Welcome to Holland

c1987 by Emily Perl Kingsley. All rights reserved.

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this…

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.
After months of eager anticipation, the day finally arrives. You pack your bags and off you go.
Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland." "Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must
stay. The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.
So you must go out and buy new guide books. And you must learn a whole new language.
And you will meet a whole new group of people you would never have met.
It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.
But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."
And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.
But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.

The time is drawing near

Evelyne had a spinal appointment this week. We have been plodding along since last winter with the current brace, but can tell she is growing more uncomfortable. Evie has had a few issues with redness and pressure on the point of her kyphosis, and occasionally issues with pain, but it's been pretty non-eventful. Every time we see the specialist we get asked "...and how old is she now?"... with the underlying question being "is she old enough for growing rods yet?". This time was no different, however, I think I knew that now Evie is aged 6 we are getting closer. 

They first mentioned surgery when she was 3, and we have persisted in casts and braces for the past 3 years to try to hold off until she is bigger. Basically, the older/bigger they are, the less complications and the more successful the surgery.

The specialist is wanting to try another brace design first, to see if we can hold off slightly longer, however it looks like surgery will be in the near future rather than the distant future. In his words "I'd rather put growing rods in an 8 yr old than a 6 yr old, however we have done well to be putting them in a 6 yr old rather than a 4 yr old". We have a brace review at the end of January to discuss options for a new design which might help, however it is clear surgery is not too far away.

Evie, brace free, with her cousin Lydia

One positive is that it looks like she is eligible for Magec rods - magnetic growing rods. This means she will not have to have surgery every 6 months, but the rods can be lengthened via magnets. I wrote about it here over 3 years ago when I heard of it, hoping it may be an option for Evie. 

I am nervous for what the future holds, but I trust our specialist and his experience, and I am happy with how long we have managed to delay surgery so far.

Wheels for Evie

In past blog posts, I have mentioned that Evelyne uses a specialised pram for school and outings. She has joint pain issues, spinal pain, low muscle tone, fatigue and reduced lung capacity due to her scoliosis. In summer months, she becomes quite exhausted from the heat due to the brace. Her school use the pram towards the end of the day, or when they have to go further distances within the school, such as the oval or the library. We use it on holidays, for hospital visits and at the shops. It has been an great help to both reduce her pain and fatigue, and save our backs from carrying her as she gets older.

Recently at school she has been teased about being in a pram, "only babies go in a pram". This is understandable as a pram is inappropriate at her age. As a result we have come to the realisation she will need a wheelchair. This was particularly apparent at her recent sports carnival. Her teacher was kind enough to race with her around the oval, but it was very obvious she had difficulty participating in many of the activities, even though she tried so hard to be involved.

The first wheelchair trial was confronting. She at first refused to get in it, she said it was too 'scary'. Once she agreed to try it, I also got quite emotional seeing her in the chair. It felt like such a big transition. While she was young, we could hide her disability in the pram. Now  it is more obvious. After an hour of trialling the wheelchair, she realised using it gave her independence. This was by far the biggest impact. She loved that she could get around herself, without someone else having to push her.

The hospital lent us a chair to trial which gave us the opportunity to see if it would be appropriate for school and home. After a successful trial, we have now started fundraising to purchase her own chair. In Australia we can apply for funding through the government, however, as she can walk, she is seen as a low priority category. This means we could be waiting approximately 2 years for the chair. 

Some of my mum's gorgeous clothes

My mum made a huge amount of clothes to sell, and various people donated clothes for a facebook sale site. On top of this, we have been blown away with the generosity of people within our church, school, family and local community, as well as some people we have never met.



Wheels for Evie facebook site

Handmade girls clothes

Girls auction

Boys auction

Donation site

A catch up and a birthday

It has again been a long time since I've posted. Thank you to those who sent lovely messages asking asking how we were going. In my last post Evelyne was in a cast and we were praying she could last until the 6-week check without developing pressure sores. 
And she did! 
It was a hard 6 weeks, and we went through various times when we thought we might need to cut the cast off. I always find it difficult to know what to do. As you cannot see what's under the cast, it is up to us to decide if we think she has a pressure sore or not. Which is ultimately based on if we think her pain and discomfort is increasing. 
She got the cast cut off at the follow up appointment, revealing a few surface sores developing, but no need for dressing. It was wonderful news!

The next day she was cast for a new brace and then fit the day after that. The quick turn around this time was great, with her new brace x-ray measuring the same as her cast x-ray at 53 degrees for the lumbar curve in the brace.

Note that her new brace is plain purple this time, as she is apparently now too grown up for butterflies and bunny rabbits.









MY BIG 6 YEAR OLD

This week my 'grown up' girl celebrated her 6th birthday. I've included a couple of photos from her 'Frozen' themed party with school friends.

Another winter, another cast

Last Friday Evelyne had another spinal cast applied in Sydney.
It is always tough leading up to casting, emotionally preparing for pain, discomfort and sleepless nights. I am usually a mess the week before. And this time was no different. But as usual Evie was relatively calm and although she admitted she was not looking forward to the cast "because it hurts more, and you cant take it off!", she was her normal happy, positive self before (as you can see from the photo).

She recovered after the general anesthetic much better than her last cast, and was able to stand and walk quicker also. However she still needed pain killers and was in alot of pain if they wore off. She also slept very well the first few days and managed the 3 hr car trip home to Bathurst the next day with only one stop. 

We again decorated her cast in her choice of print, and her doll Milly (now renamed Annabelle) again shared the same design.

One week on she is still struggling to sit for periods of time and prefers to stand, kneel, use a bean bag or lie on her tummy. And at times she still needs pain medication. Evelyne attempted school for a few hours each day Tues-Fri, with the help of her aide, and although the first few days went well she only lasted half an hour Friday before her back was hurting too much and she needed to come home.

I'm not sure what the next few weeks will hold. It's hard not thinking that she may already have a pressure sore, but maybe she is still just adjusting to the change in her spine position. I recall it taking about a week to recover last year also. We are also awaiting the x-ray results to see what angle the cast has achieved. In the meantime we continue to pray for her to be more comfortable and that this cast will last longer than the others.

Starting school

Evelyne started school last month and she is loving it! She is attending our local public school (same school as Samuel) which is only a short walk from our house. Incidently it is also the same school I started Kindergarten in almost 20 yrs ago. She is in a standard Kindergarten class with a part-time aide and some extra equipment to help her.

This includes:
- Her pram/buggy, to get to school, and to leave at school for when the kids walk longer distances or she gets tired
- A cushion for her chair as she was experiencing pain on her kyphosis when sitting
- A peanut cushion for sitting on the floor, to avoid 
W-sitting
- A splint for her wrist and thumb and a pencil grip
- A beanbag for floor sitting when tired

We are also in the process of organising a step and rails for the toilet (she is in a classroom with it's own toilet). This will be mainly needed for when she is fitted with another cast in April.

Her main issue, as we expected has been fatigue. As expected she has friends, loves classwork, loves her teacher, and is very independent. However she is exhausted by the afternoons. Although all new school kids experience this, with the added difficulty of her lung restriction, she was struggling. The first few weeks were especially difficult with the heat. The teacher and aide have been using her pram for longer distances, but have found they were even needing it for the short distances also. As a result the school have applied for more funding so her aide will be available more hours. This again, will be especially helpful come April, when she will need more assistance in the cast.

I was a mix of emotions leading up to her beginning 

school. Some excitement, some nerves and worry. It was hard to hand her over to others for so many hours in the week. However I am very happy that the school have been so helpful and I am confident that they are looking after her.

Our local paper did an article in her first week of school. It was a great article you can read the online version here

The 'skinny' gene

All ready for a recent ballet concert

One of the known features of Beals Syndrome is long slender limbs and fingers. From what I've learnt from other Beals families, this is one of the most noticeable outward factors of Beals and many speak of comments made about long fingers, arms, toes etc. It appears to be linked to the genetic mutations in fibrillin-2 (Beals) and fibrillin-1 (Marfan) as both conditions display factors of increased height, armspan can be greater than their height, and slender fingers (arachnodactyly). Beals Syndrome was previously known as Congenital Contractural Arachnodactyly.

From birth we noticed Evelyne's long feet and long fingers. Even before we knew she had any sort of genetic condition we were aware of their unique shape. One nurse commented at birth "look out Thorpe" (the Aussie swimmer) while we had numerous comments that she "would be a piano player". As she grew we could see more and more, not just long slender fingers, but her overall long, slender shape.

Until recently it has not been a major concern to us as we knew it was a common aspect of Beals. However a trip to the nutritionist, made us realise we need to be striving to put more weight on her. Due to her scoliosis, and her future need for surgery, it is important to increase her body fat. At present she is so skinny, and due to her kyphoscoliosis, her spine is very prominent. This means she gets frequent pressure issues, but it may mean more complications in surgery. The surgery involves rods and bolts to attach, and basically, they just need more flesh to work with to cover over all the hardware.

She does not eat huge volumes of food, possibly due the restriction on her stomach from her brace and scoliosis. So our first attempt involves adding calories without adding much volume. Her new diet is everything I would normally associate with a poor diet. But I've had to change my mindset. As the nutritionist said, for the next few years, sugar and fat are our friends. For every meal I have to add a high fat or sugar content to Evelyne's serve. I either add oil, butter, margarine, cream, sour cream etc. I know of other kids with Beals Syndrome who have not put weight on by diet alone. They have ended up with PEG tube feeds in an attempt for weight gain. This is a good motivation to work hard on her new 'diet'.