June - Scoliosis Awareness Month

Yet again I've left it over a year between posts! There are probably many reasons. Busyness, less changes in Evelyne, more stability as she ages, or maybe I don't 'need' to put my feelings and thoughts down like I used to. Not sure. But I have been again reminded recently how helpful my blog has been to others over the years. I started this blog as there was little to no info out there about Beals Syndrome. Now 8 years later not much has changed. There is still barely anywhere to find out about Beals Syndrome, and even less helpful information for a new parent faced with an unknown diagnosis.

I am frequently contacted my young mums and dads faced with a baby who doctors 'suspect' has Beals Syndrome. They turn to google to look for answers to no avail, just as I did. It brings me straight back to the uncertainty I felt. Holding my little baby and unsure of the future. I have been encouraged by them to continue writing our story down, so here I am!

Evelyne - enjoying mushroom picking in the forest this Autumn

I have spent the last month looking back through photos as I was thinking of writing a post about how far Evie has come. But where do I start! The early years of casting and bracing, the photos of her in appointments and procedures, or the photos of her showing her determination to be a kid despite her physical struggles. She has been through so much and continues to amaze me.

With June being scoliosis awareness month I am again motivated! Whilst there is so much more to Beals Syndrome, for Evie, her scoliosis has been by far the biggest impact to her life.
When she was just a tiny baby, 10 weeks old, I noticed a bump on her back and realised something was not right. It did not take long before we realised she had a rapidly progressing kyphoscoliosis, which meant her spine was curving outwards as well as sideways. 

Over the past 10 years Evie has gone through 4 casts, 9 braces, 2 major surgeries and 12 lengthenings. The years of casting and bracing were not easy with the effect to her lungs, mobility and energy levels. Whilst surgeries and lengthenings are also hard and risky, Evie is now growing taller, stronger, has more lung capacity and thrives in so many ways. You would not know what she has been through to see her now, and many new friends are astounded when I share her story. She loves singing, debating, public speaking, musical theatre, art and craft, and brings joy to so many people. We are so grateful for the amazing medical assistance we get here in Australia, our wonderful Orthopaedic Surgeon and the new technology that is available.

Last brace!

Sometimes it can hard to put a positive spin on things. But often that's the best option.
Evelyne will have her first spinal surgery on the 7th January. It is a major surgery in which they will implant growing rods, attaching them to her spine. I'll write a longer post on this process soon.  
Although we are a bit apprehensive, we know that the time is right. Evie's last x-ray showed that her curves have reached 68 degrees and 49 degrees IN the brace. As a result of this progression she has been experiencing more discomfort and pain, and is finding more tasks and positions difficult. 
It is time.

We have so much to thank God for.
- It's been 4 years since I first thought surgery was imminent as I wrote about in this post
- She is now eligible for Magec rods which I first wrote about here in 2011 and hoped would be an option 
- This is the last brace! And what 7 year old Taylor Swift fan can resist heart and rose tattoo print

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.

Deformity Downunder

Evelyne was presented at another international conference earlier in the month. The conference had the unconventional title "deformity downunder". There were specialists from a few other countries including the US and New Zealand. Evelyne's 2 x spinal surgeons were present and outlined her case for the participants. Like the last conference, they presented her case on powerpoint, then gave specialists the opportunity to come forward and examine her.


Yet again Evelyne was amazing, and dealt with the experience very well. She did everything they asked and charmed them all with comments like "there's a lot of doctors here" as she looked around the room of about 30.  About 10 doctors examined her this time, crowding round. It is a strange experience, to see her on display as they crowd to check her out, yet valuing their expert advice on her case. There was a discussion on her current brace and its effectiveness and a discussion from the US specialists of the style in comparison to some braces used in the US. We then left the room and left them to discuss further.


This week we received the followup phone call from her specialist informing us of their conclusions. Overall they are very happy with her current brace. The plan is to make some slight adjustments at our next clinic in June. Thankfully there was no talk of surgery for the immediate future.

New specialist, new brace

A few months ago we had an assessment with a new specialist. We discovered a spinal surgeon in Sydney that has hands on training in Mehta casting and wanted his option on Evelyne's spine and the possibility of casting in order to postpone surgery.

He informed us that bracing is not very effective in controlling the curve once it's over 40 degrees (as we knew). When he examined her the curve was over 50 degrees in the brace, and so he suggested the best way forward was to try Mehta casting to attempt to get the curve under control.  We decided that over the summer before using Mehta casting that we would have one more attempt at bracing with a new design methodology. 

The new brace has been more uncomfortable and restrictive with numerous complaints from Evelyne when putting it on and more when traveling in the car. It also has a tendency to put holes in her clothing. However after 4 weeks in this new brace, today we had an x-ray. The x-ray showed a curve of only 41 degrees! It is encouraging to see that the brace has reduced the curve, however we will still have to monitor how well she is tolerating the discomfort and watch for any pressure areas. The next few years will be a juggle between wanting treatment to be effective, but making sure it is able to be tolerated by Evelyne.

Brace shirts

Evelyne has had frequent problems with rubbing from her brace. This has significantly worsened in the new higher design, in particular under her arms. Through a couple of my online contacts, I heard of shirts specially made for under casts and braces. There are different types, one brand called 'knit-rite' which make a cast t-shirt (to be worn under a plaster cast), and another 'the Boston T' or 'the Boston Silver T' (made for boston braces). They reduce perspiration, bacteria, are cooler in summer, and can be changed to reduce smelling and itching. 


I tried to find the shirts online and always hit brick walls. The main being that they would not ship to Australia. In a last attempt to find one I posted a request on an online forum for infantile scoliosis. Success! Within a week I had an offer to post some to me from the US and not long after they arrived. The shirts we got sent are the Boston Silver T and are specifically designed for a brace. They even have flaps under the arms to reduce rubbing in that area. They have made a phenomenal difference to Evelyne's comfort levels. She is kept cooler, less sweaty and smelly, and most importantly - no sores under the arms or on her spine!


Here is a picture of her showing off her new singlet.

Reflux and pressure sores

Unfortunately, there are many 'side effects' of having a brace or cast on.

Two we are dealing with daily are reflux and pressure sores.

Both my kids had reflux as babies, Samuel took until he was 4 to grow out of his and wean him off his medication. Evelyne's reflux was not as severe as a baby, and it wasn't until we applied the cast that it became much worse and medication was needed. The tightness of the casts and braces squeeze and put pressure on the tummy and can cause the contents to be pushed back into the oesophagus. It is also uncomfortable to eat big meals and I've heard others with spinal braces as teenagers recommend smaller, more frequent meals. At the moment Evelynes reflux is managed with medication, leaving more time between meals and bed, and avoiding some foods close to bedtime.

Pressure sores are also reasonably common on the bony prominences of the kyphosis of the spine (the hump), and sometimes on the hips where the brace or cast sits. Evelyne has a constant red area on her back which occasionally breaks open and requires something like duoderm to dress it. Fortunately in a brace, you can check it and dress it if needed, in a cast often sores are open and remain untreated. In the picture you can see the gel dressing with a groove in it from the brace digging in! (The red area is a birth mark).

Both these issues can be painful for her, but unfortunately, they are the lesser of the two evils. The treatment of her spine and attempting to manage the progression of her scoliosis is more important at this stage. So for now, we attempt to alleviate the symptoms as best we can.

Casting for a new brace

Evelyne was casted for her new brace yesterday.  It was our third casting without a general anaesthetic.  I took the camera in this time as it's been hard to explain exactly how it all happens. 

She was amazing! She was clearly not very keen, but stayed still and whimpered only when the plaster first went on.  I was very proud of her! Sam sang songs to her while it was happening, and watched with interest. I should have taken a photo of him too!

Getting ready with a stocking type covering against her skin

Strapping her on the bed

My mum calls the 'bed' a 'rack'

Applying the plaster bandages

 Waiting for the plaster to dry

Cutting the plaster off

We will pick up the new brace next week. She picked pink butterflies! It will be a lot higher than her last brace and therefore more restrictive. We are hoping and praying she will tolerate it and also that it may be effective in holding off operating for a bit longer.

Casts and Braces

I'm by no means an expert in this area.
All I know is what I've experienced and a few snippits I've learnt recently from my Beals connections. The braces and casts vary depending on the height of the curve and the specialist team.  Some examples of braces and casts I've seen recently:

In infantile scoliosis a cast or brace is used to control the curve.  In some cases of infantile scoliosis, the curve can be improved.  One of my new 'facebook friends' has a son in this situation.  Her son does not have Beals Syndrome, but was born with infantile scoliosis.  He is responding well to casting.  See his progress here. 


Unfortunately, in Beals Syndrome, the curve tends to continue to develop regardless. 
As you can see from Evelynes x-rays in my post on scoliosis.
Casting or bracing can still be used however in an attempt to slow down the progress of the curve.  I've learned recently that a plaster cast tends to get better results than a brace.


As you may imagine, casts in babies or toddlers can be difficult.  
They can be hot, heavy, and uncomfortable. They make fitting clothes difficult. 
If they're not walking yet it is difficult to hold them and carry them around. 
Casts can't be removed, so no baths.  
It's also important to try and keep them clean and dry. 
Fun with a toddler!


Some ways I managed were:

• Gorgeous, large, waterproof bibs made by my mum
• Still allowing some 'controlled' waterplay with a smock
• Antiseptic powder for those nappy explosions
• Smaller nappies, changed more frequently to fit under the cast
• Larger, elasticised clothing such as leggings
• Clothes with higher necklines
• Unfortunately avoiding things like sandpits and the beach
• A portable air conditioner in her room in summer
• A lightweight pram in the boot at all times.  Other mums I know have used slings or backpacks.

The last picture is of course what not to do!!

Scoliosis

One of the possible features of Beals Syndrome is scoliosis.  It does not develop in all Beals cases, and some cases will only develop in adolescence or later in life. Due to the connective tissue disorder the scoliosis will continue to worsen with age if not treated.  One article I read, stated it has a 'tendancy to rapid progression'.  If not treated this can result in restrictive lung disease and the possibility of other issues with internal organs. 

In Evelyne, we discovered the scoliosis at 4 months of age. The first x-rays showed a small but distinct scoliosis (first x-ray below). She was booked into the spinal clinic to monitor the curve. Each x-ray showed the curve clearly worsening.  


At this stage they wanted to monitor the curve, and await the diagnosis before proceeding with any treatment.  The hope was that the spine might stabilise. The physios made a special chair for Evelyne in order to try to protect her spine and limit degeneration. She was known as "Queen Evelyne" at playgroup - sitting on her throne! 

In December 09, when the diagnosis of Beals was confirmed, the Doctors went into overdrive!  We had a meeting with about 5 specialists in the room to discuss treatment.  It was decided that Evelyne should be put straight into a plaster cast. 


Evelyne was in the cast for 3 months. This was an extremely difficult time.  The cast was made from plaster covered with fibreglass.  It was heavy and hot, and difficult to change nappies and keep her clean.  She could not bath or swim and struggled under its weight as she tried to master standing and walking.


We moved onto a fibreglass brace from this point which can be removed for about an hour a day. In this first brace the curve was reduced to 35 degrees.  Although I was surprised it was still so high, the doctors were happy with 'maintaining' the curve at this level. In Evelyne's case, the aim to cast or brace was not to 'cure' or 'fix' the curve, but to maintain it to a safe level until they operate at some stage in the future. In the second brace the curve had worsened to 40 degrees. The third brace was thus organised.  We will find out how the curve is progressing in this brace later this week.

Brace 1                           Brace 2                        Brace 3 - with brother Sam 


I plan to write more in the future about: my tips and tricks for living with casts and braces; dealing with general anaesthetics; casting without sedation; future surgery.