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.

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

Holidays

In the recent school holidays we had the opportunity to use a friend's time-share unit for a week. It was wonderful to have a restful family holiday. We do spend quite a bit of time visiting family etc but it is usually related to doctors visits and various clinics.

Samuel loved fishing, going out on a boat, swimming in the pool. Evelyne enjoyed the beach and the pool. It's hard to imagine her being in a cast soon and having to avoid some of these things she loves so much!

Here are some pics.

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.

Birthday Girl

Evelyne turned 3 this week. She is very excited to be a 'big girl' and says "I'm growing up!"  


It was a relatively quiet birthday, with a play date at the indoor playcentre on the actual day and a friend over on the weekend for the 'real cake'. 


Here are some pics...

Mehta Casting

I have been doing more research into different casting techniques in the hope of finding another alternative to try before surgery.

I had heard many times of Mehta casting, which is perfomed by some doctors in the US. However I did not think it was possible to have this technique done in Australia. I have recently found out that there is a doctor who has hands on training in Mehta casting in Australia, and that his hospital has one of the specialised casting tables required. We have booked in to see him in the hope that this style of casting may be an option for Evelyne.

Although we know she will eventually require surgery, we are still hoping that we can hold out longer. You can see a clip about Mehta casting below.

http://youtu.be/zuQE77EGgNU

Mehta Casting

UAB Orthopedic Surgeon Dr. Joseph Khoury explains the process of Mehta casting and how it is used to treat infantile scoliosis.

by uabhealth | 3 years ago | 24,994 views

Australian Story - Marfan Syndrome

The ABC show Australian Story recently featured a family with Marfan Syndrome.

Marfan and Beals Syndromes are very similar. Marfan Syndrome involves a mutation of Fibrillin 1 whilst Beals Syndrome involves a mutation of Fibrillin 2. They both involve long stature and long slender limbs. However typically skeletal issues (such as scoliosis, clubfoot, joint contractures) are greater in Beals Syndrome, and heart issues (life-threatening defects of the heart valve and aorta) are greater in Marfan Syndrome.

In this episode of Australian story, Alisa and her two brothers were born with this genetic disorder, passed on from their mother. The show explores Alisa's desire to have children, however her concerns with passing on the gene to the next generation. People with Beals and Marfan Syndromes have a 1:2 chance of passing the gene onto their children. The decision of what to do in this situation is very difficult.

Alisa's story is complicated by the fact that due to her heart involvement, her life would be at risk if she bore a child, regardless of the genetic decisions.

Although personally we have decided not to pursue avenues of genetic testing in order to have more children, this is something that Evelyne will have to make decisions on one day.

You can watch the episode via the link below until 21/08/11.

http://www.abc.net.au/iview/#/view/801928

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

New Brace

We got final adjustments made to the new brace last week.  Here is the final product!
It is essentially the same design, but higher at the front of the chest to force her shoulders and upper back into a better position. 

 

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

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.

Spinal Conference

Last week we got an amazing opportunity. A spinal conference was conducted at Westmead with specialist surgeons from Australia and overseas. My doctor had originally informed us he would show Evelyne's x-rays to them to get their feedback on future treatment. Last week I got an email requesting that Evelyne come to be presented!


It was a strange day.  I was so excited and nervous about what would happen.  I had no idea what to expect. My only information was that she would be 'presented in a lecture theatre'. I was excited that we got the oppotunity to be assessed by overseas specialists, yet nervous about how they would treat her.


We arrived along with 4 other children and their parents and were led into a room next to the lecture theatre.  We were told that one by one we would be called for to be 'presented'.  While we waited (approx 2 hrs) we were supplied with catered food and drink and got the chance to relax and chat.  One parent commented on how well we were being treated.  Another stated "That's because we're the entertainment!"  My doctor was also being especially nice. Were they helping us? Or were we helping them learn?  


It was a bit of both I think.  When Evelyne was presented, information about Beals Syndrome was also presented.  It was clear that some may not have been that familiar with this disorder. She was laid on a bed at the front of the conference (approx 40-50 people) and given a teddy to hold. While the majority of the conference stayed in their seats making notes, 4 doctors came forward to examine her.  I was impressed with how well they treated her and how well she behaved. One in particular knelt down and talked to her and showed her his funny cartoon tie.


After only 5-10 minutes being assessed, we were asked to leave so the doctors could discuss her case.  Last night I finally got a phone call from the doctor with feedback (the special treatment only lasted as long as the conference!).


The news however is more promising than our last assessment.  The specialists (I think from the U.S) suggested an alternate brace design.  They advised that with higher support, possibly over her shoulders, we might get slightly more time before needing to operate.  We are hopeful that this might be the case!

She loves the bear!

Stethoscope image: jscreationzs / FreeDigitalPhotos.net

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!!

Dealing with disappointment

How do you deal with bad news, or bad results? When you hope for improvement and find out the opposite?


Eve's spinal Clinic on Thursday was unfortunately one of those days.
Her curve has increased again, and it appears that it will not be held off by bracing or casting.
The surgeon has informed us he will need to start operating sometime soon, which means, within the next year.
After reading more online it appears that not only does scoliosis in Beals Syndrome tend to 'rapidly progress', it also at times cannot be slowed without surgery.


How do you respond to such news?   
Do you cry? Do you get angry? Ask God, why her? Look for second opinions? 
I just felt sad and disappointed.  


After a few tears (ok, lots), I have moved on to trying to find a positive through this.
1. Less pain and discomfort?  I have joined the Scoliosis Australia Forum, and many people who have been through surgery report less pain afterwards.
2. Good timing.  A team of specialists from around the world are visiting next week.  Our surgeon is going to present Evelyne's case to them and get their expert advice.  
3. She will be taller!
4. God has a plan for her. I need to trust that He is in control. 


Romans 8:28 (NIV)
And we know that in all things God works for the good of those who love him, who have been called according to his purpose.

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.

Evelyne

Evelyne was diagnosed with Beals Syndrome (Congenital contractural arachnodactyly) at 15 months of age.  We have gradually found out more about what living with Beals Syndrome will mean for her and us in the long term. Due to its rarity, there is little information available and many of the health professionals we see also have little or no experience with this condition. 

I have decided to start this blog to put down our story, as well as to make available information on this condition as we learn about it.  I also hope to include the experiences of others around the world also living with Beals.

Beals Syndrome is a genetic disorder which affects the connective tissue in the body.  People with Beals will have varying features of the disorder including long limbs, long fingers and toes, contractures of the joints, hyperflexible joints, club foot, crumpled ears, scoliosis.  It has some similarities to Marfan Syndrome and until recently was often misdiagnosed as such.

There were many indications from birth that something strange was going on with our beautiful little baby.  She was a tight little ball who didn't want to stretch out! She had what we thought were funny ears, fingers and massive feet. I also had trouble feeding her due to low muscle tone. It wasn't until a couple of months later, when her joints were still not straightening that the doctors sent us to a physio.  It was around this time that I noticed the lump on her back which I suspected to be a scoliosis.


At about 6 months of age we got put in touch with Westmead Childrens Hospital genetics and rehab teams and things snowballed from there!  The official blood test results confirming Beals Syndrome took almost a year to confirm.

We have come to see that God has given Evelyne the perfect personality to deal with her condition. She is a happy kid, with amazing independence and determination. At the age of two and a half she now plays, runs and dances with other kids and wants to do everything herself! I'm looking forward to writing more about our experiences and our little girl soon.