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.

Cast update

Last night we had to have Evelyne's cast removed. The last 4-5 days she had started complaining of pain and discomfort. It was particularly when I picked her up, sitting in chairs and she had also started sleeping on her front. Looking at the cast, it appeared that it may have shifted position. After a discussion with the hospital physiotherapist we realised it was highly probable she had developed a pressure sore.

We had it removed at our local Emergency Department to find that unfortunately she did have a pressure ulcer on her spine. I'll head back to Sydney to see the doctor in spinal clinic Tuesday to decide the next plan of action. 

Curve progression and casting

Evelyne's last x-ray in her quad brace showed that the curve had again progressed. It was not a huge surprise to us, as we could visually see the spine not staying in place in her brace.  Her scoliosis had progressed to 57 degrees in the brace. As a result we decided to go ahead with casting while we are still in the cooler months. I was quite optimistic about how the casting would go this time around. She is older, walking, not in nappies, feeding herself. All factors that made the cast when she was 12 months difficult. I continue to forget however that each new step brings it's own challenges!

Last week Evelyne was fitted for the new cast.  It was done by our new specialist on the 'risser frame' in the same style as the 'Mehta' casts. She was put under a general anaesthetic and they needed at least an hour to mould it to shape.

Waiting                                                                     Recovery

Leaving the hospital

The next few days were very hard.

Day 1 was especially as she struggled to learn to balance again under the weight. Simple things like walking and sitting up were difficult.

By day 2 she was up and walking and even trying to run a little, but still unable to get on and off the toilet herself, turn over in bed, and get on and off chairs.

Day 5 I took her back to our local physio to trip some of the plaster from around her arm holes to improve movement in her shoulders.

Day 6 She was at preschool playing in the playground with the other kids.


Today, 10 days on and she is her normal happy self. 
She is sleeping in her own bed, playing, running, dancing (although she still needs help for the toilet).  She copes better than I do when she goes through a new stage. 

It takes me a while to get used to seeing her struggling. It is also hard getting used to seeing how bulky it is on her. However she has the determination to work at it until she achieves what she wants. She's my little trooper!

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.

Respiratory problems

A couple of months ago Evelyne was diagnosed with Restrictive Lung Disease. It came as a bit of a shock, although we knew there were issues with her lungs. We were sent to a respiratory (lung) specialist for a check up after I identified she had undergone more than her fair share of chest infections last winter. She also often sounds a bit wheezy, finds it difficult to cough strongly and can get quite breathless. I had always assumed these symptoms were to do with the restriction the brace puts on her chest cavity.  The specialist informed me that he would categorise her as having Restrictive Lung Disease, and that he believes this is due to her scoliosis. He believed the curve was reducing the space available for her lungs to function normally. Although our spinal specialist believes the restriction may be more from the effect of the tight brace.

Since this diagnosis Evelyne has been using a nebuliser daily. She has hypertonic saline in the nebuliser in order to reduce the build up of mucus in her lungs. It encourages her to cough and clear the airways.  It is again not something she enjoys, but something we have had to build into her daily routine. She had a couple of chest infections at the beginning of winter, but they seem to have slowed and be less severe than last winter.
We also have been using a pram more to reduce her breathlessness, and have applied for a specialist pram through the hospital.

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.  

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.