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.

Tarron's story : Knees

As I have had little experience so far with issues of knees, I asked another mum to write of her son's experience. 

Tarron is 14 and was diagnosed at birth with Beals, he has been very fortunate and has not developed scoliosis thus far. He has all other characteristics of beals, but the issue we are dealing with now are his loose patella (knee caps).

Tarron has always had knee contractures but they really started to give him problems when he was about 10/11 years old. His knees started to dislocate very easily, some times more severe than others. This is very painful for him and sometimes would take him out for almost a month. When his knee dislocates, fluid builds up, so his knee become very painful and hard to move, the first week or so he cannot bend his knee. We have to use a splint and crutches until he becomes mobile again and can bear some weight.

We now use bilateral knee braces, and thankfully, we have not had any major issues in the past two years. This is just a temporary fix until he has surgery. He has dislocated his knees with the braces, but to a milder degree. Tarron is a very active 14 year old, and with the help of the braces, he can ride his bmx, run, or play any type of physical sports. They are the security blanket he needs, in order be a typical 14 year old.

Tarron's patella's are almost two inches above where they should be, they are also very loose and he can move them at will. A boy knees will fuse properly together around the age of 17 years old. Tarron has always been taller and his body seems to mature faster than other boys his age, which is probably why his knees are ready for surgery now. He is set to have surgery within the next two years as we have to wait for our doctor to fit him in. The surgeries will take place approximately 6 months apart. We have a surgeon who is one of the best in the area, and one of the only doctors in our area who will deal with this particular knee issue.

Hands

One of the characteristics of Beals Syndrome is long, slender fingers. The joints in the fingers can have contractures or be hyperflexible depending on the individual. In fact, in Evelyne's case she has some joints in her hands that are hyperflexible, and others that are fixed or contracted. It is also common for the thumb to be adducted, or tucked into the palm.

I have been informed that the main issue in the future will be her hands getting tired or sore with use, as well as weakness in the joints. Those I have had contact with who have hand contractures report that they still have full functional use, although their hands may not look 'normal'. One adult wrote that he only has 40% use of his fingers, but works on computers with an 'adapted style'. Another who has hyperflexible joints reports of her hands getting 'tired' easily and not being able to cope at times.

When Evelyne was born, her hands were one of the first 'out of the ordinary' things we noticed. She had tightly clenched little fists and was very relucatant to bring her thumb out. As she got older and wanted to use her hands we discovered she could open her palm and extend (abduct) her thumb, however, she often still tried to use her hands without her thumb. We had a soft neoprene splint that we used at this age to encourage her thumb to stay out of her palm. As she got older, she began functional use of her thumb.


For the past 2 years or more, we have not worried about her hands, as she has had full use of them. However in recent months, since she started pre-school, her Occupational Therapist has wanted her to start using her pen or pencils with a better grip, in preparation for hand-writing. Her natural hand position is to tuck her thumb in and draw with a fist. We tried strapping, by taping her thumb into a fixed position, but Evelyne was not very impressed with this option. We then tried a thermoplastic splint (pictured below) to be worn when she is drawing. Again, Evelyne is not keen to wear the splint, but says "I'll do it myself", showing me the correct hand position. Even with the splint she does not last as long colouring in as she used to, as she complains of her hands being sore. It is something we are still working on. Other things we have been using to make it easier include: a slope board, pencil grips, and scissors with springs in them. These are all meant to reduce fatigue in her hands.

I am yet to find out if her flexible joints may in fact become fixed in the future. From what I have read, I believe this may be the case.

Flower girl

Evelyne was a flower girl at a close friend's wedding a couple of weeks ago.


We took her brace off for the afternoon so she could wear the pretty dress and move more freely. She did a great job, especially at staying still for photos (I think it's the practice from x-rays). By the end of the afternoon, after a few hours out of her brace, she was visibly struggling with tiredness. She could barely hold herself up and collapsed into bed once home (thanks Nanna and Grandad!)


It was a special day and I think you'll agree she looked gorgeous! 

Preschool

This year Evelyne has started preschool! She is attending our local preschool one day a week. It is a wonderful parent run preschool with great staff and facilities. Samuel has attended there for the last 2 years, so Evelyne is very familiar with the environment and the teachers. 


We managed to get funding for a full-time teachers aide which has taken some of the worry out about how she will cope. And I think it will give us a good idea about how she will go in a couple of years at school and how much assistance she will need.


At the moment she needs some assistance with safety on the outdoor equipment (due to risk to her spine), help with her clothing for toileting (due to the brace).  The preschool has a special cut out table and slope board which makes it easier and less strain to do work at the tables. We also need to start working on her hand position for pencil grip.


She loves painting, glueing, reading and singing and proudly displays her craft and sings us the songs once she gets home. The only problem is she finds it hard to wait until the next Friday comes around!


The photos are of Evelyne's first day. She is grumpy because she just wanted to get out the door!

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.