Starting school

Evelyne started school last month and she is loving it! She is attending our local public school (same school as Samuel) which is only a short walk from our house. Incidently it is also the same school I started Kindergarten in almost 20 yrs ago. She is in a standard Kindergarten class with a part-time aide and some extra equipment to help her.

This includes:
- Her pram/buggy, to get to school, and to leave at school for when the kids walk longer distances or she gets tired
- A cushion for her chair as she was experiencing pain on her kyphosis when sitting
- A peanut cushion for sitting on the floor, to avoid 
W-sitting
- A splint for her wrist and thumb and a pencil grip
- A beanbag for floor sitting when tired

We are also in the process of organising a step and rails for the toilet (she is in a classroom with it's own toilet). This will be mainly needed for when she is fitted with another cast in April.

Her main issue, as we expected has been fatigue. As expected she has friends, loves classwork, loves her teacher, and is very independent. However she is exhausted by the afternoons. Although all new school kids experience this, with the added difficulty of her lung restriction, she was struggling. The first few weeks were especially difficult with the heat. The teacher and aide have been using her pram for longer distances, but have found they were even needing it for the short distances also. As a result the school have applied for more funding so her aide will be available more hours. This again, will be especially helpful come April, when she will need more assistance in the cast.

I was a mix of emotions leading up to her beginning 

school. Some excitement, some nerves and worry. It was hard to hand her over to others for so many hours in the week. However I am very happy that the school have been so helpful and I am confident that they are looking after her.

Our local paper did an article in her first week of school. It was a great article you can read the online version here

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'.

Busyness and daily struggles

I'm sure most parents will agree that life with kids is busy. But those of us with kids with special needs will know that the busyness triples at times. I've realised it has been over 2 months since I last posted and I was trying to think about what had happened in the past 2 months. I feel like its been a whirlwind of work, housework, church, meetings, kids sport, ballet. But then added on top is OT appointments (for Sam as well as Evelyne), physio (for me as we'll as Evelyne), GP (for all 3 of us), paediatrician, rehab specialist, orthopaedic specialist, spinal surgeon, dietitian, orthotist, yearly visits to the cardiologist, ophthalmologist, and I may have missed one or two.

I'm not sure how to avoid this busyness.  Sometimes I don't know how long I can continue the relentless appointments and treatment. I have wondered at times if Evelyne really 'needs' to see all those people. Or if I should work on one thing at a time. But unfortunately the nature of Beals is it affects so many different parts of the body. Connective tissue is everywhere! And appointments with spinal specialists and orthotists are very important to keep on top of when dealing with a worsening scoliosis. 

As well as busyness in our daily scedule, there is also the tendency to feel overloaded emotionally. I tend to go through stages where i feel very overwhelmed and out of control. I hate watching the daily struggles that Evelyne goes through. When she is in pain while her body adjusts to a new brace or cast,  when she struggles with sickness and chest infections and we have to force her to use the nebuliser, or simple things like her struggle to run or do ballet steps like her friends.

I have come to realise the importance of friends and family who understand. The times I can cry on a friends shoulder, have a cuppa and some chocolate and a debrief. It is so important to have these people in my life for support when I do feel down and out. To have their emotional support as well as practical support when I need it. I am very thankful to God for the family and friends he has given me who are such an encouragement in the tougher times. 

Another short-lived cast

On Friday we had Evelyne's cast cut off. It had been on for 5 weeks this time, so I was happy that it was a longer stint than the last one. We had three good weeks after she got used to the new cast. She was happy, independent and enjoyed playing at home and preschool. However over the last week she started complaining of pain. In particular she found sitting in chairs and in her carseat difficult, and she started waking in pain through the night also.

As a result we had the cast cut off locally. It was a very hard decision, as we really wanted this one to last longer. The ordeal of travel, general anaesthetics and xrays mean that the longer a cast can last, the better. However the change in her mood was demonstrating that something was wrong. We found that again there was a pressure sore on the point of her kyphosis. In the same spot as the last one. This sore was slightly wider, but thankfully not as deep as the previous sore. 

It is disappointing, but I am glad that we made the right decision. Leaving it longer would have meant a deeper sore, and a longer time for it to heal without any sort of support. On the positive side, Evelyne is enjoying her 'freedom' and she can now put on her shoes and socks by herself. The sore is healing well and we may even be able to put her brace back on her this week. Plus the first bath in 5 weeks was exciting!

P.S. Milly had her 'cast' cut off too. Evie talked her through the procedure and she was very brave.

A new spinal cast - with a 'twist'

On Friday Evelyne had another spinal cast applied.  I have been dreading it since our last experience ended with us having to remove it after 3 weeks due to pressure sores.
After discussions with her doctor, Angus Gray, she had the cast applied over a knit-rite shirt that I sourced from the US. He also casted her under the arms as her curve is quite low and she was very restricted in the shoulders last time. I am feeling positive about the impacts of these changes.

The last few days have been hard. Although the procedure went well and Evelyne recovered from the general anaesthetic quicker than last time, she has clearly been in discomfort and pain. She was on pain medication for the first few days and I found it hard to see her struggling. Evie is so tough and does not complain, but she has struggled to do simple things like take herself to the toilet.  It is amazing to think of the changes her body is coping with. They have pushed the scoliosis angle from over 60 degrees to 39 degrees. And she has grown almost 3cm in one day! You can see in the first picture she is trying to put on a brave face.

The last 2 days Evelyne has become happier and as she says "I am getting used to my cast". She went to preschool for 2 hours yesterday and ballet this morning. Although night-times are still hard it is encouraging to see her doing so well. I am now praying she stays free of pressure sores. 

I made her a doll to take with her into the theatre and put a matching cast on it. Thankfully it was a hit! I bought the printed duct tape online last year and am now very glad that I did. Milly hasn't left her side and now Evelyne has the pink polka dots to match.

Sleep Studies

Late last year Evelyne had a sleep study done as a follow on from her Restrictive Lung Disease diagnosis. They wanted to check that she was getting enough oxygen through the night.

After we checked in at Westmead, we got our beds set up and PJs on. Then the Sleep Technician came and put a series of wires and electrodes over Evelynes Head, face, and chest. They attached them with a paste much like toothpaste which was interesting to get out of her hair the next day! We then had to put the brace back on over the top. This was probably the trickiest part, as it was difficut to make sure the electrodes were not digging in too much underneath.

All up it was a relatively positive event. Much better than what I expected, and Evie coped much better than I expected too. There were a few hours in the early morning when she woke and was upset, and the Sleep Tech's had to come in a few times to check on her, so we were a bit sleep deprived the next day. 

We recently saw the doctor for the follow up. He was very pleased with the results. He had no concerns in regards to her oxygen levels at night. A great outcome!

She can do anything!

I have previously been told that Evelyne may not be able to ride a 'normal' bike. This was thought due to her low muscle tone in her legs as well as her lack of core strength due to the scoliosis and brace. So when we went for walks we pushed Evelyne in a younger child's trike which had a parent controlled handle to push it. I wasn't too concerned as I knew of a company TAD, that helps modify bikes for older kids. I just assumed we would draw on their services one day.

Recently, a friend offered a bike for sale with training wheels and a parent handle. I thought, that's perfect! It's a standard sized bike, but we could still push her along.

We took her for her first ride, expecting to be pushing her along, and you can see the results from the video clip below. I'm not sure who was more excited, Evelyne or me.

Another lesson to never underestimate my girl!

Song : Jay Laga'aia - Bikeling - (used with permission)