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.




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.



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. mri-kamerBut 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.

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.

happy sisters