An interview ...

My sister recently interviewed me for her blog on my experience living with a child with a disability.

A child with a disability - My sisters story

Siblings

Over the last couple of years I have been thinking about siblings of kids with disabilities. I have met many people over the years, through work as an OT and personally, who have talked of the effects of growing up with a sibling with a disability. I have also recently read the book 'Siblings' by Kate Strohm. 

The impact appears vary case to case. Many people report to have issues with feeling left out, forgotten, not as important. Some report that it strengthened their character, and they feel they are more tolerant, understanding people as a result. In Kate Strohm's book she says siblings are 'often overlooked in families struggling to cope'. She gives some practical strategies to help give siblings the attention, care and time they need.

A friend of mine once told me that as a child, her main memory of her sister's disability was that her mum would leave her so often. When she would travel away for medical appointments she felt she was always the one left behind. This is something I am very conscious of with Samuel. I am often away with Evelyne in Sydney, and now Samuel is at school, he stays at home with Jon. Jon's parents often come to stay to help with school drop off and pick up which has been wonderful! However I feel it's important to make sure Sam and I get one on one time also. 

As a result last school holidays Sam and I had a special trip together. We caught a train to the Blue Mountains, bush-walked down the giant staircase and around to Echo Point, stayed in a motel, went up and down the scenic railway and cable car, and bush-walked some more before catching a train back home. Samuel took my old camera and took pictures along the way, and made a scrapbook afterwards with photos and brochures and maps. We had a great time together and he was so excited that he got to come on a special trip with me. It was a wonderful 'adventure' together.

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.

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.