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Vera is 10 years old!

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I cleaned out a large closet, which had everything to do with Vera.
Our girl is 10 years old now. And even though there are still concerns, there have also been some positive changes. And that’s why we’ve been able to get rid of some things.
Goodbye syringes, mickey buttons, extension hoses, metalline dressings, tubes of cream, freezer bins and liquid medications! For two years now, Vera has been eating everything independently. Every meal, snack and even her medication in pillform (which is about 10 pills a day). After 8 years of tubefeeding, I cannot tell you how special it is to watch her eat so well by herself these days. We take the fact that she develops some food related tics from time to time in stride. In particular when it comes to sandwich toppings, Vera will have a strong preference for one specific option for months. We’ve gone through phases of spreadable cheese, chocolate spread, cookiebutter and currently we’ve been in the hummus phase for months. All sandwiches have to have hummus, even in the morning at the breakfast table we’re surrounded by a strong garlic/chickpea aroma.

More things left the closet. Goodbye nebulizer, liquid medications for the nebulizer, plunger syringes! Eventhough Vera can still be plagued by common colds, in recent years she’s been able to get away with just regular nose sprays, perhaps one inhalerpuff and lots of rest. No more nebulizers or hospitalizations due to a cold. That used to be quite different in the past.
Goodbye diapers, wipes, endless diaper creams and goodbye changing station in the storage room. Another milestone we weren’t sure we were going to make (and neither did the urologist). Since 2021 Vera has been toilet trained during the day and since March of 2022 at night as well. What a difference this makes at home and out and about. And how nice for her skin that had been suffering from wearing diapers all these years.
What remains is a container of medication for her heart and sensory processing during the night, a bottle of eardrops because ear infections are still a common occurence for Vera. What also remains is the cooler for growth hormones. Vera gets a dose of these every night.


The closet has been cleaned out.

The wheelchair stays, soon we’ll size up to a larger one again. The splints in her shoes also remain. Walking is still something for short distances as her legs and feet continue to be something we need to keep an eye on. We hope better splints will help. Or customized shoes, perhaps one day surgery. All in all this is probably the limit of Vera’s mobility. Her tricycle and the tandembike we like to take out to go shopping remain. What also remains are the hospital visits to see the pediatrician, endicrinologist, cardiologist, ENT doctor, eye doctor, oncologist, rehabilitation doctor. And in the background: the neurologist, orthopedist, urologist and dermatologist.

But what remains the most is a 10 year old schoolgirl who likes to be both handyman and princess, wants to dance and hang on the couch, makes us laugh and tires us out endlessly with her early rising, cognitive disabilities and a hint of autism.

But that’s Vera: our sister and daughter.

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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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Experiences in Manchester

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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.