amazed at her infectious smile and endless enthusiasm to make the best of things and to do what she can do.
