More challenges in troubled times, another Spinal Surgery!

We found out a couple of months ago that Evie has almost grown out off her current set of spinal rods. It was not a surprise, and we were pleased to be able to pick the date for the surgery we wanted, mid-year, to fit in with school holidays, and a good amount of time to recover before end of year activities and high school.

As Australia followed the rest of the world into shut down due to Covid-19, like many others, I've been struggling with the new reality of having the kids learning from home, whilst I try to work from home as well. There was also the added worry of keeping Evie away from the virus due to her lung condition.

Then a phone call came. All elective surgeries had been cancelled. However Evie's spinal surgery did not fall in that category, as she would not last indefinitely without the new rods to allow her body to grow. As such, her surgery was made Category 1, and we had a new date, April 17. This added another added layer of anxiety.

Of course, as many of you know, the prospect of surgery in itself is extremely hard. Those who know us, or have read previous posts would know that the pain for Evie is extrordinary, and me watching her, it is awful. Add in the additional risk of Covid-19, a hospital in lockdown which means Jon and Sam can't visit, not being able to see grandparents, or stay with them after for more recovery time, all this is overwhelming to say the least.

The last couple of weeks have been hard, and will be until after this is all over. So many aspects about what is going on at the moment are completely out of my control. All I can do is trust God that Evie is in His hands. Whilst hard, it is a comfort to know I need not fear, but I can call out to Him in hard times.

This Psalm from the Bible is so comforting right now.

Psalm 46

1 God is our refuge and strength,
    an ever-present help in trouble.
2 Therefore we will not fear, though the earth give way
    and the mountains fall into the heart of the sea,
3 though its waters roar and foam
    and the mountains quake with their surging.

4 There is a river whose streams make glad the city of God,
    the holy place where the Most High dwells.
5 God is within her, she will not fall;
    God will help her at break of day.
6 Nations are in uproar, kingdoms fall;
    he lifts his voice, the earth melts.

7 The Lord Almighty is with us;
    the God of Jacob is our fortress.

8 Come and see what the Lord has done,
    the desolations he has brought on the earth.
9 He makes wars cease
    to the ends of the earth.
He breaks the bow and shatters the spear;
    he burns the shields with fire.
10 He says, “Be still, and know that I am God;
    I will be exalted among the nations,
    I will be exalted in the earth.”

11 The Lord Almighty is with us;
    the God of Jacob is our fortress

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.

Second surgery - new rods

Two weeks ago Evelyne had another major surgery to remove her old Magec rods and insert new longer rods. Since her first surgery, Evie has been lengthened every 3 months, and reached the end length of her rods sooner than expected. A result of a Beals Syndome catch 22. Whilst the flexibility in the connective tissue is what made Evelyne's spine super bendy in the first place, the flexibility also meant her surgeon could straighten her relatively quickly, thus running out of length.

Leading up to the surgery Evie (and myself) were very anxious. Unfortunately having been through it before meant we were not looking forward to the surgery or aftermath. Anticipating the pain she would be in was the main worry. We distracted ourselves by planning a brilliant 9th birthday party the weekend before. As well as a bit of activity planning, relaxation oils, music downloads and lots of prayer.

The operation was longer than expected, so Jon and I were pleased when the surgeon emerged to tell us it was all over and she was in recovery. He informed us that much to his surprise, the existing screws had come loose in her spine. In his wording, two were extremely loose and one was "swinging in the breeze"! He was surprised that she had not been experiencing associated pain. We had hoped the surgeon would be able to just replace the actual rods, however, he had to remove all 4 screws, with 3 larger diameter screws, whilst having to drill a new hole for the 4th. He was happy that the anchors were now very secure and as a result she won't have the same restrictions as her first surgery. He was also confident that her recovery would be quicker than last time. All in all, very positive news.

The following days in hospital were still painful and long. Long days and nights with frequent repositioning required. Evie also had some issues with pressure injuries this time, but as an OT, I'm glad to be in the right industry to know how to deal with these! We were prepared with movies, music and audio books, and the DVD stand was again a godsend. Overall, everyone was pleased with her progress and she was able to get up and walk earlier than last time. The surgeon was happy with her x-rays, so we left hospital on her birthday with a bit of determination to get out of there! 

Heading home

For the last week Evie and I have stayed in Sydney, at our 'home away from home'. My parents have opened up their home, and in fact partially designed their house with Evelyne's medical appointments and recoveries in mind.  I am so grateful to have this provision, and my mum to look after us! We have enjoyed many hours of colouring, visits from cousins, craft activities, movies, and our now tradition of her first outing to Cold Rock Icecream. It has been a smoother process this time, knowing what the main issues would be. So were well set up with a lowered bed, lots of pillows, shower chair and toilet rails brought from home. 

Today we have finally made the trip home to Bathurst. Dosed up on pain meds and lots of pillows, it is always sad to leave my parents, but will be so good to be home!

Spinal Lengthenings ..... and an update

One of the major benefits of Magec rods is the fact that they can be lengthened externally. Each rod has a small motor that is activated magnetically via remote control and will expand the rod to a predetermined length. This means that the rods can lengthened to suit the amount she's growing, as well as the surgeon being able to lengthen one side more than the other to gradually correct the spine.

Evelyne has been having lengthenings every 3 months since the rods were placed in January 2016.
Whilst it is so much better than surgery, it is still painful. The first lengthening was especially painful. Possibly due to the length of time since surgery, possibly due to recent bone work and bone grafts, possibly her spine may have been starting to fuse in places. Yet again we weren't prepared for it to be painful. I had been told by other parents that lengthenings were pain free, but unfortunately this was not our experience. Each time the pain has lessened, and now we give her pain medication before we go.

Today was Evelyne's 6th lengthening. To our surprise, it turns out today was the last lengthening for this set of rods. As she was so small when her surgeon first inserted the rods, he was only able to fit the smaller length in. We had thought we had a bit more time before the next surgery, but it is now to be scheduled for September. The good news is, the doctor anticipates that he will be able to keep the current screws in place and just replace the rods to the longer version. This will result in a slightly shorter surgery, and hopefully shorter recovery.

A few tears from Evie today as she thought of another surgery. Last time we saw the surgeon and he mentioned another surgery soon, I said "I only just got over the last one!" To which Evie replied "I still haven't gotten over it!

I was recently reminded of a previous blog post of mine Dealing with disappointment. Whilst some appointments and parts of this journey are disappointing, it is good to remind myself how far she's come since 2011, as well as remind myself that God is indeed in control, and find comfort in that.


A painting Evie made for her doctor today. He affectionately calls her "E.B"

A year on with MAGEC rods - A 'work in progress'

It's been a year since Evelyne's surgery and over a year since I last posted. So much has happened last year. Thank you to those who have sent messages asking about her progress. Some of this was written 12 months ago and has been sitting in my drafts.

Magec Rods (MAGnetic Expansion Control)
On January 7th 2016 Evelyne had surgery to implant magec growing rods. We had been awaiting this day for years and the time finally arrived.  Surgery was discussed as the next option in May 2011, but I sought out a new specialist with new options such as Mehta casting who encouraged us to wait as long as possible before operating. Waiting the extra 5 years not only gave her body valuable time to grow, but it allowed us to have access to the amazing technology of Magec Rods. They have a small motor in each rod which is activated via an external remote control. This enables the surgeon to lengthen the rods as Evelyne grows without re-operating each time. Dramatically reducing complications associated with frequent surgeries as required with traditional growing rods.

Surgery
Leading up to the surgery we were all nervous wrecks. I had little sleep before and so many doomsday scenarios ran through my head. But Evelyne was so brave going in, and then we had to wait.
4.5 hours later her surgeon came out and told us he was finished. He was happy with the final results but reported that it had been "tricky". The kyphosis hump had become quite rigid (a negative side effect of waiting longer) and he had to chip some parts of the bone to get it straighter.  Also, once in place, when beginning to stretch the rods, one of the screws started to come out of the vertebrae.  A bone graft and a few extra secures later and he was confident in the end result. He informed us that he saw her as a "work in progress", with this surgery being a stepping stone in the process of straightening her spine over the years to come.

Recovery
I wasn't prepared for the pain she would be in post-surgery. It was so hard to see her lying there and I was completely powerless to help. I probably hadn't prepared her for it either. It will be hard to forget the look in her eyes when she looked at me and said "Mummy, you said 'a bit' of pain". It was a long week. 
We made the most of movies on the ipad to pass the time. Another mum I have 'met' via facebook, has written some really helpful things down on preparation for hospital in her blog post.
A major milestone was walking again on day 4. With the main motivation being using a toilet rather than a bed pan. Then on day 8 we left the hospital to spend another week at my parents place before the longer trip home to Bathurst 2 weeks after the operation. 

Other things we had to put in place post surgery 
- A bed lower to the ground. 
- Sleeping in our room for the first few weeks as she needed help to move in the night
- Help on the toilet
- Pillows. Lots of pillows. In the car, on chairs, in bed.

Longer term recovery
Again, I wasn't prepared for how long it would take Evelyne to recover. I had thought about the short term, but not the long term implications. 
She returned to school for the start of the new school year, 3 weeks after surgery. However she was still on strong pain medication, and would fatigue very quickly. Due to the bone graft, she also had added restrictions in the classroom and playground. We put in an application for additional funding at school and were fortunate to be provided with a full time aide Deb (pictured right). Amazing grandparents also spent 2-3 days per week with us for the entire Term 1, so I could continue to work. 
By term 2 she was off pain medication, we no longer needed our parents help through the week, but she was still reliant on her aide and her wheelchair for school.

Wrapping up the year
Now this all seems like a distant memory. Although she still has restrictions, occasional pains, discomfort and fatigue. By the end of 2016 Evelyne was able to participate in some of her school athletics carnival, was a star on stage singing and dancing at her school talent quest, and won an end of year academic achievement award. She's pretty special.

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.

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'.

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

Surgical Options

I have been doing research into various options available for surgery.  I want to be prepared so that when D-day comes we have explored all our options and feel confident with the technique and surgeon we decide on.


I have discovered that there are doctors performing different styles of scoliosis surgeries for children around the world, and also within Australia.  From what I have discovered so far these are the main options for the growing child. 
NB. This is just info I have collected from websites, forums and other contacts. I approached this with a blank slate, as a mum, not a medical professional.


Growing Rods - Single or Dual

The theory of  growing rods is to allow for continued, controlled growth of the spine. This is done along the back of the spine. One or two rods span the curve under the skin along the length of the spine. The rods attach to the spine at the top and bottom of the curve with hooks or screws. The curve is not fully corrected, but 'controlled' whilst the child is still growing. They then return every six months to have the rods lengthened via keyhole surgery. 


There are a number of possible complications. For example, hook or screw dislodgement, rod breakage, infection, high sensitivity and poor healing of wound site for recurrent lengthenings.  A family I have contact with in the US have an 8-year-old who has gone through 8 surgeries in 2 years due to rods breaking and screws loosening etc.

Vertical Expandable Prosthetic Titanium Rib - VEPTR

VEPTR rods were developed for children with scoliosis with chest wall abnormalities or lung involvement. They attach to the ribs and also involve regular lengthenings as the child grows.  
This technique is unfortunately thought to be less effective in curves that do not involve thoracic spine or chest cavity abnormalities.  There are similar complications to growth rods in regards to infection and wound site, however from what information I have read, I believe less hardware problems. 



Vertebral Body Stapling
A technique to 'staple' the vertebrae together in an attempt to strengthen the spine, an alternative to bracing.  It is not suitable for curves over 45 degrees. However some surgeons combine growth rods with vertebral stapling as an additional support to the growing rods. This is dependent on the type of curve, the position and the correction achieved with the rod placement.  The same complications as growth rods exist.















Luque Trolley or Luque Rod system

A rod system which consists of 4 rods-2 each side of the spine. On each side of the spine, one rod is anchored at the top, the other anchored at the bottom.  Then on each pair of rods on each side, there are intermittent loops of wire attached to the spine holding the pairs together. So as the child grows, the rods can slide apart a bit more. This system may mean less surgeries as the 6 monthly lengthenings are not required.  However, since the wires pass through the spinal canal, this system poses a greater risk of neurological damage than other systems. 








Links:
Futuremedicine - Current concepts early-onset scoliosis
www.scoliosisnutty.com
Growing Rods
Scoliosis Research Society - growing rods
Scoliosis Research Society - idiopathic - growing rods
The growing Spine e-book (pages 449-467)
VEPTR
Scoliosis Research Society - VEPTR
Medcastle Scoliosis VEPTR
Veptr support site
VBS
Vertebral Body Stapling Procedure for the Treatment of Scoliosis in the Growing Child
Scoliosis texas - VBS
Spine Universe VBS
Luque
Luque rod system
Review of Luque system
Review of Luque System 2
Review 3