Monday, 23 May 2011

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.

Tuesday, 17 May 2011


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.

Tuesday, 10 May 2011


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.