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Update October 2017

Hello everyone!

It has been quiet on the blog for about 6 months, but we certainly haven’t been sitting still. On the contrary, a lot has happened and luckily, mostly good things. This blog post will mainly be informative to update everyone. In the end, it turned out to be 5 pieces of information, I could (or should) have written 5 different blog posts. At the same time, this is very indicative of life with a child that needs special care; it’s not that sometimes something is going on, something is ALWAYS going on – and often many things at the same time. So, once again, welcome to our world!

House

Vera ready to move

We moved! And even though we haven’t unpacked all of the boxes yet, we are very happy with the move. Our new house is exactly what we were hoping it would be: it’s more spacious, and Vera can get around easily with her walker and wheelchair, there is a changing station downstairs and she can use the front door she can use with her wheelchair without us having to lift her. There is a spacious bathroom and luckily, the house is also just a pleasant place to live. Lots of people showed up to help us with the move and we can’t thank everyone enough for lifting boxes, cooking, working on home improvement projects and just thinking of us in general. Both girls are getting settled nicely and so are we.

Heart

Vera with halter monitor

Prior to the move, at the beginning of summer, there was some concern regarding Vera’s heart. She was born with severe heart issues; a heart that beats very infrequently and at the same time at too high a frequency and can start racing. This was controlled fairly well with medication, although her heart was still beating too fast for her age. In the spring we found out that Vera acquired a new heart issue, not only does she have arrhythmia in the atrium, but now also in the ventricles. Which is even more dangerous, if the ventricles start racing, this could be life-threatening. This came as a shock. We practiced our resuscitation techniques again, just to be prepared. And we had a meeting with the cardiologist. The medication that will help with this is Flecainide. However, when Vera was only a few months old, her levels of this medication were too high and caused cardiac arrest. We were there when this happened at the intensive care in Amsterdam and we will never forget that moment. Luckily, she was in a place where immediate medical attention could be given and with resuscitation and medication, she narrowly made it. “Never again this medication” was always on her medication list in big, bold letters. But now, with the added issue of arrhythmia in her ventricles, we couldn’t just do nothing. And there was no alternative medicine. The cardiologist still felt it was the right course of action and the situation was different also now, 5 years later.

in hospital for ECG and blood tests – always with a cookie afterwards

And so, in a very controlled way, we did end up starting with the Flecainide.
We started off with a very low dosage and made a weekly trip to the hospital for an EKG and blood draw to identify medication levels.
At home, we had a heart monitor to monitor her heart at night. And even though it was quite intrusive to have a heart monitor at home with all the beeps going on at night, it also gave us some reassurance. We dared to go to sleep because if something was really wrong, the alarm would sound and we could take immediate action. Each week we had one night where Vera was being cared for by a nurse (as always) so we could sleep for 8 uninterrupted hours knowing Vera was in good hands.
Over the course of the next couple of weeks, we gradually upped the medication levels. And, as is often the case with children who have Costello Syndrome, Vera needed quite a high dose to help alleviate the problem. But once this happened, it was good. Really good even. Her latest heart test showed no arrhythmia in the ventricles and her overall heart rate went down by 30 beats per minute.

heart monitor at home

This news almost sounded too good to be true. With the fear of the heart issues she had at birth and the cardiac arrest episode engrained in our memories, we could breathe a sigh of relief. Thank God! Her values have never been this good in her life.

This saves her body a lot of energy, beating 30 beats less in an hour means the heart isn’t working so hard and is beating 43,200 beats less in a day… We felt comfortable enough to get rid of the heart monitor and we will continue her semi-annual check-ups with the cardiologist. Because, even though her heart is functioning a lot better, it still isn’t functioning normally.
People often ask us if Vera can have heart surgery. The initial answer is that for now she is still too young and she doesn’t weigh enough yet, but hopefully: yes, maybe one day.
Vera’s heart nodes give off false impulses to the heart. When adults have this condition, a procedure can be done where the abnormal tissue that is causing the false pulses can be ablated (destroyed). Except Vera has so many false pulses that they can’t ablate all of it. But, who knows? Maybe one day this could be an option to get her heart to quiet down. But for now, this is not expected for the near future.

Eating

Before the summer, we also started eating therapy at school. Of course, essentially Vera has received eating therapy her whole life. From birth on (with the guidance of speech and language therapists who also specialize in swallowing difficulties) we have been practicing with bottles, spoons, licking and sipping.

tasting everything

Vera has always joined us at the table during meal times and we have always given her food to participate. And since birth, things have improved. Initially, she couldn’t bear any sensations around her mouth (except her pacifier), gradually she started touching food, holding food, licking food and putting food in her mouth. And eating a little bit. But definitely not enough yet and not the right kind of food to give her sustenance. And so, she has received her nutrition through a feeding tube for all of her life. First through her nose, later and to this day, through a mickey button in her stomach. 7 times a day we administer food or fluids or medicine through her mickey with a syringe.
At Vera’s school, there is the so-called EAT team, they support her language and speech therapist and us to help her learn to eat. What this means is that we essentially go back to baby food, porridge, and yogurt. Vera used to always spit this out. With eating therapy, she has started taking a spoonful of food in this little room at school and really eating it. Success! Fast forward to 6 months later and we’ve gone from the one spoonful to 2 fluid ounces. She now eats this every day. And we keep practicing with different foods, we give Vera anything she wants to try and will really eat. Even if that means it’s a cookie with whip cream. So that eating becomes a normal part of life and so Vera learns to get used to different tastes and textures. But it’s also about the technicalities: learning how to move the food from the front of the mouth to the back and actually going through the motions of swallowing it.
On the one hand, 2 fluid ounces seems a lot for her to eat by herself. On the other hand, this is still a far cry from being able to eat enough to really feed herself adequately.
We will still have to give it more time and patience, but she does seem to make progress.
Additionally, Vera also receives occupational therapy at school. Her eating issues are in large due to sensory sensitivities and occupational therapy helps with this. Vera’s body reacts to different stimuli in an overly sensitive way. Sound, touch and visual stimuli can be overwhelming for her. And that ties into how she deals with food. So, in therapy, she practices to get to know different sensations and not feel overwhelmed by them. In this way, playing with shaving cream with your hands contributes to learning to eat.

Sleeping

…or lack thereof. Another issue that Vera has had since birth. Vera is a restless sleeper and often wakes up crying at night and is done with sleeping at an early hour. We have already tried many things: Making her room darker, lighter, no noise or white noise in her bedroom, not too much food before bedtime or more food before bedtime, a nice bath and massage before bedtime, a weighted blanket, letting her cry longer or letting her cry shorter, making the room temperature warmer, colder, etc. She now takes sleep medication, which gives her two stretches of sleep a night, but still restless and interrupted. She never sleeps through the night. Needless to say, we are very tired often and Vera was getting headaches from lack of sleep. The neurologist referred us to the sleep clinic in Ede. They are specialized in sleep issues in patients with mental disabilities. It took some effort to get in (because who was going to pay for this?). And once we were in, they gave us quite a bit of homework. We filled out extensive questionnaires, kept a sleeping diary for 4 weeks, Vera slept with a machine that measures her movements at night for a week, and we took saliva samples that went to the lab to measure melatonin levels.

melatonin research

Sleep issues are difficult, not only because they make you very tired, but as parents, you feel so powerless that you can’t help your child fulfil this basic need. You start wondering what you are doing wrong and why it’s not going away. What’s going on? Is she in pain/is she hungry/is she scared? Or are we exaggerating and it’s not that bad?
The outcome of all the testing was quite illuminating. No sleep apnoea, no epileptic seizures. But we did find out that Vera’s body does not make any melatonin in the evening. She falls asleep because she is tired from the day, but not because her body gets sleepy. And that’s why she can’t stay asleep. The results from the movement monitor showed that she only really sleeps 54% of the time that she is in bed. When I heard that I felt so sorry for her. we go to her often at night, calm her down, tuck her in. And now it turns out that she is awake even more than we thought. And she must be so tired during the day.
So now we give Vera melatonin before bedtime, to replicate the natural process. We later found out that she doesn’t break down the melatonin during the day, which can also create issues with sleeping through the night. So, we switched her stomach medication to one that breaks down melatonin which she receives in the morning. For a while, it seemed we had found the solution. But, unfortunately, Vera’s sleeping pattern still varies and she continues to need sleep medication to even have a couple of stretches of sleep. The melatonin does give us hope, it feels like a step in the right direction. We are hoping it will lead to a more well-rested lifestyle for all of us.

Feet

casting in hospital

Right around her 5th birthday, Vera was able to walk unassisted for a bit. She needed her custom shoes and a hula hoop for balance but was able to take small steps through the living room. Unfortunately, the positioning of her feet got worse after that, which made her less stable and walking became harder again. Thankfully, she did continue to walk well with her walker. It’s a common problem in children with Costello Syndrome; Vera has shortened calf muscles and her Achilles heel is too tight, which makes her walk on her toes, her heels were not touching the floor anymore. She also has splayed flat feet (sounds charming, doesn’t it?). The physiotherapy and orthopedic doctors referred us for casting. This means that every week, Vera’s feet are positioned as best as possible and then put in leg casts.

series of her casting; right was the first one

By the next week, her muscles and tendons are stretched a little bit and the process is repeated. We were not looking forward to this and were concerned it would impede her mobility or that it would be painful for her. But again, our little veteran is a trooper; she creates cheer for everyone in the casting room and she enjoys picking out a new color and glitter for her next casts. And at home and at school she is fully using her feet, she walks on the casts, does her physical exercises with her casts and accepts it fully. She only misses her nightly bath ritual and she is now heavier and clumsier for us to lift. She is currently in her 5th set of casts and we can see enormous improvement. Yay! We will continue this for a couple more weeks and after that Vera will get splints in custom shoes. This should help keep her feet in the correct position, so it doesn’t get worse again. And hopefully, she will walk better and better.

So in short

We are living in a great new house, with heart medication that is working well, we are busy eating baby food and are not quite sleeping at optimal levels and Vera keeps taking steps. Onwards we go!
Lots of love from all of us!

 

Some pics with her sister:

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

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Vera 5 years old

In all of 2017, my parents have not written anything about me here, so I guess I will have to do it myself.

Helloooo, everyone! You guys are probably wondering how I am doing. I am five years old now and things are going very well. For those I haven’t seen or talked to in a while, I’ve really said goodbye to my baby and toddler years. I am a Kindergartener now. I’ve really grown! In many ways. I am taller now. Every evening I get a shot in my bum, luckily I’m quite used to it now. The shot helps me grow, not quite as much as we’d hoped, but it’s something.

I can communicate much better now. I’m using more words and I am stringing them together as well. Here and there I supplement with sign language. Or a joke or a sound. More and more people notice that I certainly understand what they are saying and that I can say something back (when I feel like it).

I’m playing. I still really enjoy watching my iPad (especially when I am tired). But I feel like playing more and more. My parents are surprised sometimes when I’m having a conversation with Monkey or Purk in the hallway, when I open and close doors, wave goodbye and pretend I’m leaving while wearing a hat. Maybe they expected it sooner or maybe later, but I just grab my moments here and there. I am not quite walking by myself yet, but I move in a way and at a pace that works for me. I crawl on my knees, walk with my walker, hold on to furniture or walk behind a chair. Sometimes when I’m wearing my shoes and hold a hula-hoop around me for balance, I can walk a few steps by myself.

Now that the weather is getting nicer, I also like to play outside. I like to go up and down small inclines with my scoot bike or walker, draw with chalk on the sidewalk or swing on the swing set.

And then sometimes I am just done and I get tired or sad. And then I want mom and dad to hold me on their shoulder or dance with me. And (as some of my Facebook followers already know ;-)), when I feel better I like to “hettebennen” (head banging to some rock music).

I think I like to play more because I am slightly less tired. My heart still takes a lot of energy out of me, but I am sleeping slightly better lately. Mom says I shouldn’t write this because I am still taking sleep medication and I still wake up a couple of times a night, but I think it’s going better. They’re saying I still need to go have a talk with people at a special sleeping hospital, but they have to think about who is going to pay for that for a while, or something about a waiting list… Which is too bad, because on nights when I do not sleep well, I really do not have a lot of energy and I get upset more easily and I have headaches more often. Mom and dad drink some extra coffee on those occasions, but I can’t have coffee yet. So after I’m done with school (I stay until 1:30 PM) I feel like my day is done already. It still varies a bit. Just like eating.

I still get all of my food through my mic-key button, the tube that goes into my stomach. I happily join in during meal times, if I might say so myself. I look at what everyone is eating and I make sure they put their food in their mouths. Or help them a little. I’m also fairly interested in what’s on my plate. I play around with it and sometimes I take a few bites. At school, there is a group called the EAT-team and they have started to think about how I could start eating for real. I understand there may still be a long road ahead, but I’m open to it. And my parents too, luckily. This way we can keep meal times pleasant at home and at school I get an extra elective called “Learning how to eat”. Who knows what will happen.

I still visit the hospital often. Luckily not for emergencies anymore, it’s always with a letter from a doctor who wants to see me, check up on me, take images, give me medicine or take some blood. In all of 2016, I have been to the hospital 51 times, so I know lots of doctors and nurses well and they always wave at me. When the doctor’s appointment is done, I always get a cookie and then I know we can go home again. Because I like being home the most.

But enough about me. Something big and exciting is coming: we will be moving to a different house this summer! And everything has been taken care of. From this new house, we can still walk to the library, the ice cream store, our bakery and the coffee shop. Because I have to think about my social life, you know. I will get a new bedroom where my bed will be. And there no longer will be a big step up to the front door, so I can go in and out easily with my walker or wheelchair. And inside, there is a lot more room! The wheelchair can be parked in the entrance instead of in the living room and I can use my walker around the house without bumping into everything. The bathroom is more spacious also, which makes it easier for mom and dad to help me. They are going to make a changing station downstairs, so I don’t have to go upstairs for every diaper change and we can store my diaper supply, boxes with syringes and bottles of medication there as well, so it no longer has to be in my bedroom, which gives me more room for my stuffed animals, nail polish, and books. I’m excited!

Time to go, until next time!

Greetings from Vera.

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Growth hormones

It’s bedtime, but first… the shot! Vera is prepared. Every evening before bedtime she gets a shot. In her buttock. Small buttock, because that’s why she gets these shots: she is small. Even small for her syndrome. But there are additional reasons for the shot.

groeicurveOne of the characteristics of Costello syndrome is slow growth or lack of growth. Adult women who are affected by Costello have an average height of 1.35 m. (4 ft. 4) Vera’s sister Mieke is already taller than that at age 9, so we can get a good picture of how little grown-up Vera will be. And currently, with a height of 85 cm (2 ft. 7), she is very small for a 4.5-year-old. We knew Vera would be small, it is part of her genetic condition after all. But Vera is even below the adjusted growth curve for Costello syndrome. Because many children with Costello syndrome have reduced levels of growth hormones it seemed only logical to have her levels tested at WKZ (Wilhelmina Children’s Hospital). We knew from many parents of children with Costello syndrome that many of them were receiving growth hormone treatment to supplement the shortage to normal levels. And so, we added a new specialist to our list: the endocrinologist.

humatroop-startpakket

starter

prikken-banaan

practice to give a shot on a banana

The trajectory started with a testing day (administering arginine), which showed that Vera does have adequate growth hormone levels (her pituitary gland does make growth hormones), but her body is not processing it. The cells in your body are supposed to make IGF-1 (insulin-like growth factor 1) in reaction to growth hormones, but this isn’t happening in Vera’s body. This not only affects her growth, but also her bone growth, muscle development, blood sugar levels and supports heart functioning. Many parents we talked to reported that their children slept better and had more energy after receiving growth hormone treatment.
After the testing day we started a trial period: administering growth factor IGF-1, that’s what’s in her shot. Luckily, Vera’s body responded well to this, her levels went up noticeably. But in order to start ongoing daily treatment, a lot of consulting had to be done by many doctors to make sure it was safe to give this to Vera. Because, due to the complexity of her condition there is always a bit more uncertainty and less experience with the long-term effects of the new treatment. The most important question was: could the reduced levels of growth hormones in Vera’s body be protecting her against something that would be undone if we started treatment? At the conference in Manchester we had already learned that there is no direct correlation between administering growth hormones and incorrect cell division. If this were the case, we wouldn’t want to do the treatment, because with Costello there is already a greater chance of developing tumors, we wouldn’t want to make this chance even greater. After reading many articles, talking to other parents and of course consulting the doctors, we came to the conclusion that administering growth hormones does not have any proven risks but that it does have proven benefits. With that, we could start her daily treatment – indefinitely, with check-ups at set points. Luckily, our insurer agreed, because it is a rather pricey medicine and we can’t just pick it up at our local regular pharmacy, we have to go to the hospital pharmacy in Utrecht.

humatrope-naaldAnd so, the shot in our refrigerator was born. It took some getting used to. We ourselves already had to learn so many medical procedures to care for Vera, and not all of them are pleasant, with this one in particular, giving a shot, it was the first one in which we have to cause our child a little pain for her own good. Of course, she has had dozens of shots and we always held her and comforted her, but now we are the ones administering the shot. It took some getting used to, but after two weeks, we all adjusted, including Vera. The shot is part of it, it only takes a second and Vera is enormously brave; usually she allows it to happen willingly and she doesn’t make a sound. She does like to have control over who can give her the shot (mom or dad?) and where she wants to lie down for the shot. Because she may be small, but she has a big personality.uitspraak-short

vera-ballonAnd, does it help? Vera has been receiving the treatment for 5 months now. The dosage has been increased once because she is still not  at normal levels of IGF-1. But Vera is growing and it does seem to go faster than before. She does seem to sleep a teensy bit better on average. We do not see an increase in energy levels yet, but that has a lot to do with her heart condition (more about this later). As with all things, we are patient with this and will see what will happen in the long term. So for now, we will continue with our small shot for our big little Vera.