Broken Bones

At the end of the January school holidays Evelyne broke her arm. Not just any break of course! A complete displaced fracture of the upper humerus, almost compact, but thankfully didn’t quite make it through the skin! 

It was an ordinary day at the park with Evelyne doing an ordinary activity for a 9 year old – climbing on monkey bars. 
It ended with her on the ground, an obvious serious injury and a Triple Zero phone call for an ambulance. Leading to transport to another hospital, a 'closed reduction' in theatre under general anaesthetic, 3 days in hospital getting pain under control, 2 weeks in a traction cast and a further 4 weeks in a shoulder immobiliser sling. The positive news was that her spinal rods were not impacted!

It’s one of those difficult questions parents with Beals kids (and others) will face. How much do we protect and wrap in cotton wool, and how much do we let them go and be normal kids? It is a balance I’ve struggled with over the years. Sometimes I think I’ve restricted her too much due to worrying about injury. But the fact is, she is going to be at a higher risk of all sorts of injuries. Joint injury and dislocation, risk to damaging spinal rods, and it appears broken bones as well. At school she is not allowed on the play equipment, is restricted from many sports activities and has an aide to watch her in the playground. This has made it hard for her over the years, as she at times comes home from school upset that she was left out of the action. At home, we are slightly more relaxed, and really just ban trampolines, bouncing castles, and I may add monkey bars to the list.

Whilst I’ve never had definite confirmation, it does appear that Beals Syndrome is associated with lowered bone density. One study I read said 'generalised osteoporosis is well documented'. Many years ago, another Beals mum spoke of bone density testing, so I had Evelyne’s checked. At the time her results came back as normal. Apart from some minor reduction in the spinal column, but that was explained by lack of use as it was in the days of her being in casts and braces. From my reading, bone density can often be lower in individuals with reduced physical activity, reduced strength activity, low body weight and small frames and that physical activity is widely acknowledged as a factor in increasing bone density. So perhaps the lowered bone density in Beals Syndrome is by association with lowered activity and low body weight. Either way, it still brings me back to the same conundrum. 

Evelyne is now 12 weeks post break and her arm has healed beautifully. She is about to start physio to get full range of motion back in the shoulder and is looking forward to starting back at Jazz dancing. In regards to my thoughts on physical activity, I'm happy with most of our decisions with restriction vs allowance. In reality, she is often much happier doing drawing and craft than sports and she enjoys her dancing which she will continue. I do think there is more we could do for joint protection rather than just avoiding certain activities, as her knee has partially dislocated twice. Evelyne is fortunate to have been granted an NDIS package (National Disability Insurance Scheme in Australia). With some of her funds she will start seeing an Exercise Physiologist to help strengthen her joints, increase endurance, as well as some hydrotherapy and swimming. We are both looking forward to seeing the benefits. 

New Wheels Arrive!

Thanks to the amazing generosity of so many people, the 'Wheels for Evie' wheelchair arrived last week. There was a lot of excitement (from all the family).
We are so excited about this chair in so many ways. It is a manual (Zippy) chair base, but has a power attachment (ZX1). As a result we have two chairs in one. This means we can still use the lightweight manual chair and fold it up in the car, but that she can also independently attach it to a power base. 

This amazing chair gives her independence and control over her own mobility. Yet we don't have to have a modified car like with most power wheelchairs. The school has paths and ramps so she can access all areas. The main issue we have to deal with is stopping her from increasing the speed and basic driver training! She wouldn't let me put 'L' plates on, but there have been a few moments I felt they were needed. She's perfecting wheelies and donuts.

We are still astounded of the generosity from friends, family, church, school, community, anonymous donations, Lions, as well as complete strangers. We are very thankful to God for the amazing supports he has given us.

First trial                         -                         Off- road                         -                       Watch out Sam!

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.

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.

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

Busyness and daily struggles

I'm sure most parents will agree that life with kids is busy. But those of us with kids with special needs will know that the busyness triples at times. I've realised it has been over 2 months since I last posted and I was trying to think about what had happened in the past 2 months. I feel like its been a whirlwind of work, housework, church, meetings, kids sport, ballet. But then added on top is OT appointments (for Sam as well as Evelyne), physio (for me as we'll as Evelyne), GP (for all 3 of us), paediatrician, rehab specialist, orthopaedic specialist, spinal surgeon, dietitian, orthotist, yearly visits to the cardiologist, ophthalmologist, and I may have missed one or two.

I'm not sure how to avoid this busyness.  Sometimes I don't know how long I can continue the relentless appointments and treatment. I have wondered at times if Evelyne really 'needs' to see all those people. Or if I should work on one thing at a time. But unfortunately the nature of Beals is it affects so many different parts of the body. Connective tissue is everywhere! And appointments with spinal specialists and orthotists are very important to keep on top of when dealing with a worsening scoliosis. 

As well as busyness in our daily scedule, there is also the tendency to feel overloaded emotionally. I tend to go through stages where i feel very overwhelmed and out of control. I hate watching the daily struggles that Evelyne goes through. When she is in pain while her body adjusts to a new brace or cast,  when she struggles with sickness and chest infections and we have to force her to use the nebuliser, or simple things like her struggle to run or do ballet steps like her friends.

I have come to realise the importance of friends and family who understand. The times I can cry on a friends shoulder, have a cuppa and some chocolate and a debrief. It is so important to have these people in my life for support when I do feel down and out. To have their emotional support as well as practical support when I need it. I am very thankful to God for the family and friends he has given me who are such an encouragement in the tougher times. 

She can do anything!

I have previously been told that Evelyne may not be able to ride a 'normal' bike. This was thought due to her low muscle tone in her legs as well as her lack of core strength due to the scoliosis and brace. So when we went for walks we pushed Evelyne in a younger child's trike which had a parent controlled handle to push it. I wasn't too concerned as I knew of a company TAD, that helps modify bikes for older kids. I just assumed we would draw on their services one day.

Recently, a friend offered a bike for sale with training wheels and a parent handle. I thought, that's perfect! It's a standard sized bike, but we could still push her along.

We took her for her first ride, expecting to be pushing her along, and you can see the results from the video clip below. I'm not sure who was more excited, Evelyne or me.

Another lesson to never underestimate my girl!

Song : Jay Laga'aia - Bikeling - (used with permission)

An interview ...

My sister recently interviewed me for her blog on my experience living with a child with a disability.

A child with a disability - My sisters story

Siblings

Over the last couple of years I have been thinking about siblings of kids with disabilities. I have met many people over the years, through work as an OT and personally, who have talked of the effects of growing up with a sibling with a disability. I have also recently read the book 'Siblings' by Kate Strohm. 

The impact appears vary case to case. Many people report to have issues with feeling left out, forgotten, not as important. Some report that it strengthened their character, and they feel they are more tolerant, understanding people as a result. In Kate Strohm's book she says siblings are 'often overlooked in families struggling to cope'. She gives some practical strategies to help give siblings the attention, care and time they need.

A friend of mine once told me that as a child, her main memory of her sister's disability was that her mum would leave her so often. When she would travel away for medical appointments she felt she was always the one left behind. This is something I am very conscious of with Samuel. I am often away with Evelyne in Sydney, and now Samuel is at school, he stays at home with Jon. Jon's parents often come to stay to help with school drop off and pick up which has been wonderful! However I feel it's important to make sure Sam and I get one on one time also. 

As a result last school holidays Sam and I had a special trip together. We caught a train to the Blue Mountains, bush-walked down the giant staircase and around to Echo Point, stayed in a motel, went up and down the scenic railway and cable car, and bush-walked some more before catching a train back home. Samuel took my old camera and took pictures along the way, and made a scrapbook afterwards with photos and brochures and maps. We had a great time together and he was so excited that he got to come on a special trip with me. It was a wonderful 'adventure' together.

I'm a big girl now!

Evelyne recently celebrated her 4th birthday. She is very excited to be 'big now'. We had a lovely 'rainbow party' for her in a Sydney park with both sides of the family. She ran around, played in the sandpit, and enjoyed the fact she is cast and brace free at the moment.

Friends in far places

Since starting this blog I have had the opportunity to make contact with people all over the world. Beals Syndrome is so rare, that many people turn to google for information, as I did. In fact, the main reasons I started the blog, were to document information about Beals and  make contact with others. It has proved to be effective! I regularly get emails from people around the world who have or have children with Beals and have been searching for information.

It is a strange connection that you have with someone, to have a child with the same condition. I have emailed and also talked to some on the phone to share our experiences. It is a peculiar, emotional, yet wonderful experience to feel like you can know and understand someone that you have never met, and probably never will meet. There are people who know and understand me and my story, my frustrations, fears and sadness more than some of my close friends and family. I recently spoke to another mum across the other side of the world. We shared stories and tears as we talked about our little ones.  I hope one day to meet some of them, as yet I have never physically met another person with Beals Syndrome. Yet thanks to technology, I feel less isolated  dealing with the ups and downs of life with Beals.

Tap dancing

Evelyne loves music and dancing. She sings all the time, making up her own songs, and loves to put music on and dance around the living room. At the beginning of the year I started looking into dancing classes. I knew she would never be a prima ballerina (nor would I necessarily want her to be), but I wanted her to be able to go to dance classes and have fun and enjoy music like a 'normal' kid. It had upset me thinking that she wouldn't necessarily be able to participate in classes like this.

I started researching options. After ringing around multiple dance groups in our town, one of the teachers said... "what about tap dancing?". She wouldn't have to do the same floor work, flexibility training, or exact body positioning, but she could stand and tap. We take her brace off for the weekly classes and although she has poor core stability, she copes well. It was exciting to find an option that might work for her for a few years at least, where she can have fun, gain skills and interact with other kids.  

Tarron's story : Knees

As I have had little experience so far with issues of knees, I asked another mum to write of her son's experience. 

Tarron is 14 and was diagnosed at birth with Beals, he has been very fortunate and has not developed scoliosis thus far. He has all other characteristics of beals, but the issue we are dealing with now are his loose patella (knee caps).

Tarron has always had knee contractures but they really started to give him problems when he was about 10/11 years old. His knees started to dislocate very easily, some times more severe than others. This is very painful for him and sometimes would take him out for almost a month. When his knee dislocates, fluid builds up, so his knee become very painful and hard to move, the first week or so he cannot bend his knee. We have to use a splint and crutches until he becomes mobile again and can bear some weight.

We now use bilateral knee braces, and thankfully, we have not had any major issues in the past two years. This is just a temporary fix until he has surgery. He has dislocated his knees with the braces, but to a milder degree. Tarron is a very active 14 year old, and with the help of the braces, he can ride his bmx, run, or play any type of physical sports. They are the security blanket he needs, in order be a typical 14 year old.

Tarron's patella's are almost two inches above where they should be, they are also very loose and he can move them at will. A boy knees will fuse properly together around the age of 17 years old. Tarron has always been taller and his body seems to mature faster than other boys his age, which is probably why his knees are ready for surgery now. He is set to have surgery within the next two years as we have to wait for our doctor to fit him in. The surgeries will take place approximately 6 months apart. We have a surgeon who is one of the best in the area, and one of the only doctors in our area who will deal with this particular knee issue.

Flower girl

Evelyne was a flower girl at a close friend's wedding a couple of weeks ago.


We took her brace off for the afternoon so she could wear the pretty dress and move more freely. She did a great job, especially at staying still for photos (I think it's the practice from x-rays). By the end of the afternoon, after a few hours out of her brace, she was visibly struggling with tiredness. She could barely hold herself up and collapsed into bed once home (thanks Nanna and Grandad!)


It was a special day and I think you'll agree she looked gorgeous! 

Preschool

This year Evelyne has started preschool! She is attending our local preschool one day a week. It is a wonderful parent run preschool with great staff and facilities. Samuel has attended there for the last 2 years, so Evelyne is very familiar with the environment and the teachers. 


We managed to get funding for a full-time teachers aide which has taken some of the worry out about how she will cope. And I think it will give us a good idea about how she will go in a couple of years at school and how much assistance she will need.


At the moment she needs some assistance with safety on the outdoor equipment (due to risk to her spine), help with her clothing for toileting (due to the brace).  The preschool has a special cut out table and slope board which makes it easier and less strain to do work at the tables. We also need to start working on her hand position for pencil grip.


She loves painting, glueing, reading and singing and proudly displays her craft and sings us the songs once she gets home. The only problem is she finds it hard to wait until the next Friday comes around!


The photos are of Evelyne's first day. She is grumpy because she just wanted to get out the door!

Magnetic growing rods

There is a new technique being trialled in Melbourne which uses magnetic growing rods. My specialists here in Sydney are also trialling a similar type of system. They have done one surgery at present, with another to be completed soon. This technique may be an option for Evelyne. The benefit is the rods can be extended without 6 monthly surgeries. There is a recent article below on a 7 year old boy who recently had the surgery.

http://www.theage.com.au/victoria/magnetic-attraction-gives-matthew-chance-to-stand-tall-20111023-1memn.html

Perspective from a 20 year old

A young woman with Beals Syndrome recently posted the below on an online Beals Support Network.  I asked her if I could re-post it here for those interested in what it has been like for her living with Beals Syndrome.


I'm 20 years old and have a mild form of Beals. Although it is mild, it still hurts (I'm a visual artist and I'm always using my hands) and I have to deal with people commenting on my appearance, usually describing my features as "weird" or just "ew." 


I wanted to say something to all the parents of kids with Beals. Kids with Beals need to build a tough shell, because other kids can be cruel as hell, and if they let it get to them, it'll ruin their life. I had to realize on my own that my "weird" appearance was the one I was always going to have- and I would have to come to love it. 


Please tell your kids to stay strong, and pity the people who are rude to them. Instead of feeling hurt by others comments, tell them to look at how sad it is that they would want to hurt someone's feelings in the first place. I grew up fast (most of us with Beals do, at least physically) and am thankful for all the struggles I had to deal with early on, because I would not be able to move forward and achieve the things I have accomplished today without going through it all. 


If you have a teenager, or even a younger kid, and they need someone to talk to, please feel free to message me. Actually, I encourage you to. It's a very lonely feeling knowing you suffer from something that most people don't even know exists- let alone other kids. 


Today I am a happy and successful young woman (so far...) and the fact I have Beals has not slowed me down. It has done the very opposite... it has motivated me to do everything I want to do in life, and all those stupid comments from other kids officially have no validity whatsoever.


Keep strong, and carry on.  Lily